#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
LYSMD4	145748	broad.mit.edu	37	15	100269696	100269696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr15:100269696G>A	ENST00000409796.1	-	3	585	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	LYSMD4_ENST00000344791.2_Nonsense_Mutation_p.Q176*|LYSMD4_ENST00000332728.4_Nonsense_Mutation_p.Q175*|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000545021.1_Nonsense_Mutation_p.Q49*	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	175						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			TCAATATCCTGGTCAATCCCC	0.582																																						ENST00000545021.1																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10						c.(145-147)Cag>Tag		LysM, putative peptidoglycan-binding, domain containing 4							82.0	79.0	80.0					15																	100269696		2203	4300	6503	SO:0001587	stop_gained	145748				cell wall macromolecule catabolic process	integral to membrane		g.chr15:100269696G>A	BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.523C>T	15.37:g.100269696G>A	ENSP00000386283:p.Gln175*					LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000409796.1_Nonsense_Mutation_p.Q175*|LYSMD4_ENST00000332728.4_Nonsense_Mutation_p.Q175*|LYSMD4_ENST00000344791.2_Nonsense_Mutation_p.Q176*	p.Q49*			Q5XG99	LYSM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)		4	959	-	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		175					A6NII6|A8K2N1|Q96LY7	Nonsense_Mutation	SNP	ENST00000409796.1	37	c.145C>T		.	.	.	.	.	.	.	.	.	.	G	13.21	2.170030	0.38315	.	.	ENSG00000183060	ENST00000409796;ENST00000344791;ENST00000332728;ENST00000545021	.	.	.	5.13	4.19	0.49359	.	0.447160	0.25813	N	0.028136	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-14.4888	11.1226	0.48300	0.0:0.255:0.6135:0.1314	.	.	.	.	X	175;176;175;49	.	ENSP00000333008:Q175X	Q	-	1	0	LYSMD4	98087219	1.000000	0.71417	0.871000	0.34182	0.289000	0.27227	0.921000	0.28718	1.098000	0.41479	0.655000	0.94253	CAG		0.582	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		35	100	0	0	0	1	0	35	100				
ANKRD30A	91074	broad.mit.edu	37	10	37422959	37422959	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr10:37422959G>T	ENST00000602533.1	+	5	664	c.565G>T	c.(565-567)Gct>Tct	p.A189S	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A189S|RNU6-811P_ENST00000384069.1_RNA|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A189S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	245					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAACATTATGCTGTTACTTG	0.373																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(565-567)Gct>Tct		ankyrin repeat domain 30A							327.0	304.0	311.0					10																	37422959		1895	4115	6010	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37422959G>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.565G>T	10.37:g.37422959G>T	ENSP00000473551:p.Ala189Ser					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A189S|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A189S	p.A189S			Q9BXX3	AN30A_HUMAN			5	664	+			245					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.565G>T		.	.	.	.	.	.	.	.	.	.	.	12.68	2.010742	0.35511	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	D;D	0.89123	-2.47;-2.47	1.43	1.43	0.22495	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.93357	0.7882	M	0.89414	3.03	0.09310	N	1	D	0.56968	0.978	D	0.63793	0.918	D	0.83954	0.0318	9	0.66056	D	0.02	.	6.3406	0.21321	0.0:0.0:1.0:0.0	.	245	Q9BXX3	AN30A_HUMAN	S	189	ENSP00000354432:A189S;ENSP00000363792:A189S	ENSP00000354432:A189S	A	+	1	0	ANKRD30A	37462965	1.000000	0.71417	0.015000	0.15790	0.023000	0.10783	3.612000	0.54142	0.811000	0.34303	0.289000	0.19496	GCT		0.373	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		53	104	1	0	5.82218e-30	1	6.77274e-30	53	104				
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	A	G	rs551614044	byFrequency	TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:39296152A>G	ENST00000345847.4	-	1	587	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	196						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597													a|||	234	0.0467252	0.0726	0.0504	5008	,	,		18042	0.0179		0.0298	False		,,,				2504	0.0562					ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(586-588)cgT>cgC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296152A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.588T>C	17.37:g.39296152A>G							p.R196R	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	587	-			192					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.588T>C	CCDS54125.1																																																																																				0.597	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	14	0	0	0	1	0	3	14				
IGKV1D-43	28891	broad.mit.edu	37	2	90248930	90248930	+	RNA	SNP	G	G	C			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr2:90248930G>C	ENST00000468879.1	+	0	192									immunoglobulin kappa variable 1D-43																		ATGGACATGAGGGTGCCCGCT	0.567																																						ENST00000468879.1																			0																				97.0	103.0	101.0					2																	90248930		1983	4152	6135			0							g.chr2:90248930G>C	X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90248930G>C														0	192	+									RNA	SNP	ENST00000468879.1	37																																																																																						0.567	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323147.2	NG_000833		25	158	0	0	0	1	0	25	158				
GPR18	2841	broad.mit.edu	37	13	99907262	99907262	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr13:99907262C>T	ENST00000340807.3	-	3	1421	c.865G>A	c.(865-867)Gtt>Att	p.V289I	UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.V289I|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.V289I			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	289					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TGTTTTGAAACGATGTAGTAG	0.473																																						ENST00000340807.3																			0				endometrium(2)|large_intestine(2)|lung(6)	10						c.(865-867)Gtt>Att		G protein-coupled receptor 18	Glycine(DB00145)						153.0	135.0	141.0					13																	99907262		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99907262C>T	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"""GPCR / Class A : Orphans"""	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.865G>A	13.37:g.99907262C>T	ENSP00000343428:p.Val289Ile					UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.V289I|GPR18_ENST00000397470.2_Missense_Mutation_p.V289I|UBAC2_ENST00000376440.2_Intron	p.V289I			Q14330	GPR18_HUMAN			3	1421	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		289					Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	37	c.865G>A	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915655	0.92178	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807	T;T;T	0.37235	1.21;1.21;1.21	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.30475	-0.9977	9	.	.	.	-29.1012	20.4388	0.99107	0.0:1.0:0.0:0.0	.	289	Q14330	GPR18_HUMAN	I	289	ENSP00000380613:V289I;ENSP00000380610:V289I;ENSP00000343428:V289I	.	V	-	1	0	GPR18	98705263	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.487000	0.81328	2.836000	0.97738	0.655000	0.94253	GTT		0.473	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			15	63	0	0	0	1	0	15	63				
SRCAP	10847	broad.mit.edu	37	16	30744630	30744630	+	Missense_Mutation	SNP	C	C	T	rs371915992		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr16:30744630C>T	ENST00000262518.4	+	28	6542	c.6157C>T	c.(6157-6159)Cgg>Tgg	p.R2053W	SRCAP_ENST00000395059.2_Missense_Mutation_p.R1991W|SRCAP_ENST00000344771.4_Missense_Mutation_p.R1895W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2053	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGTGCTGTTGCGGCAGCTCAA	0.517																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(6157-6159)Cgg>Tgg		Snf2-related CREBBP activator protein		C	TRP/ARG	0,4394		0,0,2197	98.0	91.0	93.0		6157	1.9	1.0	16		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRCAP	NM_006662.2	101	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2053/3231	30744630	1,12993	2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30744630C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6157C>T	16.37:g.30744630C>T	ENSP00000262518:p.Arg2053Trp					SRCAP_ENST00000395059.2_Missense_Mutation_p.R1991W|SRCAP_ENST00000344771.4_Missense_Mutation_p.R1895W	p.R2053W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		28	6542	+			2053			Helicase C-terminal.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.6157C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	11.18	1.564174	0.27915	0.0	1.16E-4	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.73897	-0.79;-0.79;-0.79	5.25	1.9	0.25705	Helicase, C-terminal (1);	0.000000	0.43747	D	0.000527	D	0.83399	0.5246	M	0.67700	2.07	0.32856	D	0.507365	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87687	0.2551	10	0.87932	D	0	-10.0313	14.1684	0.65493	0.3994:0.6005:0.0:0.0	.	1991;2053	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	W	2053;1991;1895	ENSP00000262518:R2053W;ENSP00000378499:R1991W;ENSP00000343042:R1895W	ENSP00000262518:R2053W	R	+	1	2	SRCAP	30652131	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	3.048000	0.49862	0.700000	0.31782	0.655000	0.94253	CGG		0.517	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		30	86	0	0	0	1	0	30	86				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000355232.3_Splice_Site_p.H157R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	3	24	0	0	0	1	0	3	24				
