#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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	t_alt_count	t_ref_count
ADARB2	105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	1405926	1405926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr10:1405926G>A	ENST00000381312.1	-	3	699	c.374C>T	c.(373-375)gCg>gTg	p.A125V	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	125	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTTCTTGGGCGCCACCGACCA	0.692																																																0													26.0	27.0	26.0					10																	1405926		2203	4298	6501	SO:0001583	missense	105			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.374C>T	10.37:g.1405926G>A	ENSP00000370713:p.Ala125Val		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	g	16.02	3.005300	0.54254	.	.	ENSG00000185736	ENST00000381312	T	0.23147	1.92	4.82	4.82	0.62117	Double-stranded RNA-binding (1);	0.464205	0.25919	N	0.027444	T	0.15349	0.0370	N	0.08118	0	0.80722	D	1	B	0.30542	0.284	B	0.26969	0.075	T	0.09015	-1.0694	10	0.36615	T	0.2	-13.7546	17.9271	0.88987	0.0:0.0:1.0:0.0	.	125	Q9NS39	RED2_HUMAN	V	125	ENSP00000370713:A125V	ENSP00000370713:A125V	A	-	2	0	ADARB2	1395926	0.999000	0.42202	0.778000	0.31720	0.962000	0.63368	6.627000	0.74258	2.210000	0.71456	0.558000	0.71614	GCG		0.692	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		45	36	45	36
OR4C11	219429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	55371099	55371099	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr11:55371099G>T	ENST00000302231.4	-	1	775	c.751C>A	c.(751-753)Cca>Aca	p.P251T		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATATACATGGGCCAAAGAAT	0.438																																																0													68.0	58.0	61.0					11																	55371099		2179	4006	6185	SO:0001583	missense	219429			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.751C>A	11.37:g.55371099G>T	ENSP00000306651:p.Pro251Thr		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	G	8.859	0.946455	0.18356	.	.	ENSG00000172188	ENST00000302231	T	0.00022	9.01	4.34	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	U	0.000182	T	0.00178	0.0005	N	0.21240	0.645	0.09310	N	1	D	0.63880	0.993	P	0.62813	0.907	T	0.56774	-0.7923	10	0.87932	D	0	.	9.6182	0.39706	0.1006:0.0:0.8994:0.0	.	251	Q6IEV9	OR4CB_HUMAN	T	251	ENSP00000306651:P251T	ENSP00000306651:P251T	P	-	1	0	OR4C11	55127675	0.000000	0.05858	0.099000	0.21106	0.008000	0.06430	-0.750000	0.04808	1.182000	0.42928	0.478000	0.44815	CCA		0.438	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		15	85	15	85
LPCAT3	10162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	7092611	7092611	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:7092611T>C	ENST00000261407.4	-	2	326	c.241A>G	c.(241-243)Att>Gtt	p.I81V	LPCAT3_ENST00000535021.1_5'Flank	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	81					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AAATAAGCAATTGAGAGGCCT	0.418																																																0													173.0	179.0	177.0					12																	7092611		2203	4300	6503	SO:0001583	missense	10162			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.241A>G	12.37:g.7092611T>C	ENSP00000261407:p.Ile81Val		B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.380852	0.42207	.	.	ENSG00000111684	ENST00000261407	T	0.72942	-0.7	5.5	5.5	0.81552	.	0.062767	0.64402	D	0.000003	T	0.67933	0.2946	M	0.75777	2.31	0.46542	D	0.999094	B	0.21071	0.051	B	0.14023	0.01	T	0.64188	-0.6466	10	0.28530	T	0.3	-13.4384	11.0421	0.47838	0.0:0.0725:0.0:0.9275	.	81	Q6P1A2	MBOA5_HUMAN	V	81	ENSP00000261407:I81V	ENSP00000261407:I81V	I	-	1	0	LPCAT3	6962872	1.000000	0.71417	0.683000	0.30040	0.995000	0.86356	4.501000	0.60393	2.216000	0.71823	0.533000	0.62120	ATT		0.418	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		132	202	132	202
ANAPC7	51434	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	110824234	110824234	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:110824234G>C	ENST00000455511.3	-	6	817	c.817C>G	c.(817-819)Cta>Gta	p.L273V	RP11-478C19.2_ENST00000550231.1_RNA|ANAPC7_ENST00000450008.2_Missense_Mutation_p.L273V	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	273					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CTTCCCAATAGGTCCACGTTA	0.353																																																0													224.0	223.0	223.0					12																	110824234		2203	4300	6503	SO:0001583	missense	51434			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.817C>G	12.37:g.110824234G>C	ENSP00000394394:p.Leu273Val		Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	37	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770537	0.31320	.	.	ENSG00000196510	ENST00000455511;ENST00000450008	T;T	0.53423	1.17;0.62	5.37	4.48	0.54585	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	N	0.24115	0.695	0.52099	D	0.999947	B;B	0.19817	0.039;0.03	B;B	0.17722	0.019;0.016	T	0.06734	-1.0810	10	0.07482	T	0.82	-18.4922	7.6511	0.28348	0.1457:0.0:0.7198:0.1345	.	273;273	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	V	273	ENSP00000394394:L273V;ENSP00000402314:L273V	ENSP00000402314:L273V	L	-	1	2	ANAPC7	109308617	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	3.115000	0.50391	1.257000	0.44085	0.655000	0.94253	CTA		0.353	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		143	212	143	212
AKAP6	9472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	33292355	33292355	+	Missense_Mutation	SNP	T	T	G	rs74712664		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr14:33292355T>G	ENST00000280979.4	+	13	5506	c.5336T>G	c.(5335-5337)aTt>aGt	p.I1779S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1779					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACTCCAGTATTGCAACAGAT	0.433																																					Melanoma(49;821 1200 7288 13647 42351)											0													106.0	99.0	101.0					14																	33292355		2203	4300	6503	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5336T>G	14.37:g.33292355T>G	ENSP00000280979:p.Ile1779Ser		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.642354	0.47153	.	.	ENSG00000151320	ENST00000280979	T	0.06768	3.26	5.63	5.63	0.86233	.	0.274221	0.37136	N	0.002229	T	0.24661	0.0598	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.00280	-1.1852	10	0.56958	D	0.05	-14.4196	15.4899	0.75597	0.0:0.0:0.0:1.0	.	1779	Q13023	AKAP6_HUMAN	S	1779	ENSP00000280979:I1779S	ENSP00000280979:I1779S	I	+	2	0	AKAP6	32362106	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.458000	0.60095	2.141000	0.66446	0.528000	0.53228	ATT		0.433	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		31	57	31	57
FBN1	2200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	48786433	48786433	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr15:48786433C>T	ENST00000316623.5	-	23	3151	c.2696G>A	c.(2695-2697)gGg>gAg	p.G899E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	899	TB 4.				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)			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)		TCTTGAGTACCCTTTACCACA	0.323																																																0													118.0	117.0	118.0					15																	48786433		2197	4295	6492	SO:0001583	missense	2200			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.2696G>A	15.37:g.48786433C>T	ENSP00000325527:p.Gly899Glu		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101222	0.94245	.	.	ENSG00000166147	ENST00000316623	D	0.88741	-2.42	5.78	5.78	0.91487	Matrix fibril-associated (2);	0.100019	0.64402	D	0.000002	D	0.95984	0.8692	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96087	0.9058	10	0.87932	D	0	.	19.9618	0.97254	0.0:1.0:0.0:0.0	.	899	P35555	FBN1_HUMAN	E	899	ENSP00000325527:G899E	ENSP00000325527:G899E	G	-	2	0	FBN1	46573725	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	7.088000	0.76901	2.894000	0.99253	0.655000	0.94253	GGG		0.323	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			26	91	26	91
PAFAH1B1	5048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	2576020	2576020	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:2576020A>G	ENST00000397195.5	+	7	1091	c.640A>G	c.(640-642)Aaa>Gaa	p.K214E	PAFAH1B1_ENST00000572915.2_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K43E	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CTCAAGGGATAAAACTATAAA	0.433																																																0													105.0	96.0	99.0					17																	2576020		2203	4300	6503	SO:0001583	missense	5048			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.640A>G	17.37:g.2576020A>G	ENSP00000380378:p.Lys214Glu			Missense_Mutation	SNP	ENST00000397195.5	37	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.414362	0.62511	.	.	ENSG00000007168	ENST00000397195;ENST00000397193;ENST00000451360	T;T	0.62364	0.03;0.03	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.042391	0.85682	D	0.000000	T	0.61813	0.2377	L	0.61218	1.895	0.80722	D	1	B;B	0.18968	0.014;0.032	B;B	0.26770	0.073;0.042	T	0.62286	-0.6886	10	0.54805	T	0.06	.	14.0218	0.64560	1.0:0.0:0.0:0.0	.	43;214	B4DF38;P43034	.;LIS1_HUMAN	E	214;43;43	ENSP00000380378:K214E;ENSP00000395628:K43E	ENSP00000380377:K43E	K	+	1	0	PAFAH1B1	2522770	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.135000	0.94478	1.953000	0.56701	0.460000	0.39030	AAA		0.433	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		25	49	25	49
