#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
ESPN	83715	broad.mit.edu	37	1	6505817	6505879	+	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	rs530882053|rs139266211	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	-	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENST00000377828.1	+	7	1454_1516	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca	p.PPPPPPSFPPPPPPPGTQLPP430del	ESPN_ENST00000416731.1_5'Flank|RP1-202O8.2_ENST00000419034.1_RNA|ESPN_ENST00000461727.1_5'Flank	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	430	Pro-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGGAAGcccacacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgcccccacccccacc	0.65																																						ENST00000377828.1		NA																	0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca		espin																																				SO:0001651	inframe_deletion	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	1.37:g.6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENSP00000367059:p.Pro430_Pro450del	True	False		Somatic	1				RP1-202O8.2_ENST00000419034.1_RNA	p.PPPPPPSFPPPPPPPGTQLPP430del	NM_031475.2	NP_113663.2	WXS	Illumina HiSeq	Phase_I	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	7	1454_1516	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	430			Pro-rich.		Q6XYB2|Q9H0A2|Q9Y329	In_Frame_Del	DEL	ENST00000377828.1	37	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CCDS70.1																																																																																				0.650	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	0	NM_031475		1:6505817
PPFIBP2	8495	broad.mit.edu	37	11	7661048	7661050	+	In_Frame_Del	DEL	CTC	CTC	-	rs375552735|rs143023559	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr11:7661048_7661050delCTC	ENST00000299492.4	+	15	1710_1712	c.1322_1324delCTC	c.(1321-1326)tctcct>tct	p.P443del	PPFIBP2_ENST00000530181.1_In_Frame_Del_p.P300del|PPFIBP2_ENST00000528883.1_In_Frame_Del_p.P331del|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_In_Frame_Del_p.P285del	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	443					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)	p.P442S(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCTGCCAAATCTCCTCCCACCAT	0.596														226	0.0451278	0.0129	0.0576	5008	,	,		18604	0.0933		0.0477	False		,,,				2504	0.0276					ENST00000530181.1		NA																	1	Substitution - Missense(1)	p.P442S(1)	upper_aerodigestive_tract(1)	breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(892-897)tctcct>tct		PTPRF interacting protein, binding protein 2 (liprin beta 2)				85,4179		1,83,2048						1.4	0.0		dbSNP_134	94	316,7928		9,298,3815	no	coding	PPFIBP2	NM_003621.2		10,381,5863	A1A1,A1R,RR		3.8331,1.9934,3.2059				401,12107				SO:0001651	inframe_deletion	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7661048_7661050delCTC	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1322_1324delCTC	11.37:g.7661051_7661053delCTC	ENSP00000299492:p.Pro443del	False	False		Somatic	2				PPFIBP2_ENST00000533792.1_In_Frame_Del_p.P285del|PPFIBP2_ENST00000528883.1_In_Frame_Del_p.P331del|PPFIBP2_ENST00000299492.4_In_Frame_Del_p.P443del|PPFIBP2_ENST00000530582.1_3'UTR	p.P300del	NM_001256569.1	NP_001243498.1	WXS	Illumina HiSeq	Phase_I	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	11	1114_1116	+			443					B7Z433|E9PK77|O75337|Q8WW26	In_Frame_Del	DEL	ENST00000299492.4	37	c.893_895delCTC	CCDS31419.1																																																																																				0.596	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	0	NM_003621		11:7661048
LOC440040	440040	broad.mit.edu	37	11	49831603	49831603	+	RNA	DEL	G	G	-	rs34205352	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr11:49831603delG	ENST00000527477.1	+	0	1828																											ATTCAGTGCAGTCTCTTTACC	0.428																																						ENST00000527477.1		NA																	0					NA																																														0							g.chr11:49831603delG																													11.37:g.49831603delG		False	False		Somatic	1								WXS	Illumina HiSeq	Phase_I					0	1828	+			NA						RNA	DEL	ENST00000527477.1	37																																																																																						0.428	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2	0			11:49831603
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000530235.1_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
