#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
EIF3D	8664	broad.mit.edu	37	22	36919950	36919950	+	Silent	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr22:36919950C>T	ENST00000216190.8	-	5	754	c.384G>A	c.(382-384)caG>caA	p.Q128Q	EIF3D_ENST00000541106.1_Silent_p.Q79Q|EIF3D_ENST00000405442.1_Silent_p.Q128Q	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						ACCTCTCTTTCTGTTTGGCAC	0.502																																						ENST00000216190.8																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						c.(382-384)caG>caA		eukaryotic translation initiation factor 3, subunit D							194.0	161.0	172.0					22																	36919950		2203	4300	6503	SO:0001819	synonymous_variant	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36919950C>T	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.384G>A	22.37:g.36919950C>T						EIF3D_ENST00000541106.1_Silent_p.Q79Q|EIF3D_ENST00000405442.1_Silent_p.Q128Q	p.Q128Q	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN			5	754	-			128						Silent	SNP	ENST00000216190.8	37	c.384G>A	CCDS13930.1																																																																																				0.502	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			35	28	0	0	0	1	0	35	28				
COL11A1	1301	broad.mit.edu	37	1	103453188	103453188	+	Splice_Site	SNP	C	C	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:103453188C>A	ENST00000370096.3	-	30	2815		c.e30+1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CATTTACCAACCTTTTCTCCT	0.438																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.e30+1		collagen, type XI, alpha 1							82.0	78.0	80.0					1																	103453188		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103453188C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2502+1G>T	1.37:g.103453188C>A						COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site		NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	30	2856	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)						B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37		CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341892	0.41498	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.507	0.87748	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103225776	1.000000	0.71417	0.985000	0.45067	0.247000	0.25773	6.819000	0.75262	2.417000	0.82017	0.460000	0.39030	.		0.438	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	8	26	1	0	0.0381472	1	0.0387625	8	26				
CEACAM21	90273	broad.mit.edu	37	19	42091840	42091840	+	Missense_Mutation	SNP	C	C	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:42091840C>G	ENST00000401445.2	+	5	868	c.842C>G	c.(841-843)tCc>tGc	p.S281C	CEACAM21_ENST00000407170.2_Missense_Mutation_p.S153C|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S280C			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	281						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCCCCAGCCTCCACCCCCGGT	0.572																																						ENST00000407170.2																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(457-459)tCc>tGc		carcinoembryonic antigen-related cell adhesion molecule 21							53.0	63.0	60.0					19																	42091840		2183	4297	6480	SO:0001583	missense	90273					integral to membrane		g.chr19:42091840C>G	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.842C>G	19.37:g.42091840C>G	ENSP00000385739:p.Ser281Cys					CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S280C|CEACAM21_ENST00000401445.2_Missense_Mutation_p.S281C	p.S153C			Q3KPI0	CEA21_HUMAN			6	1271	+			281			Ig-like C2-type.		B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	ENST00000401445.2	37	c.458C>G	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	C	5.124	0.208484	0.09757	.	.	ENSG00000007129	ENST00000407170;ENST00000187608;ENST00000401445	T;T;T	0.35973	2.53;1.28;1.3	1.18	1.18	0.20946	.	.	.	.	.	T	0.43033	0.1229	M	0.72353	2.195	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.52514	0.701;0.506	T	0.43653	-0.9378	9	0.62326	D	0.03	.	5.8853	0.18878	0.0:1.0:0.0:0.0	.	280;281	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	C	153;280;281	ENSP00000384380:S153C;ENSP00000187608:S280C;ENSP00000385739:S281C	ENSP00000187608:S280C	S	+	2	0	CEACAM21	46783680	0.002000	0.14202	0.002000	0.10522	0.232000	0.25224	0.207000	0.17395	0.983000	0.38602	0.123000	0.15791	TCC		0.572	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543		31	43	0	0	0	1	0	31	43				
CROCC	9696	broad.mit.edu	37	1	17270624	17270624	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:17270624A>G	ENST00000375541.5	+	14	1907	c.1838A>G	c.(1837-1839)cAg>cGg	p.Q613R	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CACAGCCTGCAGGTGGCCCAG	0.697																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1837-1839)cAg>cGg		ciliary rootlet coiled-coil, rootletin																																				SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17270624A>G	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1838A>G	1.37:g.17270624A>G	ENSP00000364691:p.Gln613Arg					CROCC_ENST00000467938.1_3'UTR	p.Q613R	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	14	1907	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	613						Missense_Mutation	SNP	ENST00000375541.5	37	c.1838A>G	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.109073	0.56398	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10860	2.83	4.48	4.48	0.54585	.	.	.	.	.	T	0.23532	0.0569	M	0.74881	2.28	0.41978	D	0.990783	D;B	0.60575	0.988;0.449	P;B	0.58721	0.844;0.202	T	0.03103	-1.1072	9	0.23302	T	0.38	.	9.4228	0.38561	0.8405:0.0:0.0:0.1595	.	476;613	A1L0S8;Q5TZA2	.;CROCC_HUMAN	R	613;494	ENSP00000364691:Q613R	ENSP00000364691:Q613R	Q	+	2	0	CROCC	17143211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.166000	0.58203	1.968000	0.57251	0.459000	0.35465	CAG		0.697	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		3	13	0	0	0	1	0	3	13				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	128	0	0	0	1	0	5	128				
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		139	Substitution - Missense(138)|Unknown(1)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1513-1515)Cgc>Ggc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly					FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G	p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2742	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			36	44	0	0	0	1	0	36	44				
KRTAP4-8	728224	broad.mit.edu	37	17	39254021	39254021	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr17:39254021C>T	ENST00000333822.4	-	1	372	c.316G>A	c.(316-318)Gtg>Atg	p.V106M		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	106	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						cagctggacacacagcagctg	0.672																																						ENST00000333822.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(316-318)Gtg>Atg		keratin associated protein 4-8							5.0	7.0	6.0					17																	39254021		655	1529	2184	SO:0001583	missense	728224					keratin filament		g.chr17:39254021C>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.316G>A	17.37:g.39254021C>T	ENSP00000328444:p.Val106Met						p.V106M	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	372	-			106			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.316G>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.12	2.738646	0.49045	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.00617	6.19	3.21	1.06	0.20224	.	1.219990	0.06472	U	0.731335	T	0.01489	0.0048	M	0.77616	2.38	0.09310	N	1	P	0.44309	0.832	B	0.43413	0.419	T	0.47971	-0.9075	10	0.49607	T	0.09	.	7.6941	0.28585	0.0:0.786:0.0:0.214	.	106	Q9BYQ9	KRA48_HUMAN	M	106;91	ENSP00000328444:V106M	ENSP00000414561:V91M	V	-	1	0	KRTAP4-8	36507547	0.000000	0.05858	0.001000	0.08648	0.988000	0.76386	-1.826000	0.01705	0.172000	0.19760	0.449000	0.29647	GTG		0.672	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	67	0	0	0	1	0	4	67				
C5orf46	389336	broad.mit.edu	37	5	147281275	147281275	+	Silent	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr5:147281275G>A	ENST00000318315.4	-	2	132	c.132C>T	c.(130-132)gaC>gaT	p.D44D	C5orf46_ENST00000510432.1_5'UTR|C5orf46_ENST00000515291.1_Silent_p.D44D	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	44						extracellular vesicular exosome (GO:0070062)				NS(1)|lung(1)|prostate(1)	3						ATTTGGGGAAGTCTGGCTTTG	0.502																																						ENST00000515291.1																			0				NS(1)|lung(1)|prostate(1)	3						c.(130-132)gaC>gaT		chromosome 5 open reading frame 46							247.0	220.0	229.0					5																	147281275		2203	4300	6503	SO:0001819	synonymous_variant	389336					extracellular region		g.chr5:147281275G>A		CCDS34267.1	5q33.1	2013-12-13			ENSG00000178776	ENSG00000178776			33768	protein-coding gene	gene with protein product	"""skin and saliva secreted protein 1"""						Standard	NM_206966		Approved	MGC23985, SSSP1	uc003lou.3	Q6UWT4	OTTHUMG00000163420	ENST00000318315.4:c.132C>T	5.37:g.147281275G>A						C5orf46_ENST00000318315.4_Silent_p.D44D|C5orf46_ENST00000510432.1_5'UTR	p.D44D			Q6UWT4	CE046_HUMAN			2	168	-			44					A8K038|Q8WU04	Silent	SNP	ENST00000318315.4	37	c.132C>T	CCDS34267.1																																																																																				0.502	C5orf46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373314.1	NM_206966		11	21	0	0	0	1	0	11	21				