PEX2	5828	broad.mit.edu	37	8	77895775	77895775	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr8:77895775G>A	ENST00000419564.2	-	4	1104	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	PEX2_ENST00000357039.4_Nonsense_Mutation_p.Q214*|PEX2_ENST00000522527.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000520103.1_Nonsense_Mutation_p.Q214*	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	214					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						TTCAACTTCTGGACATTGATA	0.398																																						ENST00000419564.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						c.(640-642)Cag>Tag		peroxisomal biogenesis factor 2							100.0	98.0	99.0					8																	77895775		2203	4300	6503	SO:0001587	stop_gained	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77895775G>A	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.640C>T	8.37:g.77895775G>A	ENSP00000400984:p.Gln214*					PEX2_ENST00000520103.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000522527.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000357039.4_Nonsense_Mutation_p.Q214*	p.Q214*	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN			4	1104	-			214					Q567S6|Q9BW41	Nonsense_Mutation	SNP	ENST00000419564.2	37	c.640C>T	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	G	38	7.052135	0.98029	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527	.	.	.	5.24	5.24	0.73138	.	0.118924	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-14.7945	19.0128	0.92881	0.0:0.0:1.0:0.0	.	.	.	.	X	214	.	ENSP00000349543:Q214X	Q	-	1	0	PEX2	78058330	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.638000	0.54332	2.733000	0.93635	0.557000	0.71058	CAG		0.398	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		13	96	0	0	0	1	0	13	96				
DLL3	10683	broad.mit.edu	37	19	39995920	39995920	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr19:39995920C>T	ENST00000205143.4	+	6	929	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	DLL3_ENST00000356433.5_Missense_Mutation_p.R308W	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	308	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTACGGGCTGCGGTGTGAGGT	0.587																																						ENST00000205143.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19						c.(922-924)Cgg>Tgg		delta-like 3 (Drosophila)							126.0	105.0	112.0					19																	39995920		2203	4300	6503	SO:0001583	missense	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39995920C>T	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.922C>T	19.37:g.39995920C>T	ENSP00000205143:p.Arg308Trp					DLL3_ENST00000356433.5_Missense_Mutation_p.R308W	p.R308W	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		6	929	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		308			EGF-like 2.		E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.922C>T	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047674	0.55110	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.91792	-2.91;-2.8	5.23	4.13	0.48395	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.39210	N	0.001436	D	0.91922	0.7442	L	0.55743	1.74	0.42328	D	0.992289	D;D;D	0.65815	0.995;0.995;0.984	P;P;P	0.54210	0.745;0.636;0.636	D	0.90824	0.4711	9	.	.	.	.	10.745	0.46175	0.3531:0.6469:0.0:0.0	.	308;308;308	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	W	308	ENSP00000348810:R308W;ENSP00000205143:R308W	.	R	+	1	2	DLL3	44687760	1.000000	0.71417	0.125000	0.21846	0.047000	0.14425	3.302000	0.51849	2.444000	0.82710	0.561000	0.74099	CGG		0.587	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			65	94	0	0	0	1	0	65	94				
AGPAT4	56895	broad.mit.edu	37	6	161560578	161560578	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr6:161560578C>G	ENST00000320285.4	-	8	1130	c.918G>C	c.(916-918)tgG>tgC	p.W306C	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.W144C	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	306					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TCACGAGGGTCCAGGGCCGCC	0.627																																						ENST00000320285.4																			0				endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(916-918)tgG>tgC		1-acylglycerol-3-phosphate O-acyltransferase 4							64.0	74.0	71.0					6																	161560578		2203	4300	6503	SO:0001583	missense	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161560578C>G	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.918G>C	6.37:g.161560578C>G	ENSP00000314036:p.Trp306Cys					AGPAT4_ENST00000457520.2_Missense_Mutation_p.W144C|AGPAT4_ENST00000366911.5_3'UTR	p.W306C	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	8	1130	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	306					B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	c.918G>C	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	c	17.35	3.367181	0.61513	.	.	ENSG00000026652	ENST00000320285;ENST00000457520	T	0.31247	1.5	5.27	5.27	0.74061	.	0.059595	0.64402	D	0.000001	T	0.40145	0.1105	L	0.45352	1.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.987	T	0.07712	-1.0758	10	0.36615	T	0.2	-38.0938	18.9082	0.92471	0.0:1.0:0.0:0.0	.	144;306	B4DSF9;Q9NRZ5	.;PLCD_HUMAN	C	306;144	ENSP00000314036:W306C	ENSP00000314036:W306C	W	-	3	0	AGPAT4	161480568	1.000000	0.71417	0.999000	0.59377	0.467000	0.32768	7.494000	0.81503	2.453000	0.82957	0.552000	0.68991	TGG		0.627	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		24	92	0	0	0	1	0	24	92				
OBSCN	84033	broad.mit.edu	37	1	228433234	228433234	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:228433234A>G	ENST00000422127.1	+	12	3646	c.3602A>G	c.(3601-3603)aAg>aGg	p.K1201R	OBSCN_ENST00000284548.11_Missense_Mutation_p.K1201R|OBSCN_ENST00000570156.2_Missense_Mutation_p.K1293R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1201	Ig-like 12.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGTGGTACAAGGACGGGAAG	0.597																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3877-3879)aAg>aGg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							95.0	93.0	94.0					1																	228433234		2084	4208	6292	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228433234A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3602A>G	1.37:g.228433234A>G	ENSP00000409493:p.Lys1201Arg					OBSCN_ENST00000284548.11_Missense_Mutation_p.K1201R|OBSCN_ENST00000422127.1_Missense_Mutation_p.K1201R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.K1293R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			13	3952	+		Prostate(94;0.0405)	273			Ig-like 13.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3878A>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	7.514	0.655335	0.14580	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.06608	3.28;3.28	4.63	4.63	0.57726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.09024	0.0223	L	0.56280	1.765	0.80722	D	1	B;P	0.35821	0.4;0.523	B;B	0.36504	0.113;0.226	T	0.19910	-1.0291	10	0.32370	T	0.25	.	14.0977	0.65034	1.0:0.0:0.0:0.0	.	1201;1201	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	1201	ENSP00000284548:K1201R;ENSP00000409493:K1201R	ENSP00000284548:K1201R	K	+	2	0	OBSCN	226499857	1.000000	0.71417	0.994000	0.49952	0.045000	0.14185	6.714000	0.74692	1.741000	0.51731	0.254000	0.18369	AAG		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		36	99	0	0	0	1	0	36	99				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		4	30	0	0	0	1	0	4	30				
ASTL	431705	broad.mit.edu	37	2	96795571	96795571	+	Missense_Mutation	SNP	C	C	T	rs145550482		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr2:96795571C>T	ENST00000342380.2	-	8	865	c.866G>A	c.(865-867)cGt>cAt	p.R289H		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						ACCTCTCCCACGGGGCCTGGG	0.622																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(865-867)cGt>cAt		astacin-like metallo-endopeptidase (M12 family)							35.0	41.0	39.0					2																	96795571		2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96795571C>T	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.866G>A	2.37:g.96795571C>T	ENSP00000343674:p.Arg289His						p.R289H	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			8	865	-			289						Missense_Mutation	SNP	ENST00000342380.2	37	c.866G>A	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.463849	0.01062	.	.	ENSG00000188886	ENST00000342380	T	0.64438	-0.1	3.62	-7.23	0.01480	.	2.205680	0.01915	N	0.040102	T	0.27098	0.0664	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35674	-0.9779	10	0.06757	T	0.87	7.4048	2.766	0.05320	0.1208:0.1831:0.1407:0.5553	.	289	Q6HA08	ASTL_HUMAN	H	289	ENSP00000343674:R289H	ENSP00000343674:R289H	R	-	2	0	ASTL	96159298	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.163000	0.03138	-2.009000	0.00954	-1.058000	0.02302	CGT		0.622	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			22	93	0	0	0	1	0	22	93				
RFXAP	5994	broad.mit.edu	37	13	37401782	37401782	+	Silent	SNP	G	G	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr13:37401782G>A	ENST00000255476.2	+	3	845	c.711G>A	c.(709-711)tcG>tcA	p.S237S	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	237	C-terminal domain.				positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		TTTCTAAGTCGTTACTAAGAA	0.323																																						ENST00000255476.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(709-711)tcG>tcA		regulatory factor X-associated protein							68.0	65.0	66.0					13																	37401782		2203	4300	6503	SO:0001819	synonymous_variant	5994					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr13:37401782G>A	Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.711G>A	13.37:g.37401782G>A						RFXAP_ENST00000472888.1_3'UTR	p.S237S	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)	3	845	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	237			C-terminal domain.		B2R9T8|Q5VZM6|Q8TC40	Silent	SNP	ENST00000255476.2	37	c.711G>A	CCDS9359.1																																																																																				0.323	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538		9	36	0	0	0	1	0	9	36				