DCP1B	196513	broad.mit.edu	37	12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG	rs570843986	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr12:2062350_2062351insTGG	ENST00000280665.6	-	7	834_835	c.755_756insCCA	c.(754-756)cag>caCCAg	p.251_252insH	DCP1B_ENST00000540622.1_In_Frame_Ins_p.125_126insH|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251	Poly-Gln.			H -> HQ (in Ref. 1; AAN62764, 2; BAB71118 and 4; AAH15368/AAH43437). {ECO:0000305}.	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.55																																						ENST00000540622.1		NA																	8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(376-378)cag>caCCAg		decapping mRNA 1B																																				SO:0001652	inframe_insertion	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350_2062351insTGG	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.753_755dupCCA	12.37:g.2062354_2062356dupTGG	ENSP00000280665:p.His251_His251dup	True	False		Somatic	2				DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH|DCP1B_ENST00000280665.6_In_Frame_Ins_p.251_252insH	p.125_126insH			WXS	Illumina HiSeq	Phase_I	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		4	435_436	-			251					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	In_Frame_Ins	INS	ENST00000280665.6	37	c.377_378insCCA	CCDS31727.1																																																																																				0.550	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	0	NM_152640		12:2062350
OR10G2	26534	broad.mit.edu	37	14	22102229	22102231	+	In_Frame_Del	DEL	TAG	TAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	TAG	TAG	-	-	TAG	TAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr14:22102229_22102231delTAG	ENST00000542433.1	-	1	865_867	c.768_770delCTA	c.(766-771)tactat>tat	p.256_257YY>Y		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		ACAGGGGACATAGTAGACTGTGA	0.552																																						ENST00000542433.1		NA																	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(766-771)tactat>tat		olfactory receptor, family 10, subfamily G, member 2																																				SO:0001651	inframe_deletion	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102229_22102231delTAG		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.768_770delCTA	14.37:g.22102232_22102234delTAG	ENSP00000445383:p.Tyr257del	False	False		Somatic	2					p.256_257YY>Y	NM_001005466.1	NP_001005466.1	WXS	Illumina HiSeq	Phase_I	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	865_867	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	256					B2RPD0	In_Frame_Del	DEL	ENST00000542433.1	37	c.768_770delCTA	CCDS32047.1																																																																																				0.552	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1	0			14:22102229
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5		NA																	1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gtggct>gct		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del	False	False		Somatic	1				ZFHX3_ENST00000397992.5_Intron	p.V777del	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72991713
NPIPB15	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	CAA	-	rs370078939		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:74425400_74425402delCAA	ENST00000429990.1	+	7	850_852	c.754_756delCAA	c.(754-756)caadel	p.Q253del				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	253	Pro-rich.					extracellular region (GO:0005576)											TCCTCCAACTCAACAACATTCTA	0.517																																						ENST00000429990.1		NA																	0					NA						c.(754-756)caadel		nuclear pore complex interacting protein family, member B15																																				SO:0001651	inframe_deletion	440348							g.chr16:74425400_74425402delCAA	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.754_756delCAA	16.37:g.74425403_74425405delCAA	ENSP00000411140:p.Gln253del	False	False		Somatic	2					p.Q253del			WXS	Illumina HiSeq	Phase_I					7	850_852	+			NA					C9J9U8	In_Frame_Del	DEL	ENST00000429990.1	37	c.754_756delCAA																																																																																					0.517	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	0	NM_001018059		16:74425400
LENG9	94059	broad.mit.edu	37	19	54973989	54973991	+	In_Frame_Del	DEL	CCT	CCT	-	rs140013148|rs36031488|rs201201812|rs115301361	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:54973989_54973991delCCT	ENST00000333834.4	-	1	903_905	c.785_787delAGG	c.(784-789)gaggca>gca	p.E262del		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	262							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGCTTCAGTGCCTCCTCAGTCAC	0.67														2078	0.414936	0.4138	0.4193	5008	,	,		15817	0.2321		0.5716	False		,,,				2504	0.4407					ENST00000333834.4		NA																	0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11						c.(784-789)gaggca>gca		leukocyte receptor cluster (LRC) member 9				1758,2474		401,956,759						-8.3	0.0		dbSNP_126	46	4543,3643		1316,1911,866	no	coding	LENG9	NM_198988.1		1717,2867,1625	A1A1,A1R,RR		44.5028,41.5406,49.2591				6301,6117				SO:0001651	inframe_deletion	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54973989_54973991delCCT	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.785_787delAGG	19.37:g.54973992_54973994delCCT	ENSP00000331647:p.Glu262del	False	False		Somatic	2					p.E262del	NM_198988.1	NP_945339.2	WXS	Illumina HiSeq	Phase_I	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	903_905	-	Ovarian(34;0.19)		262					B2VAM3	In_Frame_Del	DEL	ENST00000333834.4	37	c.785_787delAGG	CCDS12895.2																																																																																				0.670	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	0	NM_198988		19:54973989