ADAMTS2	9509	broad.mit.edu	37	5	178557078	178557078	+	Missense_Mutation	SNP	C	C	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr5:178557078C>A	ENST00000251582.7	-	16	2413	c.2312G>T	c.(2311-2313)gGc>gTc	p.G771V		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	771	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GATGAACTTGCCTGTCTCCAG	0.572																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2311-2313)gGc>gTc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							100.0	87.0	92.0					5																	178557078		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178557078C>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2312G>T	5.37:g.178557078C>A	ENSP00000251582:p.Gly771Val						p.G771V	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	16	2413	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	771			Spacer.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2312G>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064342	0.76187	.	.	ENSG00000087116	ENST00000251582	T	0.57907	0.37	5.09	5.09	0.68999	ADAM-TS Spacer 1 (1);	0.000000	0.56097	D	0.000039	T	0.77003	0.4067	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81404	-0.0948	10	0.72032	D	0.01	.	17.8402	0.88713	0.0:1.0:0.0:0.0	.	771	O95450	ATS2_HUMAN	V	771	ENSP00000251582:G771V	ENSP00000251582:G771V	G	-	2	0	ADAMTS2	178489684	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.710000	0.68392	2.523000	0.85059	0.462000	0.41574	GGC		0.572	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		33	2	1	0	6.70999e-13	1	7.28843e-13	33	2				
PALLD	23022	broad.mit.edu	37	4	169825035	169825035	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr4:169825035C>T	ENST00000505667.1	+	15	2773	c.2600C>T	c.(2599-2601)aCa>aTa	p.T867I	PALLD_ENST00000512127.1_Missense_Mutation_p.T468I|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.T363I|PALLD_ENST00000261509.6_Missense_Mutation_p.T850I|PALLD_ENST00000335742.7_Missense_Mutation_p.T692I			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1074	Interaction with ACTN.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GGGAATTATACAATTATGGCT	0.443									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(2074-2076)aCa>aTa		palladin, cytoskeletal associated protein							103.0	105.0	104.0					4																	169825035		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169825035C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2600C>T	4.37:g.169825035C>T	ENSP00000425556:p.Thr867Ile					PALLD_ENST00000512127.1_Missense_Mutation_p.T468I|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000505667.1_Missense_Mutation_p.T867I|PALLD_ENST00000507735.1_Missense_Mutation_p.T363I|PALLD_ENST00000261509.6_Missense_Mutation_p.T850I	p.T692I			Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	15	3432	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1074			Interaction with ARGBP2, SPIN90 and SRC.|Pro-rich.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.2075C>T	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829776	0.71258	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000393726;ENST00000507735	T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;1.36;-0.89	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32901	U	0.005515	D	0.86564	0.5963	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.86937	0.2077	10	0.62326	D	0.03	.	19.277	0.94036	0.0:1.0:0.0:0.0	.	867;1074;468;850	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	I	850;692;867;468;143;363	ENSP00000261509:T850I;ENSP00000336735:T692I;ENSP00000425556:T867I;ENSP00000426947:T468I;ENSP00000377327:T143I;ENSP00000424016:T363I	ENSP00000261509:T850I	T	+	2	0	PALLD	170061610	1.000000	0.71417	0.843000	0.33291	0.011000	0.07611	7.644000	0.83416	2.782000	0.95742	0.655000	0.94253	ACA		0.443	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		14	20	0	0	0	1	0	14	20				
PEPD	5184	broad.mit.edu	37	19	34003603	34003603	+	Missense_Mutation	SNP	G	G	C	rs61734503		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:34003603G>C	ENST00000244137.7	-	2	130	c.97C>G	c.(97-99)Cgg>Ggg	p.R33G	PEPD_ENST00000436370.3_Missense_Mutation_p.R33G|PEPD_ENST00000397032.4_Missense_Mutation_p.R33G	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	33					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					TTCCGCAGCCGCTCACACAGG	0.647																																						ENST00000244137.6																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17						c.(97-99)Cgg>Ggg		peptidase D							30.0	34.0	32.0					19																	34003603		2004	4178	6182	SO:0001583	missense	5184				cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	g.chr19:34003603G>C	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.97C>G	19.37:g.34003603G>C	ENSP00000244137:p.Arg33Gly					PEPD_ENST00000436370.3_Missense_Mutation_p.R33G|PEPD_ENST00000397032.4_Missense_Mutation_p.R33G	p.R33G	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN			2	130	-	Esophageal squamous(110;0.137)		33					A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	ENST00000244137.7	37	c.97C>G	CCDS42544.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666274	0.29604	.	.	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	T;T;T	0.77098	-1.07;-1.07;-1.07	4.62	3.55	0.40652	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.055300	0.64402	D	0.000001	T	0.71074	0.3297	L	0.54908	1.71	0.80722	D	1	B;B;B	0.15473	0.01;0.013;0.012	B;B;B	0.18871	0.019;0.023;0.013	T	0.65557	-0.6139	10	0.33141	T	0.24	-17.3612	10.8423	0.46722	0.0:0.0:0.6449:0.355	.	33;33;33	E9PCE8;A8MX47;P12955	.;.;PEPD_HUMAN	G	33	ENSP00000244137:R33G;ENSP00000380226:R33G;ENSP00000391890:R33G	ENSP00000244137:R33G	R	-	1	2	PEPD	38695443	1.000000	0.71417	0.986000	0.45419	0.940000	0.58332	3.275000	0.51639	1.013000	0.39391	0.313000	0.20887	CGG		0.647	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		12	48	0	0	0	1	0	12	48				
PPP1R18	170954	broad.mit.edu	37	6	30647013	30647013	+	Silent	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr6:30647013G>A	ENST00000274853.3	-	2	3641	c.1765C>T	c.(1765-1767)Ctg>Ttg	p.L589L	PPP1R18_ENST00000488324.1_5'UTR|PPP1R18_ENST00000399199.3_Silent_p.L589L	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	589						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGCAGCAGCAGCTCTTCCTCA	0.692																																						ENST00000274853.3																			0											c.(1765-1767)Ctg>Ttg		protein phosphatase 1, regulatory subunit 18							40.0	44.0	43.0					6																	30647013		1207	2511	3718	SO:0001819	synonymous_variant	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30647013G>A	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.1765C>T	6.37:g.30647013G>A						PPP1R18_ENST00000399199.3_Silent_p.L589L|PPP1R18_ENST00000488324.1_5'UTR	p.L589L	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			2	3641	-			589					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Silent	SNP	ENST00000274853.3	37	c.1765C>T	CCDS43444.1																																																																																				0.692	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		24	51	0	0	0	1	0	24	51				
NBPF10	100132406	broad.mit.edu	37	1	145293414	145293414	+	Silent	SNP	A	A	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:145293414A>G	ENST00000369339.3	+	3	262	c.9A>G	c.(7-9)gtA>gtG	p.V3V	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.V3V|NBPF10_ENST00000369338.1_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	274						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCATGGTGGTATCAGCCGGCC	0.493																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(7-9)gtA>gtG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145293414A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.9A>G	1.37:g.145293414A>G						NBPF10_ENST00000369339.2_Silent_p.V3V|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron	p.V3V	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	44	+	all_hematologic(923;0.032)		3					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.9A>G																																																																																					0.493	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		45	1300	0	0	0	1	0	45	1300				
PIGR	5284	broad.mit.edu	37	1	207110846	207110846	+	Silent	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:207110846G>A	ENST00000356495.4	-	4	822	c.639C>T	c.(637-639)agC>agT	p.S213S		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	213	Ig-like V-type 2.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCCAGCATCGCTGAGCCTGA	0.483																																						ENST00000356495.4																			0				central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(637-639)agC>agT		polymeric immunoglobulin receptor							71.0	68.0	69.0					1																	207110846		2203	4300	6503	SO:0001819	synonymous_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207110846G>A		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.639C>T	1.37:g.207110846G>A							p.S213S	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN			4	822	-			213			Ig-like V-type 2.		Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	37	c.639C>T	CCDS1474.1																																																																																				0.483	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		23	68	0	0	0	1	0	23	68				