TLDC1	57707	broad.mit.edu	37	16	84516283	84516283	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr16:84516283G>A	ENST00000343629.6	-	6	1174	c.992C>T	c.(991-993)cCc>cTc	p.P331L	TLDC1_ENST00000535580.1_Missense_Mutation_p.P304L	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	331	TLD.					lysosomal membrane (GO:0005765)											AGCCATGCTGGGGCAGATGGA	0.562																																						ENST00000343629.6																			0											c.(991-993)cCc>cTc		TBC/LysM-associated domain containing 1							150.0	113.0	126.0					16																	84516283		2200	4300	6500	SO:0001583	missense	57707							g.chr16:84516283G>A	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.992C>T	16.37:g.84516283G>A	ENSP00000343635:p.Pro331Leu					TLDC1_ENST00000535580.1_Missense_Mutation_p.P304L	p.P331L	NM_020947.3	NP_065998.3					6	1174	-								Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.992C>T	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619070	0.66787	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.55930	0.49;0.49	5.26	5.26	0.73747	TLDc (2);	0.000000	0.85682	D	0.000000	T	0.81422	0.4819	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.87276	0.2289	10	0.87932	D	0	-42.9207	17.8655	0.88794	0.0:0.0:1.0:0.0	.	304;331	F5GWS3;Q6P9B6	.;K1609_HUMAN	L	331;304	ENSP00000343635:P331L;ENSP00000441997:P304L	ENSP00000343635:P331L	P	-	2	0	KIAA1609	83073784	1.000000	0.71417	0.742000	0.31022	0.054000	0.15201	9.169000	0.94788	2.458000	0.83093	0.655000	0.94253	CCC		0.562	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		3	43	0	0	0	1	0	3	43				
PPAP2A	8611	broad.mit.edu	37	5	54771251	54771251	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr5:54771251G>T	ENST00000307259.8	-	2	506	c.86C>A	c.(85-87)tCa>tAa	p.S29*	PPAP2A_ENST00000515132.1_Intron|PPAP2A_ENST00000264775.5_Intron	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	29					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GGTATGCCTTGAAGTAAGAAT	0.348																																						ENST00000307259.8																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9						c.(85-87)tCa>tAa		phosphatidic acid phosphatase type 2A							106.0	98.0	101.0					5																	54771251		2203	4300	6503	SO:0001587	stop_gained	8611				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr5:54771251G>T	AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.86C>A	5.37:g.54771251G>T	ENSP00000302229:p.Ser29*					PPAP2A_ENST00000264775.5_Intron|PPAP2A_ENST00000515132.1_Intron	p.S29*	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN			2	506	-		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)	29					B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Nonsense_Mutation	SNP	ENST00000307259.8	37	c.86C>A	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	G	38	7.041174	0.98021	.	.	ENSG00000067113	ENST00000307259	.	.	.	5.6	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	10.7981	0.46472	0.1448:0.0:0.8552:0.0	.	.	.	.	X	29	.	ENSP00000302229:S29X	S	-	2	0	PPAP2A	54807008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.571000	0.45990	1.370000	0.46153	0.557000	0.71058	TCA		0.348	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1			3	18	1	0	0.115264	1	0.115264	3	18				
SLC45A1	50651	broad.mit.edu	37	1	8390702	8390702	+	Silent	SNP	C	C	T	rs368992612		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:8390702C>T	ENST00000471889.1	+	5	1534	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Silent_p.G417G|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000289877.8_Silent_p.G383G			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	383					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTCACGGGCGGCCACGACA	0.662																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1147-1149)ggC>ggT		solute carrier family 45, member 1		C		1,4405	2.1+/-5.4	0,1,2202	41.0	42.0	41.0		1149	-9.3	0.2	1		41	0,8600		0,0,4300	no	coding-synonymous	SLC45A1	NM_001080397.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		383/749	8390702	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390702C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1149C>T	1.37:g.8390702C>T						SLC45A1_ENST00000377479.2_Silent_p.G417G|SLC45A1_ENST00000289877.8_Silent_p.G383G|SLC45A1_ENST00000481265.1_3'UTR	p.G383G			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	1534	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	383					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.1149C>T	CCDS30577.1																																																																																				0.662	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			33	46	0	0	0	1	0	33	46				
SYNE1	23345	broad.mit.edu	37	6	152651002	152651002	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr6:152651002T>G	ENST00000367255.5	-	78	15419	c.14818A>C	c.(14818-14820)Atc>Ctc	p.I4940L	SYNE1_ENST00000265368.4_Missense_Mutation_p.I4940L|SYNE1_ENST00000423061.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000448038.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000341594.5_Missense_Mutation_p.I4687L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4940					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATTCATGATTCTCAAGCTG	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(14818-14820)Atc>Ctc		spectrin repeat containing, nuclear envelope 1							274.0	264.0	267.0					6																	152651002		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651002T>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14818A>C	6.37:g.152651002T>G	ENSP00000356224:p.Ile4940Leu	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.I4940L|SYNE1_ENST00000423061.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000448038.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000341594.5_Missense_Mutation_p.I4687L	p.I4940L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15419	-		Ovarian(120;0.0955)	4940					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.14818A>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	11.31	1.600520	0.28534	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	6.03	6.03	0.97812	.	0.086844	0.48286	D	0.000181	T	0.35653	0.0939	L	0.52573	1.65	0.80722	D	1	P;P;P;P	0.47677	0.899;0.651;0.651;0.763	P;B;B;B	0.48270	0.572;0.163;0.163;0.309	T	0.14783	-1.0460	10	0.23891	T	0.37	.	12.3722	0.55261	0.0:0.0669:0.0:0.9331	.	4940;4940;4940;4869	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	L	4940;4869;4940;4869;4687	ENSP00000356224:I4940L;ENSP00000396024:I4869L;ENSP00000265368:I4940L;ENSP00000390975:I4869L;ENSP00000341887:I4687L	ENSP00000265368:I4940L	I	-	1	0	SYNE1	152692695	1.000000	0.71417	0.872000	0.34217	0.894000	0.52154	5.077000	0.64419	2.308000	0.77769	0.533000	0.62120	ATC		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		68	137	0	0	0	1	0	68	137				
MYH10	4628	broad.mit.edu	37	17	8480573	8480573	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:8480573C>T	ENST00000269243.4	-	5	752	c.614G>A	c.(613-615)aGa>aAa	p.R205K	MYH10_ENST00000360416.3_Missense_Mutation_p.R205K|MYH10_ENST00000396239.1_Missense_Mutation_p.R205K|MYH10_ENST00000379980.4_Missense_Mutation_p.R205K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	205	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATGGTCCTTTCTTCCTTTATG	0.353																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(613-615)aGa>aAa		myosin, heavy chain 10, non-muscle							107.0	109.0	108.0					17																	8480573		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8480573C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.614G>A	17.37:g.8480573C>T	ENSP00000269243:p.Arg205Lys					MYH10_ENST00000396239.1_Missense_Mutation_p.R205K|MYH10_ENST00000379980.4_Missense_Mutation_p.R205K|MYH10_ENST00000269243.4_Missense_Mutation_p.R205K	p.R205K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			5	752	-			205			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.614G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	9.032	0.987537	0.18966	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.95035	-0.54;-0.53;-3.59;-0.53	5.01	5.01	0.66863	Myosin head, motor domain (2);	0.047074	0.85682	D	0.000000	T	0.80439	0.4623	N	0.01267	-0.92	0.44477	D	0.997418	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.004	T	0.77264	-0.2652	10	0.02654	T	1	.	11.9081	0.52723	0.0:0.9194:0.0:0.0806	.	205;205;205	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	205	ENSP00000269243:R205K;ENSP00000353590:R205K;ENSP00000379539:R205K;ENSP00000369315:R205K	ENSP00000269243:R205K	R	-	2	0	MYH10	8421298	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.656000	0.67988	2.754000	0.94517	0.655000	0.94253	AGA		0.353	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			30	23	0	0	0	1	0	30	23				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	39	0	0	0	1	0	3	39				
MMS22L	253714	broad.mit.edu	37	6	97681831	97681831	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr6:97681831C>T	ENST00000275053.4	-	12	1473	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q	MMS22L_ENST00000369251.2_Intron	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	403					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AAGATACATTCGTAATTGTTC	0.343																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1207-1209)cGa>cAa		MMS22-like, DNA repair protein							94.0	97.0	96.0					6																	97681831		2203	4298	6501	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97681831C>T		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1208G>A	6.37:g.97681831C>T	ENSP00000275053:p.Arg403Gln					MMS22L_ENST00000369251.2_Intron	p.R403Q	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			12	1473	-			403					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.1208G>A	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	36	5.682796	0.96774	.	.	ENSG00000146263	ENST00000275053;ENST00000510018	T;T	0.53640	0.61;0.61	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.67118	-0.5751	10	0.62326	D	0.03	-0.0085	19.5153	0.95160	0.0:1.0:0.0:0.0	.	403	Q6ZRQ5	MMS22_HUMAN	Q	403;291	ENSP00000275053:R403Q;ENSP00000427288:R291Q	ENSP00000275053:R403Q	R	-	2	0	MMS22L	97788552	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.695000	0.74593	2.686000	0.91538	0.655000	0.94253	CGA		0.343	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		14	25	0	0	0	1	0	14	25				