PLXNB2	23654	broad.mit.edu	37	22	50717108	50717109	+	Frame_Shift_Ins	INS	-	-	GGAGCCC			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:50717108_50717109insGGAGCCC	ENST00000449103.1	-	29	4703_4704	c.4563_4564insGGGCTCC	c.(4561-4566)tccacafs	p.T1522fs	PLXNB2_ENST00000359337.4_Frame_Shift_Ins_p.T1522fs			O15031	PLXB2_HUMAN	plexin B2	1522					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATCTGCGCTGTGGAGCCCGGAC	0.639																																						ENST00000449103.1		NA																	0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4561-4566)tccacafs		plexin B2																																				SO:0001589	frameshift_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50717108_50717109insGGAGCCC		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4557_4563dupGGGCTCC	22.37:g.50717109_50717115dupGGAGCCC	ENSP00000409171:p.Thr1522fs	False	False		Somatic	1				PLXNB2_ENST00000359337.4_Frame_Shift_Ins_p.T1522fs	p.T1522fs			WXS	Illumina HiSeq	Phase_I	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	29	4703_4704	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1522					A6QRH0|Q7KZU3|Q9BSU7	Frame_Shift_Ins	INS	ENST00000449103.1	37	c.4563_4564insGGGCTCC	CCDS43035.1																																																																																				0.639	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	0	NM_012401		22:50717108
IRS4	8471	broad.mit.edu	37	X	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-	rs2073114	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616																																						ENST00000372129.2		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(61-66)gcggca>gca		insulin receptor substrate 4																																				SO:0001651	inframe_deletion	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979510_107979512delGCC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.63_65delGGC	X.37:g.107979513_107979515delGCC	ENSP00000361202:p.Ala25del	True	False		Somatic	2					p.21_22AA>A	NM_003604.2	NP_003595.1	WXS	Illumina HiSeq	Phase_I	O14654	IRS4_HUMAN			1	139_141	-			21			Poly-Ala.			In_Frame_Del	DEL	ENST00000372129.2	37	c.63_65delGGC	CCDS14544.1																																																																																				0.616	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	0	NM_003604		X:107979510
PRKRA	8575	broad.mit.edu	37	2	179309229	179309229	+	Splice_Site	DEL	T	T	-	rs373977506		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:179309229delT	ENST00000325748.4	-	4	518		c.e4-2		PRKRA_ENST00000432031.2_Splice_Site|PRKRA_ENST00000438687.3_Splice_Site|PRKRA_ENST00000470200.1_5'Flank|PRKRA_ENST00000487082.1_Splice_Site	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator						cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ACTGCAAAGCTAAATATTTTT	0.338																																					Melanoma(200;68 3001 23825 48764)	ENST00000325748.4		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.e4-2		protein kinase, interferon-inducible double stranded RNA dependent activator							65.0	67.0	66.0					2																	179309229		2203	4300	6503	SO:0001630	splice_region_variant	8575				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	g.chr2:179309229delT	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.318-2A>-	2.37:g.179309229delT		True	False		Somatic	1				PRKRA_ENST00000487082.1_Splice_Site|PRKRA_ENST00000432031.2_Splice_Site|PRKRA_ENST00000438687.3_Splice_Site		NM_003690.4	NP_003681.1	WXS	Illumina HiSeq	Phase_I	O75569	PRKRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)		4	518	-			NA					A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Splice_Site	DEL	ENST00000325748.4	37		CCDS2279.1																																																																																				0.338	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	0	NM_003690	Intron	2:179309229
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000314933.6	+	3	400_453	c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(268-321)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP90del	C1QB_ENST00000509305.1_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP88del	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618																																						ENST00000509305.1		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	1.37:g.22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENSP00000313967:p.Gly90_Pro107del	True	False		Somatic	1				C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del	p.GPKGPMGPKGGPGAPGAP88del			WXS	Illumina HiSeq	Phase_I	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	608_661	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	90			Collagen-like 2.		Q5T959|Q96H17	In_Frame_Del	DEL	ENST00000314933.6	37	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	CCDS228.1																																																																																				0.618	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_000491		1:22987385
