#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
LYPLA2	11313	broad.mit.edu	37	1	24124221	24124221	+	IGR	SNP	G	G	A	rs370228054		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:24124221G>A	ENST00000374514.3	+	0	1810				GALE_ENST00000470383.1_5'Flank|GALE_ENST00000374497.3_Silent_p.I164I	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TCATTTCCTCGATGAAGAACT	0.612																																						ENST00000374497.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(490-492)atC>atT		UDP-galactose-4-epimerase		G	,,	0,4406		0,0,2203	78.0	75.0	76.0		492,492,492	-6.9	0.7	1		76	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	GALE	NM_000403.3,NM_001008216.1,NM_001127621.1	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	164/349,164/349,164/349	24124221	2,13004	2203	4300	6503	SO:0001628	intergenic_variant	2582				galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity	g.chr1:24124221G>A	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24124221G>A							p.I164I	NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	6	583	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	164					Q7Z4Z2	Silent	SNP	ENST00000374514.3	37	c.492C>T	CCDS241.1																																																																																				0.612	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			4	73	0	0	0	1	0	4	73				
WSCD2	9671	broad.mit.edu	37	12	108604003	108604003	+	Silent	SNP	C	C	T	rs79029951	byFrequency	TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr12:108604003C>T	ENST00000332082.4	+	5	1421	c.603C>T	c.(601-603)ggC>ggT	p.G201G	WSCD2_ENST00000261400.3_Silent_p.G201G|WSCD2_ENST00000547525.1_Silent_p.G201G|WSCD2_ENST00000549903.1_Silent_p.G201G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	201	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGTGCAAGGGCGAGCGAGGCA	0.682													C|||	4	0.000798722	0.003	0.0	5008	,	,		16478	0.0		0.0	False		,,,				2504	0.0					ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(601-603)ggC>ggT		WSC domain containing 2		C		8,4394		0,8,2193	24.0	31.0	29.0		603	0.5	1.0	12	dbSNP_131	29	0,8586		0,0,4293	no	coding-synonymous	WSCD2	NM_014653.2		0,8,6486	TT,TC,CC		0.0,0.1817,0.0616		201/566	108604003	8,12980	2201	4293	6494	SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108604003C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.603C>T	12.37:g.108604003C>T						WSCD2_ENST00000261400.3_Silent_p.G201G|WSCD2_ENST00000549903.1_Silent_p.G201G|WSCD2_ENST00000547525.1_Silent_p.G201G	p.G201G			Q2TBF2	WSCD2_HUMAN			5	1421	+			201			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.603C>T	CCDS41828.1																																																																																				0.682	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		3	29	0	0	0	1	0	3	29				
AKR7A2	8574	broad.mit.edu	37	1	19632608	19632608	+	Silent	SNP	C	C	T	rs199676246		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:19632608C>T	ENST00000235835.3	-	6	843	c.822G>A	c.(820-822)gcG>gcA	p.A274A	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	274					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCACCAACGCAATGGCCT	0.617																																						ENST00000235835.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(820-822)gcG>gcA		aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)							86.0	79.0	82.0					1																	19632608		2203	4300	6503	SO:0001819	synonymous_variant	8574				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	g.chr1:19632608C>T	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.822G>A	1.37:g.19632608C>T							p.A274A	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	843	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	274					O75749|Q5TG63	Silent	SNP	ENST00000235835.3	37	c.822G>A	CCDS194.1																																																																																				0.617	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		9	105	0	0	0	1	0	9	105				
PAPPA	5069	broad.mit.edu	37	9	118950481	118950481	+	Silent	SNP	C	C	T	rs535986686		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:118950481C>T	ENST00000328252.3	+	2	1833	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	PAPPA_ENST00000534838.1_5'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	488	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTTTGACCCCGACTCTCCAC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		19289	0.001		0.0	False		,,,				2504	0.0					ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(1462-1464)ccC>ccT		pregnancy-associated plasma protein A, pappalysin 1							64.0	50.0	55.0					9																	118950481		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118950481C>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1464C>T	9.37:g.118950481C>T						PAPPA_ENST00000534838.1_5'UTR	p.P488P	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			2	1833	+			488			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.1464C>T	CCDS6813.1																																																																																				0.483	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		14	19	0	0	0	1	0	14	19				
TACC1	6867	broad.mit.edu	37	8	38699927	38699927	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr8:38699927T>G	ENST00000317827.4	+	10	2462	c.2083T>G	c.(2083-2085)Tat>Gat	p.Y695D	TACC1_ENST00000443286.2_Missense_Mutation_p.Y682D|TACC1_ENST00000520611.1_Missense_Mutation_p.Y132D|TACC1_ENST00000330691.6_Missense_Mutation_p.Y269D|TACC1_ENST00000379931.3_Missense_Mutation_p.Y707D|TACC1_ENST00000276520.8_Missense_Mutation_p.Y285D|TACC1_ENST00000519416.1_Missense_Mutation_p.Y499D|TACC1_ENST00000518415.1_Missense_Mutation_p.Y621D|TACC1_ENST00000348567.4_Missense_Mutation_p.Y257D|RP11-723D22.3_ENST00000459965.2_RNA|TACC1_ENST00000520973.1_Missense_Mutation_p.Y471D|TACC1_ENST00000520615.1_Missense_Mutation_p.Y500D	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	695					cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CTTCAGGAGATATGAGAACCT	0.473																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(2119-2121)Tat>Gat		transforming, acidic coiled-coil containing protein 1							118.0	121.0	120.0					8																	38699927		2203	4300	6503	SO:0001583	missense	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38699927T>G	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.2083T>G	8.37:g.38699927T>G	ENSP00000321703:p.Tyr695Asp					TACC1_ENST00000348567.4_Missense_Mutation_p.Y257D|TACC1_ENST00000330691.6_Missense_Mutation_p.Y269D|TACC1_ENST00000518415.1_Missense_Mutation_p.Y621D|TACC1_ENST00000520615.1_Missense_Mutation_p.Y500D|TACC1_ENST00000317827.4_Missense_Mutation_p.Y695D|TACC1_ENST00000520973.1_Missense_Mutation_p.Y471D|TACC1_ENST00000520611.1_Missense_Mutation_p.Y132D|TACC1_ENST00000519416.1_Missense_Mutation_p.Y499D|TACC1_ENST00000443286.2_Missense_Mutation_p.Y682D|TACC1_ENST00000276520.8_Missense_Mutation_p.Y285D	p.Y707D			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		11	2498	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	695			Interaction with CH-TOG.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.2119T>G	CCDS6109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.90|13.90	2.374127|2.374127	0.42105|0.42105	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000521866;ENST00000518809|ENST00000519416;ENST00000520615;ENST00000443286;ENST00000518415;ENST00000330691;ENST00000348567;ENST00000317827;ENST00000379931;ENST00000276520;ENST00000520973;ENST00000520611	.|T;T;T;T;T;T;T;T;T;T;T	.|0.49432	.|0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.24|5.24	4.07|4.07	0.47477|0.47477	.|.	.|0.076409	.|0.53938	.|D	.|0.000043	T|T	0.68174|0.68174	0.2972|0.2972	M|M	0.81112|0.81112	2.525|2.525	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D;D;D;D	.|0.89917	.|0.999;1.0;0.987;1.0;0.999;1.0;0.999;1.0	.|D;D;P;D;D;D;D;D	.|0.97110	.|0.999;1.0;0.889;1.0;0.999;0.992;0.991;1.0	T|T	0.71087|0.71087	-0.4694|-0.4694	5|10	.|0.87932	.|D	.|0	-8.6315|-8.6315	11.5181|11.5181	0.50534|0.50534	0.1343:0.0:0.0:0.8657|0.1343:0.0:0.0:0.8657	.|.	.|471;471;682;707;695;285;499;621	.|E7EVI4;B4DH49;B4E302;O75410-2;O75410;O75410-6;E7ET87;O75410-7	.|.;.;.;.;TACC1_HUMAN;.;.;.	E|D	451;343|499;500;682;621;269;257;695;707;285;471;132	.|ENSP00000428687:Y499D;ENSP00000428450:Y500D;ENSP00000393647:Y682D;ENSP00000428706:Y621D;ENSP00000332794:Y269D;ENSP00000327818:Y257D;ENSP00000321703:Y695D;ENSP00000369263:Y707D;ENSP00000276520:Y285D;ENSP00000430959:Y471D;ENSP00000429418:Y132D	.|ENSP00000276520:Y285D	D|Y	+|+	3|1	2|0	TACC1|TACC1	38819084|38819084	1.000000|1.000000	0.71417|0.71417	0.406000|0.406000	0.26421|0.26421	0.003000|0.003000	0.03518|0.03518	8.040000|8.040000	0.89188|0.89188	0.813000|0.813000	0.34350|0.34350	-0.327000|-0.327000	0.08410|0.08410	GAT|TAT		0.473	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		37	50	0	0	0	1	0	37	50				
COL6A1	1291	broad.mit.edu	37	21	47410706	47410706	+	Missense_Mutation	SNP	G	G	A	rs121912935|rs398123630		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr21:47410706G>A	ENST00000361866.3	+	14	1136	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	341	Triple-helical region.		G -> D (in BM). {ECO:0000269|PubMed:11865138}.|G -> V (in BM). {ECO:0000269|PubMed:15689448, ECO:0000269|PubMed:15955946}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GGGTACCCAGGCCTGCCAGGC	0.542																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	GRCh37	CM020403|CM051895	COL6A1	M	rs121912935	c.(1021-1023)gGc>gAc		collagen, type VI, alpha 1	Palifermin(DB00039)						68.0	73.0	71.0					21																	47410706		2203	4300	6503	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47410706G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1022G>A	21.37:g.47410706G>A	ENSP00000355180:p.Gly341Asp						p.G341D	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	14	1136	+	all_hematologic(128;0.24)		341		G -> D (in BM).|G -> V (in BM).	Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.1022G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411644	0.62399	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.99619	-6.28	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	H	0.95365	3.66	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97095	0.9793	9	0.72032	D	0.01	-31.7912	16.8731	0.86044	0.0:0.0:1.0:0.0	.	341	P12109	CO6A1_HUMAN	D	341	ENSP00000355180:G341D	ENSP00000355180:G341D	G	+	2	0	COL6A1	46235134	0.999000	0.42202	0.991000	0.47740	0.250000	0.25880	4.247000	0.58750	2.222000	0.72286	0.478000	0.44815	GGC		0.542	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		42	57	0	0	0	1	0	42	57				
ECE2	9718	broad.mit.edu	37	3	183995186	183995186	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:183995186G>A	ENST00000402825.3	+	4	764	c.764G>A	c.(763-765)gGg>gAg	p.G255E	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.G137E|ECE2_ENST00000359140.4_Missense_Mutation_p.G108E|ECE2_ENST00000357474.5_Missense_Mutation_p.G183E	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	255	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCCCGATGGGCGTTCTCGC	0.602																																						ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(763-765)gGg>gAg		endothelin converting enzyme 2							52.0	52.0	52.0					3																	183995186		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183995186G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.764G>A	3.37:g.183995186G>A	ENSP00000384223:p.Gly255Glu					ECE2_ENST00000404464.3_Missense_Mutation_p.G137E|ECE2_ENST00000359140.4_Missense_Mutation_p.G108E|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.G183E	p.G255E	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		4	764	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		255			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.764G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	31	5.081090	0.94050	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75	5.97	5.97	0.96955	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.84042	0.5385	L	0.58101	1.795	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;1.0;0.67;1.0;1.0;1.0	D;D;B;D;D;D	0.97110	1.0;1.0;0.1;1.0;1.0;1.0	T	0.79438	-0.1803	10	0.25751	T	0.34	-29.7669	18.9918	0.92796	0.0:0.0:1.0:0.0	.	108;183;137;183;108;255	B4DKF3;B7Z1P1;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	E	255;108;137;183;129	ENSP00000384223:G255E;ENSP00000352052:G108E;ENSP00000385846:G137E;ENSP00000350066:G183E;ENSP00000398444:G129E	ENSP00000350066:G183E	G	+	2	0	ECE2	185477880	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	9.827000	0.99397	2.837000	0.97791	0.655000	0.94253	GGG		0.602	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		27	54	0	0	0	1	0	27	54				