PPP2R1A	5518	broad.mit.edu	37	19	52723052	52723052	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:52723052G>A	ENST00000322088.6	+	10	1295	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.E358K|CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.E234K	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	413	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GGAGCTGGCTGAGGACGCCAA	0.627			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(1237-1239)Gag>Aag		protein phosphatase 2, regulatory subunit A, alpha							65.0	59.0	61.0					19																	52723052		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52723052G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1237G>A	19.37:g.52723052G>A	ENSP00000324804:p.Glu413Lys					PPP2R1A_ENST00000444322.2_Missense_Mutation_p.E358K|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.E234K	p.E413K	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	10	1295	+			413			PP2A subunit C binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.1237G>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067156	0.76301	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16597	2.33;2.33	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000009	T	0.21145	0.0509	L	0.58354	1.805	0.80722	D	1	B;B	0.22080	0.064;0.014	B;B	0.22880	0.042;0.009	T	0.03287	-1.1052	10	0.62326	D	0.03	-33.2243	15.5205	0.75862	0.0:0.0:1.0:0.0	.	358;413	F5H3X9;P30153	.;2AAA_HUMAN	K	403;333;413;358	ENSP00000324804:E413K;ENSP00000415067:E358K	ENSP00000324804:E413K	E	+	1	0	PPP2R1A	57414864	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	8.647000	0.91057	2.605000	0.88082	0.655000	0.94253	GAG		0.627	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		20	33	0	0	0	1	0	20	33				
THSD7B	80731	broad.mit.edu	37	2	137917826	137917826	+	Silent	SNP	G	G	A	rs376181717		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr2:137917826G>A	ENST00000409968.1	+	6	1591	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P	THSD7B_ENST00000413152.2_Silent_p.P440P|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.P471P			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	471	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACCCGCCCCGTTGCCCTCTC	0.512																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(1411-1413)ccG>ccA		thrombospondin, type I, domain containing 7B		G		1,4039		0,1,2019	166.0	165.0	165.0		1320	-1.0	0.0	2		165	0,8336		0,0,4168	no	coding-synonymous	THSD7B	NM_001080427.1		0,1,6187	AA,AG,GG		0.0,0.0248,0.0081		440/1578	137917826	1,12375	2020	4168	6188	SO:0001819	synonymous_variant	80731							g.chr2:137917826G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1413G>A	2.37:g.137917826G>A						THSD7B_ENST00000413152.2_Silent_p.P440P|THSD7B_ENST00000272643.3_Silent_p.P471P|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron	p.P471P						BRCA - Breast invasive adenocarcinoma(221;0.19)	6	1591	+									Silent	SNP	ENST00000409968.1	37	c.1413G>A																																																																																					0.512	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		39	48	0	0	0	1	0	39	48				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	1	0	0	0	1	0	45	1				
ZNF324	25799	broad.mit.edu	37	19	58982178	58982178	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:58982178A>G	ENST00000536459.2	+	4	1028	c.319A>G	c.(319-321)Act>Gct	p.T107A	ZNF324_ENST00000196482.3_Missense_Mutation_p.T107A|ZNF324_ENST00000535298.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TGGGATGACTACTAGCGTCTT	0.552																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(319-321)Act>Gct		zinc finger protein 324							95.0	103.0	100.0					19																	58982178		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982178A>G	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.319A>G	19.37:g.58982178A>G	ENSP00000444812:p.Thr107Ala					ZNF324_ENST00000196482.3_Missense_Mutation_p.T107A	p.T107A			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1028	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	107					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.319A>G	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.578572	0.00879	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.05319	3.46;3.46	3.29	-6.59	0.01830	.	1.059120	0.07536	N	0.912982	T	0.02380	0.0073	N	0.11201	0.11	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.38045	-0.9679	10	0.11794	T	0.64	.	2.9068	0.05723	0.1258:0.3737:0.311:0.1895	.	107	O75467	Z324A_HUMAN	A	107;107;107;97	ENSP00000196482:T107A;ENSP00000444812:T107A	ENSP00000196482:T107A	T	+	1	0	ZNF324	63673990	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.038000	0.00308	-3.546000	0.00143	-0.421000	0.06004	ACT		0.552	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		5	122	0	0	0	1	0	5	122				
DNAH11	8701	broad.mit.edu	37	7	21757493	21757493	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr7:21757493A>G	ENST00000409508.3	+	43	7115	c.7084A>G	c.(7084-7086)Aga>Gga	p.R2362G	DNAH11_ENST00000328843.6_Missense_Mutation_p.R2369G	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2369	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGATAAACTGAGAACAAGCTT	0.423									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(7105-7107)Aga>Gga		dynein, axonemal, heavy chain 11							159.0	152.0	154.0					7																	21757493		1895	4113	6008	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21757493A>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7084A>G	7.37:g.21757493A>G	ENSP00000475939:p.Arg2362Gly					DNAH11_ENST00000409508.3_Missense_Mutation_p.R2362G	p.R2369G			Q96DT5	DYH11_HUMAN			44	7136	+			2369			AAA 2 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7105A>G		.	.	.	.	.	.	.	.	.	.	A	14.84	2.655051	0.47467	.	.	ENSG00000105877	ENST00000328843	T	0.27720	1.65	5.82	4.63	0.57726	.	0.053282	0.64402	D	0.000003	T	0.49983	0.1589	.	.	.	0.47737	D	0.999501	D	0.71674	0.998	P	0.59825	0.864	T	0.52646	-0.8548	9	0.62326	D	0.03	.	12.0672	0.53594	0.8557:0.1443:0.0:0.0	.	2369	Q96DT5	DYH11_HUMAN	G	2369	ENSP00000330671:R2369G	ENSP00000330671:R2369G	R	+	1	2	DNAH11	21724018	1.000000	0.71417	0.994000	0.49952	0.339000	0.28857	3.876000	0.56115	0.980000	0.38523	0.455000	0.32223	AGA		0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	79	0	0	0	1	0	4	79				
BAI3	577	broad.mit.edu	37	6	70070975	70070975	+	Missense_Mutation	SNP	G	G	C			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr6:70070975G>C	ENST00000370598.1	+	29	4631	c.3810G>C	c.(3808-3810)ttG>ttC	p.L1270F	BAI3_ENST00000546190.1_Missense_Mutation_p.L234F|BAI3_ENST00000238918.8_Missense_Mutation_p.L476F	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1270					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCCATGTTTGAAAAAAGAAA	0.403																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3808-3810)ttG>ttC		brain-specific angiogenesis inhibitor 3							92.0	86.0	88.0					6																	70070975		2203	4299	6502	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70070975G>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3810G>C	6.37:g.70070975G>C	ENSP00000359630:p.Leu1270Phe					BAI3_ENST00000238918.8_Missense_Mutation_p.L476F|BAI3_ENST00000546190.1_Missense_Mutation_p.L234F	p.L1270F	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			29	4631	+		all_lung(197;0.212)	1270					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3810G>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419335	0.25552	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.06142	3.34;3.34;3.34	5.58	2.72	0.32119	.	0.252397	0.39985	N	0.001218	T	0.03136	0.0092	L	0.55990	1.75	0.43642	D	0.996043	P;P	0.44877	0.845;0.779	B;B	0.41135	0.348;0.125	T	0.45101	-0.9284	10	0.56958	D	0.05	.	7.9951	0.30263	0.143:0.0:0.7285:0.1285	.	476;1270	B7Z356;O60242	.;BAI3_HUMAN	F	1270;476;234	ENSP00000359630:L1270F;ENSP00000238918:L476F;ENSP00000441821:L234F	ENSP00000238918:L476F	L	+	3	2	BAI3	70127696	1.000000	0.71417	0.992000	0.48379	0.379000	0.30106	2.454000	0.44979	0.342000	0.23796	-0.218000	0.12543	TTG		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			11	17	0	0	0	1	0	11	17				
PLAA	9373	broad.mit.edu	37	9	26919455	26919455	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:26919455C>T	ENST00000397292.3	-	9	1687	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	PLAA_ENST00000520884.1_Missense_Mutation_p.D424N|PLAA_ENST00000520641.1_5'UTR	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	424	PFU. {ECO:0000255|PROSITE- ProRule:PRU00727}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CAAGGGTCATCACTGGTATTA	0.313																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1270-1272)Gat>Aat		phospholipase A2-activating protein							183.0	191.0	188.0					9																	26919455		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26919455C>T	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1270G>A	9.37:g.26919455C>T	ENSP00000380460:p.Asp424Asn					PLAA_ENST00000520641.1_5'UTR|PLAA_ENST00000520884.1_Missense_Mutation_p.D424N	p.D424N	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	9	1687	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	424			PFU.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1270G>A	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509363	0.85282	.	.	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.60920	0.15;0.3	5.72	5.72	0.89469	PLAA family ubiquitin binding, PFU (2);	0.094616	0.64402	D	0.000001	T	0.75177	0.3814	M	0.84219	2.685	0.80722	D	1	P;P	0.47484	0.896;0.837	P;P	0.54060	0.721;0.741	T	0.78383	-0.2225	10	0.87932	D	0	-19.0419	19.8711	0.96851	0.0:1.0:0.0:0.0	.	424;424	E5RIM3;Q9Y263	.;PLAP_HUMAN	N	424	ENSP00000380460:D424N;ENSP00000429372:D424N	ENSP00000380460:D424N	D	-	1	0	PLAA	26909455	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.699000	0.68310	2.689000	0.91719	0.591000	0.81541	GAT		0.313	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		34	69	0	0	0	1	0	34	69				