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		53	83	53	83
DNAJC7	7266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	40133943	40133943	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:40133943G>A	ENST00000457167.4	-	12	1550	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	DNAJC7_ENST00000316603.7_Silent_p.L382L|DNAJC7_ENST00000426588.3_Silent_p.L382L	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	438	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TGGGATCAGAGAGGATAGTAA	0.502																																					Colon(63;618 1117 8600 10857 19751)											0													149.0	139.0	142.0					17																	40133943		1952	4126	6078	SO:0001819	synonymous_variant	7266			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1314C>T	17.37:g.40133943G>A			Q7Z784	Silent	SNP	ENST00000457167.4	37	CCDS45677.1																																																																																				0.502	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			33	104	33	104
CETN1	1068	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	580857	580857	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr18:580857A>C	ENST00000327228.3	+	1	491	c.449A>C	c.(448-450)gAt>gCt	p.D150A		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	150	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GACGAAGCTGATCGGGATGGG	0.542																																																0													90.0	87.0	88.0					18																	580857		2203	4300	6503	SO:0001583	missense	1068			U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.449A>C	18.37:g.580857A>C	ENSP00000319052:p.Asp150Ala		B2R536	Missense_Mutation	SNP	ENST00000327228.3	37	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988632	0.53934	.	.	ENSG00000177143	ENST00000327228	D	0.95918	-3.85	5.2	5.2	0.72013	RNA helicase, ATP-dependent, DEAD-box, conserved site (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99035	1.0822	10	0.87932	D	0	.	13.3624	0.60663	1.0:0.0:0.0:0.0	.	150	Q12798	CETN1_HUMAN	A	150	ENSP00000319052:D150A	ENSP00000319052:D150A	D	+	2	0	CETN1	570857	1.000000	0.71417	0.120000	0.21714	0.017000	0.09413	5.127000	0.64727	2.324000	0.78689	0.533000	0.62120	GAT		0.542	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		18	94	18	94
KIAA1328	57536	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	34414311	34414311	+	Silent	SNP	C	C	T	rs562943084		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr18:34414311C>T	ENST00000280020.5	+	2	109	c.87C>T	c.(85-87)taC>taT	p.Y29Y	KIAA1328_ENST00000592521.1_Silent_p.Y29Y|KIAA1328_ENST00000543923.1_5'UTR|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000591619.1_Silent_p.Y25Y	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	29										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CAGTAGTATACGTTCCAGGTA	0.338																																																0													112.0	101.0	104.0					18																	34414311		1818	4077	5895	SO:0001819	synonymous_variant	57536			AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.87C>T	18.37:g.34414311C>T			Q05DL0|Q49AG6|Q9P2L8	Silent	SNP	ENST00000280020.5	37	CCDS45855.1																																																																																				0.338	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		15	12	15	12
DAPK3	1613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	3964267	3964267	+	Missense_Mutation	SNP	G	G	C	rs202200405		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:3964267G>C	ENST00000545797.2	-	4	771	c.528C>G	c.(526-528)aaC>aaG	p.N176K	MIR637_ENST00000385000.1_RNA|DAPK3_ENST00000301264.3_Missense_Mutation_p.N176K			O43293	DAPK3_HUMAN	death-associated protein kinase 3	176	Activation segment. {ECO:0000250|UniProtKB:O96017}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGAAGATGTTCTTGAACT	0.627																																																0													156.0	107.0	124.0					19																	3964267		2203	4300	6503	SO:0001583	missense	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.528C>G	19.37:g.3964267G>C	ENSP00000442973:p.Asn176Lys		A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	ENST00000545797.2	37	CCDS12116.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377454	0.42105	.	.	ENSG00000167657	ENST00000301264;ENST00000545797;ENST00000442766	T;T	0.64438	-0.1;-0.1	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	N	0.13235	0.315	0.52501	D	0.999957	D	0.58620	0.983	P	0.57911	0.829	T	0.59773	-0.7391	10	0.48119	T	0.1	.	9.9989	0.41916	0.1552:0.0:0.8448:0.0	.	176	O43293	DAPK3_HUMAN	K	176;176;31	ENSP00000301264:N176K;ENSP00000442973:N176K	ENSP00000301264:N176K	N	-	3	2	DAPK3	3915267	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	1.830000	0.39131	2.577000	0.86979	0.555000	0.69702	AAC		0.627	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		17	53	17	53
OR2Z1	284383	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	8841995	8841995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:8841995C>A	ENST00000324060.2	+	1	680	c.605C>A	c.(604-606)tCa>tAa	p.S202*		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGTCCACCTCAGGGGTGCTG	0.577											OREG0007662	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																				0													133.0	115.0	121.0					19																	8841995		2203	4300	6503	SO:0001587	stop_gained	284383			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.605C>A	19.37:g.8841995C>A	ENSP00000316284:p.Ser202*	652	B9EH50|Q6IFK0|Q96R25	Nonsense_Mutation	SNP	ENST00000324060.2	37	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462287	0.43736	.	.	ENSG00000181733	ENST00000324060	.	.	.	4.67	0.927	0.19437	.	0.869485	0.09907	N	0.740250	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.8822	0.29629	0.0:0.6037:0.3066:0.0897	.	.	.	.	X	202	.	ENSP00000316284:S202X	S	+	2	0	OR2Z1	8702995	0.000000	0.05858	0.325000	0.25375	0.235000	0.25334	-0.648000	0.05391	0.502000	0.28037	0.543000	0.68304	TCA		0.577	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			26	173	26	173
PHLDB3	653583	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	43999703	43999703	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:43999703C>T	ENST00000292140.5	-	7	1255	c.895G>A	c.(895-897)Gcc>Acc	p.A299T		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	299							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CGGCTCTCGGCTGCCATCTGC	0.642																																																0													29.0	40.0	36.0					19																	43999703		1997	4166	6163	SO:0001583	missense	653583				CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.895G>A	19.37:g.43999703C>T	ENSP00000292140:p.Ala299Thr		Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269417	0.40095	.	.	ENSG00000176531	ENST00000292140	T	0.46819	0.86	4.66	3.63	0.41609	.	.	.	.	.	T	0.36936	0.0985	L	0.27053	0.805	0.09310	N	1	B;B	0.29531	0.247;0.2	B;B	0.35931	0.214;0.042	T	0.29366	-1.0014	9	0.35671	T	0.21	.	9.047	0.36352	0.0:0.8959:0.0:0.1041	.	3;299	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	T	299	ENSP00000292140:A299T	ENSP00000292140:A299T	A	-	1	0	PHLDB3	48691543	0.266000	0.24112	0.009000	0.14445	0.510000	0.34073	2.210000	0.42816	1.095000	0.41419	-0.350000	0.07774	GCC		0.642	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			12	14	12	14
CRX	1406	hgsc.bcm.edu;broad.mit.edu	37	19	48342788	48342788	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:48342788C>T	ENST00000221996.7	+	4	670	c.464C>T	c.(463-465)aCg>aTg	p.T155M	CRX_ENST00000539067.1_Missense_Mutation_p.T155M|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	155					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCCCCAACCACGGCAGTGGCC	0.667																																					Pancreas(57;461 1196 22201 40716 47188)											0													36.0	39.0	38.0					19																	48342788		2201	4295	6496	SO:0001583	missense	1406			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.464C>T	19.37:g.48342788C>T	ENSP00000221996:p.Thr155Met		Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489362	0.26686	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.90324	-2.65;-2.65	3.93	2.88	0.33553	.	0.414424	0.25717	N	0.028766	D	0.83912	0.5357	L	0.47190	1.495	0.27928	N	0.938007	P	0.37708	0.606	B	0.25614	0.062	T	0.78043	-0.2358	10	0.66056	D	0.02	-0.4251	11.2761	0.49168	0.0:0.8136:0.1864:0.0	.	155	O43186	CRX_HUMAN	M	155	ENSP00000221996:T155M;ENSP00000445565:T155M	ENSP00000221996:T155M	T	+	2	0	CRX	53034600	0.750000	0.28316	0.002000	0.10522	0.641000	0.38312	5.283000	0.65621	0.850000	0.35239	0.467000	0.42956	ACG		0.667	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		10	122	10	122