SP3	6670	broad.mit.edu	37	2	174777796	174777796	+	Splice_Site	SNP	A	A	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:174777796A>G	ENST00000310015.6	-	6	2560		c.e6+1		SP3_ENST00000418194.2_Splice_Site|SP3_ENST00000455789.2_Splice_Site	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor						B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			AGTATTAGTAACCTGTATGTG	0.353																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.e6+1		Sp3 transcription factor							80.0	75.0	77.0					2																	174777796		2203	4300	6503	SO:0001630	splice_region_variant	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174777796A>G	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2029+1T>C	2.37:g.174777796A>G						SP3_ENST00000455789.2_Splice_Site|SP3_ENST00000418194.2_Splice_Site		NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		6	2560	-								A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Splice_Site	SNP	ENST00000310015.6	37		CCDS2254.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751114	0.69533	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194;ENST00000416195	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.979	0.80091	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SP3	174486042	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.060000	0.93907	2.182000	0.69389	0.460000	0.39030	.		0.353	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111	Intron	13	26	0	0	0	1	0	13	26				
RABEPK	10244	broad.mit.edu	37	9	127975736	127975736	+	Missense_Mutation	SNP	G	G	A	rs147509125		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:127975736G>A	ENST00000373538.3	+	4	609	c.299G>A	c.(298-300)cGt>cAt	p.R100H	RABEPK_ENST00000394124.4_Missense_Mutation_p.R100H|RABEPK_ENST00000373544.1_Missense_Mutation_p.R100H|RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000394125.4_Missense_Mutation_p.R100H	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	100					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						ACACCTGACCGTATCTGGGTA	0.448																																						ENST00000373544.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(298-300)cGt>cAt		Rab9 effector protein with kelch motifs		G	HIS/ARG,,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	131.0	119.0	123.0		299,,299	1.5	0.2	9	dbSNP_134	123	0,8600		0,0,4300	no	missense,intron,missense	RABEPK	NM_001174152.1,NM_001174153.1,NM_005833.3	29,,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,,benign	100/373,,100/373	127975736	2,13004	2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127975736G>A	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.299G>A	9.37:g.127975736G>A	ENSP00000362639:p.Arg100His					RABEPK_ENST00000394125.4_Missense_Mutation_p.R100H|RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000373538.3_Missense_Mutation_p.R100H|RABEPK_ENST00000394124.4_Missense_Mutation_p.R100H	p.R100H			Q7Z6M1	RABEK_HUMAN			5	465	+			100					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.299G>A	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	G	4.987	0.183381	0.09495	4.54E-4	0.0	ENSG00000136933	ENST00000394125;ENST00000373544;ENST00000394124;ENST00000373538;ENST00000416065	T;T;T;T;T	0.68181	0.84;-0.31;-0.31;0.84;0.84	5.47	1.49	0.22878	Galactose oxidase, beta-propeller (1);	0.429767	0.29403	N	0.012242	T	0.54532	0.1864	L	0.52206	1.635	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.43798	-0.9369	10	0.40728	T	0.16	-0.2788	6.7011	0.23225	0.2233:0.254:0.5227:0.0	.	100;100	Q7Z6M1;Q5T1S4	RABEK_HUMAN;.	H	100;100;100;100;183	ENSP00000377683:R100H;ENSP00000362645:R100H;ENSP00000377682:R100H;ENSP00000362639:R100H;ENSP00000402234:R183H	ENSP00000362639:R100H	R	+	2	0	RABEPK	127015557	1.000000	0.71417	0.195000	0.23364	0.047000	0.14425	1.514000	0.35834	-0.185000	0.10550	-2.511000	0.00188	CGT		0.448	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		4	104	0	0	0	1	0	4	104				
MECOM	2122	broad.mit.edu	37	3	168819875	168819875	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:168819875C>T	ENST00000464456.1	-	9	3353	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q	MECOM_ENST00000468789.1_Missense_Mutation_p.R727Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R728Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R718Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R727Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R906Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R728Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R792Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTTCCCTTCCGCAGAAGGTT	0.502																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2152-2154)cGg>cAg		MDS1 and EVI1 complex locus							68.0	65.0	66.0					3																	168819875		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168819875C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2153G>A	3.37:g.168819875C>T	ENSP00000419770:p.Arg718Gln					MECOM_ENST00000392736.3_Missense_Mutation_p.R727Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R906Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R728Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R727Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R792Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R718Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R728Q	p.R718Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			9	3353	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2153G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028087	0.93518	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07021	3.26;3.23;3.26;3.36;3.25;3.23;3.25;3.36	5.45	5.45	0.79879	.	0.095984	0.43747	D	0.000527	T	0.18676	0.0448	L	0.61218	1.895	0.80722	D	1	P;D;B;B;B	0.56521	0.647;0.976;0.367;0.178;0.258	B;P;B;B;B	0.48704	0.124;0.587;0.091;0.027;0.04	T	0.00194	-1.1933	10	0.62326	D	0.03	-9.2499	19.688	0.95987	0.0:1.0:0.0:0.0	.	915;719;906;792;727	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	Q	792;727;718;728;906;727;718;728	ENSP00000264674:R792Q;ENSP00000376493:R727Q;ENSP00000419770:R718Q;ENSP00000420048:R728Q;ENSP00000417899:R906Q;ENSP00000419995:R727Q;ENSP00000420466:R718Q;ENSP00000394302:R728Q	ENSP00000264674:R792Q	R	-	2	0	MECOM	170302569	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.434000	0.80377	2.730000	0.93505	0.655000	0.94253	CGG		0.502	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		27	49	0	0	0	1	0	27	49				
ZBTB44	29068	broad.mit.edu	37	11	130130970	130130970	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:130130970C>G	ENST00000357899.4	-	2	1071	c.799G>C	c.(799-801)Gct>Cct	p.A267P	ZBTB44_ENST00000525842.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000397753.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000530205.1_Missense_Mutation_p.A267P			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ACATAATCAGCCATTCTTCTA	0.433																																						ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(799-801)Gct>Cct		zinc finger and BTB domain containing 44							130.0	125.0	126.0					11																	130130970		1913	4122	6035	SO:0001583	missense	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130130970C>G	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.799G>C	11.37:g.130130970C>G	ENSP00000350574:p.Ala267Pro					ZBTB44_ENST00000530205.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000397753.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000357899.4_Missense_Mutation_p.A267P	p.A267P	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	2	1166	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	267					Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37	c.799G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	10.73|10.73|10.73	1.432532|1.432532|1.432532	0.25813|0.25813|0.25813	.|.|.	.|.|.	ENSG00000196323|ENSG00000196323|ENSG00000196323	ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205;ENST00000338191|ENST00000527478|ENST00000529982	T;T;T;T;T|.|.	0.13657|.|.	2.57;2.95;2.67;2.95;2.57|.|.	5.37|5.37|5.37	-1.93|-1.93|-1.93	0.07594|0.07594|0.07594	.|.|.	0.680438|.|.	0.15737|.|.	N|.|.	0.247102|.|.	T|T|T	0.26159|0.26159|0.26159	0.0638|0.0638|0.0638	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.29233|0.29233|0.29233	N|N|N	0.873174|0.873174|0.873174	B;B;B;B|.|.	0.28880|.|.	0.118;0.036;0.145;0.226|.|.	B;B;B;B|.|.	0.31686|.|.	0.069;0.043;0.043;0.134|.|.	T|T|T	0.33954|0.33954|0.33954	-0.9848|-0.9848|-0.9848	10|5|5	0.46703|.|.	T|.|.	0.11|.|.	.|.|.	11.78|11.78|11.78	0.52008|0.52008|0.52008	0.0:0.4912:0.0:0.5088|0.0:0.4912:0.0:0.5088|0.0:0.4912:0.0:0.5088	.|.|.	267;267;267;267|.|.	Q8NCP5-4;Q8NCP5-3;Q8NCP5;Q8NCP5-2|.|.	.;.;ZBT44_HUMAN;.|.|.	P|A|C	267;267;267;267;267;179|263|120	ENSP00000433457:A267P;ENSP00000380861:A267P;ENSP00000408079:A267P;ENSP00000350574:A267P;ENSP00000434177:A267P|.|.	ENSP00000341618:A179P|.|.	A|G|W	-|-|-	1|2|3	0|0|0	ZBTB44|ZBTB44|ZBTB44	129636180|129636180|129636180	0.296000|0.296000|0.296000	0.24398|0.24398|0.24398	0.967000|0.967000|0.967000	0.41034|0.41034|0.41034	0.739000|0.739000|0.739000	0.42172|0.42172|0.42172	-0.360000|-0.360000|-0.360000	0.07622|0.07622|0.07622	-0.247000|-0.247000|-0.247000	0.09597|0.09597|0.09597	-1.008000|-1.008000|-1.008000	0.02478|0.02478|0.02478	GCT|GGC|TGG		0.433	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		7	143	0	0	0	1	0	7	143				
TRDN	10345	broad.mit.edu	37	6	123600201	123600201	+	Splice_Site	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr6:123600201G>A	ENST00000398178.3	-	25	1558	c.1537C>T	c.(1537-1539)Caa>Taa	p.Q513*	TRDN_ENST00000334268.4_Splice_Site_p.Q513*	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	513					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TATAACATACGTGGAGGTTTA	0.269																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.e25+1		triadin							194.0	178.0	183.0					6																	123600201		1818	4076	5894	SO:0001630	splice_region_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123600201G>A	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1537+1C>T	6.37:g.123600201G>A						TRDN_ENST00000398178.3_Splice_Site_p.Q513_splice	p.Q513_splice			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	25	1854	-			513					A5D6W5|F5H2W7|Q6NSB8	Splice_Site	SNP	ENST00000398178.3	37	c.1537_splice	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	G	37	6.044985	0.97231	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	.	.	.	4.35	4.35	0.52113	.	0.520454	0.16040	N	0.232441	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.3369	12.6867	0.56952	0.0:0.0:1.0:0.0	.	.	.	.	X	513;515;513	.	.	Q	-	1	0	TRDN	123641900	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.095000	0.57728	2.723000	0.93209	0.655000	0.94253	CAA		0.269	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Nonsense_Mutation	9	20	0	0	0	1	0	9	20				
ECE2	9718	broad.mit.edu	37	3	183994314	183994314	+	Intron	SNP	G	G	A	rs376213717		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:183994314G>A	ENST00000402825.3	+	3	480				EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.E29K|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29K	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACGCACCCGAGACCCCCGT	0.667																																						ENST00000404464.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(85-87)Gag>Aag		endothelin converting enzyme 2		G	,LYS/GLU,LYS/GLU,	1,3883		0,1,1941	17.0	21.0	20.0		,85,85,	3.8	0.9	3		20	0,8206		0,0,4103	no	intron,missense,missense,intron	ECE2	NM_001037324.2,NM_001100120.1,NM_001100121.1,NM_014693.3	,56,56,	0,1,6044	AA,AG,GG		0.0,0.0257,0.0083	,,,	,29/812,29/766,	183994314	1,12089	1942	4103	6045	SO:0001627	intron_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183994314G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.481-366G>A	3.37:g.183994314G>A						ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29K	p.E29K	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	223	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		0			Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.85G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995391	0.74703	2.57E-4	0.0	ENSG00000145194	ENST00000404464;ENST00000357474	D;D	0.86562	-1.65;-2.14	3.76	3.76	0.43208	.	0.243031	0.36482	N	0.002563	D	0.82300	0.5007	N	0.19112	0.55	0.80722	D	1	D;P;P	0.61697	0.99;0.453;0.884	P;B;B	0.48488	0.579;0.072;0.245	D	0.85541	0.1215	10	0.72032	D	0.01	.	14.2998	0.66339	0.0:0.0:1.0:0.0	.	29;29;29	B7Z1P1;O60344-2;O60344-5	.;.;.	K	29	ENSP00000385846:E29K;ENSP00000350066:E29K	ENSP00000350066:E29K	E	+	1	0	ECE2	185477008	1.000000	0.71417	0.924000	0.36721	0.756000	0.42949	7.259000	0.78381	1.934000	0.56057	0.462000	0.41574	GAG		0.667	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		16	33	0	0	0	1	0	16	33				