NAA35	60560	broad.mit.edu	37	9	88593281	88593281	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:88593281G>A	ENST00000361671.5	+	11	995	c.862G>A	c.(862-864)Gat>Aat	p.D288N	NAA35_ENST00000376040.1_Missense_Mutation_p.D288N	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	288					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GGCCCAGAATGATACTACAAA	0.373																																						ENST00000361671.5																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(862-864)Gat>Aat		N(alpha)-acetyltransferase 35, NatC auxiliary subunit							125.0	120.0	122.0					9																	88593281		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88593281G>A	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.862G>A	9.37:g.88593281G>A	ENSP00000354972:p.Asp288Asn					NAA35_ENST00000376040.1_Missense_Mutation_p.D288N	p.D288N	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN			11	995	+			288					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.862G>A	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312641	0.40895	.	.	ENSG00000135040	ENST00000361671;ENST00000376040	.	.	.	5.88	5.88	0.94601	.	0.174789	0.49916	D	0.000132	T	0.47210	0.1433	N	0.19112	0.55	0.80722	D	1	P;B	0.35155	0.487;0.081	B;B	0.37387	0.248;0.012	T	0.33240	-0.9876	9	0.16420	T	0.52	-8.6431	20.2381	0.98363	0.0:0.0:1.0:0.0	.	288;288	Q5VZE6;Q5VZE5	.;NAA35_HUMAN	N	288	.	ENSP00000354972:D288N	D	+	1	0	NAA35	87783101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.328000	0.96403	2.779000	0.95612	0.650000	0.86243	GAT		0.373	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		15	22	0	0	0	1	0	15	22				
TTN	7273	broad.mit.edu	37	2	179472319	179472319	+	Missense_Mutation	SNP	C	C	T	rs72646808	byFrequency	TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr2:179472319C>T	ENST00000591111.1	-	227	48397	c.48173G>A	c.(48172-48174)cGc>cAc	p.R16058H	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8634H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8759H|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15131H|TTN_ENST00000342175.6_Missense_Mutation_p.R8826H|TTN_ENST00000589042.1_Missense_Mutation_p.R17699H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16058	Ig-like 99.		R -> H. {ECO:0000269|PubMed:17344846}.		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)	p.R15131H(2)|p.R8826H(1)|p.R8759H(1)|p.R8634H(1)		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)			AGGTACAGGGCGACCAGTCAC	0.448													C|||	6	0.00119808	0.0008	0.0014	5008	,	,		16817	0.0		0.003	False		,,,				2504	0.001					ENST00000589042.1																			5	Substitution - Missense(5)	p.R15131H(2)|p.R8826H(1)|p.R8759H(1)|p.R8634H(1)	lung(5)	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						c.(53095-53097)cGc>cAc		titin		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,3750		0,2,1874	281.0	266.0	271.0		25901,45392,26276,26477	6.0	1.0	2	dbSNP_130	271	25,8189		0,25,4082	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,27,5956	TT,TC,CC		0.3044,0.0533,0.2256	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8634/26927,15131/33424,8759/27052,8826/27119	179472319	27,11939	1876	4107	5983	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179472319C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48173G>A	2.37:g.179472319C>T	ENSP00000465570:p.Arg16058His					TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8634H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16058H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8759H|TTN_ENST00000342992.6_Missense_Mutation_p.R15131H|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8826H|TTN-AS1_ENST00000589234.1_RNA	p.R17699H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		277	53320	-			16058			Fibronectin type-III 28.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.53096G>A		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	12.60	1.987804	0.35036	5.33E-4	0.003044	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77054	0.4074	L	0.35723	1.085	0.52099	D	0.99994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.971;0.971;0.971;0.984	T	0.77621	-0.2519	9	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	8634;8759;8826;16058	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15131;8634;8826;8759;8634	ENSP00000343764:R15131H;ENSP00000434586:R8634H;ENSP00000340554:R8826H;ENSP00000352154:R8759H	ENSP00000340554:R8826H	R	-	2	0	TTN	179180564	1.000000	0.71417	0.970000	0.41538	0.837000	0.47467	4.428000	0.59894	2.840000	0.97914	0.655000	0.94253	CGC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		201	206	0	0	0	1	0	201	206				
AP1B1	162	broad.mit.edu	37	22	29754889	29754889	+	Silent	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr22:29754889C>T	ENST00000405198.1	-	4	382	c.351G>A	c.(349-351)aaG>aaA	p.K117K	AP1B1_ENST00000357586.2_Silent_p.K117K|AP1B1_ENST00000402502.1_Silent_p.K117K|AP1B1_ENST00000432560.2_Silent_p.K117K|AP1B1_ENST00000356015.2_Silent_p.K117K|AP1B1_ENST00000415447.1_Silent_p.K117K|AP1B1_ENST00000317368.7_Silent_p.K117K			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	117					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACTCTGTGATCTTGTCAACGC	0.627																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(349-351)aaG>aaA		adaptor-related protein complex 1, beta 1 subunit							82.0	60.0	68.0					22																	29754889		2203	4300	6503	SO:0001819	synonymous_variant	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29754889C>T	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.351G>A	22.37:g.29754889C>T						AP1B1_ENST00000415447.1_Silent_p.K117K|AP1B1_ENST00000405198.1_Silent_p.K117K|AP1B1_ENST00000356015.2_Silent_p.K117K|AP1B1_ENST00000432560.2_Silent_p.K117K|AP1B1_ENST00000317368.7_Silent_p.K117K|AP1B1_ENST00000402502.1_Silent_p.K117K	p.K117K	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			5	537	-			117					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	c.351G>A	CCDS13855.1																																																																																				0.627	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		8	13	0	0	0	1	0	8	13				
DHH	50846	broad.mit.edu	37	12	49488228	49488228	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr12:49488228C>T	ENST00000266991.2	-	1	374	c.68G>A	c.(67-69)tGc>tAc	p.C23Y	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	23					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						gcccggcccgcAGCTCTGGGC	0.672																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(67-69)tGc>tAc		desert hedgehog							5.0	6.0	5.0					12																	49488228		1903	3763	5666	SO:0001583	missense	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49488228C>T	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.68G>A	12.37:g.49488228C>T	ENSP00000266991:p.Cys23Tyr						p.C23Y	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN			1	374	-			23					Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	c.68G>A	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394954	0.83011	.	.	ENSG00000139549	ENST00000266991	D	0.99671	-6.35	5.15	5.15	0.70609	Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	M	0.93106	3.38	0.80722	D	1	D	0.69078	0.997	D	0.87578	0.998	D	0.97423	1.0010	10	0.87932	D	0	-1.1021	17.4475	0.87583	0.0:1.0:0.0:0.0	.	23	O43323	DHH_HUMAN	Y	23	ENSP00000266991:C23Y	ENSP00000266991:C23Y	C	-	2	0	DHH	47774495	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.523000	0.81856	2.422000	0.82143	0.456000	0.33151	TGC		0.672	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		10	11	0	0	0	1	0	10	11				
WRN	7486	broad.mit.edu	37	8	30924601	30924601	+	Missense_Mutation	SNP	G	G	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr8:30924601G>T	ENST00000298139.5	+	6	806	c.557G>T	c.(556-558)gGt>gTt	p.G186V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	186	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CACCTCTTAGGTAAACAGCTC	0.418			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(556-558)gGt>gTt	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							101.0	88.0	93.0					8																	30924601		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30924601G>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.557G>T	8.37:g.30924601G>T	ENSP00000298139:p.Gly186Val						p.G186V	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	6	806	+		Breast(100;0.195)	186			3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.557G>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487371	0.44249	.	.	ENSG00000165392	ENST00000298139	T	0.69806	-0.43	5.82	3.07	0.35406	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.507499	0.22481	N	0.059482	T	0.80824	0.4697	M	0.91561	3.22	0.19300	N	0.999979	D	0.64830	0.994	P	0.60473	0.875	T	0.71813	-0.4479	10	0.66056	D	0.02	-5.2686	8.2442	0.31677	0.364:0.0:0.636:0.0	.	186	Q14191	WRN_HUMAN	V	186	ENSP00000298139:G186V	ENSP00000298139:G186V	G	+	2	0	WRN	31044143	0.147000	0.22687	0.136000	0.22124	0.738000	0.42128	2.329000	0.43876	0.812000	0.34326	0.561000	0.74099	GGT		0.418	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			24	0	1	0	2.89027e-11	1	3.08622e-11	24	0				