CDKN2AIP	55602	broad.mit.edu	37	4	184367559	184367561	+	In_Frame_Del	DEL	CTG	CTG	-	rs398108445|rs147291711|rs10533201|rs201501817	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	CTG	CTG	-	-	CTG	CTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:184367559_184367561delCTG	ENST00000504169.1	+	3	929_931	c.722_724delCTG	c.(721-726)tctgca>tca	p.A242del	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	242	Ser-rich.			Missing (in Ref. 3; EAX04691 and 4; AAH22270). {ECO:0000305}.	negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAACACGGTTCTGCATCATTTGT	0.458														1818	0.363019	0.1203	0.4164	5008	,	,		22238	0.244		0.7247	False		,,,				2504	0.4039					ENST00000504169.1		NA																	0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(721-726)tctgca>tca		CDKN2A interacting protein				915,3351		96,723,1314						1.2	0.8		dbSNP_134	82	6064,2190		2233,1598,296	no	coding	CDKN2AIP	NM_017632.2		2329,2321,1610	A1A1,A1R,RR		26.5326,21.4487,44.2572				6979,5541				SO:0001651	inframe_deletion	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367559_184367561delCTG	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.722_724delCTG	4.37:g.184367559_184367561delCTG	ENSP00000427108:p.Ala242del	False	False		Somatic	1				CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	p.A242del	NM_017632.2	NP_060102.1	WXS	Illumina HiSeq	Phase_I	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	929_931	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	242	Missing (in Ref. 3; EAX04691 and 4; AAH22270).		Ser-rich.		Q8TBM5|Q9NYH0	In_Frame_Del	DEL	ENST00000504169.1	37	c.722_724delCTG	CCDS34110.1																																																																																				0.458	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	0	NM_017632		4:184367559
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
PCDHB18	54660	broad.mit.edu	37	5	140615502	140615504	+	RNA	DEL	TCG	TCG	-	rs113324586|rs10574782|rs71576109	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:140615502_140615504delTCG	ENST00000526308.1	+	0	1565_1567					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TACACCCTGTTCGTCCGCGAGAA	0.611														1159	0.23143	0.4728	0.1527	5008	,	,		16693	0.0933		0.162	False		,,,				2504	0.1748					ENST00000526308.1		NA																	0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														0							g.chr5:140615502_140615504delTCG	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615502_140615504delTCG		False	False		Somatic	1						NR_001281.1		WXS	Illumina HiSeq	Phase_I					0	1565_1567	+			NA					B3KTF8	RNA	DEL	ENST00000526308.1	37																																																																																						0.611	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1	0			5:140615502
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
ZAN	7455	broad.mit.edu	37	7	100385562	100385596	+	RNA	DEL	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	-	rs549519838|rs369526619|rs112538235|rs373952854|rs113714278|rs72364644|rs59541653	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	-	-	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	ENST00000348028.3	+	0	7195_7229				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACATTTGACGGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATGTTCTGATCA	0.583														1187	0.237021	0.1029	0.2752	5008	,	,		26483	0.0327		0.5388	False		,,,				2504	0.2914					ENST00000443370.1		NA																	0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)			,	590,3208		88,414,1397					,	-3.1	0.0		dbSNP_130	52	3589,4247		975,1639,1304	no	frameshift,frameshift	ZAN	NM_173059.1,NM_003386.1	,	1063,2053,2701	A1A1,A1R,RR		45.8014,15.5345,35.9206	,	,		4179,7455						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT		False	False		Somatic	1				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA				WXS	Illumina HiSeq	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7195_7229	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		NA					A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.583	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	0	NM_003386		7:100385562