GRWD1	83743	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	48953672	48953672	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:48953672C>G	ENST00000253237.5	+	4	804	c.571C>G	c.(571-573)Cag>Gag	p.Q191E		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	191						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGGAGCCCCAGGCCCTGGC	0.647																																																0													67.0	72.0	70.0					19																	48953672		2203	4300	6503	SO:0001583	missense	83743			AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.571C>G	19.37:g.48953672C>G	ENSP00000253237:p.Gln191Glu		Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	C	4.601	0.111601	0.08831	.	.	ENSG00000105447	ENST00000253237	T	0.65364	-0.15	3.69	3.69	0.42338	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.372666	0.27768	N	0.017929	T	0.49864	0.1582	L	0.35288	1.05	0.41802	D	0.989929	B	0.13145	0.007	B	0.12837	0.008	T	0.46020	-0.9221	10	0.23302	T	0.38	-25.2531	14.7057	0.69189	0.0:1.0:0.0:0.0	.	191	Q9BQ67	GRWD1_HUMAN	E	191	ENSP00000253237:Q191E	ENSP00000253237:Q191E	Q	+	1	0	GRWD1	53645484	0.990000	0.36364	0.990000	0.47175	0.993000	0.82548	2.468000	0.45102	2.071000	0.62044	0.561000	0.74099	CAG		0.647	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		33	105	33	105
VWA1	64856	hgsc.bcm.edu;broad.mit.edu	37	1	1374627	1374627	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:1374627G>A	ENST00000476993.1	+	3	876	c.798G>A	c.(796-798)acG>acA	p.T266T	VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_Silent_p.T54T	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	266	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614)				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGAACGCCACGGACTGGATCT	0.697																																																0													11.0	13.0	12.0					1																	1374627		2135	4216	6351	SO:0001819	synonymous_variant	64856			BC059409	CCDS27.1, CCDS28.1, CCDS28.2	1p36.33	2013-02-11			ENSG00000179403	ENSG00000179403		"""Fibronectin type III domain containing"""	30910	protein-coding gene	gene with protein product		611901				14527666, 12062410	Standard	NM_022834		Approved	FLJ22215, VWA-1, WARP	uc001afs.3	Q6PCB0	OTTHUMG00000002975	ENST00000476993.1:c.798G>A	1.37:g.1374627G>A			A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5	Silent	SNP	ENST00000476993.1	37	CCDS27.1																																																																																				0.697	VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008291.1	NM_022834		13	18	13	18
MFN2	9927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	12071583	12071583	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:12071583C>T	ENST00000235329.5	+	19	2557	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	MFN2_ENST00000444836.1_Silent_p.L745L	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	745					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ACAGTGAGCTCAACATGTTCA	0.537																																																0													141.0	118.0	126.0					1																	12071583		2203	4300	6503	SO:0001819	synonymous_variant	9927			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.2235C>T	1.37:g.12071583C>T			A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	ENST00000235329.5	37	CCDS30587.1																																																																																				0.537	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		58	102	58	102
LRRC8D	55144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	90401127	90401127	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:90401127C>G	ENST00000337338.5	+	3	2907	c.2500C>G	c.(2500-2502)Ctt>Gtt	p.L834V	LRRC8D_ENST00000394593.3_Missense_Mutation_p.L834V	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	834					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GGAAGATCACCTTTTTGATAC	0.478																																																0													59.0	57.0	58.0					1																	90401127		2203	4300	6503	SO:0001583	missense	55144			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2500C>G	1.37:g.90401127C>G	ENSP00000338887:p.Leu834Val		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407422	0.62399	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.36878	1.23;1.23	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	M	0.62266	1.93	0.80722	D	1	P	0.51653	0.947	P	0.54100	0.742	T	0.09952	-1.0651	9	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	834	Q7L1W4	LRC8D_HUMAN	V	834	ENSP00000338887:L834V;ENSP00000378093:L834V	.	L	+	1	0	LRRC8D	90173715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.656000	0.67988	2.885000	0.99019	0.655000	0.94253	CTT		0.478	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		63	77	63	77
PLPPR4	9890	hgsc.bcm.edu;broad.mit.edu	37	1	99753520	99753520	+	Splice_Site	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:99753520G>C	ENST00000370185.3	+	2	719		c.e2-1		LPPR4_ENST00000457765.1_Splice_Site	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN							axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTCATTCTTAGTTGCCTATAT	0.433																																																0													129.0	112.0	118.0					1																	99753520		2203	4300	6503	SO:0001630	splice_region_variant	9890																														ENST00000370185.3:c.223-1G>C	1.37:g.99753520G>C			E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Splice_Site	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978216	0.74360	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178	.	.	.	5.79	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7628	0.69617	0.0694:0.0:0.9306:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RP4-788L13.1	99526108	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	9.848000	0.99507	1.437000	0.47472	0.557000	0.71058	.		0.433	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		Intron	6	124	6	124
GJA8	2703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	147381232	147381232	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:147381232G>C	ENST00000369235.1	+	1	1150	c.1150G>C	c.(1150-1152)Gaa>Caa	p.E384Q	GJA8_ENST00000240986.4_Missense_Mutation_p.E384Q			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	384					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGTGAAAAAGAAGAGCCGCA	0.582																																					Melanoma(76;1255 1795 8195 52096)											0													52.0	56.0	55.0					1																	147381232		2203	4300	6503	SO:0001583	missense	2703			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1150G>C	1.37:g.147381232G>C	ENSP00000358238:p.Glu384Gln		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	8.004	0.756078	0.15846	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97994	-4.65;-4.65	4.02	3.1	0.35709	.	7739.210000	0.00166	N	0.000000	D	0.93145	0.7817	L	0.44542	1.39	0.42535	D	0.993059	B	0.15719	0.014	B	0.12156	0.007	T	0.80453	-0.1376	10	0.30078	T	0.28	.	10.0132	0.41999	0.0:0.2044:0.7956:0.0	.	384	P48165	CXA8_HUMAN	Q	384	ENSP00000240986:E384Q;ENSP00000358238:E384Q	ENSP00000240986:E384Q	E	+	1	0	GJA8	145847856	0.675000	0.27558	0.804000	0.32291	0.512000	0.34134	1.285000	0.33261	1.256000	0.44068	0.655000	0.94253	GAA		0.582	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		8	6	8	6
LAMC2	3918	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	183201918	183201918	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:183201918G>C	ENST00000264144.4	+	14	2211	c.2146G>C	c.(2146-2148)Gtt>Ctt	p.V716L	LAMC2_ENST00000493293.1_Missense_Mutation_p.V716L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	716	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCAGAACCGAGTTCGGGATAC	0.522																																																0													100.0	103.0	102.0					1																	183201918		2203	4300	6503	SO:0001583	missense	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2146G>C	1.37:g.183201918G>C	ENSP00000264144:p.Val716Leu		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	9.446	1.089327	0.20390	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.16324	2.5;2.35	5.55	3.68	0.42216	.	0.604873	0.16235	N	0.223401	T	0.12987	0.0315	L	0.41824	1.3	0.09310	N	0.999999	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.13407	0.004;0.004;0.009	T	0.29610	-1.0006	10	0.12766	T	0.61	.	9.6959	0.40156	0.1584:0.0:0.8416:0.0	.	716;716;716	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	L	716	ENSP00000432063:V716L;ENSP00000264144:V716L	ENSP00000264144:V716L	V	+	1	0	LAMC2	181468541	1.000000	0.71417	0.081000	0.20488	0.428000	0.31595	2.364000	0.44187	1.331000	0.45412	0.650000	0.86243	GTT		0.522	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		68	130	68	130