ABHD13	84945	broad.mit.edu	37	13	108881587	108881587	+	Silent	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr13:108881587G>A	ENST00000375898.3	+	2	322	c.21G>A	c.(19-21)ctG>ctA	p.L7L		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	7						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCTGGATGCTGTGGAACTTTG	0.383																																					Pancreas(22;506 789 38166 45896 51596)	ENST00000375898.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(19-21)ctG>ctA		abhydrolase domain containing 13							120.0	117.0	118.0					13																	108881587		2203	4298	6501	SO:0001819	synonymous_variant	84945					integral to membrane	hydrolase activity	g.chr13:108881587G>A	AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"""Abhydrolase domain containing"""	20293	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 6"""	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.21G>A	13.37:g.108881587G>A							p.L7L	NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN			2	322	+	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		7					B3KWE7|Q8NBW1|Q96JX9	Silent	SNP	ENST00000375898.3	37	c.21G>A	CCDS32007.1																																																																																				0.383	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	NM_032859		7	46	0	0	0	1	0	7	46				
RFFL	117584	broad.mit.edu	37	17	33341759	33341759	+	Splice_Site	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr17:33341759C>T	ENST00000315249.7	-	6	1132	c.910G>A	c.(910-912)Ggg>Agg	p.G304R	RFFL_ENST00000413582.2_Intron|RFFL_ENST00000415395.2_Splice_Site_p.G304R|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000584655.1_Intron|RFFL_ENST00000394597.2_Splice_Site_p.G304R|RFFL_ENST00000378516.2_Intron|RFFL_ENST00000447669.2_Splice_Site_p.G304R|RFFL_ENST00000268850.7_Intron					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACTACATACCGTTTTGGTCT	0.438																																						ENST00000315249.7																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.e6+1		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							189.0	165.0	173.0					17																	33341759		2203	4300	6503	SO:0001630	splice_region_variant	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33341759C>T	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.910+1G>A	17.37:g.33341759C>T						RFFL_ENST00000584655.1_Intron|RFFL_ENST00000447669.2_Splice_Site_p.G304_splice|RFFL_ENST00000413582.2_Intron|RFFL_ENST00000394597.2_Splice_Site_p.G304_splice|RFFL_ENST00000378516.2_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000415395.2_Splice_Site_p.G304_splice|RFFL_ENST00000268850.7_Intron	p.G304_splice			Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	6	1132	-		Ovarian(249;0.17)	304						Splice_Site	SNP	ENST00000315249.7	37	c.910_splice	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370499	0.42003	.	.	ENSG00000092871	ENST00000315249;ENST00000394597	T;T	0.45276	0.9;0.9	4.96	3.98	0.46160	.	0.208183	0.50627	D	0.000115	T	0.23806	0.0576	N	0.12182	0.205	0.80722	D	1	B	0.14805	0.011	B	0.11329	0.006	T	0.05338	-1.0891	9	.	.	.	-13.015	12.2588	0.54638	0.1698:0.8302:0.0:0.0	.	304	Q8WZ73	RFFL_HUMAN	R	304	ENSP00000326170:G304R;ENSP00000378096:G304R	.	G	-	1	0	RFFL	30365872	0.991000	0.36638	0.942000	0.38095	0.983000	0.72400	1.439000	0.35013	1.433000	0.47394	0.655000	0.94253	GGG		0.438	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178	Missense_Mutation	44	63	0	0	0	1	0	44	63				
SH3GL2	6456	broad.mit.edu	37	9	17791307	17791307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:17791307C>T	ENST00000380607.4	+	7	823	c.703C>T	c.(703-705)Caa>Taa	p.Q235*	SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.Q188*	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	235	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GATCCTGCAGCAAGTCACGGT	0.423																																						ENST00000380607.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26						c.(703-705)Caa>Taa		SH3-domain GRB2-like 2							147.0	134.0	139.0					9																	17791307		2203	4300	6503	SO:0001587	stop_gained	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17791307C>T	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.703C>T	9.37:g.17791307C>T	ENSP00000369981:p.Gln235*					SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.Q188*	p.Q235*	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	7	823	+			235			BAR.		B2R618|Q9NQK5	Nonsense_Mutation	SNP	ENST00000380607.4	37	c.703C>T	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	C	36	5.734344	0.96865	.	.	ENSG00000107295	ENST00000541215;ENST00000397481;ENST00000380607;ENST00000537391	.	.	.	5.33	5.33	0.75918	.	0.220791	0.37809	N	0.001935	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	14.6106	0.68514	0.0:0.8545:0.1455:0.0	.	.	.	.	X	64;213;235;188	.	ENSP00000369981:Q235X	Q	+	1	0	SH3GL2	17781307	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.874000	0.56101	2.491000	0.84063	0.643000	0.83706	CAA		0.423	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		36	6	0	0	0	1	0	36	6				
PTGS2	5743	broad.mit.edu	37	1	186647446	186647446	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:186647446G>A	ENST00000367468.5	-	4	540	c.404C>T	c.(403-405)aCt>aTt	p.T135I	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	135					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	AAGGGCTCTAGTATAATAGGA	0.438																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(403-405)aCt>aTt		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						102.0	92.0	95.0					1																	186647446		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186647446G>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.404C>T	1.37:g.186647446G>A	ENSP00000356438:p.Thr135Ile					PTGS2_ENST00000490885.2_5'UTR	p.T135I	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			4	540	-			135					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.404C>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211841	0.95069	.	.	ENSG00000073756	ENST00000367468	T	0.18960	2.18	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	M	0.92317	3.295	0.80722	D	1	D	0.63046	0.992	D	0.63877	0.919	T	0.68085	-0.5502	10	0.87932	D	0	-20.695	19.4409	0.94820	0.0:0.0:1.0:0.0	.	135	P35354	PGH2_HUMAN	I	135	ENSP00000356438:T135I	ENSP00000356438:T135I	T	-	2	0	PTGS2	184914069	1.000000	0.71417	0.990000	0.47175	0.961000	0.63080	9.622000	0.98378	2.589000	0.87451	0.655000	0.94253	ACT		0.438	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		8	46	0	0	0	1	0	8	46				
ZNF134	7693	broad.mit.edu	37	19	58132424	58132424	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:58132424G>A	ENST00000396161.5	+	3	1247	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TCACACTGGAGAAAATCCTTA	0.423																																						ENST00000396161.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(937-939)Gaa>Aaa		zinc finger protein 134							127.0	131.0	130.0					19																	58132424		2201	4300	6501	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132424G>A	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.937G>A	19.37:g.58132424G>A	ENSP00000379464:p.Glu313Lys						p.E313K	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1247	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	313					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.937G>A	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648057	0.87958	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.24350	1.86	4.45	4.45	0.53987	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37999	0.1024	L	0.37697	1.125	0.37605	D	0.920718	D	0.63046	0.992	P	0.60286	0.872	T	0.39121	-0.9629	9	0.62326	D	0.03	.	16.3388	0.83075	0.0:0.0:1.0:0.0	.	313	P52741	ZN134_HUMAN	K	380;233;313	ENSP00000379464:E313K	ENSP00000379464:E313K	E	+	1	0	ZNF134	62824236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.808000	0.62583	2.458000	0.83093	0.561000	0.74099	GAA		0.423	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		88	98	0	0	0	1	0	88	98				
DDX47	51202	broad.mit.edu	37	12	12976860	12976860	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr12:12976860C>A	ENST00000358007.3	+	8	829	c.807C>A	c.(805-807)ttC>ttA	p.F269L	DDX47_ENST00000352940.4_Intron	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	269	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TTATGATATTCTGCAGCACCT	0.413																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(805-807)ttC>ttA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							172.0	170.0	171.0					12																	12976860		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12976860C>A	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.807C>A	12.37:g.12976860C>A	ENSP00000350698:p.Phe269Leu					RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Intron	p.F269L	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	8	829	+		Prostate(47;0.0526)	269			Helicase C-terminal.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.807C>A	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989562	0.93106	.	.	ENSG00000213782	ENST00000358007	T	0.10192	2.9	5.53	4.64	0.57946	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72750	-0.4199	10	0.87932	D	0	-15.234	16.4186	0.83751	0.0:0.8683:0.1317:0.0	.	269;269	Q9H4E3;Q9H0S4	.;DDX47_HUMAN	L	269	ENSP00000350698:F269L	ENSP00000350698:F269L	F	+	3	2	DDX47	12868127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.737000	0.62066	1.323000	0.45263	0.561000	0.74099	TTC		0.413	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		4	138	1	0	1	1	1	4	138				
SLC6A5	9152	broad.mit.edu	37	11	20648387	20648387	+	Splice_Site	SNP	C	C	T	rs146647574	byFrequency	TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:20648387C>T	ENST00000525748.1	+	8	1667	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	465					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACGGATGCCACGGTGGGCTTC	0.562																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.e8+1		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)	C	MET/THR	3,4403	6.2+/-15.9	0,3,2200	98.0	94.0	95.0		1394	6.0	1.0	11	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	SLC6A5	NM_004211.3	81	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	benign	465/798	20648387	5,13001	2203	4300	6503	SO:0001630	splice_region_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20648387C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1395+1C>T	11.37:g.20648387C>T							p.T465_splice	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			8	1667	+			465					O95288|Q4VAM7|Q9BX77	Splice_Site	SNP	ENST00000525748.1	37	c.1395_splice	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.269015	0.40095	6.81E-4	2.33E-4	ENSG00000165970	ENST00000525748	T	0.74842	-0.88	6.04	6.04	0.98038	.	0.134719	0.64402	D	0.000003	T	0.57888	0.2084	N	0.24115	0.695	0.36378	D	0.861716	B	0.26975	0.165	B	0.20184	0.028	T	0.61362	-0.7078	10	0.41790	T	0.15	.	8.3345	0.32206	0.0:0.8169:0.0:0.1831	.	465	Q9Y345	SC6A5_HUMAN	M	465	ENSP00000434364:T465M	ENSP00000434364:T465M	T	+	2	0	SLC6A5	20604963	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.045000	0.49838	2.873000	0.98535	0.561000	0.74099	ACG		0.562	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	Missense_Mutation	51	60	0	0	0	1	0	51	60				
PTCH2	8643	broad.mit.edu	37	1	45295299	45295299	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:45295299C>T	ENST00000372192.3	-	8	1200	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	PTCH2_ENST00000447098.2_Missense_Mutation_p.R357Q	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	357					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACAAAGCGCCGCTGCCAGGC	0.617									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1069-1071)cGg>cAg		patched 2							106.0	111.0	109.0					1																	45295299		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45295299C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1070G>A	1.37:g.45295299C>T	ENSP00000361266:p.Arg357Gln					PTCH2_ENST00000372192.3_Missense_Mutation_p.R357Q	p.R357Q	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			8	1081	-	Acute lymphoblastic leukemia(166;0.155)		357					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.1070G>A	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198780	0.94997	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.91521	-2.86;-2.86	4.53	4.53	0.55603	.	0.000000	0.48767	D	0.000167	D	0.95664	0.8590	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.982;0.987	D	0.95635	0.8693	10	0.46703	T	0.11	-22.4146	17.0576	0.86539	0.0:1.0:0.0:0.0	.	357;357	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	Q	357	ENSP00000389703:R357Q;ENSP00000361266:R357Q	ENSP00000361266:R357Q	R	-	2	0	PTCH2	45067886	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.262000	0.78410	2.356000	0.79943	0.561000	0.74099	CGG		0.617	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		13	155	0	0	0	1	0	13	155				