RFX1	5989	broad.mit.edu	37	19	14090342	14090342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:14090342G>A	ENST00000254325.4	-	7	985	c.751C>T	c.(751-753)Cag>Tag	p.Q251*		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	251					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GGAGTGGCCTGGACCACAGAT	0.622																																						ENST00000254325.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(751-753)Cag>Tag		regulatory factor X, 1 (influences HLA class II expression)							50.0	55.0	53.0					19																	14090342		2203	4300	6503	SO:0001587	stop_gained	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14090342G>A		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.751C>T	19.37:g.14090342G>A	ENSP00000254325:p.Gln251*						p.Q251*	NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		7	985	-			251						Nonsense_Mutation	SNP	ENST00000254325.4	37	c.751C>T	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	40	8.389424	0.98789	.	.	ENSG00000132005	ENST00000254325	.	.	.	4.7	4.7	0.59300	.	0.105638	0.41194	D	0.000927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-14.5972	14.5633	0.68156	0.0:0.0:1.0:0.0	.	.	.	.	X	251	.	ENSP00000254325:Q251X	Q	-	1	0	RFX1	13951342	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.638000	0.83328	2.153000	0.67306	0.561000	0.74099	CAG		0.622	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		97	74	0	0	0	1	0	97	74				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	34	0	0	0	1	0	3	34				
RNASE2	6036	broad.mit.edu	37	14	21423973	21423973	+	Silent	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr14:21423973C>T	ENST00000304625.2	+	2	133	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	15					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TCTGCTTCTTCTGTTGGGGCT	0.463																																						ENST00000304625.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17						c.(43-45)Ctg>Ttg		ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)							88.0	95.0	93.0					14																	21423973		2203	4297	6500	SO:0001819	synonymous_variant	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21423973C>T	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.43C>T	14.37:g.21423973C>T							p.L15L	NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	133	+	all_cancers(95;0.00381)		15					Q52M39|Q9H2B7|Q9UCG7	Silent	SNP	ENST00000304625.2	37	c.43C>T	CCDS9561.1																																																																																				0.463	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			31	111	0	0	0	1	0	31	111				
ITPR1	3708	broad.mit.edu	37	3	4716886	4716886	+	Silent	SNP	G	G	A	rs562572079		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr3:4716886G>A	ENST00000443694.2	+	20	2688	c.2688G>A	c.(2686-2688)gcG>gcA	p.A896A	ITPR1_ENST00000354582.6_Silent_p.A911A|ITPR1_ENST00000302640.8_Silent_p.A896A|ITPR1_ENST00000456211.2_Silent_p.A896A|ITPR1_ENST00000357086.4_Silent_p.A911A|ITPR1_ENST00000423119.2_Silent_p.A911A|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	911					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCAAGATGGCGAAAGGAGAAG	0.443																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(2731-2733)gcG>gcA		inositol 1,4,5-trisphosphate receptor, type 1							132.0	122.0	125.0					3																	4716886		1947	4140	6087	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4716886G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2688G>A	3.37:g.4716886G>A						ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.A911A|ITPR1_ENST00000443694.2_Silent_p.A896A|ITPR1_ENST00000456211.2_Silent_p.A896A|ITPR1_ENST00000302640.8_Silent_p.A896A|ITPR1_ENST00000423119.2_Silent_p.A911A	p.A911A			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	23	3083	+			911					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.2733G>A	CCDS54551.1																																																																																				0.443	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		25	38	0	0	0	1	0	25	38				
TET3	200424	broad.mit.edu	37	2	74329129	74329129	+	Missense_Mutation	SNP	G	G	C			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr2:74329129G>C	ENST00000409262.3	+	9	4809	c.4809G>C	c.(4807-4809)aaG>aaC	p.K1603N		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1603					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGAGGCCAAGCTCTACGGGA	0.687																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(4807-4809)aaG>aaC		tet methylcytosine dioxygenase 3							12.0	16.0	14.0					2																	74329129		2021	4157	6178	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74329129G>C		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4809G>C	2.37:g.74329129G>C	ENSP00000386869:p.Lys1603Asn						p.K1603N	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			9	4809	+			1603					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.4809G>C	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503536	0.26949	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.15256	2.44	5.18	4.29	0.51040	.	0.052219	0.85682	D	0.000000	T	0.12817	0.0311	L	0.52905	1.665	0.53005	D	0.999962	P	0.47191	0.891	B	0.36418	0.224	T	0.01688	-1.1295	10	0.29301	T	0.29	.	7.2948	0.26387	0.2345:0.0:0.7655:0.0	.	1603	O43151	TET3_HUMAN	N	1603;1487	ENSP00000386869:K1603N	ENSP00000233310:K1487N	K	+	3	2	TET3	74182637	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.416000	0.59815	2.707000	0.92482	0.655000	0.94253	AAG		0.687	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			16	23	0	0	0	1	0	16	23				
OR51A4	401666	broad.mit.edu	37	11	4967462	4967462	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr11:4967462G>A	ENST00000380373.2	-	1	894	c.869C>T	c.(868-870)cCa>cTa	p.P290L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAAACAATTGGGTTCGTCAG	0.423																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(868-870)cCa>cTa		olfactory receptor, family 51, subfamily A, member 4							158.0	156.0	157.0					11																	4967462		2200	4298	6498	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967462G>A	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.869C>T	11.37:g.4967462G>A	ENSP00000369731:p.Pro290Leu					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.P290L	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	894	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	290						Missense_Mutation	SNP	ENST00000380373.2	37	c.869C>T	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952318	0.73787	.	.	ENSG00000205497	ENST00000380373	D	0.98807	-5.15	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.99013	0.9663	M	0.93898	3.47	0.51767	D	0.999937	D	0.56287	0.975	P	0.55011	0.766	D	0.99391	1.0925	9	0.87932	D	0	.	13.6431	0.62265	0.0:0.0:1.0:0.0	.	290	Q8NGJ6	O51A4_HUMAN	L	290	ENSP00000369731:P290L	ENSP00000369731:P290L	P	-	2	0	OR51A4	4924038	1.000000	0.71417	0.250000	0.24296	0.785000	0.44390	7.012000	0.76366	1.823000	0.53134	0.479000	0.44913	CCA		0.423	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		10	74	0	0	0	1	0	10	74				
MAGEC2	51438	broad.mit.edu	37	X	141291113	141291113	+	Missense_Mutation	SNP	C	C	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chrX:141291113C>G	ENST00000247452.3	-	3	1008	c.661G>C	c.(661-663)Gat>Cat	p.D221H		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	221	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCCTCATCATCACTACCC	0.502										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(661-663)Gat>Cat		melanoma antigen family C, 2							110.0	99.0	103.0					X																	141291113		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291113C>G	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.661G>C	X.37:g.141291113C>G	ENSP00000354660:p.Asp221His	HNSCC(46;0.14)					p.D221H	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	1008	-	Acute lymphoblastic leukemia(192;6.56e-05)		221			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.661G>C	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	8.277	0.814773	0.16607	.	.	ENSG00000046774	ENST00000247452	T	0.05139	3.49	0.988	-1.83	0.07833	.	0.845094	0.10005	U	0.727978	T	0.11665	0.0284	M	0.62723	1.935	0.09310	N	1	P	0.44877	0.845	P	0.53988	0.739	T	0.17561	-1.0365	10	0.59425	D	0.04	.	1.6532	0.02776	0.3278:0.3991:0.0:0.2731	.	221	Q9UBF1	MAGC2_HUMAN	H	221	ENSP00000354660:D221H	ENSP00000354660:D221H	D	-	1	0	MAGEC2	141118779	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.380000	0.07427	-0.738000	0.04817	0.284000	0.19432	GAT		0.502	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		51	8	0	0	0	1	0	51	8				
DDX31	64794	broad.mit.edu	37	9	135487643	135487643	+	Splice_Site	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:135487643C>T	ENST00000372159.3	-	19	2292		c.e19-1		DDX31_ENST00000372153.1_Splice_Site|DDX31_ENST00000438527.3_Splice_Site	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GACTGCAGAGCTGAAAGAAAA	0.562																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.e19-1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							70.0	63.0	66.0					9																	135487643		2203	4300	6503	SO:0001630	splice_region_variant	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135487643C>T	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.2141-1G>A	9.37:g.135487643C>T						DDX31_ENST00000372153.1_Splice_Site|DDX31_ENST00000438527.3_Splice_Site		NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	19	2292	-								Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Splice_Site	SNP	ENST00000372159.3	37		CCDS6951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.940050|3.940050	0.73557|0.73557	.|.	.|.	ENSG00000125485|ENSG00000125485	ENST00000372159;ENST00000372153;ENST00000438527|ENST00000372155	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74989	.|0.3789	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72623	.|-0.4237	.|4	.|.	.|.	.|.	.|.	18.8463|18.8463	0.92208|0.92208	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|733	.|.	.|.	.|S	-|-	.|2	.|0	DDX31|DDX31	134477464|134477464	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.606000|0.606000	0.37113|0.37113	7.147000|7.147000	0.77382|0.77382	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	.|AGC		0.562	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620	Intron	18	16	0	0	0	1	0	18	16				