TCEB3	6924	broad.mit.edu	37	1	24075567	24075567	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:24075567G>A	ENST00000418390.2	+	2	481	c.210G>A	c.(208-210)gcG>gcA	p.A70A	TCEB3_ENST00000609199.1_Splice_Site_p.A44A|TCEB3_ENST00000487554.1_3'UTR	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	70	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|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;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACATTCTTGCGGTAAGAACTG	0.348																																						ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.e2+1		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							79.0	80.0	80.0					1																	24075567		2203	4299	6502	SO:0001630	splice_region_variant	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24075567G>A	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.210+1G>A	1.37:g.24075567G>A						TCEB3_ENST00000487554.1_3'UTR	p.A70_splice	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	2	481	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	70			TFIIS N-terminal.		B2R7Q8|Q8IXH1	Splice_Site	SNP	ENST00000418390.2	37	c.210_splice	CCDS239.2																																																																																				0.348	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198	Silent	12	34	0	0	0	1	0	12	34				
NOTCH4	4855	broad.mit.edu	37	6	32180925	32180925	+	Missense_Mutation	SNP	T	T	C	rs34199829		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr6:32180925T>C	ENST00000375023.3	-	15	2563	c.2425A>G	c.(2425-2427)Agc>Ggc	p.S809G	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	809	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.		S -> I (in dbSNP:rs3132961).		cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCTGCACAGCTGGGGCGGAGC	0.637																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(2425-2427)Agc>Ggc		notch 4							46.0	51.0	49.0					6																	32180925		2203	4300	6503	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32180925T>C		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2425A>G	6.37:g.32180925T>C	ENSP00000364163:p.Ser809Gly					NOTCH4_ENST00000465528.1_5'UTR	p.S809G	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			15	2563	-			809		S -> I (in dbSNP:rs3132961).	EGF-like 21.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.2425A>G	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656105	0.47467	.	.	ENSG00000204301	ENST00000375023	T	0.61274	0.12	4.16	4.16	0.48862	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.128560	0.35585	N	0.003117	T	0.20047	0.0482	N	0.17312	0.475	0.80722	D	1	P	0.44006	0.824	B	0.30179	0.112	T	0.24905	-1.0147	10	0.72032	D	0.01	.	9.7966	0.40740	0.0:0.0:0.0:1.0	.	809	Q99466	NOTC4_HUMAN	G	809	ENSP00000364163:S809G	ENSP00000364163:S809G	S	-	1	0	NOTCH4	32288903	0.999000	0.42202	0.998000	0.56505	0.917000	0.54804	1.688000	0.37690	1.902000	0.55061	0.397000	0.26171	AGC		0.637	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			4	64	0	0	0	1	0	4	64				
LINGO1	84894	broad.mit.edu	37	15	77908223	77908223	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr15:77908223G>A	ENST00000355300.6	-	2	200	c.26C>T	c.(25-27)gCg>gTg	p.A9V	LINGO1_ENST00000561030.1_Missense_Mutation_p.A3V	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	9					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CACGCCCCCCGCCAGCATCCT	0.692																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(25-27)gCg>gTg		leucine rich repeat and Ig domain containing 1							6.0	9.0	8.0					15																	77908223		2012	4109	6121	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77908223G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.26C>T	15.37:g.77908223G>A	ENSP00000347451:p.Ala9Val					LINGO1_ENST00000561030.1_Missense_Mutation_p.A3V	p.A9V	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	200	-			9					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.26C>T	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	g	10.12	1.264156	0.23136	.	.	ENSG00000169783	ENST00000355300	T	0.54675	0.56	5.62	4.65	0.58169	.	0.174211	0.50627	D	0.000111	T	0.38348	0.1037	N	0.19112	0.55	0.49483	D	0.999794	B	0.24368	0.102	B	0.15484	0.013	T	0.34279	-0.9835	10	0.72032	D	0.01	.	14.3725	0.66849	0.0:0.1474:0.8526:0.0	.	9	Q96FE5	LIGO1_HUMAN	V	9	ENSP00000347451:A9V	ENSP00000347451:A9V	A	-	2	0	LINGO1	75695278	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.013000	0.64023	2.655000	0.90218	0.556000	0.70494	GCG		0.692	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		6	7	0	0	0	1	0	6	7				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		8	59	0	0	0	1	0	8	59				
ATF4P4	100127952	broad.mit.edu	37	11	113661436	113661436	+	RNA	SNP	G	G	C			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr11:113661436G>C	ENST00000393544.2	+	0	1484									activating transcription factor 4 pseudogene 4																		GACTAATAAGGAGACCCCCAG	0.502																																						ENST00000393544.2																			0																																																			0							g.chr11:113661436G>C			11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113661436G>C														0	1484	+									RNA	SNP	ENST00000393544.2	37																																																																																						0.502	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		19	210	0	0	0	1	0	19	210				
SESN2	83667	broad.mit.edu	37	1	28599228	28599228	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:28599228G>T	ENST00000253063.3	+	5	995	c.674G>T	c.(673-675)aGc>aTc	p.S225I		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	225					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGATGGCAGCCCTGCCCCC	0.632																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(673-675)aGc>aTc		sestrin 2							79.0	70.0	73.0					1																	28599228		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28599228G>T	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.674G>T	1.37:g.28599228G>T	ENSP00000253063:p.Ser225Ile						p.S225I	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	5	995	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	225					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.674G>T	CCDS321.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663813	0.47572	.	.	ENSG00000130766	ENST00000253063	T	0.25749	1.78	5.46	3.32	0.38043	.	0.207877	0.52532	D	0.000070	T	0.17874	0.0429	L	0.35854	1.095	0.35927	D	0.832271	B	0.29862	0.259	B	0.32022	0.139	T	0.15009	-1.0452	10	0.54805	T	0.06	-31.5422	4.7948	0.13267	0.088:0.232:0.5456:0.1345	.	225	P58004	SESN2_HUMAN	I	225	ENSP00000253063:S225I	ENSP00000253063:S225I	S	+	2	0	SESN2	28471815	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.862000	0.56009	2.568000	0.86640	0.591000	0.81541	AGC		0.632	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			6	90	1	0	2.7689e-08	1	3.09465e-08	6	90				
ATF4P4	100127952	broad.mit.edu	37	11	113661475	113661475	+	RNA	SNP	G	G	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr11:113661475G>A	ENST00000393544.2	+	0	1523									activating transcription factor 4 pseudogene 4																		CATCTCCCAGGAAGTTTAACA	0.527																																						ENST00000393544.2																			0																																																			0							g.chr11:113661475G>A			11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113661475G>A														0	1523	+									RNA	SNP	ENST00000393544.2	37																																																																																						0.527	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		10	164	0	0	0	1	0	10	164				
FAM83G	644815	broad.mit.edu	37	17	18875037	18875037	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:18875037C>A	ENST00000388995.6	-	6	2330	c.2107G>T	c.(2107-2109)Gtc>Ttc	p.V703F	FAM83G_ENST00000585154.2_Missense_Mutation_p.V703F|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V703F|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	703					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GAGGCAGGGACCCTGTGATGA	0.622																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2107-2109)Gtc>Ttc		family with sequence similarity 83, member G							42.0	49.0	47.0					17																	18875037		2016	4167	6183	SO:0001583	missense	644815							g.chr17:18875037C>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2107G>T	17.37:g.18875037C>A	ENSP00000373647:p.Val703Phe					SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V703F|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V703F	p.V703F			A6ND36	FA83G_HUMAN			6	2330	-			703					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2107G>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	5.780	0.328333	0.10956	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.11604	2.76;2.76	5.14	-1.09	0.09904	.	5.603940	0.00520	N	0.000194	T	0.06690	0.0171	N	0.22421	0.69	0.09310	N	1	B	0.32653	0.379	B	0.27796	0.083	T	0.21690	-1.0238	10	0.56958	D	0.05	-0.6332	0.3915	0.00411	0.2309:0.2694:0.2509:0.2487	.	703	A6ND36	FA83G_HUMAN	F	703	ENSP00000373647:V703F;ENSP00000343279:V703F	ENSP00000343279:V703F	V	-	1	0	FAM83G	18815762	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-0.108000	0.10857	-0.328000	0.08539	0.561000	0.74099	GTC		0.622	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			27	53	1	0	1.74807e-11	1	1.9928e-11	27	53				