CTSD	1509	broad.mit.edu	37	11	1776173	1776173	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:1776173C>T	ENST00000236671.2	-	6	922	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.M134I	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	264					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTGCGGGTGACATTCAGGTAG	0.622																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(790-792)Gtc>Atc		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						107.0	95.0	99.0					11																	1776173		2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1776173C>T	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.790G>A	11.37:g.1776173C>T	ENSP00000236671:p.Val264Ile					RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.M134I	p.V264I	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	6	922	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	264					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.790G>A	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.18|15.18	2.757560|2.757560	0.49468|0.49468	.|.	.|.	ENSG00000250644|ENSG00000117984	ENST00000427721|ENST00000236671;ENST00000429746;ENST00000438213	.|T;T;T	.|0.61742	.|0.08;0.32;0.08	4.25|4.25	4.25|4.25	0.50352|0.50352	.|Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	.|0.131711	.|0.51477	.|D	.|0.000092	T|T	0.59280|0.59280	0.2182|0.2182	M|M	0.62266|0.62266	1.93|1.93	0.49798|0.49798	D|D	0.999826|0.999826	.|P	.|0.37864	.|0.61	.|B	.|0.39738	.|0.308	T|T	0.65747|0.65747	-0.6093|-0.6093	5|10	.|0.52906	.|T	.|0.07	.|.	17.2115|17.2115	0.86931|0.86931	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|264	.|P07339	.|CATD_HUMAN	I|I	134|264;2;249	.|ENSP00000236671:V264I;ENSP00000402586:V2I;ENSP00000415036:V249I	.|ENSP00000236671:V264I	M|V	-|-	3|1	0|0	RP11-295K3.1|CTSD	1732749|1732749	0.921000|0.921000	0.31238|0.31238	0.998000|0.998000	0.56505|0.56505	0.664000|0.664000	0.39144|0.39144	1.713000|1.713000	0.37951|0.37951	2.373000|2.373000	0.80994|0.80994	0.455000|0.455000	0.32223|0.32223	ATG|GTC		0.622	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		36	51	0	0	0	1	0	36	51				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	63	0	0	0	1	0	4	63				
TFAP2B	7021	broad.mit.edu	37	6	50810837	50810837	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr6:50810837C>T	ENST00000393655.3	+	7	1284	c.1115C>T	c.(1114-1116)gCg>gTg	p.A372V	TFAP2B_ENST00000263046.4_Missense_Mutation_p.A381V	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	372				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GATCTACTGGCGCAGGACCGG	0.567																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1141-1143)gCg>gTg		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							88.0	94.0	92.0					6																	50810837		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50810837C>T	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1115C>T	6.37:g.50810837C>T	ENSP00000377265:p.Ala372Val					TFAP2B_ENST00000393655.3_Missense_Mutation_p.A372V	p.A381V			Q92481	AP2B_HUMAN			8	1308	+	Lung NSC(77;0.156)		372	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).				Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.1142C>T	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562086	0.86335	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.96940	-4.18;-4.18	4.79	4.79	0.61399	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92731	0.7689	M	0.62723	1.935	0.80722	D	1	P	0.48016	0.904	B	0.34991	0.193	D	0.94112	0.7372	10	0.72032	D	0.01	-12.2286	17.8403	0.88713	0.0:1.0:0.0:0.0	.	372	Q92481	AP2B_HUMAN	V	372;381	ENSP00000377265:A372V;ENSP00000263046:A381V	ENSP00000263046:A381V	A	+	2	0	TFAP2B	50918796	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.214000	0.71695	0.655000	0.94253	GCG		0.567	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		7	235	0	0	0	1	0	7	235				
PKHD1	5314	broad.mit.edu	37	6	51484229	51484229	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr6:51484229T>C	ENST00000371117.3	-	67	12150	c.11875A>G	c.(11875-11877)Att>Gtt	p.I3959V	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3959					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTCGGACAATGTGGCGGCTA	0.552																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11875-11877)Att>Gtt		polycystic kidney and hepatic disease 1 (autosomal recessive)							104.0	96.0	99.0					6																	51484229		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51484229T>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11875A>G	6.37:g.51484229T>C	ENSP00000360158:p.Ile3959Val					RP3-335N17.2_ENST00000589278.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	p.I3959V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			67	12150	-	Lung NSC(77;0.0605)		3959					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11875A>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	0.124	-1.121806	0.01785	.	.	ENSG00000170927	ENST00000371117	D	0.85088	-1.94	5.53	-8.57	0.00900	.	1.722310	0.02890	N	0.134077	T	0.23611	0.0571	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	10	0.02654	T	1	.	2.868	0.05608	0.2026:0.1797:0.0999:0.5179	.	3959	P08F94	PKHD1_HUMAN	V	3959	ENSP00000360158:I3959V	ENSP00000360158:I3959V	I	-	1	0	PKHD1	51592188	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.790000	0.04604	-2.270000	0.00683	-2.325000	0.00251	ATT		0.552	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		77	71	0	0	0	1	0	77	71				
TAS2R4	50832	broad.mit.edu	37	7	141478836	141478836	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr7:141478836T>G	ENST00000247881.2	+	1	595	c.548T>G	c.(547-549)tTg>tGg	p.L183W	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	183					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCTTTGGTCTTGAGCTCATCT	0.408																																						ENST00000247881.2																			0				endometrium(1)|large_intestine(4)|lung(2)	7						c.(547-549)tTg>tGg		taste receptor, type 2, member 4							228.0	227.0	227.0					7																	141478836		2203	4300	6503	SO:0001583	missense	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478836T>G	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.548T>G	7.37:g.141478836T>G	ENSP00000247881:p.Leu183Trp					SSBP1_ENST00000465582.1_Intron	p.L183W	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	595	+	Melanoma(164;0.0171)		183					Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	c.548T>G	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	t	13.12	2.140897	0.37825	.	.	ENSG00000127364	ENST00000247881	T	0.44881	0.91	5.31	2.96	0.34315	.	0.534639	0.18231	N	0.147574	T	0.59376	0.2189	M	0.75884	2.315	0.09310	N	1	D	0.71674	0.998	D	0.70227	0.968	T	0.49952	-0.8884	10	0.87932	D	0	.	8.1587	0.31185	0.0:0.1632:0.0:0.8368	.	183	Q9NYW5	TA2R4_HUMAN	W	183	ENSP00000247881:L183W	ENSP00000247881:L183W	L	+	2	0	TAS2R4	141125305	0.000000	0.05858	0.016000	0.15963	0.483000	0.33249	0.653000	0.24902	0.489000	0.27749	0.515000	0.50301	TTG		0.408	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			86	137	0	0	0	1	0	86	137				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	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	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	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.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	p.R248Q	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)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	8	0	0	0	1	0	31	8				
KIR3DL1	3811	broad.mit.edu	37	19	55341599	55341599	+	Missense_Mutation	SNP	G	G	A	rs201105125	byFrequency	TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:55341599G>A	ENST00000391728.4	+	9	1237	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D307N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D402N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D385N|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D385N	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	402					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CGCACAGTTGGATCACTGCGT	0.512													.|||	12	0.00239617	0.0038	0.0014	5008	,	,		15574	0.0		0.005	False		,,,				2504	0.001					ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1204-1206)Gat>Aat		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							269.0	244.0	253.0					19																	55341599		2171	4171	6342	SO:0001583	missense	3811							g.chr19:55341599G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1204G>A	19.37:g.55341599G>A	ENSP00000375608:p.Asp402Asn					KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D307N|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D385N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D402N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D385N	p.D402N	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	9	1237	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1204G>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	4.019	0.000930	0.07819	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00470	7.3;7.2;7.3;7.2;7.28	0.719	-0.453	0.12201	.	.	.	.	.	T	0.00300	0.0009	L	0.31476	0.935	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.14578	0.011;0.008;0.007	T	0.35051	-0.9804	8	0.42905	T	0.14	.	.	.	.	.	385;307;402	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	N	402;385;380;402;385;307	ENSP00000443350:D402N;ENSP00000442355:D385N;ENSP00000375608:D402N;ENSP00000326868:D385N;ENSP00000350901:D307N	ENSP00000326868:D385N	D	+	1	0	KIR3DL1	60033411	0.003000	0.15002	0.001000	0.08648	0.025000	0.11179	0.526000	0.22971	-0.130000	0.11599	0.184000	0.17185	GAT		0.512	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		5	332	0	0	0	1	0	5	332				
ZIC1	7545	broad.mit.edu	37	3	147128793	147128793	+	Silent	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:147128793C>T	ENST00000282928.4	+	1	1623	c.894C>T	c.(892-894)ggC>ggT	p.G298G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	298					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TGCACACGGGCGAGAAGCCCT	0.557																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(892-894)ggC>ggT		Zic family member 1							94.0	97.0	96.0					3																	147128793		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128793C>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.894C>T	3.37:g.147128793C>T							p.G298G	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1623	+			298					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.894C>T	CCDS3136.1																																																																																				0.557	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		11	160	0	0	0	1	0	11	160				
LRRIQ3	127255	broad.mit.edu	37	1	74575077	74575077	+	Splice_Site	SNP	C	C	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:74575077C>A	ENST00000395089.1	-	4	867		c.e4+1		LRRIQ3_ENST00000370909.2_Splice_Site|LRRIQ3_ENST00000468759.1_Splice_Site|LRRIQ3_ENST00000354431.4_Splice_Site			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3											NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ATTATACTTACATGTTTCCAA	0.269																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.e5+1		leucine-rich repeats and IQ motif containing 3							45.0	36.0	39.0					1																	74575077		1777	4037	5814	SO:0001630	splice_region_variant	127255							g.chr1:74575077C>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.867+1G>T	1.37:g.74575077C>A						LRRIQ3_ENST00000395089.1_Splice_Site|LRRIQ3_ENST00000370909.2_Splice_Site|LRRIQ3_ENST00000468759.1_Splice_Site		NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			5	1059	-								A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Splice_Site	SNP	ENST00000395089.1	37		CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762185	0.69763	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972	.	.	.	3.83	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5518	0.50725	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRRIQ3	74347665	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	3.152000	0.50677	2.438000	0.82558	0.585000	0.79938	.		0.269	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	Intron	4	6	1	0	0.00024832	1	0.000255961	4	6				
C10orf105	414152	broad.mit.edu	37	10	73468898	73468898	+	IGR	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr10:73468898C>T	ENST00000441508.2	-	0	4837				CDH23_ENST00000224721.6_Silent_p.A1055A	NM_001164375.2	NP_001157847.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											ACCGCGATGCCGTTGTGAGAA	0.627																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(3163-3165)gcC>gcT		cadherin-related 23							94.0	115.0	108.0					10																	73468898		2144	4249	6393	SO:0001628	intergenic_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73468898C>T	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427		10.37:g.73468898C>T							p.A1055A	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			26	3170	+			1050			Cadherin 10.			Silent	SNP	ENST00000441508.2	37	c.3165C>T	CCDS44430.1																																																																																				0.627	C10orf105-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		6	60	0	0	0	1	0	6	60				