ADCK4	79934	broad.mit.edu	37	19	41216006	41216006	+	Missense_Mutation	SNP	C	C	T	rs199930495		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:41216006C>T	ENST00000324464.3	-	5	626	c.325G>A	c.(325-327)Gag>Aag	p.E109K	ADCK4_ENST00000450541.1_Missense_Mutation_p.E109K|ADCK4_ENST00000243583.6_Missense_Mutation_p.E109K|RNU6-195P_ENST00000411352.1_RNA	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	109						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TTAGCCATCTCGGCCAGTACT	0.597																																						ENST00000324464.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(325-327)Gag>Aag		aarF domain containing kinase 4			LYS/GLU,LYS/GLU	0,4406		0,0,2203	109.0	83.0	92.0		325,325	4.7	0.8	19		92	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ADCK4	NM_001142555.2,NM_024876.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	109/504,109/545	41216006	1,13005	2203	4300	6503	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41216006C>T	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.325G>A	19.37:g.41216006C>T	ENSP00000315118:p.Glu109Lys					ADCK4_ENST00000450541.1_Missense_Mutation_p.E109K|ADCK4_ENST00000243583.6_Missense_Mutation_p.E109K	p.E109K	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		5	626	-			109					Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.325G>A	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	c	17.69	3.450943	0.63290	0.0	1.16E-4	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.76839	-1.05;-0.99;-0.99	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.79123	2.44	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.81914	0.988;0.995	D	0.84445	0.0585	10	0.28530	T	0.3	-27.877	13.0534	0.58967	0.0:1.0:0.0:0.0	.	109;109	Q96D53;Q96D53-2	ADCK4_HUMAN;.	K	109	ENSP00000315118:E109K;ENSP00000412839:E109K;ENSP00000243583:E109K	ENSP00000243583:E109K	E	-	1	0	ADCK4	45907846	0.999000	0.42202	0.826000	0.32828	0.052000	0.14988	5.610000	0.67668	2.463000	0.83235	0.558000	0.71614	GAG		0.597	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		40	44	0	0	0	1	0	40	44				
POM121L9P	29774	broad.mit.edu	37	22	24656885	24656885	+	RNA	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr22:24656885G>A	ENST00000414583.2	+	0	1958					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		GAGGACGGAAGCAGAGGGTGC	0.622																																						ENST00000414583.2																			0																																																			0							g.chr22:24656885G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24656885G>A								NR_003714.1						0	1958	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.622	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		9	19	0	0	0	1	0	9	19				
HEATR5B	54497	broad.mit.edu	37	2	37230808	37230808	+	Missense_Mutation	SNP	T	T	C			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr2:37230808T>C	ENST00000233099.5	-	31	5022	c.4927A>G	c.(4927-4929)Agt>Ggt	p.S1643G	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S1643G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1643						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGCAAAACACTCAGCAACTCA	0.343																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(4927-4929)Agt>Ggt		HEAT repeat containing 5B							66.0	62.0	64.0					2																	37230808		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37230808T>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4927A>G	2.37:g.37230808T>C	ENSP00000233099:p.Ser1643Gly					HEATR5B_ENST00000354531.2_Missense_Mutation_p.S1643G	p.S1643G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			31	5022	-		all_hematologic(82;0.21)	1643					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.4927A>G	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290902	0.59976	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.47869	0.83;0.83	5.51	5.51	0.81932	Armadillo-type fold (1);	0.227157	0.52532	D	0.000065	T	0.37972	0.1023	N	0.19112	0.55	0.41493	D	0.988239	B	0.15930	0.015	B	0.25405	0.06	T	0.23119	-1.0197	10	0.56958	D	0.05	-6.0999	15.9209	0.79570	0.0:0.0:0.0:1.0	.	1643	Q9P2D3	HTR5B_HUMAN	G	1643	ENSP00000233099:S1643G;ENSP00000346531:S1643G	ENSP00000233099:S1643G	S	-	1	0	HEATR5B	37084312	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.267000	0.78462	2.210000	0.71456	0.533000	0.62120	AGT		0.343	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		14	29	0	0	0	1	0	14	29				
IGKV6-21	28906	broad.mit.edu	37	2	89459332	89459332	+	RNA	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr2:89459332C>T	ENST00000390256.2	-	0	308									immunoglobulin kappa variable 6-21 (non-functional)																		TCCACTGCCACTGAACCTCGA	0.498																																						ENST00000390256.2																			0																				104.0	116.0	112.0					2																	89459332		1892	4128	6020			0							g.chr2:89459332C>T	X63399		2p11.2	2012-02-10	2008-09-10		ENSG00000211611	ENSG00000211611		"""Immunoglobulins / IGK locus"""	5836	other	immunoglobulin gene			"""immunoglobulin kappa variable 6-21"""				Standard	NG_000834		Approved	IGKV621, A26			OTTHUMG00000151654		2.37:g.89459332C>T														0	308	-									RNA	SNP	ENST00000390256.2	37																																																																																						0.498	IGKV6-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323403.1	NG_000834		42	145	0	0	0	1	0	42	145				
ATP6V0A4	50617	broad.mit.edu	37	7	138394427	138394427	+	Missense_Mutation	SNP	C	C	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr7:138394427C>G	ENST00000310018.2	-	21	2653	c.2371G>C	c.(2371-2373)Gcc>Ccc	p.A791P	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A791P|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A791P	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	791					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGAAGGATGGCTACTGTCAGG	0.542																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2371-2373)Gcc>Ccc		ATPase, H+ transporting, lysosomal V0 subunit a4							174.0	171.0	172.0					7																	138394427		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138394427C>G	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2371G>C	7.37:g.138394427C>G	ENSP00000308122:p.Ala791Pro					ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A791P|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A791P	p.A791P	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			21	2653	-			791					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.2371G>C	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933599	0.92458	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.87179	-2.22;-2.22;-2.22	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95364	0.8495	M	0.92784	3.345	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	D	0.95768	0.8806	10	0.72032	D	0.01	-27.0032	19.8636	0.96797	0.0:1.0:0.0:0.0	.	791	Q9HBG4	VPP4_HUMAN	P	791	ENSP00000308122:A791P;ENSP00000376774:A791P;ENSP00000253856:A791P	ENSP00000308122:A791P	A	-	1	0	ATP6V0A4	138044967	0.998000	0.40836	0.964000	0.40570	0.958000	0.62258	3.831000	0.55776	2.694000	0.91930	0.655000	0.94253	GCC		0.542	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		97	115	0	0	0	1	0	97	115				
PCDHB6	56130	broad.mit.edu	37	5	140532009	140532009	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr5:140532009C>T	ENST00000231136.1	+	1	2171	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S588L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	724					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S724L(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCGCTACTCGGTGCCCGAG	0.652																																						ENST00000231136.1																			1	Substitution - Missense(1)	p.S724L(1)	skin(1)	cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2170-2172)tCg>tTg									93.0	105.0	101.0					5																	140532009		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140532009C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2171C>T	5.37:g.140532009C>T	ENSP00000231136:p.Ser724Leu					PCDHB6_ENST00000543635.1_Missense_Mutation_p.S588L	p.S724L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2171	+			724					B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.2171C>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063115	0.36373	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.53857	0.6;0.63	4.18	3.0	0.34707	.	.	.	.	.	T	0.46112	0.1376	L	0.52126	1.63	0.09310	N	1	B	0.16166	0.016	B	0.10450	0.005	T	0.37126	-0.9719	9	0.45353	T	0.12	.	10.5956	0.45336	0.0:0.8547:0.0:0.1453	.	724	Q9Y5E3	PCDB6_HUMAN	L	588;724	ENSP00000438466:S588L;ENSP00000231136:S724L	ENSP00000231136:S724L	S	+	2	0	PCDHB6	140512193	0.000000	0.05858	0.003000	0.11579	0.042000	0.13812	0.113000	0.15499	2.055000	0.61198	0.556000	0.70494	TCG		0.652	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		12	157	0	0	0	1	0	12	157				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	49	0	0	0	1	0	3	49				