NAV1	89796	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	201618190	201618190	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:201618190G>C	ENST00000367296.4	+	1	814	c.394G>C	c.(394-396)Gct>Cct	p.A132P	NAV1_ENST00000295624.6_Missense_Mutation_p.A132P|NAV1_ENST00000367297.4_Missense_Mutation_p.A132P|NAV1_ENST00000367300.3_Missense_Mutation_p.A132P|NAV1_ENST00000367302.1_Missense_Mutation_p.A145P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	132					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGGCCGTGAAGCTCCGCTGAT	0.647																																																0													44.0	45.0	45.0					1																	201618190		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.394G>C	1.37:g.201618190G>C	ENSP00000356265:p.Ala132Pro		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965494	0.34659	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	4.89	0.555	0.17247	.	0.613838	0.15683	N	0.249839	T	0.18841	0.0452	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.13737	-1.0498	10	0.37606	T	0.19	-0.6057	5.2335	0.15434	0.268:0.2359:0.4961:0.0	.	132	Q8NEY1-3	.	P	145;132;132;132;132	ENSP00000356271:A145P;ENSP00000356265:A132P;ENSP00000295624:A132P;ENSP00000356266:A132P;ENSP00000356269:A132P	ENSP00000295624:A132P	A	+	1	0	NAV1	199884813	0.927000	0.31430	0.789000	0.31954	0.945000	0.59286	1.069000	0.30641	0.114000	0.18032	0.313000	0.20887	GCT		0.647	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		9	22	9	22
C1orf101	257044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	244773582	244773582	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:244773582T>C	ENST00000366534.4	+	19	2498	c.2444T>C	c.(2443-2445)aTt>aCt	p.I815T	C1orf101_ENST00000366533.4_Missense_Mutation_p.I815T|C1orf101_ENST00000366531.3_Missense_Mutation_p.I664T|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	815						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAGTCAATGATTGAACTTAAC	0.388																																																0													112.0	104.0	106.0					1																	244773582		2203	4300	6503	SO:0001583	missense	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2444T>C	1.37:g.244773582T>C	ENSP00000355492:p.Ile815Thr		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	T	9.539	1.112966	0.20795	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.54	-10.1	0.00402	.	1.367020	0.04887	N	0.448821	T	0.11879	0.0289	N	0.16790	0.44	0.09310	N	1	B;B;B;B	0.26081	0.007;0.084;0.141;0.015	B;B;B;B	0.22753	0.005;0.022;0.041;0.019	T	0.11717	-1.0576	10	0.22706	T	0.39	.	8.9254	0.35637	0.1635:0.1036:0.0:0.7329	.	735;815;815;664	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	T	815;815;815;735;664	ENSP00000355492:I815T;ENSP00000355491:I815T;ENSP00000395796:I735T;ENSP00000355489:I664T	ENSP00000355489:I664T	I	+	2	0	C1orf101	242840205	0.000000	0.05858	0.000000	0.03702	0.926000	0.56050	-0.906000	0.04071	-2.132000	0.00814	-0.353000	0.07706	ATT		0.388	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		48	67	48	67
TRIM58	25893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	248028031	248028031	+	Missense_Mutation	SNP	C	C	T	rs368652011		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:248028031C>T	ENST00000366481.3	+	3	589	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGGCAGCGCTTCAGATT	0.592																																																0													78.0	58.0	64.0					1																	248028031		2203	4300	6503	SO:0001583	missense	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.541C>T	1.37:g.248028031C>T	ENSP00000355437:p.Arg181Cys		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485560	0.44147	.	.	ENSG00000162722	ENST00000366481	T	0.04706	3.57	4.25	1.24	0.21308	.	0.622326	0.13793	N	0.362392	T	0.16642	0.0400	M	0.87381	2.88	0.21064	N	0.999799	D	0.76494	0.999	P	0.59357	0.856	T	0.06734	-1.0810	10	0.87932	D	0	.	5.1798	0.15154	0.1643:0.6499:0.0:0.1859	.	181	Q8NG06	TRI58_HUMAN	C	181	ENSP00000355437:R181C	ENSP00000355437:R181C	R	+	1	0	TRIM58	246094654	0.058000	0.20735	0.183000	0.23137	0.620000	0.37586	0.582000	0.23834	0.158000	0.19367	-0.140000	0.14226	CGC		0.592	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		19	42	19	42
ZFP64	55734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	50701276	50701276	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr20:50701276G>A	ENST00000361387.2	-	9	1818	c.1758C>T	c.(1756-1758)ggC>ggT	p.G586G	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.G367G	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGAAGGAGGCGCCGCAGGTCT	0.597																																																0													57.0	48.0	51.0					20																	50701276		2203	4300	6503	SO:0001819	synonymous_variant	55734			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1758C>T	20.37:g.50701276G>A			Q9NTS7|Q9NVH4	Silent	SNP	ENST00000361387.2	37	CCDS13439.1																																																																																				0.597	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		15	40	15	40
CXCR4	7852	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	136872470	136872470	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:136872470T>C	ENST00000241393.3	-	2	1132	c.1028A>G	c.(1027-1029)gAg>gGg	p.E343G	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.E347G	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	343					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	AGACTCAGACTCAGTGGAAAC	0.403																																																0													153.0	147.0	149.0					2																	136872470		2203	4300	6503	SO:0001583	missense	7852			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.1028A>G	2.37:g.136872470T>C	ENSP00000241393:p.Glu343Gly		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.686291	0.47991	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.61158	0.13;0.13	5.95	5.95	0.96441	.	0.095984	0.64402	D	0.000001	T	0.59810	0.2221	N	0.14661	0.345	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.991;0.996	T	0.57112	-0.7867	10	0.15952	T	0.53	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	343;347	P61073;P61073-2	CXCR4_HUMAN;.	G	347;343;213	ENSP00000386884:E347G;ENSP00000241393:E343G	ENSP00000241393:E343G	E	-	2	0	CXCR4	136588940	1.000000	0.71417	0.925000	0.36789	0.773000	0.43773	7.698000	0.84413	2.281000	0.76405	0.528000	0.53228	GAG		0.403	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			10	9	10	9
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	179495026	179495026	+	Silent	SNP	C	C	T	rs368830196		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:179495026C>T	ENST00000591111.1	-	189	39524	c.39300G>A	c.(39298-39300)acG>acA	p.T13100T	TTN_ENST00000589042.1_Silent_p.T14741T|TTN_ENST00000342992.6_Silent_p.T12173T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.T5801T|TTN_ENST00000460472.2_Silent_p.T5676T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.T5868T|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13100					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCCCACCCGTCTGGTCCA	0.398																																																0								C	,,,	0,3714		0,0,1857	81.0	86.0	84.0		17028,36519,17403,17604	-12.1	0.1	2		84	1,8165		0,1,4082	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5939	TT,TC,CC		0.0122,0.0,0.0084	,,,	5676/26927,12173/33424,5801/27052,5868/27119	179495026	1,11879	1857	4083	5940	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39300G>A	2.37:g.179495026C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		42	56	42	56
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			38	77	38	77
RAD54L2	23132	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	51663382	51663382	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:51663382T>C	ENST00000409535.2	+	4	499	c.374T>C	c.(373-375)gTt>gCt	p.V125A	RAD54L2_ENST00000296477.3_5'Flank	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	125						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TTGGAGCCTGTTACCAAAGCA	0.463																																																0													87.0	83.0	85.0					3																	51663382		2203	4299	6502	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.374T>C	3.37:g.51663382T>C	ENSP00000386520:p.Val125Ala		Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	T	11.77	1.738227	0.30774	.	.	ENSG00000164080	ENST00000409535	T	0.30448	1.53	5.67	5.67	0.87782	.	0.111526	0.64402	D	0.000011	T	0.22003	0.0530	L	0.36672	1.1	0.80722	D	1	P	0.38504	0.634	B	0.33690	0.168	T	0.04229	-1.0967	10	0.08381	T	0.77	-12.5349	15.1082	0.72336	0.0:0.0:0.0:1.0	.	125	Q9Y4B4	ARIP4_HUMAN	A	125	ENSP00000386520:V125A	ENSP00000386520:V125A	V	+	2	0	RAD54L2	51638422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.209000	0.51122	2.159000	0.67721	0.533000	0.62120	GTT		0.463	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		5	8	5	8