MAG	4099	broad.mit.edu	37	19	35800810	35800810	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:35800810C>T	ENST00000392213.3	+	8	1424	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	MAG_ENST00000537831.2_Missense_Mutation_p.A397V|MAG_ENST00000361922.4_Missense_Mutation_p.A422V|MAG_ENST00000593348.1_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	422	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCCCACTGCGCGGCAGCCCGA	0.677																																						ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1264-1266)gCg>gTg		myelin associated glycoprotein							66.0	72.0	70.0					19																	35800810		2203	4298	6501	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35800810C>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1265C>T	19.37:g.35800810C>T	ENSP00000376048:p.Ala422Val					MAG_ENST00000392213.3_Missense_Mutation_p.A422V|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.A397V	p.A422V	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1415	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	422			Ig-like C2-type 4.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.1265C>T	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062838	0.76187	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.13196	2.61;2.61;2.61	5.33	5.33	0.75918	.	0.055575	0.64402	D	0.000001	T	0.06234	0.0161	N	0.14661	0.345	0.42430	D	0.992675	P;P;P	0.49559	0.907;0.87;0.925	B;B;B	0.33521	0.165;0.089;0.146	T	0.25012	-1.0144	10	0.02654	T	1	.	16.4987	0.84252	0.0:1.0:0.0:0.0	.	459;422;422	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	V	459;422;422;397	ENSP00000355234:A422V;ENSP00000376048:A422V;ENSP00000440695:A397V	ENSP00000262624:A459V	A	+	2	0	MAG	40492650	0.977000	0.34250	0.643000	0.29450	0.960000	0.62799	5.366000	0.66122	2.497000	0.84241	0.462000	0.41574	GCG		0.677	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		5	201	0	0	0	1	0	5	201				
SCN1A	6323	broad.mit.edu	37	2	166908358	166908358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:166908358G>A	ENST00000303395.4	-	6	834	c.835C>T	c.(835-837)Caa>Taa	p.Q279*	SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q279*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q279*			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	279					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGAGGCCATTGTATACATTTA	0.393																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(835-837)Caa>Taa		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						95.0	95.0	95.0					2																	166908358		2203	4299	6502	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166908358G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.835C>T	2.37:g.166908358G>A	ENSP00000303540:p.Gln279*					AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q279*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q279*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA	p.Q279*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			6	852	-			279					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.835C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734358	0.89482	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8211	0.63320	0.0736:0.0:0.9264:0.0	.	.	.	.	X	279	.	ENSP00000303540:Q279X	Q	-	1	0	SCN1A	166616604	0.980000	0.34600	0.623000	0.29173	0.662000	0.39071	2.579000	0.46059	2.688000	0.91661	0.655000	0.94253	CAA		0.393	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		32	27	0	0	0	1	0	32	27				
RHO	6010	broad.mit.edu	37	3	129251241	129251241	+	Silent	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:129251241C>T	ENST00000296271.3	+	3	772	c.678C>T	c.(676-678)ctC>ctT	p.L226L		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	226					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ATGGGCAGCTCGTCTTCACCG	0.592																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	ENST00000296271.3																			0				breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(676-678)ctC>ctT		rhodopsin	Halothane(DB01159)						177.0	156.0	163.0					3																	129251241		2203	4300	6503	SO:0001819	synonymous_variant	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129251241C>T	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.678C>T	3.37:g.129251241C>T							p.L226L	NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	3	772	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	226					Q16414|Q2M249	Silent	SNP	ENST00000296271.3	37	c.678C>T	CCDS3063.1																																																																																				0.592	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		59	50	0	0	0	1	0	59	50				
PARP4	143	broad.mit.edu	37	13	25021264	25021264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr13:25021264G>A	ENST00000381989.3	-	26	3280	c.3175C>T	c.(3175-3177)Cag>Tag	p.Q1059*		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1059					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTGAGTTGCTGCCATTTGACG	0.478																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3175-3177)Cag>Tag		poly (ADP-ribose) polymerase family, member 4							68.0	65.0	66.0					13																	25021264		2203	4300	6503	SO:0001587	stop_gained	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25021264G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3175C>T	13.37:g.25021264G>A	ENSP00000371419:p.Gln1059*						p.Q1059*	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	26	3280	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1059					O75903|Q14682|Q5QNZ9|Q9H1M6	Nonsense_Mutation	SNP	ENST00000381989.3	37	c.3175C>T	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	39	7.772638	0.98480	.	.	ENSG00000102699	ENST00000381989	.	.	.	4.71	4.71	0.59529	.	0.121088	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.7634	10.6122	0.45429	0.0:0.0:0.8082:0.1918	.	.	.	.	X	1059	.	ENSP00000371419:Q1059X	Q	-	1	0	PARP4	23919264	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	5.656000	0.67988	2.615000	0.88500	0.644000	0.83932	CAG		0.478	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		4	64	0	0	0	1	0	4	64				
NTRK3	4916	broad.mit.edu	37	15	88576148	88576148	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr15:88576148G>A	ENST00000360948.2	-	13	1686	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S	NTRK3_ENST00000317501.3_Missense_Mutation_p.P509S|NTRK3_ENST00000542733.2_Missense_Mutation_p.P411S|NTRK3_ENST00000394480.2_Missense_Mutation_p.P509S|NTRK3_ENST00000355254.2_Missense_Mutation_p.P509S|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000557856.1_Missense_Mutation_p.P501S|NTRK3_ENST00000357724.2_Missense_Mutation_p.P501S|NTRK3_ENST00000558676.1_Missense_Mutation_p.P501S|NTRK3_ENST00000540489.2_Missense_Mutation_p.P509S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	509					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCAATGACAGGGATGCGAGTC	0.607			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1525-1527)Cct>Tct		neurotrophic tyrosine kinase, receptor, type 3							111.0	78.0	89.0					15																	88576148		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88576148G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1525C>T	15.37:g.88576148G>A	ENSP00000354207:p.Pro509Ser	TSP Lung(13;0.10)				NTRK3_ENST00000540489.2_Missense_Mutation_p.P509S|NTRK3_ENST00000360948.2_Missense_Mutation_p.P509S|NTRK3_ENST00000357724.2_Missense_Mutation_p.P501S|NTRK3_ENST00000317501.3_Missense_Mutation_p.P509S|NTRK3_ENST00000558676.1_Missense_Mutation_p.P501S|NTRK3_ENST00000542733.2_Missense_Mutation_p.P411S|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000557856.1_Missense_Mutation_p.P501S|NTRK3_ENST00000355254.2_Missense_Mutation_p.P509S	p.P509S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		14	1846	-			509					B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1525C>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980825	0.74474	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000343782;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.73681	-0.77;-0.72;-0.69;-0.77;-0.65;0.04;0.04	4.91	3.96	0.45880	.	0.055096	0.85682	D	0.000000	T	0.81240	0.4781	L	0.56280	1.765	0.58432	D	0.999999	D;D;D;D;D;P	0.89917	1.0;1.0;0.998;1.0;1.0;0.892	D;D;D;D;D;P	0.87578	0.996;0.996;0.954;0.996;0.998;0.719	T	0.79864	-0.1623	10	0.41790	T	0.15	.	11.0307	0.47772	0.0945:0.0:0.9055:0.0	.	411;501;501;509;509;509	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	509;509;501;509;411;5;509;509	ENSP00000377990:P509S;ENSP00000354207:P509S;ENSP00000350356:P501S;ENSP00000347397:P509S;ENSP00000437773:P411S;ENSP00000444673:P509S;ENSP00000318328:P509S	ENSP00000318328:P509S	P	-	1	0	NTRK3	86377152	1.000000	0.71417	0.866000	0.34008	0.786000	0.44442	7.324000	0.79115	1.209000	0.43321	0.650000	0.86243	CCT		0.607	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				12	16	0	0	0	1	0	12	16				
SMEK2	57223	broad.mit.edu	37	2	55844316	55844316	+	Missense_Mutation	SNP	T	T	C	rs199629271		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:55844316T>C	ENST00000345102.5	-	1	407	c.106A>G	c.(106-108)Aag>Gag	p.K36E	SMEK2_ENST00000407823.3_Missense_Mutation_p.K36E|SMEK2_ENST00000272313.5_Missense_Mutation_p.K36E|RP11-554J4.1_ENST00000608113.1_RNA|SMEK2_ENST00000477749.1_5'UTR	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	36	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GACATCCCCTTGAGCTCCTCC	0.592													T|||	1	0.000199681	0.0	0.0	5008	,	,		18889	0.001		0.0	False		,,,				2504	0.0					ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(106-108)Aag>Gag		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							77.0	72.0	73.0					2																	55844316		2203	4300	6503	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55844316T>C	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.106A>G	2.37:g.55844316T>C	ENSP00000339769:p.Lys36Glu					SMEK2_ENST00000407823.3_Missense_Mutation_p.K36E|SMEK2_ENST00000345102.5_Missense_Mutation_p.K36E|SMEK2_ENST00000477749.1_5'UTR	p.K36E	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		1	433	-			36			WH1.		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.106A>G	CCDS46289.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	18.75	3.690970	0.68271	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.42513	0.97;0.97;0.97	5.19	5.19	0.71726	Pleckstrin homology-type (1);	0.046693	0.85682	D	0.000000	T	0.23572	0.0570	N	0.05050	-0.12	0.80722	D	1	B;B;B	0.12013	0.002;0.005;0.0	B;B;B	0.14578	0.005;0.011;0.002	T	0.08086	-1.0739	10	0.19590	T	0.45	-10.6913	15.2232	0.73330	0.0:0.0:0.0:1.0	.	36;36;36	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3	.;P4R3B_HUMAN;.	E	36	ENSP00000272313:K36E;ENSP00000385912:K36E;ENSP00000339769:K36E	ENSP00000272313:K36E	K	-	1	0	SMEK2	55697820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.554000	0.82212	2.184000	0.69523	0.533000	0.62120	AAG		0.592	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		38	52	0	0	0	1	0	38	52				
SNHG14	104472715	broad.mit.edu	37	15	25415718	25415718	+	RNA	SNP	A	A	G	rs553198032		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr15:25415718A>G	ENST00000441592.2	+	0	0				SNORD115-1_ENST00000364961.1_RNA|SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GTTGGGCCCAATGGCCCTCGG	0.627																																						ENST00000549301.1																			0																																																			0							g.chr15:25415718A>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25415718A>G						SNHG14_ENST00000553149.1_RNA								0	232	+									RNA	SNP	ENST00000441592.2	37																																																																																						0.627	SNHG14-009	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126736.3			8	16	0	0	0	1	0	8	16				