MTTP	4547	broad.mit.edu	37	4	100543853	100543853	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr4:100543853G>A	ENST00000265517.5	+	18	2736	c.2533G>A	c.(2533-2535)Gaa>Aaa	p.E845K	MTTP_ENST00000457717.1_Missense_Mutation_p.E845K|MTTP_ENST00000511045.1_Missense_Mutation_p.E872K|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	845					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GAAAAAGTACGAAAGGCTGTC	0.418																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2533-2535)Gaa>Aaa		microsomal triglyceride transfer protein	Hesperetin(DB01094)						120.0	119.0	119.0					4																	100543853		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100543853G>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2533G>A	4.37:g.100543853G>A	ENSP00000265517:p.Glu845Lys					RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.E845K|MTTP_ENST00000511045.1_Missense_Mutation_p.E872K	p.E845K	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	19	2789	+			845					A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.2533G>A	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007540	0.93287	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.65916	-0.18;-0.16;-0.16	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.80221	0.4583	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.938;0.994	T	0.79890	-0.1612	10	0.87932	D	0	-28.6928	20.4702	0.99162	0.0:0.0:1.0:0.0	.	872;845	E9PBP6;P55157	.;MTP_HUMAN	K	872;845;845	ENSP00000427679:E872K;ENSP00000400821:E845K;ENSP00000265517:E845K	ENSP00000265517:E845K	E	+	1	0	MTTP	100762876	1.000000	0.71417	0.995000	0.50966	0.526000	0.34562	9.026000	0.93700	2.937000	0.99478	0.650000	0.86243	GAA		0.418	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			36	48	0	0	0	1	0	36	48				
CHD3	1107	broad.mit.edu	37	17	7811746	7811746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:7811746G>T	ENST00000330494.7	+	35	5329	c.5179G>T	c.(5179-5181)Gaa>Taa	p.E1727*	CHD3_ENST00000358181.4_Nonsense_Mutation_p.E1693*|CHD3_ENST00000380358.4_Nonsense_Mutation_p.E1786*|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1727	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCAGAATGAGGAACGGGCAGC	0.488																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(5356-5358)Gaa>Taa		chromodomain helicase DNA binding protein 3							83.0	73.0	76.0					17																	7811746		2203	4300	6503	SO:0001587	stop_gained	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7811746G>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5179G>T	17.37:g.7811746G>T	ENSP00000332628:p.Glu1727*					CHD3_ENST00000330494.7_Nonsense_Mutation_p.E1727*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.E1693*	p.E1786*	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			35	5357	+		Prostate(122;0.202)	1727			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Nonsense_Mutation	SNP	ENST00000330494.7	37	c.5356G>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	45	11.505894	0.99569	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235;ENST00000449744	.	.	.	4.45	4.45	0.53987	.	0.000000	0.47455	D	0.000239	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.8558	17.2758	0.87114	0.0:0.0:1.0:0.0	.	.	.	.	X	1786;1693;1727;55;19	.	ENSP00000332628:E1727X	E	+	1	0	CHD3	7752471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.311000	0.77944	0.561000	0.74099	GAA		0.488	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		4	8	1	0	0.00448238	1	0.0047314	4	8				
TNFRSF13B	23495	broad.mit.edu	37	17	16843654	16843654	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:16843654G>A	ENST00000261652.2	-	4	629	c.617C>T	c.(616-618)gCc>gTc	p.A206V	TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.A160V|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.A160V|TNFRSF13B_ENST00000579315.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	206					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GGAAGACTTGGCCGGACTTTG	0.657									IgA Deficiency, Selective																													ENST00000437538.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						c.(478-480)gCc>gTc		tumor necrosis factor receptor superfamily, member 13B							99.0	105.0	103.0					17																	16843654		2203	4300	6503	SO:0001583	missense	23495	IgA Deficiency, Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16843654G>A	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.617C>T	17.37:g.16843654G>A	ENSP00000261652:p.Ala206Val					TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.A206V|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.A160V	p.A160V			O14836	TR13B_HUMAN			3	487	-			206					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	c.479C>T	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	g	8.687	0.906560	0.17833	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.93547	-3.24;-3.23	3.03	0.465	0.16711	.	0.660669	0.13021	N	0.420076	D	0.89076	0.6612	M	0.68952	2.095	0.09310	N	1	P;P	0.46784	0.884;0.816	B;B	0.37780	0.258;0.132	T	0.81826	-0.0754	10	0.62326	D	0.03	-6.1281	4.5939	0.12320	0.0:0.2504:0.4943:0.2553	.	160;206	O14836-2;O14836	.;TR13B_HUMAN	V	160;206	ENSP00000413453:A160V;ENSP00000261652:A206V	ENSP00000261652:A206V	A	-	2	0	TNFRSF13B	16784379	0.020000	0.18652	0.025000	0.17156	0.211000	0.24417	0.710000	0.25748	0.495000	0.27882	0.558000	0.71614	GCC		0.657	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			57	106	0	0	0	1	0	57	106				
DCAF12L1	139170	broad.mit.edu	37	X	125685925	125685925	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chrX:125685925C>G	ENST00000371126.1	-	1	909	c.667G>C	c.(667-669)Gac>Cac	p.D223H		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	223										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTGTCCGGGTCCATCCGCCAC	0.657																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(667-669)Gac>Cac		DDB1 and CUL4 associated factor 12-like 1							34.0	35.0	35.0					X																	125685925		2203	4297	6500	SO:0001583	missense	139170							g.chrX:125685925C>G	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.667G>C	X.37:g.125685925C>G	ENSP00000360167:p.Asp223His						p.D223H	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	909	-			223					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.667G>C	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275428	0.23307	.	.	ENSG00000198889	ENST00000371126	T	0.64618	-0.11	3.89	1.12	0.20585	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.236986	0.21833	N	0.068442	T	0.69133	0.3077	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57142	-0.7862	10	0.56958	D	0.05	.	3.4259	0.07410	0.0:0.4587:0.1958:0.3455	.	223	Q5VU92	DC121_HUMAN	H	223	ENSP00000360167:D223H	ENSP00000360167:D223H	D	-	1	0	DCAF12L1	125513606	0.946000	0.32159	0.000000	0.03702	0.217000	0.24651	1.513000	0.35823	0.109000	0.17891	-0.563000	0.04171	GAC		0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		6	40	0	0	0	1	0	6	40				
PCDHB3	56132	broad.mit.edu	37	5	140481893	140481893	+	Missense_Mutation	SNP	G	G	A	rs138158842		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr5:140481893G>A	ENST00000231130.2	+	1	1660	c.1660G>A	c.(1660-1662)Gcc>Acc	p.A554T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A554T(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.711																																						ENST00000231130.2																			1	Substitution - Missense(1)	p.A554T(1)	lung(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1660-1662)Gcc>Acc				G	THR/ALA	0,4300		0,0,2150	17.0	19.0	18.0		1660	3.3	1.0	5	dbSNP_134	18	1,8433		0,1,4216	no	missense	PCDHB3	NM_018937.2	58	0,1,6366	AA,AG,GG		0.0119,0.0,0.0079	benign	554/797	140481893	1,12733	2150	4217	6367	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481893G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1660G>A	5.37:g.140481893G>A	ENSP00000231130:p.Ala554Thr						p.A554T	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1660	+			554			Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1660G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799517	0.31869	0.0	1.19E-4	ENSG00000113205	ENST00000231130	T	0.03181	4.02	4.24	3.35	0.38373	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02688	0.0081	N	0.13003	0.285	0.23076	N	0.998338	B	0.22080	0.064	B	0.15870	0.014	T	0.38628	-0.9652	9	0.42905	T	0.14	.	8.5429	0.33404	0.0896:0.1558:0.7546:0.0	.	554	Q9Y5E6	PCDB3_HUMAN	T	554	ENSP00000231130:A554T	ENSP00000231130:A554T	A	+	1	0	PCDHB3	140462077	0.000000	0.05858	0.992000	0.48379	0.775000	0.43874	0.196000	0.17176	2.078000	0.62432	0.556000	0.70494	GCC		0.711	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		20	105	0	0	0	1	0	20	105				
TPTE	7179	broad.mit.edu	37	21	11012916	11012916	+	Splice_Site	SNP	C	C	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr21:11012916C>A	ENST00000415664.2	-	8	1004		c.e8+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAAATTTTACCTAGCTTTTT	0.299																																						ENST00000415664.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e8+1		transmembrane phosphatase with tensin homology																																				SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:11012916C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.2332+1G>T	21.37:g.11012916C>A										P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	8	1004	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000415664.2	37																																																																																						0.299	TPTE-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000340030.1		Intron	8	17	1	0	0.0381472	1	0.0388284	8	17				
