#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
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		Somatic				LRRIQ3_ENST00000395089.1_Missense_Mutation_p.F35V|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.F35V|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.F35V	p.F35V	NM_001105659.1	NP_001099129.1	WXS	Illumina GAIIx	Phase_I	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	5	12	---	---	---	---
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_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.K1293R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.K1201R	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		Somatic				OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.K1201R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.K1201R	p.K1293R	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	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	36	99	---	---	---	---
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			28891							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			Somatic								WXS	Illumina GAIIx	Phase_I					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	25	158	---	---	---	---
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_ENST00000467632.1_Missense_Mutation_p.R305T|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000383673.2_Missense_Mutation_p.R305T	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		Somatic				DRD3_ENST00000467632.1_Missense_Mutation_p.R305T|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000460779.1_Missense_Mutation_p.R305T	p.R305T	NM_000796.3	NP_000787.2	WXS	Illumina GAIIx	Phase_I	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	18	169	---	---	---	---
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_ENST00000264775.5_Intron|PPAP2A_ENST00000515132.1_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*		Somatic				PPAP2A_ENST00000515132.1_Intron|PPAP2A_ENST00000264775.5_Intron	p.S29*	NM_003711.2	NP_003702.2	WXS	Illumina GAIIx	Phase_I	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	3	18	---	---	---	---
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		Somatic				NOTCH4_ENST00000465528.1_5'UTR	p.S809G	NM_004557.3	NP_004548.3	WXS	Illumina GAIIx	Phase_I	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	4	64	---	---	---	---
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_ENST00000341594.5_Missense_Mutation_p.I4687L|SYNE1_ENST00000265368.4_Missense_Mutation_p.I4940L|SYNE1_ENST00000423061.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000448038.1_Missense_Mutation_p.I4869L	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)	Somatic				SYNE1_ENST00000448038.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000265368.4_Missense_Mutation_p.I4940L|SYNE1_ENST00000341594.5_Missense_Mutation_p.I4687L|SYNE1_ENST00000423061.1_Missense_Mutation_p.I4869L	p.I4940L	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	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	68	137	---	---	---	---
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		Somatic				AGPAT4_ENST00000457520.2_Missense_Mutation_p.W144C|AGPAT4_ENST00000366911.5_3'UTR	p.W306C	NM_020133.2	NP_064518.1	WXS	Illumina GAIIx	Phase_I	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	24	92	---	---	---	---
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_ENST00000520103.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000522527.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000357039.4_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*		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	13	96	---	---	---	---
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*		Somatic				SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.E228*|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.E251*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.E228*	p.E251*	NM_153366.3	NP_699197.3	WXS	Illumina GAIIx	Phase_I	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	6	22	---	---	---	---
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|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A189S|RNU6-811P_ENST00000384069.1_RNA			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		Somatic				ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A189S|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A189S	p.A189S			WXS	Illumina GAIIx	Phase_I	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	53	104	---	---	---	---
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)	Somatic				FAT3_ENST00000409404.2_Missense_Mutation_p.R3538C|FAT3_ENST00000525166.1_Missense_Mutation_p.R3388C	p.R3538C			WXS	Illumina GAIIx	Phase_I	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	11	284	---	---	---	---
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		Somatic					p.P20S	NM_005959.3	NP_005950.1	WXS	Illumina GAIIx	Phase_I	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	6	38	---	---	---	---
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_ENST00000545021.1_Nonsense_Mutation_p.Q49*|LYSMD4_ENST00000344791.2_Nonsense_Mutation_p.Q176*|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Nonsense_Mutation_p.Q175*	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*		Somatic				LYSMD4_ENST00000332728.4_Nonsense_Mutation_p.Q175*|LYSMD4_ENST00000409796.1_Nonsense_Mutation_p.Q175*|LYSMD4_ENST00000344791.2_Nonsense_Mutation_p.Q176*|LYSMD4_ENST00000604213.1_Intron	p.Q49*			WXS	Illumina GAIIx	Phase_I	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	35	100	---	---	---	---
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		Somatic				TLDC1_ENST00000535580.1_Missense_Mutation_p.P304L	p.P331L	NM_020947.3	NP_065998.3	WXS	Illumina GAIIx	Phase_I					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	3	43	---	---	---	---
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*		Somatic				CHD3_ENST00000330494.7_Nonsense_Mutation_p.E1727*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.E1693*	p.E1786*	NM_001005271.2	NP_001005271.2	WXS	Illumina GAIIx	Phase_I	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	4	8	---	---	---	---
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_ENST00000379980.4_Missense_Mutation_p.R205K|MYH10_ENST00000396239.1_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	30	23	---	---	---	---
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_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.A160V|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.A160V	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		Somatic				TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.A160V|TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.A206V	p.A160V			WXS	Illumina GAIIx	Phase_I	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	57	106	---	---	---	---
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	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V703F|FAM83G_ENST00000585154.2_Missense_Mutation_p.V703F			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		Somatic				SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V703F|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V703F	p.V703F			WXS	Illumina GAIIx	Phase_I	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	27	53	---	---	---	---
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		Somatic				MAST1_ENST00000591495.1_Missense_Mutation_p.W85S	p.W89S	NM_014975.2	NP_055790.1	WXS	Illumina GAIIx	Phase_I	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	46	67	---	---	---	---
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_ENST00000335626.4_Missense_Mutation_p.N944I|TCF20_ENST00000404876.1_5'Flank	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		Somatic				TCF20_ENST00000335626.4_Missense_Mutation_p.N944I	p.N944I	NM_005650.1	NP_005641.1	WXS	Illumina GAIIx	Phase_I	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	24	83	---	---	---	---
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		Somatic					p.D223H	NM_178470.4	NP_848565.2	WXS	Illumina GAIIx	Phase_I	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	6	40	---	---	---	---
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		ANKRD37_ENST00000507479.1_Splice_Site|LRP2BP_ENST00000505916.1_5'Flank	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			Somatic				ANKRD37_ENST00000507479.1_Splice_Site		NM_181726.2	NP_859077.1	WXS	Illumina GAIIx	Phase_I	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	---	---	---	---
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_ENST00000585479.1_Frame_Shift_Del_p.Q174fs|PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q162fs	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)caafs		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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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)cccfs		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		Somatic				ATF4_ENST00000404241.2_Frame_Shift_Del_p.P135fs|ATF4_ENST00000396680.1_Frame_Shift_Del_p.P135fs	p.P135fs	NM_001675.2	NP_001666.2	WXS	Illumina GAIIx	Phase_I	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	---	---	---	---