SPIRE1	56907	broad.mit.edu	37	18	12463458	12463458	+	Silent	SNP	G	G	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr18:12463458G>T	ENST00000409402.4	-	12	1797	c.1530C>A	c.(1528-1530)ccC>ccA	p.P510P	SPIRE1_ENST00000410092.3_Silent_p.P496P|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000383356.2_Silent_p.P337P|SPIRE1_ENST00000309836.5_Silent_p.P299P|SPIRE1_ENST00000453447.2_Silent_p.P376P	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TCTCTGGCTGGGGTGTTGATG	0.458																																						ENST00000409402.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(1528-1530)ccC>ccA		spire-type actin nucleation factor 1							96.0	92.0	93.0					18																	12463458		2203	4300	6503	SO:0001819	synonymous_variant	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12463458G>T	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1530C>A	18.37:g.12463458G>T						SPIRE1_ENST00000410092.3_Silent_p.P496P|SPIRE1_ENST00000309836.5_Silent_p.P299P|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000383356.2_Silent_p.P337P|SPIRE1_ENST00000453447.2_Silent_p.P376P	p.P510P	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN			12	1797	-			510						Silent	SNP	ENST00000409402.4	37	c.1530C>A	CCDS45829.1																																																																																				0.458	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		5	45	1	0	1.024e-07	1	1.072e-07	5	45				
ALDH1A1	216	broad.mit.edu	37	9	75526938	75526938	+	Missense_Mutation	SNP	C	C	A	rs142280224		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:75526938C>A	ENST00000297785.3	-	10	1190	c.1136G>T	c.(1135-1137)gGc>gTc	p.G379V		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	379					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	GACAAAGTAGCCTTTATTCCC	0.443																																						ENST00000297785.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.(1135-1137)gGc>gTc		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						156.0	137.0	144.0					9																	75526938		2203	4300	6503	SO:0001583	missense	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75526938C>A	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1136G>T	9.37:g.75526938C>A	ENSP00000297785:p.Gly379Val						p.G379V	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN			10	1190	-			379					O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	c.1136G>T	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014904	0.93404	.	.	ENSG00000165092	ENST00000297785	D	0.83992	-1.79	5.91	5.91	0.95273	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.139731	0.49916	D	0.000133	D	0.95156	0.8430	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96263	0.9192	10	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	300;379	B4DDF8;P00352	.;AL1A1_HUMAN	V	379	ENSP00000297785:G379V	ENSP00000297785:G379V	G	-	2	0	ALDH1A1	74716758	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.416000	0.80143	2.813000	0.96785	0.655000	0.94253	GGC		0.443	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			45	78	1	0	4.64027e-19	1	4.93489e-19	45	78				
HHAT	55733	broad.mit.edu	37	1	210522367	210522367	+	Silent	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:210522367C>T	ENST00000367010.1	+	2	275	c.48C>T	c.(46-48)ggC>ggT	p.G16G	HHAT_ENST00000545154.1_Intron|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000537898.1_Silent_p.G16G|HHAT_ENST00000261458.3_Silent_p.G16G|HHAT_ENST00000413764.2_Silent_p.G16G|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000391905.3_Silent_p.G16G|HHAT_ENST00000541565.1_Silent_p.G16G	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	16					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCTCACTAGGCTTCCACTTCT	0.478																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(46-48)ggC>ggT		hedgehog acyltransferase							121.0	103.0	109.0					1																	210522367		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210522367C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.48C>T	1.37:g.210522367C>T						HHAT_ENST00000545781.1_Intron|HHAT_ENST00000413764.2_Silent_p.G16G|HHAT_ENST00000261458.3_Silent_p.G16G|HHAT_ENST00000541565.1_Silent_p.G16G|HHAT_ENST00000537898.1_Silent_p.G16G|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545154.1_Intron|HHAT_ENST00000391905.3_Silent_p.G16G	p.G16G	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	2	275	+			16					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.48C>T	CCDS1495.1																																																																																				0.478	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		18	30	0	0	0	1	0	18	30				
CDH9	1007	broad.mit.edu	37	5	26885932	26885932	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:26885932C>T	ENST00000231021.4	-	11	1845	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATTTTGTTGCGACTGTAGCC	0.383																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1672-1674)cGc>cAc		cadherin 9, type 2 (T1-cadherin)							67.0	64.0	65.0					5																	26885932		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885932C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1673G>A	5.37:g.26885932C>T	ENSP00000231021:p.Arg558His						p.R558H	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			11	1845	-			558			Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1673G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219895	0.95139	.	.	ENSG00000113100	ENST00000231021	T	0.60040	0.22	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.052610	0.85682	D	0.000000	D	0.83815	0.5336	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.973;0.991	D	0.88118	0.2830	9	.	.	.	.	18.5999	0.91246	0.0:1.0:0.0:0.0	.	151;558	B4DFP0;Q9ULB4	.;CADH9_HUMAN	H	558	ENSP00000231021:R558H	.	R	-	2	0	CDH9	26921689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.931000	0.63469	2.740000	0.93945	0.563000	0.77884	CGC		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		22	31	0	0	0	1	0	22	31				
GNAS	2778	broad.mit.edu	37	20	57415456	57415456	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr20:57415456G>C	ENST00000313949.7	+	1	684	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.E99Q|GNAS_ENST00000371098.2_Missense_Mutation_p.E99Q|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0			L -> P (in AHO). {ECO:0000269|PubMed:8388883}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTCCCTCCCCGAGTGCCTAGA	0.622			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(295-297)Gag>Cag		GNAS complex locus							73.0	76.0	75.0					20																	57415456		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415456G>C	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.295G>C	20.37:g.57415456G>C	ENSP00000323571:p.Glu99Gln	TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Missense_Mutation_p.E99Q|GNAS_ENST00000371075.3_Missense_Mutation_p.E99Q|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA	p.E99Q			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	684	+	all_lung(29;0.0104)		101		L -> P (in AHO).			A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	c.295G>C	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.433121	0.43224	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075;ENST00000453292	.	.	.	4.36	3.31	0.37934	.	.	.	.	.	T	0.52191	0.1719	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	D	0.63957	0.92	T	0.48068	-0.9067	8	0.41790	T	0.15	.	9.4662	0.38813	0.0:0.2169:0.7831:0.0	.	99	O95467	GNAS3_HUMAN	Q	99;99;99;20	.	ENSP00000323571:E99Q	E	+	1	0	GNAS	56848851	1.000000	0.71417	0.996000	0.52242	0.579000	0.36224	2.572000	0.45999	2.375000	0.81037	0.585000	0.79938	GAG		0.622	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		4	119	0	0	0	1	0	4	119				
NOVA2	4858	broad.mit.edu	37	19	46443285	46443285	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:46443285G>A	ENST00000263257.5	-	4	1509	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	439	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		ATCTGGATGCGAGCGCCCGTC	0.657																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21						c.(1315-1317)Cgc>Tgc		neuro-oncological ventral antigen 2							107.0	109.0	108.0					19																	46443285		2203	4300	6503	SO:0001583	missense	4858					nucleus	RNA binding	g.chr19:46443285G>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.1315C>T	19.37:g.46443285G>A	ENSP00000263257:p.Arg439Cys						p.R439C	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	1509	-		all_neural(266;0.113)|Ovarian(192;0.127)	439			KH 3.		O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	c.1315C>T	CCDS12679.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.048911	0.55110	.	.	ENSG00000104967	ENST00000263257	T	0.33654	1.4	3.17	2.09	0.27110	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	M	0.88450	2.955	0.54753	D	0.999982	P	0.47034	0.889	P	0.55222	0.771	T	0.62358	-0.6871	10	0.72032	D	0.01	-2.895	10.1545	0.42814	0.0:0.2059:0.794:0.0	.	439	Q9UNW9	NOVA2_HUMAN	C	439	ENSP00000263257:R439C	ENSP00000263257:R439C	R	-	1	0	NOVA2	51135125	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.753000	0.38359	0.680000	0.31366	0.306000	0.20318	CGC		0.657	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		20	207	0	0	0	1	0	20	207				
MTMR1	8776	broad.mit.edu	37	X	149895775	149895775	+	Silent	SNP	C	C	T	rs372879184		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chrX:149895775C>T	ENST00000370390.3	+	4	574	c.417C>T	c.(415-417)gtC>gtT	p.V139V	MTMR1_ENST00000538506.1_Silent_p.V26V|MTMR1_ENST00000541925.1_Silent_p.V45V|MTMR1_ENST00000445323.2_Silent_p.V147V|MTMR1_ENST00000544228.1_Silent_p.V139V|MTMR1_ENST00000451863.2_Silent_p.V139V|MTMR1_ENST00000542156.1_Silent_p.V139V	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	139	GRAM.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.V139V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAAAATGTCGAGAGGGTGA	0.358													c|||	2	0.000529801	0.0015	0.0	3775	,	,		12266	0.0		0.0	False		,,,				2504	0.0					ENST00000445323.2																			1	Substitution - coding silent(1)	p.V139V(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(439-441)gtC>gtT		myotubularin related protein 1		C		1,3834		0,1,1631,571	120.0	99.0	106.0		417	-8.8	0.0	X		106	0,6728		0,0,2428,1872	no	coding-synonymous	MTMR1	NM_003828.2		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		139/666	149895775	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149895775C>T	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.417C>T	X.37:g.149895775C>T						MTMR1_ENST00000541925.1_Silent_p.V45V|MTMR1_ENST00000370390.3_Silent_p.V139V|MTMR1_ENST00000451863.2_Silent_p.V139V|MTMR1_ENST00000544228.1_Silent_p.V139V|MTMR1_ENST00000538506.1_Silent_p.V26V|MTMR1_ENST00000542156.1_Silent_p.V139V	p.V147V			Q13613	MTMR1_HUMAN			5	562	+	Acute lymphoblastic leukemia(192;6.56e-05)		139			GRAM.		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	c.441C>T	CCDS14695.1																																																																																				0.358	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		31	1	0	0	0	1	0	31	1				
ITGA3	3675	broad.mit.edu	37	17	48151325	48151325	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr17:48151325T>A	ENST00000320031.8	+	8	1532	c.1202T>A	c.(1201-1203)aTc>aAc	p.I401N	ITGA3_ENST00000544892.1_Missense_Mutation_p.I176N|ITGA3_ENST00000007722.7_Missense_Mutation_p.I401N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	401					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AAAGTGTACATCTATCACAGT	0.577																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(1201-1203)aTc>aAc		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							110.0	108.0	108.0					17																	48151325		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48151325T>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.1202T>A	17.37:g.48151325T>A	ENSP00000315190:p.Ile401Asn					ITGA3_ENST00000544892.1_Missense_Mutation_p.I176N|ITGA3_ENST00000007722.7_Missense_Mutation_p.I401N	p.I401N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			8	1532	+			401					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.1202T>A	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280593	0.80692	.	.	ENSG00000005884	ENST00000544892;ENST00000007722;ENST00000538917;ENST00000320031	T;T;T	0.74526	-0.85;2.33;2.33	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.90045	0.6891	H	0.96269	3.795	0.58432	D	0.999993	D;D	0.76494	0.983;0.999	P;D	0.65987	0.813;0.94	D	0.92995	0.6418	10	0.87932	D	0	.	15.433	0.75116	0.0:0.0:0.0:1.0	.	401;401	P26006-1;P26006	.;ITA3_HUMAN	N	176;401;387;401	ENSP00000446133:I176N;ENSP00000007722:I401N;ENSP00000315190:I401N	ENSP00000007722:I401N	I	+	2	0	ITGA3	45506324	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	7.686000	0.84128	2.288000	0.76882	0.533000	0.62120	ATC		0.577	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		25	40	0	0	0	1	0	25	40				