ABHD10	55347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	111705808	111705808	+	Silent	SNP	A	A	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:111705808A>C	ENST00000273359.3	+	4	513	c.486A>C	c.(484-486)gcA>gcC	p.A162A	ABHD10_ENST00000494817.1_Silent_p.A162A|ABHD10_ENST00000534857.1_Silent_p.A5A	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	162					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						TTCATGCTGCAATTGCACGAC	0.383																																																0													146.0	136.0	139.0					3																	111705808		2203	4300	6503	SO:0001819	synonymous_variant	55347			AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.486A>C	3.37:g.111705808A>C			B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Silent	SNP	ENST00000273359.3	37	CCDS2963.1																																																																																				0.383	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		40	78	40	78
ZDHHC23	254887	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	113677375	113677375	+	Silent	SNP	C	C	T	rs567969212		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:113677375C>T	ENST00000330212.3	+	5	1505	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	ZDHHC23_ENST00000488129.1_3'UTR|ZDHHC23_ENST00000498275.1_Silent_p.I396I	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	402					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GCGGGCTCATCGTGGACACAG	0.602																																																0													35.0	38.0	37.0					3																	113677375		2203	4300	6503	SO:0001819	synonymous_variant	254887			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.1206C>T	3.37:g.113677375C>T			D3DN76	Silent	SNP	ENST00000330212.3	37	CCDS33827.1																																																																																				0.602	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		21	39	21	39
GOLGB1	2804	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	121409831	121409831	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:121409831C>T	ENST00000340645.5	-	14	8490	c.8365G>A	c.(8365-8367)Gcc>Acc	p.A2789T	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A2794T	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2789					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A2789T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATTGAAAAGGCGGTTTCAGAA	0.423																																																1	Substitution - Missense(1)	ovary(1)											117.0	108.0	111.0					3																	121409831		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8365G>A	3.37:g.121409831C>T	ENSP00000341848:p.Ala2789Thr		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.869484	0.00547	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15834	2.39;2.39	5.3	-7.44	0.01379	.	1.036540	0.07611	N	0.925375	T	0.09598	0.0236	L	0.41027	1.25	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.08055	0.003;0.002;0.002	T	0.36138	-0.9760	10	0.13108	T	0.6	.	5.1782	0.15146	0.3579:0.2669:0.0:0.3752	.	2794;2794;2789	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	T	2789;2794	ENSP00000341848:A2789T;ENSP00000377275:A2794T	ENSP00000341848:A2789T	A	-	1	0	GOLGB1	122892521	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.783000	0.04638	-2.029000	0.00930	-3.295000	0.00046	GCC		0.423	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		33	46	33	46
TIGD2	166815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	90035215	90035215	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:90035215G>T	ENST00000317005.2	+	1	1248	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	364	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		GACAGTGTTGGATGCAATTTA	0.378																																																0													79.0	79.0	79.0					4																	90035215		2203	4300	6503	SO:0001583	missense	166815			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.1090G>T	4.37:g.90035215G>T	ENSP00000317170:p.Asp364Tyr			Missense_Mutation	SNP	ENST00000317005.2	37	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434521	0.43224	.	.	ENSG00000180346	ENST00000317005	T	0.49720	0.77	4.36	3.52	0.40303	.	0.000000	0.43919	D	0.000517	T	0.70937	0.3281	M	0.90425	3.115	0.33618	D	0.604469	D	0.89917	1.0	D	0.97110	1.0	T	0.81024	-0.1120	10	0.87932	D	0	-7.9565	9.8692	0.41164	0.1011:0.0:0.8989:0.0	.	364	Q4W5G0	TIGD2_HUMAN	Y	364	ENSP00000317170:D364Y	ENSP00000317170:D364Y	D	+	1	0	TIGD2	90254238	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.132000	0.57977	1.060000	0.40578	0.460000	0.39030	GAT		0.378	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		37	58	37	58
SLC9B2	133308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	103970144	103970144	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:103970144G>C	ENST00000394785.3	-	6	1250	c.619C>G	c.(619-621)Ctg>Gtg	p.L207V	SLC9B2_ENST00000503230.1_Missense_Mutation_p.L150V|SLC9B2_ENST00000503103.1_Missense_Mutation_p.L150V|SLC9B2_ENST00000339611.4_Missense_Mutation_p.L207V|SLC9B2_ENST00000362026.3_Missense_Mutation_p.L207V	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	207					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										CCCATGGACAGTCTTACACAA	0.453																																																0													111.0	96.0	101.0					4																	103970144		2203	4300	6503	SO:0001583	missense	133308			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.619C>G	4.37:g.103970144G>C	ENSP00000378265:p.Leu207Val		B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674391	0.47781	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230	T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4	5.57	2.17	0.27698	.	0.086147	0.46442	D	0.000282	T	0.35393	0.0930	M	0.73319	2.225	0.41567	D	0.988669	P;P;D;P	0.62365	0.905;0.867;0.991;0.619	B;P;D;B	0.63877	0.416;0.874;0.919;0.172	T	0.16808	-1.0390	10	0.54805	T	0.06	-11.2844	11.9732	0.53075	0.2253:0.0:0.7747:0.0	.	150;150;207;207	B7Z676;E9PE63;Q86UD5-2;Q86UD5	.;.;.;SL9B2_HUMAN	V	207;107;207;207;150;150	ENSP00000354574:L207V;ENSP00000421943:L107V;ENSP00000345241:L207V;ENSP00000378265:L207V;ENSP00000425385:L150V;ENSP00000422477:L150V	ENSP00000345241:L207V	L	-	1	2	SLC9B2	104189593	0.993000	0.37304	0.105000	0.21289	0.656000	0.38851	1.377000	0.34317	0.714000	0.32081	0.591000	0.81541	CTG		0.453	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		19	31	19	31
RNF14	9604	hgsc.bcm.edu;broad.mit.edu	37	5	141353304	141353304	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr5:141353304A>G	ENST00000394520.2	+	3	460	c.151A>G	c.(151-153)Agc>Ggc	p.S51G	RNF14_ENST00000540015.1_Missense_Mutation_p.S51G|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Missense_Mutation_p.S51G|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000394519.1_Missense_Mutation_p.S51G|RNF14_ENST00000356143.1_Missense_Mutation_p.S51G|RNF14_ENST00000347642.3_Missense_Mutation_p.S51G	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	51	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GATATTTGTGAGCGGTTAGTT	0.308																																																0													56.0	59.0	58.0					5																	141353304		2201	4300	6501	SO:0001583	missense	9604			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.151A>G	5.37:g.141353304A>G	ENSP00000378028:p.Ser51Gly		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.525632	0.64860	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000513019;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000540015;ENST00000506938;ENST00000512565;ENST00000394515;ENST00000507163;ENST00000394519;ENST00000507291	T;T;T;T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.91	5.91	0.95273	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.298471	0.47455	D	0.000227	T	0.35885	0.0947	L	0.29908	0.895	0.80722	D	1	P;B;B	0.47677	0.899;0.005;0.042	B;B;B	0.43478	0.421;0.025;0.18	T	0.06826	-1.0805	10	0.25106	T	0.35	.	16.3432	0.83101	1.0:0.0:0.0:0.0	.	51;51;51	B7Z3J5;B7Z229;Q9UBS8	.;.;RNF14_HUMAN	G	51	ENSP00000423420:S51G;ENSP00000423273:S51G;ENSP00000421780:S51G;ENSP00000348462:S51G;ENSP00000378028:S51G;ENSP00000324956:S51G;ENSP00000442490:S51G;ENSP00000420837:S51G;ENSP00000426832:S51G;ENSP00000378023:S51G;ENSP00000422527:S51G;ENSP00000378027:S51G;ENSP00000423294:S51G	ENSP00000324956:S51G	S	+	1	0	RNF14	141333488	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.633000	0.90999	2.263000	0.75096	0.377000	0.23210	AGC		0.308	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		4	79	4	79