TCF20	6942	broad.mit.edu	37	22	42608481	42608481	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr22:42608481T>A	ENST00000359486.3	-	1	2967	c.2831A>T	c.(2830-2832)aAc>aTc	p.N944I	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.N944I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	944					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AGATTTCTTGTTGTTGAAACT	0.493																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(2830-2832)aAc>aTc		transcription factor 20 (AR1)							86.0	82.0	83.0					22																	42608481		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42608481T>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2831A>T	22.37:g.42608481T>A	ENSP00000352463:p.Asn944Ile					TCF20_ENST00000335626.4_Missense_Mutation_p.N944I	p.N944I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	2967	-			944					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.2831A>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.843693	0.32606	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59364	0.27;0.27	5.43	2.08	0.27032	.	0.391477	0.26654	N	0.023189	T	0.38692	0.1050	N	0.14661	0.345	0.80722	D	1	P;P	0.46220	0.874;0.8	B;B	0.42422	0.387;0.216	T	0.25293	-1.0136	10	0.59425	D	0.04	-12.9445	8.7195	0.34432	0.0:0.3062:0.0:0.6938	.	944;944	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	I	944	ENSP00000352463:N944I;ENSP00000335561:N944I	ENSP00000335561:N944I	N	-	2	0	TCF20	40938425	0.997000	0.39634	1.000000	0.80357	0.885000	0.51271	0.193000	0.17116	0.519000	0.28406	-0.315000	0.08773	AAC		0.493	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		24	83	0	0	0	1	0	24	83				
MTNR1B	4544	broad.mit.edu	37	11	92702949	92702949	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr11:92702949C>T	ENST00000257068.2	+	1	64	c.58C>T	c.(58-60)Ccg>Tcg	p.P20S		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	20					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GGCAGTGCGCCCGGGCTGGTC	0.741																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(58-60)Ccg>Tcg		melatonin receptor 1B	Ramelteon(DB00980)						8.0	10.0	9.0					11																	92702949		2095	4074	6169	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92702949C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.58C>T	11.37:g.92702949C>T	ENSP00000257068:p.Pro20Ser						p.P20S	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			1	64	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	20						Missense_Mutation	SNP	ENST00000257068.2	37	c.58C>T	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907565	0.33721	.	.	ENSG00000134640	ENST00000257068	T	0.72835	-0.69	4.36	3.43	0.39272	.	0.333575	0.24003	N	0.042445	T	0.54319	0.1851	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.43360	-0.9396	10	0.30854	T	0.27	-12.5012	12.096	0.53755	0.0:0.9127:0.0:0.0873	.	20	P49286	MTR1B_HUMAN	S	20	ENSP00000257068:P20S	ENSP00000257068:P20S	P	+	1	0	MTNR1B	92342597	0.000000	0.05858	0.716000	0.30569	0.026000	0.11368	0.075000	0.14686	1.974000	0.57490	0.455000	0.32223	CCG		0.741	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			6	38	0	0	0	1	0	6	38				
ATF4P4	100127952	broad.mit.edu	37	11	113661439	113661439	+	RNA	SNP	A	A	C			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr11:113661439A>C	ENST00000393544.2	+	0	1487									activating transcription factor 4 pseudogene 4																		TAATAAGGAGACCCCCAGACG	0.507																																						ENST00000393544.2																			0																																																			0							g.chr11:113661439A>C			11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113661439A>C														0	1487	+									RNA	SNP	ENST00000393544.2	37																																																																																						0.507	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		20	210	0	0	0	1	0	20	210				
LRRIQ3	127255	broad.mit.edu	37	1	74649266	74649266	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:74649266A>C	ENST00000395089.1	-	1	102	c.103T>G	c.(103-105)Ttc>Gtc	p.F35V	LRRIQ3_ENST00000370909.2_Missense_Mutation_p.F35V|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.F35V|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.F35V			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	35			F -> C (in dbSNP:rs2274904).							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						aggccattgaacttcacaaaa	0.338																																						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.(103-105)Ttc>Gtc		leucine-rich repeats and IQ motif containing 3							58.0	61.0	60.0					1																	74649266		2201	4296	6497	SO:0001583	missense	127255							g.chr1:74649266A>C	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.103T>G	1.37:g.74649266A>C	ENSP00000378524:p.Phe35Val					LRRIQ3_ENST00000370911.3_Missense_Mutation_p.F35V|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.F35V|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.F35V	p.F35V	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			2	294	-			35		F -> C (in dbSNP:rs2274904).			A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.103T>G	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.251128	0.39797	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972;ENST00000370911	T;T;T;T	0.29397	1.94;1.94;1.57;1.94	5.06	5.06	0.68205	.	0.265869	0.26951	N	0.021675	T	0.08044	0.0201	N	0.24115	0.695	0.22851	N	0.998658	P	0.35328	0.495	B	0.33750	0.169	T	0.06935	-1.0799	10	0.52906	T	0.07	.	5.602	0.17359	0.7368:0.1747:0.0885:0.0	.	35	A6PVS8	LRIQ3_HUMAN	V	35	ENSP00000378524:F35V;ENSP00000346414:F35V;ENSP00000359946:F35V;ENSP00000359948:F35V	ENSP00000346414:F35V	F	-	1	0	LRRIQ3	74421854	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	2.233000	0.43027	2.015000	0.59207	0.533000	0.62120	TTC		0.338	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		5	12	0	0	0	1	0	5	12				
CENPE	1062	broad.mit.edu	37	4	104065638	104065638	+	Silent	SNP	C	C	G	rs142875576		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr4:104065638C>G	ENST00000265148.3	-	33	5084	c.4995G>C	c.(4993-4995)acG>acC	p.T1665T	CENPE_ENST00000380026.3_Silent_p.T1640T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1665					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTATATTCTCCGTTTCTATGT	0.388																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(4993-4995)acG>acC		centromere protein E, 312kDa							169.0	162.0	164.0					4																	104065638		2202	4300	6502	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104065638C>G	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4995G>C	4.37:g.104065638C>G						CENPE_ENST00000380026.3_Silent_p.T1640T	p.T1665T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	33	5084	-			1665					A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.4995G>C	CCDS34042.1																																																																																				0.388	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	39	0	0	0	1	0	11	39				
FAT3	120114	broad.mit.edu	37	11	92577145	92577145	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr11:92577145C>T	ENST00000298047.6	+	18	10629	c.10612C>T	c.(10612-10614)Cgc>Tgc	p.R3538C	FAT3_ENST00000409404.2_Missense_Mutation_p.R3538C|FAT3_ENST00000525166.1_Missense_Mutation_p.R3388C|FAT3_ENST00000533797.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3538	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACTTACATCCGCGTGCGAGT	0.468										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10612-10614)Cgc>Tgc		FAT atypical cadherin 3							168.0	165.0	166.0					11																	92577145		1938	4140	6078	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577145C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10612C>T	11.37:g.92577145C>T	ENSP00000298047:p.Arg3538Cys	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.R3538C|FAT3_ENST00000525166.1_Missense_Mutation_p.R3388C	p.R3538C			Q8TDW7	FAT3_HUMAN			18	10629	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3538			Cadherin 32.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10612C>T		.	.	.	.	.	.	.	.	.	.	C	13.38	2.221359	0.39300	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.08282	3.11;3.11;3.11	5.62	5.62	0.85841	.	.	.	.	.	T	0.17492	0.0420	M	0.64404	1.975	0.80722	D	1	D	0.54047	0.964	P	0.46758	0.526	T	0.00247	-1.1881	9	0.54805	T	0.06	.	19.6523	0.95822	0.0:1.0:0.0:0.0	.	3538	Q8TDW7-3	.	C	3538;3538;3388	ENSP00000298047:R3538C;ENSP00000387040:R3538C;ENSP00000432586:R3388C	ENSP00000298047:R3538C	R	+	1	0	FAT3	92216793	0.286000	0.24305	0.203000	0.23512	0.175000	0.22909	3.062000	0.49971	2.650000	0.89964	0.561000	0.74099	CGC		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	284	0	0	0	1	0	11	284				
TUBB8P7	197331	broad.mit.edu	37	16	90161753	90161753	+	RNA	SNP	T	T	C	rs6500470	byFrequency	TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr16:90161753T>C	ENST00000564451.1	+	0	1106				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CAGACAGGATTATAAACACAT	0.562													.|||	1448	0.289137	0.6051	0.232	5008	,	,		18052	0.002		0.335	False		,,,				2504	0.1513					ENST00000564451.1																			0																																																			0							g.chr16:90161753T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161753T>C						TUBB8P7_ENST00000567960.1_RNA								0	1106	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.562	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	82	0	0	0	1	0	4	82				