PCDH18	54510	broad.mit.edu	37	4	138452262	138452262	+	Silent	SNP	T	T	C			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr4:138452262T>C	ENST00000344876.4	-	1	1367	c.981A>G	c.(979-981)caA>caG	p.Q327Q	PCDH18_ENST00000507846.1_Silent_p.Q107Q|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Silent_p.Q327Q|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	327	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GACCCAAATCTTGAGCCTGAA	0.353																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(979-981)caA>caG		protocadherin 18							30.0	33.0	32.0					4																	138452262		2189	4296	6485	SO:0001819	synonymous_variant	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452262T>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.981A>G	4.37:g.138452262T>C						PCDH18_ENST00000412923.2_Silent_p.Q327Q|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.Q107Q	p.Q327Q	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	1367	-	all_hematologic(180;0.24)		327			Cadherin 3.		A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	c.981A>G	CCDS34064.1																																																																																				0.353	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		14	21	0	0	0	1	0	14	21				
KCNJ5	3762	broad.mit.edu	37	11	128781513	128781513	+	Silent	SNP	G	G	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:128781513G>T	ENST00000338350.4	+	3	697	c.345G>T	c.(343-345)cgG>cgT	p.R115R	KCNJ5_ENST00000529694.1_Silent_p.R115R|KCNJ5_ENST00000533599.1_Silent_p.R115R			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	115					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CTTATATCCGGGGTGACCTGG	0.507																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(343-345)cgG>cgT		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						131.0	128.0	129.0					11																	128781513		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781513G>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.345G>T	11.37:g.128781513G>T						KCNJ5_ENST00000338350.4_Silent_p.R115R|KCNJ5_ENST00000533599.1_Silent_p.R115R	p.R115R	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	721	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	115					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.345G>T	CCDS8479.1																																																																																				0.507	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		58	61	1	0	1.27862e-28	1	1.38173e-28	58	61				
CCNJL	79616	broad.mit.edu	37	5	159680553	159680553	+	Silent	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:159680553G>A	ENST00000393977.3	-	7	1425	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	CCNJL_ENST00000257536.7_Silent_p.T332T|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	380						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGGTACGGGGTGTGGAGGG	0.632																																						ENST00000393977.3																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1138-1140)acC>acT		cyclin J-like							71.0	79.0	76.0					5																	159680553		2116	4240	6356	SO:0001819	synonymous_variant	79616					nucleus		g.chr5:159680553G>A	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1140C>T	5.37:g.159680553G>A						CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.T332T	p.T380T	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1425	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	380					Q6ZN43|Q9H7W8	Silent	SNP	ENST00000393977.3	37	c.1140C>T	CCDS4350.2																																																																																				0.632	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		33	54	0	0	0	1	0	33	54				
ADCK3	56997	broad.mit.edu	37	1	227170646	227170646	+	Missense_Mutation	SNP	T	T	G	rs201334858		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:227170646T>G	ENST00000366779.1	+	13	3762	c.991T>G	c.(991-993)Ttc>Gtc	p.F331V	ADCK3_ENST00000366777.3_Missense_Mutation_p.F331V|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366778.1_Missense_Mutation_p.F279V|ADCK3_ENST00000458507.2_Missense_Mutation_p.F52V			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	331	Protein kinase.				cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GTTGGAATACTTCGAGGAGCG	0.647																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(991-993)Ttc>Gtc		aarF domain containing kinase 3							19.0	21.0	20.0					1																	227170646		2200	4298	6498	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227170646T>G	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.991T>G	1.37:g.227170646T>G	ENSP00000355741:p.Phe331Val					ADCK3_ENST00000366777.3_Missense_Mutation_p.F331V|ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366775.1_Missense_Mutation_p.F176V|ADCK3_ENST00000366778.1_Missense_Mutation_p.F279V|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000458507.2_Missense_Mutation_p.F52V|ADCK3_ENST00000366776.1_Missense_Mutation_p.F256V	p.F331V			Q8NI60	ADCK3_HUMAN			13	3762	+			331			Protein kinase.		Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.991T>G	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	T	36	5.673105	0.96754	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743	T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.66	5.66	0.87406	ABC-1 (1);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85120	0.5624	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.88651	0.3182	10	0.87932	D	0	-15.7929	15.8882	0.79269	0.0:0.0:0.0:1.0	.	331	Q8NI60	ADCK3_HUMAN	V	331;279;331;256;52;176;282	ENSP00000355741:F331V;ENSP00000355740:F279V;ENSP00000355739:F331V;ENSP00000355738:F256V;ENSP00000403704:F52V;ENSP00000355737:F176V	ENSP00000355737:F176V	F	+	1	0	ADCK3	225237269	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.997000	0.88414	2.166000	0.68216	0.454000	0.30748	TTC		0.647	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		10	12	0	0	0	1	0	10	12				
VCAN	1462	broad.mit.edu	37	5	82815919	82815919	+	Silent	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:82815919G>A	ENST00000265077.3	+	7	2359	c.1794G>A	c.(1792-1794)gaG>gaA	p.E598E	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Silent_p.E550E|VCAN_ENST00000342785.4_Silent_p.E598E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	598	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAGACTTGGAGTCAGTCTCAG	0.418																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(1792-1794)gaG>gaA		versican							124.0	124.0	124.0					5																	82815919		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815919G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1794G>A	5.37:g.82815919G>A						VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.E598E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Silent_p.E550E	p.E598E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2359	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	598			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.1794G>A	CCDS4060.1																																																																																				0.418	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		62	62	0	0	0	1	0	62	62				
SLCO6A1	133482	broad.mit.edu	37	5	101709139	101709139	+	Missense_Mutation	SNP	G	G	A	rs567010617	byFrequency	TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:101709139G>A	ENST00000506729.1	-	13	2248	c.2077C>T	c.(2077-2079)Cgt>Tgt	p.R693C	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R440C|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R440C|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R631C|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R693C			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	693						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTTAGACGACGTTTGTATATG	0.318													G|||	7	0.00139776	0.0	0.0	5008	,	,		12671	0.0		0.0	False		,,,				2504	0.0072					ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2077-2079)Cgt>Tgt		solute carrier organic anion transporter family, member 6A1							147.0	146.0	147.0					5																	101709139		2203	4296	6499	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101709139G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.2077C>T	5.37:g.101709139G>A	ENSP00000421339:p.Arg693Cys					SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R631C|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R693C|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R440C|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R440C	p.R693C			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	13	2248	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	693					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.2077C>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	5.593	0.294275	0.10567	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.49720	0.8;0.8;0.86;0.77;0.77	3.34	-2.53	0.06326	Major facilitator superfamily domain, general substrate transporter (1);	2.931640	0.00963	N	0.003132	T	0.24661	0.0598	N	0.08118	0	0.09310	N	1	B;B;B	0.16166	0.0;0.016;0.0	B;B;B	0.09377	0.0;0.004;0.0	T	0.10086	-1.0645	10	0.49607	T	0.09	.	1.1457	0.01775	0.2675:0.1674:0.3966:0.1686	.	631;440;693	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	C	693;693;631;440;440	ENSP00000421339:R693C;ENSP00000369135:R693C;ENSP00000373671:R631C;ENSP00000421990:R440C;ENSP00000369138:R440C	ENSP00000369135:R693C	R	-	1	0	SLCO6A1	101737038	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.696000	0.00827	-0.606000	0.05746	0.650000	0.86243	CGT		0.318	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		7	35	0	0	0	1	0	7	35				
PPM1G	5496	broad.mit.edu	37	2	27604624	27604624	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:27604624A>G	ENST00000344034.4	-	10	1747	c.1483T>C	c.(1483-1485)Tgt>Cgt	p.C495R	ZNF513_ENST00000323703.6_5'Flank|PPM1G_ENST00000350803.4_Missense_Mutation_p.C495R|ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000407879.1_5'Flank	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	495					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATGTTGTCACACCCTGTACCA	0.547																																						ENST00000344034.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(1483-1485)Tgt>Cgt		protein phosphatase, Mg2+/Mn2+ dependent, 1G							137.0	130.0	133.0					2																	27604624		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27604624A>G	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.1483T>C	2.37:g.27604624A>G	ENSP00000342778:p.Cys495Arg					PPM1G_ENST00000350803.4_Missense_Mutation_p.C495R	p.C495R	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN			10	1747	-	Acute lymphoblastic leukemia(172;0.155)		495						Missense_Mutation	SNP	ENST00000344034.4	37	c.1483T>C	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.687233	0.68157	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.08546	3.08;3.08	5.99	4.82	0.62117	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	M	0.72894	2.215	0.80722	D	1	D;P	0.76494	0.999;0.845	D;P	0.72075	0.976;0.467	T	0.00630	-1.1636	10	0.87932	D	0	-4.2202	10.2912	0.43596	0.8529:0.0:0.0:0.1471	.	296;495	Q59GB2;O15355	.;PPM1G_HUMAN	R	495;495;478;296	ENSP00000342778:C495R;ENSP00000264714:C495R	ENSP00000342778:C495R	C	-	1	0	PPM1G	27458128	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	9.339000	0.96797	1.065000	0.40693	-0.333000	0.08304	TGT		0.547	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		4	89	0	0	0	1	0	4	89				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72663998T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	86	0	0	0	1	0	4	86				
PITX2	5308	broad.mit.edu	37	4	111539631	111539631	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr4:111539631C>T	ENST00000354925.2	-	7	2309	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	PITX2_ENST00000394595.3_Missense_Mutation_p.R133H|PITX2_ENST00000355080.5_Missense_Mutation_p.V156I|PITX2_ENST00000306732.3_Missense_Mutation_p.V209I|PITX2_ENST00000394598.2_Missense_Mutation_p.V202I|PITX2_ENST00000556049.1_5'UTR	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	202					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		AGGGGGTTGACGTTCATAGAG	0.557																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(604-606)Gtc>Atc		paired-like homeodomain 2							89.0	78.0	82.0					4																	111539631		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539631C>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.604G>A	4.37:g.111539631C>T	ENSP00000347004:p.Val202Ile					PITX2_ENST00000394595.3_Missense_Mutation_p.R133H|PITX2_ENST00000355080.5_Missense_Mutation_p.V156I|PITX2_ENST00000394598.2_Missense_Mutation_p.V202I|PITX2_ENST00000306732.3_Missense_Mutation_p.V209I|PITX2_ENST00000556049.1_5'UTR	p.V202I	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	7	2309	-		Hepatocellular(203;0.217)	202					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.604G>A	CCDS3692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.66|14.66	2.600576|2.600576	0.46423|0.46423	.|.	.|.	ENSG00000164093|ENSG00000164093	ENST00000394595|ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000556049	.|D;D;D;D;D;T	.|0.93547	.|-2.91;-3.04;-3.17;-3.04;-3.24;-0.89	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.169408	.|0.51477	.|D	.|0.000087	D|D	0.91838|0.91838	0.7417|0.7417	M|M	0.62088|0.62088	1.915|1.915	0.41819|0.41819	D|D	0.99001|0.99001	.|P;P;P;P	.|0.51653	.|0.686;0.947;0.879;0.701	.|B;B;B;B	.|0.39876	.|0.107;0.312;0.225;0.3	D|D	0.91849|0.91849	0.5490|0.5490	6|10	0.87932|0.39692	D|T	0|0.17	.|.	19.0324|19.0324	0.92963|0.92963	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;156;202;209	.|A8K6C6;Q99697-3;Q99697;Q99697-2	.|.;.;PITX2_HUMAN;.	H|I	133|209;202;156;202;202;126	.|ENSP00000304169:V209I;ENSP00000378097:V202I;ENSP00000347192:V156I;ENSP00000347004:V202I;ENSP00000421454:V202I;ENSP00000450938:V126I	ENSP00000378095:R133H|ENSP00000304169:V209I	R|V	-|-	2|1	0|0	PITX2|PITX2	111759080|111759080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.932000|5.932000	0.70121|0.70121	2.737000|2.737000	0.93849|0.93849	0.563000|0.563000	0.77884|0.77884	CGT|GTC		0.557	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			5	55	0	0	0	1	0	5	55				