OXTR	5021	broad.mit.edu	37	3	8809318	8809318	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr3:8809318C>T	ENST00000316793.3	-	3	1180	c.556G>A	c.(556-558)Gac>Aac	p.D186N	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	186					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	GCCCAGCAGTCGAAGACGCCG	0.662																																						ENST00000316793.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13						c.(556-558)Gac>Aac		oxytocin receptor	Carbetocin(DB01282)						49.0	52.0	51.0					3																	8809318		2203	4300	6503	SO:0001583	missense	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8809318C>T		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.556G>A	3.37:g.8809318C>T	ENSP00000324270:p.Asp186Asn					CAV3_ENST00000472766.1_Intron	p.D186N	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	3	1180	-			186					Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	c.556G>A	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	C	36	5.714913	0.96830	.	.	ENSG00000180914	ENST00000316793	T	0.36699	1.24	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67898	-0.5551	10	0.62326	D	0.03	-46.8891	17.4792	0.87668	0.0:1.0:0.0:0.0	.	186	P30559	OXYR_HUMAN	N	186	ENSP00000324270:D186N	ENSP00000324270:D186N	D	-	1	0	OXTR	8784318	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.688000	0.84153	2.466000	0.83321	0.561000	0.74099	GAC		0.662	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			32	31	0	0	0	1	0	32	31				
ARHGAP35	2909	broad.mit.edu	37	19	47424519	47424519	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:47424519C>T	ENST00000404338.3	+	1	2587	c.2587C>T	c.(2587-2589)Cgt>Tgt	p.R863C		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	863					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TTCAGCCAAACGTAAGGCCTC	0.438																																						ENST00000404338.3																			0											c.(2587-2589)Cgt>Tgt		Rho GTPase activating protein 35							161.0	156.0	157.0					19																	47424519		1907	4133	6040	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424519C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2587C>T	19.37:g.47424519C>T	ENSP00000385720:p.Arg863Cys						p.R863C	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2587	+			863					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2587C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379579	0.61845	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.48836	0.8	5.79	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72320	-0.4329	10	0.87932	D	0	-12.8124	15.0295	0.71696	0.1436:0.8564:0.0:0.0	.	863	Q9NRY4-2	.	C	863	ENSP00000385720:R863C	ENSP00000324820:R863C	R	+	1	0	ARHGAP35	52116359	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.779000	0.62375	1.413000	0.46997	0.655000	0.94253	CGT		0.438	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		23	36	0	0	0	1	0	23	36				
PTRF	284119	broad.mit.edu	37	17	40557062	40557062	+	Silent	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr17:40557062C>T	ENST00000357037.5	-	2	1235	c.816G>A	c.(814-816)aaG>aaA	p.K272K		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TGTTCATGCGCTTCTCCAGGG	0.617																																						ENST00000357037.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(814-816)aaG>aaA		polymerase I and transcript release factor							114.0	100.0	105.0					17																	40557062		2203	4300	6503	SO:0001819	synonymous_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557062C>T	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.816G>A	17.37:g.40557062C>T							p.K272K	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1235	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	272						Silent	SNP	ENST00000357037.5	37	c.816G>A	CCDS11425.1																																																																																				0.617	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		27	31	0	0	0	1	0	27	31				
TUBAL3	79861	broad.mit.edu	37	10	5436259	5436259	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr10:5436259C>T	ENST00000380419.3	-	4	599	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	TUBAL3_ENST00000479328.1_Missense_Mutation_p.V148M	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	188					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GGCTCTACCACAGCAGTGGAG	0.517																																						ENST00000380419.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						c.(562-564)Gtg>Atg		tubulin, alpha-like 3							102.0	94.0	97.0					10																	5436259		2203	4300	6503	SO:0001583	missense	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5436259C>T	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.562G>A	10.37:g.5436259C>T	ENSP00000369784:p.Val188Met					TUBAL3_ENST00000479328.1_Missense_Mutation_p.V148M	p.V188M	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN			4	599	-			188					B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	c.562G>A	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987552	0.35036	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.71222	-0.55;-0.55	4.2	1.28	0.21552	Tubulin/FtsZ, GTPase domain (4);	0.706739	0.12329	N	0.478573	T	0.82240	0.4994	M	0.83384	2.64	0.34779	D	0.734585	D;D	0.71674	0.998;0.992	D;D	0.69142	0.962;0.922	T	0.82784	-0.0286	10	0.72032	D	0.01	.	8.9322	0.35677	0.0:0.7421:0.0:0.2579	.	148;188	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	M	188;148	ENSP00000369784:V188M;ENSP00000418799:V148M	ENSP00000369784:V188M	V	-	1	0	TUBAL3	5426259	0.771000	0.28555	0.001000	0.08648	0.017000	0.09413	1.666000	0.37460	0.155000	0.19261	0.650000	0.86243	GTG		0.517	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		51	33	0	0	0	1	0	51	33				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			0							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	45	0	0	0	1	0	4	45				
DVL2	1856	broad.mit.edu	37	17	7129436	7129436	+	Silent	SNP	C	C	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr17:7129436C>G	ENST00000005340.5	-	15	2241	c.1959G>C	c.(1957-1959)ggG>ggC	p.G653G	DVL2_ENST00000575458.1_Silent_p.G647G|MIR324_ENST00000362183.1_RNA	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	653					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TAGGGGCACCCCCAGTTGAGC	0.672																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(1957-1959)ggG>ggC		dishevelled segment polarity protein 2							34.0	37.0	36.0					17																	7129436		2203	4300	6503	SO:0001819	synonymous_variant	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7129436C>G	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1959G>C	17.37:g.7129436C>G						DVL2_ENST00000575458.1_Silent_p.G647G	p.G653G	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			15	2241	-			653					D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	c.1959G>C	CCDS11091.1																																																																																				0.672	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		38	5	0	0	0	1	0	38	5				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	24	0	0	0	1	0	3	24				
CTBP2	1488	broad.mit.edu	37	10	126682516	126682516	+	Silent	SNP	G	G	A	rs185815738	byFrequency	TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr10:126682516G>A	ENST00000337195.5	-	8	1218	c.819C>T	c.(817-819)ggC>ggT	p.G273G	CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000309035.6_Silent_p.G813G|CTBP2_ENST00000531469.1_Silent_p.G273G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2437-2439)ggC>ggT		C-terminal binding protein 2							82.0	86.0	85.0					10																	126682516		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682516G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.819C>T	10.37:g.126682516G>A						CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G	p.G813G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2569	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	273					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2439C>T	CCDS7643.1																																																																																				0.582	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		4	220	0	0	0	1	0	4	220				
TBC1D9B	23061	broad.mit.edu	37	5	179301924	179301924	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr5:179301924C>T	ENST00000356834.3	-	12	2201	c.2164G>A	c.(2164-2166)Gag>Aag	p.E722K	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E722K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	722						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCATGGCCTCGCCCTCGTCG	0.647																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(2164-2166)Gag>Aag		TBC1 domain family, member 9B (with GRAM domain)							48.0	47.0	47.0					5																	179301924		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179301924C>T	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2164G>A	5.37:g.179301924C>T	ENSP00000349291:p.Glu722Lys					TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E722K	p.E722K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	2201	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	722					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.2164G>A	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	36	5.827925	0.96996	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.28454	1.61;1.61	5.29	5.29	0.74685	Rab-GAP/TBC domain (1);	0.129490	0.50627	D	0.000110	T	0.61400	0.2344	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.992	T	0.66344	-0.5947	10	0.62326	D	0.03	-34.6651	18.9379	0.92594	0.0:1.0:0.0:0.0	.	722;722;722	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	K	722	ENSP00000349291:E722K;ENSP00000347375:E722K	ENSP00000347375:E722K	E	-	1	0	TBC1D9B	179234530	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.743000	0.85020	2.469000	0.83416	0.491000	0.48974	GAG		0.647	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		48	4	0	0	0	1	0	48	4				