FAM83B	222584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	54806708	54806708	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:54806708A>G	ENST00000306858.7	+	5	3055	c.2939A>G	c.(2938-2940)aAt>aGt	p.N980S	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	980										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CCATTGCTTAATTACAACACT	0.368																																																0													61.0	60.0	60.0					6																	54806708		2203	4300	6503	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2939A>G	6.37:g.54806708A>G	ENSP00000304078:p.Asn980Ser		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	9.032	0.987424	0.18889	.	.	ENSG00000168143	ENST00000306858	T	0.38401	1.14	5.76	3.24	0.37175	.	0.298961	0.32769	N	0.005664	T	0.07593	0.0191	L	0.36672	1.1	0.28015	N	0.934753	B	0.10296	0.003	B	0.11329	0.006	T	0.34229	-0.9837	10	0.07482	T	0.82	-14.8416	5.616	0.17432	0.5801:0.2853:0.1346:0.0	.	980	Q5T0W9	FA83B_HUMAN	S	980	ENSP00000304078:N980S	ENSP00000304078:N980S	N	+	2	0	FAM83B	54914667	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.051000	0.30417	0.985000	0.38656	0.533000	0.62120	AAT		0.368	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		7	75	7	75
ANKRD6	22881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	90312803	90312803	+	Missense_Mutation	SNP	C	C	T	rs200509240		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:90312803C>T	ENST00000522441.1	+	4	916	c.275C>T	c.(274-276)gCg>gTg	p.A92V	ANKRD6_ENST00000339746.4_Missense_Mutation_p.A92V|ANKRD6_ENST00000369408.5_Missense_Mutation_p.A92V|ANKRD6_ENST00000485637.1_Missense_Mutation_p.A92V|ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000520793.1_Missense_Mutation_p.A92V|ANKRD6_ENST00000447838.2_Missense_Mutation_p.A92V	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	92					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GAGATCATCGCGGCGCTCATC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		15220	0.001		0.0	False		,,,				2504	0.0															0													40.0	48.0	45.0					6																	90312803		2104	4210	6314	SO:0001583	missense	22881			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.275C>T	6.37:g.90312803C>T	ENSP00000430985:p.Ala92Val		B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	CCDS56441.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.80	2.046913	0.36085	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000465722;ENST00000523798;ENST00000522441;ENST00000485637;ENST00000522705;ENST00000520793	T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	0.224281	0.31145	N	0.008164	T	0.37999	0.1024	L	0.31578	0.945	0.80722	D	1	P;P;P;P	0.42757	0.742;0.789;0.75;0.484	B;B;B;B	0.30646	0.116;0.118;0.072;0.118	T	0.45527	-0.9255	10	0.48119	T	0.1	-6.2945	20.3539	0.98825	0.0:1.0:0.0:0.0	.	92;92;92;92	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	V	92	ENSP00000358416:A92V;ENSP00000345767:A92V;ENSP00000396771:A92V;ENSP00000429431:A92V;ENSP00000428377:A92V;ENSP00000430985:A92V;ENSP00000430954:A92V;ENSP00000428309:A92V;ENSP00000429782:A92V	ENSP00000345767:A92V	A	+	2	0	ANKRD6	90369522	0.757000	0.28394	0.072000	0.20136	0.019000	0.09904	4.777000	0.62361	2.826000	0.97356	0.655000	0.94253	GCG		0.612	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			10	18	10	18
AIM1	202	hgsc.bcm.edu;broad.mit.edu	37	6	107009224	107009224	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:107009224T>C	ENST00000369066.3	+	18	5250	c.4763T>C	c.(4762-4764)aTt>aCt	p.I1588T	AIM1_ENST00000535438.1_Missense_Mutation_p.I407T	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TAGAAGCGAATTTATTTCAGA	0.418																																																0													81.0	83.0	82.0					6																	107009224		2203	4300	6503	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4763T>C	6.37:g.107009224T>C	ENSP00000358062:p.Ile1588Thr		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319357	0.81469	.	.	ENSG00000112297	ENST00000369066;ENST00000535438	T;T	0.73469	-0.75;-0.74	5.84	5.84	0.93424	Ricin B-related lectin (1);Beta/gamma crystallin (1);Ricin B lectin (2);	0.094086	0.46442	D	0.000287	T	0.64068	0.2565	L	0.40543	1.245	0.48135	D	0.999594	B;P	0.36647	0.357;0.563	B;B	0.42062	0.114;0.374	T	0.71484	-0.4579	10	0.87932	D	0	.	16.2108	0.82158	0.0:0.0:0.0:1.0	.	407;1588	B4DU04;Q9Y4K1	.;AIM1_HUMAN	T	1588;407	ENSP00000358062:I1588T;ENSP00000439183:I407T	ENSP00000358062:I1588T	I	+	2	0	AIM1	107115917	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.395000	0.66291	2.232000	0.73038	0.533000	0.62120	ATT		0.418	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			6	87	6	87
TRDN	10345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	123687319	123687319	+	Nonsense_Mutation	SNP	G	G	A	rs202219343		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:123687319G>A	ENST00000398178.3	-	20	1303	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	TRDN_ENST00000334268.4_Nonsense_Mutation_p.R428*	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	428					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.R428*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCTTTGGCTCGTTCAGTTTCT	0.303																																																1	Substitution - Nonsense(1)	lung(1)						G	stop/ARG	2,3640		0,2,1819	84.0	81.0	82.0		1282	4.7	0.8	6		82	6,8162		0,6,4078	yes	stop-gained	TRDN	NM_006073.2		0,8,5897	AA,AG,GG		0.0735,0.0549,0.0677		428/730	123687319	8,11802	1821	4084	5905	SO:0001587	stop_gained	10345			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1282C>T	6.37:g.123687319G>A	ENSP00000381240:p.Arg428*		A5D6W5|F5H2W7|Q6NSB8	Nonsense_Mutation	SNP	ENST00000398178.3	37	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858900	0.91433	5.49E-4	7.35E-4	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	.	.	.	5.55	4.66	0.58398	.	0.511596	0.16577	N	0.208343	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-0.114	11.1506	0.48455	0.0:0.0:0.7987:0.2013	.	.	.	.	X	428;430;428	.	ENSP00000333984:R428X	R	-	1	2	TRDN	123729018	0.921000	0.31238	0.807000	0.32361	0.308000	0.27856	1.628000	0.37060	1.507000	0.48752	0.655000	0.94253	CGA		0.303	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				8	29	8	29
ASB4	51666	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	95165776	95165776	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:95165776A>G	ENST00000325885.5	+	4	1077	c.1006A>G	c.(1006-1008)Aaa>Gaa	p.K336E		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	336					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTCTTGTCCTAAAGCAATTGA	0.423																																																0													149.0	113.0	125.0					7																	95165776		2203	4300	6503	SO:0001583	missense	51666			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.1006A>G	7.37:g.95165776A>G	ENSP00000321388:p.Lys336Glu		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	A	5.761	0.324776	0.10900	.	.	ENSG00000005981	ENST00000325885	T	0.40225	1.04	4.95	3.72	0.42706	.	0.673663	0.15376	N	0.265582	T	0.17152	0.0412	N	0.03608	-0.345	0.58432	D	0.999995	B	0.09022	0.002	B	0.09377	0.004	T	0.09952	-1.0651	10	0.02654	T	1	-11.5047	11.1398	0.48396	0.8473:0.1527:0.0:0.0	.	336	Q9Y574	ASB4_HUMAN	E	336	ENSP00000321388:K336E	ENSP00000321388:K336E	K	+	1	0	ASB4	95003712	0.064000	0.20934	0.998000	0.56505	0.981000	0.71138	2.061000	0.41403	2.018000	0.59344	0.529000	0.55759	AAA		0.423	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		27	77	27	77
STAG3	10734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	99811425	99811425	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:99811425T>C	ENST00000426455.1	+	33	4072	c.3665T>C	c.(3664-3666)aTt>aCt	p.I1222T	GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.I1222T|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron|STAG3_ENST00000394018.2_Missense_Mutation_p.I1164T	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1222					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCTGGATATTGAGGTGAGT	0.517																																																0													119.0	112.0	114.0					7																	99811425		2203	4300	6503	SO:0001583	missense	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3665T>C	7.37:g.99811425T>C	ENSP00000400359:p.Ile1222Thr		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	t	5.280	0.237130	0.10023	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000379577;ENST00000317296;ENST00000412190	T;T;T	0.24538	1.85;1.85;1.85	5.0	2.47	0.30058	.	1.262490	0.05884	N	0.627042	T	0.17534	0.0421	N	0.22421	0.69	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23868	-1.0176	10	0.51188	T	0.08	0.0151	4.3217	0.11020	0.0:0.1074:0.2024:0.6902	.	1164;1223;1222	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	T	1222;1164;885;243;1222;181	ENSP00000400359:I1222T;ENSP00000377586:I1164T;ENSP00000319318:I1222T	ENSP00000319318:I1222T	I	+	2	0	STAG3	99649361	0.004000	0.15560	0.057000	0.19452	0.078000	0.17371	0.648000	0.24828	1.020000	0.39573	0.533000	0.62120	ATT		0.517	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		54	196	54	196