USP19	10869	broad.mit.edu	37	3	49154755	49154755	+	Intron	SNP	G	G	A	rs145545570		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:49154755G>A	ENST00000398888.2	-	5	925				USP19_ENST00000398896.1_Intron|USP19_ENST00000453664.1_Missense_Mutation_p.R206W|USP19_ENST00000417901.1_Missense_Mutation_p.R216W|USP19_ENST00000398892.3_Missense_Mutation_p.R153W|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000434032.2_Missense_Mutation_p.R216W|USP19_ENST00000398898.2_Missense_Mutation_p.R153W	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCTGGCACCGCAGCCCCGGC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17193	0.0		0.001	False		,,,				2504	0.0					ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(616-618)Cgg>Tgg		ubiquitin specific peptidase 19																																				SO:0001627	intron_variant	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49154755G>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.606+114C>T	3.37:g.49154755G>A						USP19_ENST00000417901.1_Missense_Mutation_p.R216W|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000434032.2_Missense_Mutation_p.R216W|USP19_ENST00000398888.2_Intron|USP19_ENST00000398892.3_Missense_Mutation_p.R153W|USP19_ENST00000398896.1_Intron|USP19_ENST00000398898.2_Missense_Mutation_p.R153W	p.R206W	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	6	934	-			215					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.616C>T	CCDS43090.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.28	1.593181	0.28357	.	.	ENSG00000172046	ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000434032;ENST00000306026;ENST00000425298;ENST00000479073	T;T;T;T;T;T	0.32753	2.08;2.18;2.15;2.08;2.18;1.44	5.86	3.12	0.35913	.	.	.	.	.	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12013	0.0;0.002;0.001;0.005	B;B;B;B	0.06405	0.0;0.0;0.0;0.002	T	0.18967	-1.0320	9	0.66056	D	0.02	0.0022	1.6126	0.02697	0.234:0.1417:0.4776:0.1466	.	279;216;206;201	A5PKX8;E9PEG8;E7EN22;O94966-2	.;.;.;.	W	153;216;206;153;216;201;201;13	ENSP00000381872:R153W;ENSP00000395260:R216W;ENSP00000400090:R206W;ENSP00000381867:R153W;ENSP00000401197:R216W;ENSP00000303503:R201W	ENSP00000303503:R201W	R	-	1	2	USP19	49129759	0.001000	0.12720	0.384000	0.26145	0.966000	0.64601	0.545000	0.23268	0.829000	0.34733	0.650000	0.86243	CGG		0.632	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		12	20	0	0	0	1	0	12	20				
RHOA	387	broad.mit.edu	37	3	49395674	49395679	+	IGR	DEL	GCCGCC	GCCGCC	-	rs71077799|rs56041243|rs139760138|rs17838762	byFrequency	TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:49395674_49395679delGCCGCC	ENST00000418115.1	-	0	2031				GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_In_Frame_Del_p.11_13AAA>A|GPX1_ENST00000419783.1_In_Frame_Del_p.11_13AAA>A	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.A12_A13delAA(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CACCGACTGGgccgccgccgccgccg	0.694																																						ENST00000419783.1																			1	Deletion - In frame(1)	p.A12_A13delAA(1)	breast(1)	breast(1)|large_intestine(2)|lung(1)	4						c.(31-39)gcc>gc		glutathione peroxidase 1	Glutathione(DB00143)		,	23,168,347		11,0,1,79,10,168					,	-0.2	0.0		dbSNP_123	2	116,720,1030		46,10,14,333,44,486	no	codingComplex,codingComplex	GPX1	NM_201397.1,NM_000581.2	,	57,10,15,412,54,654	A1A1,A1A2,A1R,A2A2,A2R,RR		44.8017,35.5019,42.7205	,	,		139,888,1377				SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395674_49395679delGCCGCC	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395680_49395685delGCCGCC						GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_In_Frame_Del_p.AAA11del	p.AAA11del	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	354_359	-			11					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	In_Frame_Del	DEL	ENST00000418115.1	37	c.33_38delGGCGGC	CCDS2795.1																																																																																				0.694	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		2	4						2	4	---	---	---	---
IQCF3	401067	broad.mit.edu	37	3	51864449	51864449	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:51864449A>G	ENST00000456080.1	+	8	1262	c.97A>G	c.(97-99)Agg>Ggg	p.R33G	IQCF3_ENST00000437810.2_Missense_Mutation_p.R33G|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000446775.1_Missense_Mutation_p.R33G|IQCF3_ENST00000440739.2_Missense_Mutation_p.R33G			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	33										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCACAGAAAAAGGGTGAAGGC	0.557																																						ENST00000456080.1																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(97-99)Agg>Ggg		IQ motif containing F3							58.0	63.0	61.0					3																	51864449		2111	4246	6357	SO:0001583	missense	401067							g.chr3:51864449A>G	AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.97A>G	3.37:g.51864449A>G	ENSP00000415609:p.Arg33Gly					IQCF3_ENST00000446775.1_Missense_Mutation_p.R33G|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000440739.2_Missense_Mutation_p.R33G|IQCF3_ENST00000437810.2_Missense_Mutation_p.R33G	p.R33G			P0C7M6	IQCF3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	8	1262	+			33					B2RUV0	Missense_Mutation	SNP	ENST00000456080.1	37	c.97A>G	CCDS46837.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.816628	0.32145	.	.	ENSG00000229972	ENST00000456080;ENST00000437810;ENST00000446775;ENST00000440739	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	4.57	3.4	0.38934	.	.	.	.	.	T	0.18173	0.0436	N	0.08118	0	0.09310	N	1	P	0.39480	0.675	B	0.39771	0.309	T	0.08534	-1.0717	9	0.19147	T	0.46	.	7.0235	0.24926	0.8966:0.0:0.1034:0.0	.	33	P0C7M6	IQCF3_HUMAN	G	33	ENSP00000415609:R33G;ENSP00000409373:R33G;ENSP00000401767:R33G;ENSP00000402012:R33G	ENSP00000409373:R33G	R	+	1	2	IQCF3	51839489	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	0.475000	0.22164	0.897000	0.36392	0.533000	0.62120	AGG		0.557	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346579.2	NM_001085479		4	98	0	0	0	1	0	4	98				
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs372773235|rs146191724	byFrequency	TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr7:100384030_100384033delTTGT	ENST00000348028.3	+	0	7143				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505														1390	0.277556	0.3434	0.2406	5008	,	,		19485	0.0774		0.4602	False		,,,				2504	0.2331					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100384030_100384033delTTGT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100384038_100384041delTTGT						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7124	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.505	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	7						4	7	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151874148	151874148	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr7:151874148delT	ENST00000262189.6	-	38	8608	c.8390delA	c.(8389-8391)aagfs	p.K2797fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.K2797fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2797				K -> R (in Ref. 1; AAK00583). {ECO:0000305}.	histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K2797fs*26(20)									TTCTTGTTCCTTTTTTTTTGG	0.348																																						ENST00000355193.2																			20	Deletion - Frameshift(20)	p.K2797fs*26(20)	large_intestine(18)|liver(2)								c.(8389-8391)agfs		lysine (K)-specific methyltransferase 2C							135.0	130.0	132.0					7																	151874148		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151874148delT	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8390delA	7.37:g.151874148delT	ENSP00000262189:p.Lys2797fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.K2797fs	p.K2797fs							38	8608	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.8390delA	CCDS5931.1																																																																																				0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	79						9	79	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8484295	8484295	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:8484295delT	ENST00000381196.4	-	27	3780	c.3237delA	c.(3235-3237)aaafs	p.K1079fs	PTPRD_ENST00000540109.1_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.K1066fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.K1057fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000471274.1_5'Flank	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1079	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGAATATGATTTCTCAGGCT	0.448										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3235-3237)aafs		protein tyrosine phosphatase, receptor type, D							114.0	102.0	106.0					9																	8484295		2203	4300	6503	SO:0001589	frameshift_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8484295delT	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3237delA	9.37:g.8484295delT	ENSP00000370593:p.Lys1079fs	TSP Lung(15;0.13)				PTPRD_ENST00000397611.3_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.K1066fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.K1057fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.K658fs	p.K1079fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	27	3780	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1079			Fibronectin type-III 8.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Frame_Shift_Del	DEL	ENST00000381196.4	37	c.3237delA	CCDS43786.1																																																																																				0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			2	4						2	4	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs200787919|rs68192524|rs5003690		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGGAACAAGTGGTGCCTAAGAA	0.416																																						ENST00000532855.1																			2	Insertion - Frameshift(2)	p.N211fs*20(2)	upper_aerodigestive_tract(1)|prostate(1)	autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)			3692,6		1844,4,1						-0.2	0.9		dbSNP_113	54	7905,5		3951,3,1	no	frameshift	MMP12	NM_002426.4		5795,7,2	A1A1,A1R,RR		0.0632,0.1622,0.0948				11597,11						4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738795_102738796insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738795_102738796insT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	725_726	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		4	7						4	7	---	---	---	---
PLPPR3	79948	broad.mit.edu	37	19	815827	815828	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:815827_815828insG	ENST00000520876.3	-	3	177_178	c.99_100insC	c.(97-102)atcgtafs	p.V34fs	LPPR3_ENST00000359894.2_Frame_Shift_Ins_p.V34fs|MIR3187_ENST00000583431.1_RNA	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		34						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										TACAAGGATACGATGGAAGAAG	0.599																																						ENST00000359894.2																			0											c.(97-102)attatcfs																																						SO:0001589	frameshift_variant	0					integral to membrane	phosphatidate phosphatase activity	g.chr19:815827_815828insG																												ENST00000520876.3:c.100dupC	19.37:g.815828_815828dupG	ENSP00000430297:p.Val34fs					LPPR3_ENST00000520876.3_Frame_Shift_Ins_p.I34fs	p.I34fs	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN			3	162_163	-			34					Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Frame_Shift_Ins	INS	ENST00000520876.3	37	c.99_100insC	CCDS58636.1																																																																																				0.599	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			31	22						31	22	---	---	---	---