TOPORS	10210	broad.mit.edu	37	9	32550878	32550878	+	Missense_Mutation	SNP	C	C	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:32550878C>A	ENST00000360538.2	-	2	208	c.92G>T	c.(91-93)aGt>aTt	p.S31I	TOPORS-AS1_ENST00000540066.1_RNA|TOPORS-AS1_ENST00000453396.1_RNA|TOPORS-AS1_ENST00000425533.1_RNA|TOPORS-AS1_ENST00000450093.1_RNA|TOPORS_ENST00000379858.1_Intron|TOPORS-AS1_ENST00000458036.1_RNA	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	31	E3 ubiquitin-protein ligase activity.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TACCCGGCGACTTCTCCGCCT	0.726																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(91-93)aGt>aTt		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							20.0	25.0	23.0					9																	32550878		2201	4289	6490	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32550878C>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.92G>T	9.37:g.32550878C>A	ENSP00000353735:p.Ser31Ile					TOPORS_ENST00000379858.1_Intron	p.S31I	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	2	208	-			31			E3 ubiquitin-protein ligase activity.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.92G>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043272	0.75732	.	.	ENSG00000197579	ENST00000360538	T	0.23552	1.9	4.15	4.15	0.48705	.	0.114600	0.40144	N	0.001165	T	0.28699	0.0711	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.22243	-1.0222	10	0.87932	D	0	-14.5559	12.2289	0.54476	0.0:1.0:0.0:0.0	.	31	Q9NS56	TOPRS_HUMAN	I	31	ENSP00000353735:S31I	ENSP00000353735:S31I	S	-	2	0	TOPORS	32540878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.827000	0.48112	2.600000	0.87896	0.655000	0.94253	AGT		0.726	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		9	13	1	0	0.0692343	1	0.0692343	9	13				
ATP8B2	57198	broad.mit.edu	37	1	154315408	154315408	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:154315408A>G	ENST00000368489.3	+	15	1523	c.1523A>G	c.(1522-1524)cAt>cGt	p.H508R		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	494					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCCTGTGTCATACTGTCATG	0.572																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1522-1524)cAt>cGt		ATPase, aminophospholipid transporter, class I, type 8B, member 2							34.0	37.0	36.0					1																	154315408		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154315408A>G	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1523A>G	1.37:g.154315408A>G	ENSP00000357475:p.His508Arg						p.H508R	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		15	1523	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		494					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.1523A>G	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534926	0.85812	.	.	ENSG00000143515	ENST00000368489	D	0.82167	-1.58	5.39	4.23	0.50019	.	0.051412	0.85682	N	0.000000	D	0.94079	0.8102	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95032	0.8170	10	0.87932	D	0	.	10.926	0.47191	0.925:0.0:0.075:0.0	.	508	P98198-3	.	R	508	ENSP00000357475:H508R	ENSP00000357475:H508R	H	+	2	0	ATP8B2	152582032	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.283000	0.78640	2.266000	0.75297	0.533000	0.62120	CAT		0.572	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		46	56	0	0	0	1	0	46	56				
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G	rs199631015		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr13:52864001A>G	ENST00000451298.1	-	0	168																											GAAAAAATAAAGCAATAGCTA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864001A>G																													13.37:g.52864001A>G						RP11-64P12.8_ENST00000606031.1_RNA								0	168	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			6	22	0	0	0	1	0	6	22				
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(82-90)ccc>cc		podocalyxin-like																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del					PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del	p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	341_346	-	Melanoma(18;0.162)		28					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		3	5						3	5	---	---	---	---
RP11-478C19.2	0	broad.mit.edu	37	12	110868215	110868216	+	RNA	DEL	GT	GT	-	rs113592903		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr12:110868215_110868216delGT	ENST00000550231.1	-	0	97																											CAgtgtgtgcgtgtgtgtgtgt	0.49																																						ENST00000550231.1																			0																																																			0							g.chr12:110868215_110868216delGT																													12.37:g.110868225_110868226delGT														0	97	-									RNA	DEL	ENST00000550231.1	37																																																																																						0.490	RP11-478C19.2-001	KNOWN	basic|readthrough_transcript	retained_intron	processed_transcript	OTTHUMT00000404601.1			3	6						3	6	---	---	---	---
HCFC1R1	54985	broad.mit.edu	37	16	3073909	3073909	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr16:3073909delG	ENST00000248089.3	-	1	338	c.34delC	c.(34-36)cagfs	p.Q12fs	HCFC1R1_ENST00000572355.1_Intron|THOC6_ENST00000575576.1_5'Flank|HCFC1R1_ENST00000574980.1_Frame_Shift_Del_p.Q12fs|THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000253952.9_5'Flank|THOC6_ENST00000326266.8_5'Flank|HCFC1R1_ENST00000574151.1_Frame_Shift_Del_p.Q12fs|HCFC1R1_ENST00000396916.1_Frame_Shift_Del_p.Q12fs|HCFC1R1_ENST00000354679.3_Frame_Shift_Del_p.Q12fs	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	12						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						GCCCCTCCCTGGGGGCCTCGC	0.711																																						ENST00000248089.3																			0				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						c.(34-36)agfs		host cell factor C1 regulator 1 (XPO1 dependent)							8.0	10.0	9.0					16																	3073909		2122	4213	6335	SO:0001589	frameshift_variant	54985					cytoplasm|nucleus		g.chr16:3073909delG	AK000575	CCDS10490.1, CCDS32375.1, CCDS73815.1	16p13.3	2008-02-05	2005-12-01			ENSG00000103145			21198	protein-coding gene	gene with protein product			"""host cell factor C1 regulator 1 (XPO1 dependant)"""			12235138	Standard	NM_001002018		Approved	HPIP, FLJ20568	uc002csy.1	Q9NWW0		ENST00000248089.3:c.34delC	16.37:g.3073909delG	ENSP00000248089:p.Gln12fs					HCFC1R1_ENST00000354679.3_Frame_Shift_Del_p.Q12fs|HCFC1R1_ENST00000396916.1_Frame_Shift_Del_p.Q12fs|HCFC1R1_ENST00000572355.1_Intron|HCFC1R1_ENST00000574980.1_Frame_Shift_Del_p.Q12fs|HCFC1R1_ENST00000574151.1_Frame_Shift_Del_p.Q12fs	p.Q12fs	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN			1	338	-			12					D3DUA7|Q68EN7	Frame_Shift_Del	DEL	ENST00000248089.3	37	c.34delC	CCDS10490.1																																																																																				0.711	HCFC1R1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436969.1	NM_017885		2	4						2	4	---	---	---	---
PALM	5064	broad.mit.edu	37	19	740396	740396	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:740396delG	ENST00000338448.5	+	8	593	c.547delG	c.(547-549)gggfs	p.G183fs	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Intron	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	183					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CAAGGTGACAGGGGAGACCAG	0.652																																						ENST00000338448.5																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(547-549)ggfs		paralemmin							55.0	33.0	40.0					19																	740396		2175	4259	6434	SO:0001589	frameshift_variant	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:740396delG	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.547delG	19.37:g.740396delG	ENSP00000341911:p.Gly183fs					PALM_ENST00000264560.7_Intron|PALM_ENST00000606643.1_Intron	p.G183fs	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	8	593	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	183					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Frame_Shift_Del	DEL	ENST00000338448.5	37	c.547delG	CCDS32857.1																																																																																				0.652	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		2	4						2	4	---	---	---	---
CTC-559E9.6	0	broad.mit.edu	37	19	19944580	19944580	+	RNA	DEL	T	T	-	rs372322378		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:19944580delT	ENST00000591884.1	+	0	520																											ATGTTTAATCttttttttttt	0.378																																						ENST00000591884.1																			0																																																			0							g.chr19:19944580delT																													19.37:g.19944580delT														0	520	+									RNA	DEL	ENST00000591884.1	37																																																																																						0.378	CTC-559E9.6-003	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000460786.1			2	4						2	4	---	---	---	---