CHD7	55636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	61654055	61654055	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:61654055G>C	ENST00000423902.2	+	2	543	c.64G>C	c.(64-66)Gaa>Caa	p.E22Q	CHD7_ENST00000525508.1_Missense_Mutation_p.E22Q|CHD7_ENST00000524602.1_Missense_Mutation_p.E22Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	22					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAAGGTCTTGAAGGCCTCGG	0.478																																																0													110.0	103.0	105.0					8																	61654055		1914	4133	6047	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.64G>C	8.37:g.61654055G>C	ENSP00000392028:p.Glu22Gln		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867923	0.51588	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000526846;ENST00000524602;ENST00000525508	T;T;T;T	0.68479	-0.33;0.57;-0.33;-0.33	5.19	5.19	0.71726	.	0.000000	0.40908	D	0.000992	T	0.77785	0.4182	L	0.50333	1.59	0.46096	D	0.998868	D	0.63880	0.993	D	0.70227	0.968	T	0.79713	-0.1688	10	0.72032	D	0.01	-17.3043	16.8911	0.86087	0.0:0.0:1.0:0.0	.	22	Q9P2D1	CHD7_HUMAN	Q	22	ENSP00000392028:E22Q;ENSP00000436492:E22Q;ENSP00000437061:E22Q;ENSP00000436027:E22Q	ENSP00000307304:E22Q	E	+	1	0	CHD7	61816609	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	8.195000	0.89723	2.431000	0.82371	0.585000	0.79938	GAA		0.478	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		15	15	15	15
CCNE2	9134	hgsc.bcm.edu;broad.mit.edu	37	8	95906307	95906307	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:95906307T>C	ENST00000520509.1	-	3	307	c.55A>G	c.(55-57)Acg>Gcg	p.T19A	CCNE2_ENST00000308108.4_Missense_Mutation_p.T19A|NDUFAF6_ENST00000396113.1_5'Flank|CCNE2_ENST00000523476.1_5'Flank|CCNE2_ENST00000396133.3_Missense_Mutation_p.T19A			O96020	CCNE2_HUMAN	cyclin E2	19					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGGGATTCCGTCTGGCTGGGC	0.453																																																0													139.0	159.0	152.0					8																	95906307		2203	4300	6503	SO:0001583	missense	9134			AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.55A>G	8.37:g.95906307T>C	ENSP00000429089:p.Thr19Ala		O95439	Missense_Mutation	SNP	ENST00000520509.1	37	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	T	7.321	0.616987	0.14129	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000396133	T;T;T	0.29917	1.97;1.97;1.55	5.15	-1.89	0.07689	.	1.189420	0.05778	N	0.608112	T	0.16257	0.0391	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23048	-1.0199	10	0.09084	T	0.74	.	3.4175	0.07381	0.1368:0.1335:0.5361:0.1936	.	19;19	Q8WUE3;O96020	.;CCNE2_HUMAN	A	19	ENSP00000429089:T19A;ENSP00000309181:T19A;ENSP00000379437:T19A	ENSP00000309181:T19A	T	-	1	0	CCNE2	95975483	0.530000	0.26330	0.734000	0.30879	0.760000	0.43138	0.010000	0.13242	-0.329000	0.08527	0.459000	0.35465	ACG		0.453	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		10	198	10	198
TBC1D31	93594	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	124117596	124117596	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:124117596G>T	ENST00000287380.1	+	8	1191	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	TBC1D31_ENST00000378080.2_Missense_Mutation_p.K262N|TBC1D31_ENST00000309336.3_Missense_Mutation_p.K367N|TBC1D31_ENST00000518805.1_5'UTR|TBC1D31_ENST00000522420.1_Missense_Mutation_p.K262N|TBC1D31_ENST00000521676.1_Missense_Mutation_p.K262N|TBC1D31_ENST00000327098.5_Missense_Mutation_p.K367N	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	367						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										GTGATCTTAAGATGAAAGTAA	0.343																																																0													53.0	52.0	53.0					8																	124117596		2203	4300	6503	SO:0001583	missense	93594			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1101G>T	8.37:g.124117596G>T	ENSP00000287380:p.Lys367Asn		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283850	0.23392	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000519418;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080	T;T;T;T;T;T;T	0.80304	-0.37;-0.33;0.76;-0.31;-0.83;-1.12;-1.36	4.66	-0.0147	0.13979	.	0.165679	0.50627	D	0.000101	T	0.79857	0.4518	M	0.71581	2.175	0.09310	N	1	D;D;B	0.57257	0.967;0.979;0.376	P;P;B	0.52554	0.701;0.702;0.164	T	0.70153	-0.4950	10	0.54805	T	0.06	-13.2637	3.9675	0.09437	0.3952:0.0:0.439:0.1658	.	367;262;367	B7ZL19;E7ERK7;Q96DN5	.;.;WDR67_HUMAN	N	367;367;35;367;262;262;262	ENSP00000287380:K367N;ENSP00000308358:K367N;ENSP00000430927:K35N;ENSP00000312701:K367N;ENSP00000429334:K262N;ENSP00000430628:K262N;ENSP00000367320:K262N	ENSP00000287380:K367N	K	+	3	2	WDR67	124186777	0.403000	0.25319	0.004000	0.12327	0.024000	0.10985	0.518000	0.22847	0.047000	0.15862	-0.320000	0.08662	AAG		0.343	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		10	33	10	33
ATAD2	29028	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	124359562	124359562	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:124359562G>C	ENST00000287394.5	-	16	2089	c.1982C>G	c.(1981-1983)aCt>aGt	p.T661S	ATAD2_ENST00000521903.1_5'UTR|MIR548AA1_ENST00000384971.2_RNA	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	661					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTCTCACTAGTGGTATAGAT	0.423																																																0													98.0	93.0	95.0					8																	124359562		2203	4300	6503	SO:0001583	missense	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1982C>G	8.37:g.124359562G>C	ENSP00000287394:p.Thr661Ser		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	G	5.428	0.264136	0.10294	.	.	ENSG00000156802	ENST00000287394	D	0.94576	-3.46	4.96	4.01	0.46588	.	0.201920	0.41001	D	0.000972	T	0.80681	0.4669	N	0.01297	-0.9	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.78018	-0.2368	10	0.02654	T	1	-19.5581	13.8557	0.63524	0.0:0.2505:0.7495:0.0	.	661	Q6PL18	ATAD2_HUMAN	S	661	ENSP00000287394:T661S	ENSP00000287394:T661S	T	-	2	0	ATAD2	124428743	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.989000	0.70587	2.442000	0.82660	0.591000	0.81541	ACT		0.423	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		30	112	30	112
RIC1	57589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	5769212	5769212	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:5769212C>A	ENST00000414202.2	+	22	3571	c.3380C>A	c.(3379-3381)gCc>gAc	p.A1127D	KIAA1432_ENST00000251879.6_Missense_Mutation_p.A1127D|KIAA1432_ENST00000449720.2_Missense_Mutation_p.A1011D|KIAA1432_ENST00000381532.2_Missense_Mutation_p.A1048D|KIAA1432_ENST00000418622.3_Missense_Mutation_p.A1048D	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ATCATCCCAGCCTCTTCTATC	0.438																																																0													129.0	146.0	140.0					9																	5769212		2203	4300	6503	SO:0001583	missense	57589																														ENST00000414202.2:c.3380C>A	9.37:g.5769212C>A	ENSP00000416696:p.Ala1127Asp			Missense_Mutation	SNP	ENST00000414202.2	37	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.08|10.08	1.253355|1.253355	0.22965|0.22965	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.82|5.82	3.75|3.75	0.43078|0.43078	.|.	0.307026|.	0.34580|.	N|.	0.003845|.	T|T	0.46092|0.46092	0.1375|0.1375	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	P;P;P|.	0.40875|.	0.612;0.612;0.731|.	B;B;B|.	0.37091|.	0.143;0.188;0.241|.	T|T	0.32481|0.32481	-0.9905|-0.9905	9|5	0.37606|.	T|.	0.19|.	-7.4548|-7.4548	7.3438|7.3438	0.26652|0.26652	0.0:0.6595:0.0:0.3405|0.0:0.6595:0.0:0.3405	.|.	1011;1127;1127|.	B7ZM67;Q4ADV7;G5E932|.	.;RIC1_HUMAN;.|.	D|R	1127;1127;1048;1048;1011|1018	.|.	ENSP00000251879:A1127D|.	A|S	+|+	2|3	0|2	KIAA1432|KIAA1432	5759212|5759212	0.973000|0.973000	0.33851|0.33851	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	1.190000|1.190000	0.32126|0.32126	1.471000|1.471000	0.48121|0.48121	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.438	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			29	240	29	240
FOCAD	54914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	20866927	20866927	+	Splice_Site	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:20866927G>A	ENST00000380249.1	+	20	2470		c.e20-1		FOCAD_ENST00000338382.6_Splice_Site|FOCAD_ENST00000605086.1_Splice_Site	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin							focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											ACCCTATCTAGGACCCAATTG	0.363																																																0													85.0	77.0	79.0					9																	20866927		2203	4299	6502	SO:0001630	splice_region_variant	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2107-1G>A	9.37:g.20866927G>A			D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Splice_Site	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.674953	0.67928	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6626	0.95878	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1797	20856927	1.000000	0.71417	0.986000	0.45419	0.764000	0.43329	6.298000	0.72763	2.715000	0.92844	0.549000	0.68633	.		0.363	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	Intron	17	56	17	56