SVEP1	79987	broad.mit.edu	37	9	113312165	113312165	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr9:113312165C>A	ENST00000401783.2	-	2	1087	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	SVEP1_ENST00000374461.1_Nonsense_Mutation_p.E228*|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.E251*|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.E228*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	251	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCTCAAATTCTTCAAAACTG	0.463																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(751-753)Gaa>Taa		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							72.0	68.0	69.0					9																	113312165		1927	4129	6056	SO:0001587	stop_gained	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113312165C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.751G>T	9.37:g.113312165C>A	ENSP00000384917:p.Glu251*					SVEP1_ENST00000302728.8_Nonsense_Mutation_p.E251*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.E228*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.E228*|SVEP1_ENST00000467821.1_5'UTR	p.E251*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			2	1087	-			251			VWFA.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Nonsense_Mutation	SNP	ENST00000401783.2	37	c.751G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	43	10.379304	0.99394	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.497	0.95077	0.0:1.0:0.0:0.0	.	.	.	.	X	251;228;251;228	.	ENSP00000304118:E251X	E	-	1	0	SVEP1	112351986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.384000	0.79751	2.677000	0.91161	0.563000	0.77884	GAA		0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	22	1	0	0.00116845	1	0.0012808	6	22				
DRD3	1814	broad.mit.edu	37	3	113850057	113850057	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr3:113850057C>G	ENST00000460779.1	-	7	1203	c.914G>C	c.(913-915)aGa>aCa	p.R305T	DRD3_ENST00000383673.2_Missense_Mutation_p.R305T|DRD3_ENST00000467632.1_Missense_Mutation_p.R305T|DRD3_ENST00000295881.7_Intron	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	305					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGTCGATAATCTGCCATTGCT	0.517																																						ENST00000383673.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(913-915)aGa>aCa		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						161.0	164.0	163.0					3																	113850057		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113850057C>G		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.914G>C	3.37:g.113850057C>G	ENSP00000419402:p.Arg305Thr					DRD3_ENST00000460779.1_Missense_Mutation_p.R305T|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000467632.1_Missense_Mutation_p.R305T	p.R305T	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			6	1344	-			305					A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.914G>C	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569006	0.45798	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673	T;T;T	0.74002	-0.8;-0.8;-0.8	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	L	0.45228	1.405	0.41741	D	0.989618	B;B;B	0.25609	0.062;0.062;0.13	B;B;B	0.29267	0.1;0.1;0.1	T	0.62105	-0.6924	10	0.40728	T	0.16	.	7.0925	0.25291	0.0:0.8041:0.0:0.1959	.	305;305;305	A1A4V4;A8K8E4;P35462	.;.;DRD3_HUMAN	T	305	ENSP00000419402:R305T;ENSP00000420662:R305T;ENSP00000373169:R305T	ENSP00000373169:R305T	R	-	2	0	DRD3	115332747	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	1.853000	0.39358	2.866000	0.98385	0.650000	0.86243	AGA		0.517	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		18	169	0	0	0	1	0	18	169				
NBPF10	100132406	broad.mit.edu	37	1	145367800	145367800	+	Missense_Mutation	SNP	G	G	A	rs201525063		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:145367800G>A	ENST00000342960.5	+	83	10431	c.10396G>A	c.(10396-10398)Gat>Aat	p.D3466N	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	761						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.D3466N(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aggggaagaagaTCAAAACCC	0.428																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.D3466N(1)	endometrium(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10396-10398)Gat>Aat		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367800G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10396G>A	1.37:g.145367800G>A	ENSP00000345684:p.Asp3466Asn					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.D3466N	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10431	+	all_hematologic(923;0.032)		3466					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10396G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	9.745	1.165911	0.21538	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.09723	2.95	.	.	.	.	.	.	.	.	T	0.11067	0.0270	M	0.85197	2.74	0.09310	N	1	.	.	.	.	.	.	T	0.11891	-1.0569	5	0.59425	D	0.04	.	.	.	.	.	.	.	.	N	586;3466	ENSP00000345684:D3466N	ENSP00000345684:D3466N	D	+	1	0	NBPF10	144079157	0.020000	0.18652	0.199000	0.23439	0.199000	0.23934	0.885000	0.28227	0.162000	0.19483	0.165000	0.16767	GAT		0.428	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		13	70	0	0	0	1	0	13	70				
MAST1	22983	broad.mit.edu	37	19	12954360	12954360	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr19:12954360G>C	ENST00000251472.4	+	4	305	c.266G>C	c.(265-267)tGg>tCg	p.W89S	MAST1_ENST00000591495.1_Missense_Mutation_p.W85S	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGACGCCGGTGGTCTCTGGCC	0.657																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(265-267)tGg>tCg		microtubule associated serine/threonine kinase 1							64.0	56.0	59.0					19																	12954360		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12954360G>C	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.266G>C	19.37:g.12954360G>C	ENSP00000251472:p.Trp89Ser					MAST1_ENST00000591495.1_Missense_Mutation_p.W85S	p.W89S	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			4	305	+			89						Missense_Mutation	SNP	ENST00000251472.4	37	c.266G>C	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116603	0.77323	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.51574	0.7	4.43	4.43	0.53597	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.64402	D	0.000001	T	0.74854	0.3771	M	0.92268	3.29	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.76071	0.987;0.947	T	0.82174	-0.0588	10	0.72032	D	0.01	-16.6165	14.9453	0.71026	0.0:0.0:1.0:0.0	.	89;89	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	S	89	ENSP00000251472:W89S	ENSP00000251472:W89S	W	+	2	0	MAST1	12815360	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.448000	0.97600	2.189000	0.69895	0.655000	0.94253	TGG		0.657	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		46	67	0	0	0	1	0	46	67				
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	lincRNA	DEL	AT	AT	-	rs139058677		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342																																						ENST00000473595.1																			0																																																			0							g.chr3:161146872_161146873delAT																													3.37:g.161146882_161146883delAT								NR_102265.1						0	1231	+									RNA	DEL	ENST00000473595.1	37																																																																																						0.342	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			4	7						4	7	---	---	---	---
ANKRD37	353322	broad.mit.edu	37	4	186318457	186318458	+	Splice_Site	INS	-	-	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr4:186318457_186318458insT	ENST00000335174.4	+	2	620		c.e2+1		LRP2BP_ENST00000505916.1_5'Flank|ANKRD37_ENST00000507479.1_Splice_Site	NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37							cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		CAACCAGCAGGTAACTAGGTAA	0.535																																						ENST00000335174.4																			0				NS(1)|large_intestine(1)|lung(1)	3						c.e2+1		ankyrin repeat domain 37																																				SO:0001630	splice_region_variant	353322					cytoplasm|nucleus		g.chr4:186318457_186318458insT	AY296056	CCDS3841.1	4q35.1	2013-01-11						"""Ankyrin repeat domain containing"""	29593	protein-coding gene	gene with protein product							Standard	NM_181726		Approved	Lrp2bp	uc003ixm.3	Q7Z713		ENST00000335174.4:c.180+1->T	4.37:g.186318458_186318458dupT						ANKRD37_ENST00000507479.1_Splice_Site		NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)	2	620	+		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)							Splice_Site	INS	ENST00000335174.4	37		CCDS3841.1																																																																																				0.535	ANKRD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360673.1	NM_181726	Intron	14	44						14	44	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(454-459)agc>a		T-cell immunoglobulin and mucin domain containing 4																																				SO:0001651	inframe_deletion	91937					integral to membrane		g.chr5:156378745_156378747delTTG	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del					TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	511_513	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	152			Thr-rich.		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	c.455_457delCAA	CCDS4332.1																																																																																				0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		8	415						8	415	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102737277	102737283	+	RNA	DEL	TTTCCAT	TTTCCAT	-	rs28381683	byFrequency	TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr11:102737277_102737283delTTTCCAT	ENST00000532855.1	-	0	1007							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)			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)	CCAATATTTCTTTCCATTGTCTTCACA	0.362														297	0.0593051	0.0045	0.0634	5008	,	,		22103	0.0367		0.1272	False		,,,				2504	0.0838					ENST00000532855.1																			0				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)																																					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.chr11:102737277_102737283delTTTCCAT	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.102737277_102737283delTTTCCAT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	1007	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	DEL	ENST00000532855.1	37																																																																																						0.362	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		4	2						4	2	---	---	---	---