CSF2RA	1438	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	1404769	1404769	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:1404769A>G	ENST00000381524.3	+	4	361	c.175A>G	c.(175-177)Aag>Gag	p.K59E	CSF2RA_ENST00000417535.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000494969.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.K59E|CSF2RA_ENST00000355432.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000355805.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000381529.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000361536.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000432318.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000381509.3_Missense_Mutation_p.K59E			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	59					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AACCTTCAGCAAGTGTTTCTT	0.473																																					Esophageal Squamous(131;723 1707 25334 40494 41806)											0													205.0	206.0	206.0					X																	1404769		2203	4296	6499	SO:0001583	missense	1438			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.175A>G	X.37:g.1404769A>G	ENSP00000370935:p.Lys59Glu		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.496397	0.00159	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;T;T;D;T;T;D;D	0.93953	-3.04;-3.04;-3.32;-3.04;0.92;1.91;-3.07;0.9;1.19;-2.89;-3.32	0.725	-1.45	0.08828	.	.	.	.	.	D	0.83524	0.5273	.	.	.	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.001;0.0	T	0.64892	-0.6300	7	0.22706	T	0.39	.	.	.	.	.	59;59;59;59;59;59	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	E	59	ENSP00000370940:K59E;ENSP00000416437:K59E;ENSP00000354836:K59E;ENSP00000370935:K59E;ENSP00000410667:K59E;ENSP00000397452:K59E;ENSP00000370920:K59E;ENSP00000348058:K59E;ENSP00000347606:K59E;ENSP00000394227:K59E;ENSP00000370911:K59E	ENSP00000347606:K59E	K	+	1	0	CSF2RA	1364769	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-1.152000	0.03172	-1.778000	0.01282	0.046000	0.15203	AAG		0.473	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			70	217	70	217
CXorf58	254158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	23956785	23956785	+	Silent	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:23956785T>C	ENST00000379211.3	+	8	1456	c.907T>C	c.(907-909)Ttg>Ctg	p.L303L		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	303										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AAAAGTTTATTTGGCTAAAGA	0.338																																																0													80.0	81.0	81.0					X																	23956785		2203	4300	6503	SO:0001819	synonymous_variant	0			AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.907T>C	X.37:g.23956785T>C				Silent	SNP	ENST00000379211.3	37	CCDS14209.1																																																																																				0.338	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		59	20	59	20
CTSF	8722	broad.mit.edu;ucsc.edu	37	11	66328794	66328794	+	IGR	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr11:66328794G>C	ENST00000310325.5	-	0	2035				ACTN3_ENST00000513398.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGCGGCCCAGGCCAATGCCAT	0.652																																																0													23.0	28.0	27.0					11																	66328794		2084	4246	6330	SO:0001628	intergenic_variant	89			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66328794G>C			B2R964|O95240|Q9NSU4|Q9UKQ5	RNA	SNP	ENST00000310325.5	37	CCDS8144.1																																																																																				0.652	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		10	19	10	19
TLDC1	57707	broad.mit.edu;ucsc.edu	37	16	84516258	84516258	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr16:84516258C>T	ENST00000343629.6	-	6	1199	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	TLDC1_ENST00000535580.1_Silent_p.T312T	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	339	TLD.					lysosomal membrane (GO:0005765)											CGTTGTAGCCCGTGTGTGTGT	0.552																																																0													183.0	140.0	154.0					16																	84516258		2200	4300	6500	SO:0001819	synonymous_variant	57707			AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1017G>A	16.37:g.84516258C>T			Q8IZ64|Q9HCG3|Q9NTE8	Silent	SNP	ENST00000343629.6	37	CCDS32498.1																																																																																				0.552	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		23	52	23	52
IL1R1	3554	broad.mit.edu;ucsc.edu	37	2	102785082	102785082	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:102785082T>C	ENST00000410023.1	+	7	998	c.680T>C	c.(679-681)gTg>gCg	p.V227A	IL1R1_ENST00000409329.1_Missense_Mutation_p.V227A|IL1R1_ENST00000409288.1_Missense_Mutation_p.V227A|IL1R1_ENST00000424272.1_Missense_Mutation_p.V227A|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409929.1_Missense_Mutation_p.V227A|IL1R1_ENST00000233946.3_Missense_Mutation_p.V227A			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	227	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ACAAGGCCTGTGATTGTGAGC	0.398																																																0													144.0	152.0	149.0					2																	102785082		2203	4300	6503	SO:0001583	missense	3554			M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.680T>C	2.37:g.102785082T>C	ENSP00000386380:p.Val227Ala		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	T	5.415	0.261708	0.10239	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.03663	3.85;3.85;3.85;3.85;3.85;3.85;3.85	5.26	1.23	0.21249	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.928503	0.09169	N	0.839153	T	0.04092	0.0114	L	0.47716	1.5	0.27560	N	0.95022	B;P;P	0.39737	0.226;0.607;0.685	B;B;B	0.38842	0.177;0.262;0.283	T	0.34950	-0.9808	10	0.10111	T	0.7	.	9.0104	0.36137	0.5906:0.0:0.0:0.4094	.	227;227;227	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	A	227;227;227;83;227;227;227	ENSP00000386776:V227A;ENSP00000415366:V227A;ENSP00000387131:V227A;ENSP00000410461:V83A;ENSP00000386478:V227A;ENSP00000386380:V227A;ENSP00000233946:V227A	ENSP00000233946:V227A	V	+	2	0	IL1R1	102151514	0.894000	0.30519	0.913000	0.36048	0.115000	0.19883	0.664000	0.25068	0.479000	0.27511	0.533000	0.62120	GTG		0.398	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			14	156	14	156
ZNF462	58499	broad.mit.edu;hgsc.bcm.edu	37	9	109690957	109690957	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:109690957delT	ENST00000277225.5	+	3	5053	c.4764delT	c.(4762-4764)actfs	p.T1588fs	ZNF462_ENST00000457913.1_Frame_Shift_Del_p.T1588fs|ZNF462_ENST00000441147.2_Frame_Shift_Del_p.T433fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1588					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACACGGCACTTTGGAGAAAC	0.532																																																0													80.0	74.0	76.0					9																	109690957		2203	4300	6503	SO:0001589	frameshift_variant	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4764delT	9.37:g.109690957delT	ENSP00000277225:p.Thr1588fs		Q5T0T4|Q8N408	Frame_Shift_Del	DEL	ENST00000277225.5	37	CCDS35096.1																																																																																				0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		46	68	46	68
ZNF492	57615	broad.mit.edu;hgsc.bcm.edu	37	19	22847842	22847842	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:22847842delT	ENST00000456783.2	+	4	1615	c.1371delT	c.(1369-1371)gctfs	p.A457fs	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GTGGCAAAGCTTTTAACCAGT	0.388																																																0													34.0	48.0	44.0					19																	22847842		2023	4243	6266	SO:0001589	frameshift_variant	57615			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1371delT	19.37:g.22847842delT	ENSP00000413660:p.Ala457fs		Q08EI7|Q08EI8	Frame_Shift_Del	DEL	ENST00000456783.2	37	CCDS46032.1																																																																																				0.388	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		107	35	107	35
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.F2113fs*9(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGTAGAAATGATAAATAATCGTCC	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	2	Unknown(1)|Deletion - Frameshift(1)	bone(1)|pancreas(1)																																								SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6338_6341delTTAT	X.37:g.76814307_76814310delATAA	ENSP00000362441:p.Phe2113fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		32	9	32	9