POU4F1	5457	broad.mit.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	TGG	-	rs371388366		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr13:79176484_79176486delTGG	ENST00000377208.5	-	2	535_537	c.324_326delCCA	c.(322-327)caccag>cag	p.H108del	RNF219-AS1_ENST00000607205.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607860.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	108	Poly-His.				axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.H108delH(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5																			1	Deletion - In frame(1)	p.H108delH(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(322-327)cag>ca		POU class 4 homeobox 1																																				SO:0001651	inframe_deletion	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79176484_79176486delTGG	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.324_326delCCA	13.37:g.79176493_79176495delTGG	ENSP00000366413:p.His108del					RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA	p.HQ108del	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	535_537	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	108			Poly-His.		Q14986|Q15318|Q5T227	In_Frame_Del	DEL	ENST00000377208.5	37	c.324_326delCCA	CCDS31996.1																																																																																				0.729	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			3	5						3	5	---	---	---	---
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs10569304	byFrequency	TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	TMEM121_ENST00000431372.1_In_Frame_Del_p.P299del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	299	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768														2057	0.410743	0.7292	0.219	5008	,	,		12737	0.501		0.2545	False		,,,				2504	0.184					ENST00000392519.2																			0				endometrium(2)|lung(1)	3						c.(877-882)gtg>gt		transmembrane protein 121				304,182		142,20,81						1.9	1.0		dbSNP_119	2	455,1007		182,91,458	no	coding	TMEM121	NM_025268.2		324,111,539	A1A1,A1R,RR		31.1218,37.4486,38.963				759,1189				SO:0001651	inframe_deletion	80757					integral to membrane		g.chr14:105996050_105996052delGCC		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.879_881delGCC	14.37:g.105996059_105996061delGCC	ENSP00000376304:p.Pro299del					TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)	2	1043_1045	+		Melanoma(154;0.226)	293			Pro-rich.			In_Frame_Del	DEL	ENST00000392519.2	37	c.879_881delGCC	CCDS10006.1																																																																																				0.768	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268		5	8						5	8	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578548	7578569	+	Splice_Site	DEL	GGGAGTACTGTAGGAAGAGGAA	GGGAGTACTGTAGGAAGAGGAA	-			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:7578548_7578569delGGGAGTACTGTAGGAAGAGGAA	ENST00000269305.4	-	5	565_571	c.376_382delTTCCTCTTCCTACAGTACTCCC	c.(376-384)ttcctcttc>tc	p.FLF126fs	TP53_ENST00000455263.2_Splice_Site_p.FLF126fs|TP53_ENST00000445888.2_Splice_Site_p.FLF126fs|TP53_ENST00000359597.4_Splice_Site_p.FLF126fs|TP53_ENST00000420246.2_Splice_Site_p.FLF126fs|TP53_ENST00000413465.2_Splice_Site_p.FLF126fs|TP53_ENST00000574684.1_5'Flank	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	126	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(81)|p.S127F(23)|p.Y126*(14)|p.Y126D(9)|p.S127Y(8)|p.0?(8)|p.S127C(7)|p.P128S(7)|p.S127T(6)|p.S127P(6)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.P128fs*42(5)|p.Y126C(4)|p.Y126_S127insQPHH(3)|p.Y126_N131delYSPALN(3)|p.A129fs*20(3)|p.Y33*(2)|p.Y33D(2)|p.S34C(2)|p.Y126fs*44(2)|p.Y126S(2)|p.Y126Y(1)|p.S127S(1)|p.S127_Q136del10(1)|p.T125_Y126insX(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127fs*22(1)|p.S34F(1)|p.A36fs*20(1)|p.S34P(1)|p.P13fs*18(1)|p.Y126fs*18(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128A(1)|p.Y33_S34insQPHH(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)	TTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAG	0.559		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		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"""		228	Substitution - Missense(85)|Unknown(81)|Substitution - Nonsense(16)|Deletion - Frameshift(15)|Deletion - In frame(11)|Whole gene deletion(8)|Insertion - In frame(5)|Insertion - Frameshift(4)|Substitution - coding silent(2)|Complex - frameshift(1)	p.?(81)|p.S127F(23)|p.Y126*(14)|p.Y126D(9)|p.S127Y(8)|p.0?(8)|p.S127C(7)|p.P128S(7)|p.S127T(6)|p.S127P(6)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.P128fs*42(5)|p.Y126C(4)|p.Y126_S127insQPHH(3)|p.Y126_N131delYSPALN(3)|p.A129fs*20(3)|p.Y33*(2)|p.Y33D(2)|p.S34C(2)|p.Y126fs*44(2)|p.Y126S(2)|p.Y126Y(1)|p.S127S(1)|p.S127_Q136del10(1)|p.T125_Y126insX(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127fs*22(1)|p.S34F(1)|p.A36fs*20(1)|p.S34P(1)|p.P13fs*18(1)|p.Y126fs*18(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128A(1)|p.Y33_S34insQPHH(1)	lung(39)|breast(27)|ovary(24)|upper_aerodigestive_tract(19)|large_intestine(17)|central_nervous_system(15)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|pancreas(11)|urinary_tract(10)|prostate(9)|liver(6)|skin(6)|bone(5)|stomach(4)|NS(4)|biliary_tract(3)|autonomic_ganglia(1)|salivary_gland(1)|endometrium(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	CI004819	TP53	I		c.e5-1	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001630	splice_region_variant	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.chr17:7578548_7578569delGGGAGTACTGTAGGAAGAGGAA	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.376-1TTCCTCTTCCTACAGTACTCCC>-	17.37:g.7578548_7578569delGGGAGTACTGTAGGAAGAGGAA		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_ENST00000455263.2_Splice_Site_p.126_splice|TP53_ENST00000445888.2_Splice_Site_p.126_splice|TP53_ENST00000269305.4_Splice_Site_p.126_splice|TP53_ENST00000413465.2_Splice_Site_p.126_splice|TP53_ENST00000359597.4_Splice_Site_p.126_splice	p.126_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	508_514	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	126		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	DEL	ENST00000269305.4	37	c.375_splice	CCDS11118.1																																																																																				0.559	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Frame_Shift_Del	7	20						7	20	---	---	---	---
CCDC144CP	348254	broad.mit.edu	37	17	20227624	20227624	+	lincRNA	DEL	A	A	-	rs201417145		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:20227624delA	ENST00000580225.1	+	0	390				U6_ENST00000517027.1_RNA|CCDC144CP_ENST00000340196.4_RNA																							AAAAAGAAGTAAGAGTCAGGA	0.318																																						ENST00000340196.4																			0																																																			0							g.chr17:20227624delA																													17.37:g.20227624delA														0	568	+									RNA	DEL	ENST00000580225.1	37																																																																																						0.318	AC004702.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000448285.1			4	8						4	8	---	---	---	---
PLIN3	10226	broad.mit.edu	37	19	4852140	4852141	+	Frame_Shift_Del	DEL	TT	TT	-	rs572114830		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr19:4852140_4852141delTT	ENST00000221957.4	-	5	697_698	c.521_522delAA	c.(520-522)caafs	p.Q174fs	PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q162fs|PLIN3_ENST00000585479.1_Frame_Shift_Del_p.Q174fs	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	174					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CCATGACCGATTGGACGCCGCC	0.663											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(520-522)cfs		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)																																			SO:0001589	frameshift_variant	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4852140_4852141delTT	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.521_522delAA	19.37:g.4852140_4852141delTT	ENSP00000221957:p.Gln174fs		OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q162fs|PLIN3_ENST00000585479.1_Frame_Shift_Del_p.Q174fs	p.Q174fs	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			5	697_698	-			174					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Frame_Shift_Del	DEL	ENST00000221957.4	37	c.521_522delAA	CCDS12137.1																																																																																				0.663	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		31	45						31	45	---	---	---	---
ATF4	468	broad.mit.edu	37	22	39917951	39917951	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr22:39917951delC	ENST00000337304.2	+	2	1282	c.400delC	c.(400-402)cccfs	p.P135fs	ATF4_ENST00000404241.2_Frame_Shift_Del_p.P135fs|ATF4_ENST00000396680.1_Frame_Shift_Del_p.P135fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	135					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	TAATAAGCAGCCCCCCCAGAC	0.527																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(400-402)ccfs		activating transcription factor 4							161.0	177.0	172.0					22																	39917951		2203	4300	6503	SO:0001589	frameshift_variant	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917951delC	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.400delC	22.37:g.39917951delC	ENSP00000336790:p.Pro135fs					ATF4_ENST00000404241.2_Frame_Shift_Del_p.P135fs|ATF4_ENST00000396680.1_Frame_Shift_Del_p.P135fs	p.P135fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN			2	1282	+	Melanoma(58;0.04)		135					Q9UH31	Frame_Shift_Del	DEL	ENST00000337304.2	37	c.400delC	CCDS13996.1																																																																																				0.527	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		80	264						80	264	---	---	---	---