KMT2C	58508	broad.mit.edu	37	7	151853388	151853388	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:151853388delG	ENST00000262189.6	-	45	11932	c.11714delC	c.(11713-11715)cctfs	p.P3906fs	KMT2C_ENST00000485241.1_5'Flank|KMT2C_ENST00000355193.2_Frame_Shift_Del_p.P3963fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3906					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGTGTAGGAGGAAGAGAGGC	0.438																																						ENST00000262189.6		NA																	0					NA						c.(11713-11715)cctfs		lysine (K)-specific methyltransferase 2C							89.0	91.0	90.0					7																	151853388		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151853388delG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11714delC	7.37:g.151853388delG	ENSP00000262189:p.Pro3906fs	False	False		Somatic	2				KMT2C_ENST00000355193.2_Frame_Shift_Del_p.P3963fs	p.P3906fs	NM_170606.2	NP_733751.2	WXS	Illumina HiSeq	Phase_I					45	11932	-			NA					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.11714delC	CCDS5931.1																																																																																				0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3	0			7:151853388
GLT6D1	360203	broad.mit.edu	37	9	138516347	138516347	+	Frame_Shift_Del	DEL	A	A	-	rs34217442	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:138516347delA	ENST00000371763.1	-	5	680	c.427delT	c.(427-429)tggfs	p.W143fs		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	143					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCATCGAGCCACCACCTCTCG	0.552													A|A|-|deletion	860	0.171725	0.09	0.1888	5008	,	,		16603	0.2103		0.1839	False		,,,				2504	0.2178					ENST00000371763.1		NA																	0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(427-429)tggfs		glycosyltransferase 6 domain containing 1				334,3488		26,282,1603	39.0	36.0	37.0			-1.0	0.0	9	dbSNP_126	43	1598,6358		173,1252,2553	yes	frameshift	GLT6D1	NM_182974.2		199,1534,4156	A1A1,A1R,RR		20.0855,8.7389,16.4035			138516347	1932,9846	1961	4021	5982	SO:0001589	frameshift_variant	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138516347delA	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.427delT	9.37:g.138516347delA	ENSP00000360829:p.Trp143fs	False	False		Somatic	1					p.W143fs	NM_182974.2	NP_892019.2	WXS	Illumina HiSeq	Phase_I	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	5	680	-		Myeloproliferative disorder(178;0.0821)	143						Frame_Shift_Del	DEL	ENST00000371763.1	37	c.427delT	CCDS43900.1																																																																																				0.552	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	0	NM_182974		9:138516347
PDGFRB	5159	broad.mit.edu	37	5	149513526	149513526	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:149513526C>T	ENST00000261799.4	-	5	1146	c.677G>A	c.(676-678)cGc>cAc	p.R226H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	226	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCACCCTGGCGGACCACAGT	0.542			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(676-678)cGc>cAc		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						126.0	110.0	115.0					5																	149513526		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149513526C>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.677G>A	5.37:g.149513526C>T	ENSP00000261799:p.Arg226His	False	False		Somatic	0					p.R226H	NM_002609.3	NP_002600.1	WXS	Illumina HiSeq	Phase_I	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1146	-		all_hematologic(541;0.224)	226			Ig-like C2-type 3.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.677G>A	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595320	0.86953	.	.	ENSG00000113721	ENST00000261799	T	0.13307	2.6	5.93	5.93	0.95920	Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000040	T	0.22627	0.0546	L	0.33753	1.03	0.33579	D	0.599595	B;D;D	0.76494	0.134;0.995;0.999	B;P;P	0.58210	0.015;0.835;0.813	T	0.06807	-1.0806	10	0.56958	D	0.05	.	14.4844	0.67606	0.0:0.9302:0.0:0.0698	.	226;226;226	B5A957;A8KAM8;P09619	.;.;PGFRB_HUMAN	H	226	ENSP00000261799:R226H	ENSP00000261799:R226H	R	-	2	0	PDGFRB	149493719	0.996000	0.38824	1.000000	0.80357	0.962000	0.63368	2.085000	0.41634	2.814000	0.96858	0.563000	0.77884	CGC		0.542	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	0	NM_002609		5:149513526
NPC1	4864	broad.mit.edu	37	18	21136301	21136301	+	Missense_Mutation	SNP	C	C	T	rs77080672	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr18:21136301C>T	ENST00000269228.5	-	8	1786	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	NPC1_ENST00000412552.2_Missense_Mutation_p.R161Q|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	411					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAGAGGGGCCCGGATGATGAG	0.557													C|||	17	0.00339457	0.0129	0.0	5008	,	,		17227	0.0		0.0	False		,,,				2504	0.0					ENST00000269228.5		NA																	0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(1231-1233)cGg>cAg		Niemann-Pick disease, type C1		C	GLN/ARG	26,4380	33.5+/-64.1	0,26,2177	85.0	80.0	82.0		1232	-6.0	0.2	18	dbSNP_131	82	0,8600		0,0,4300	yes	missense	NPC1	NM_000271.4	43	0,26,6477	TT,TC,CC		0.0,0.5901,0.1999	benign	411/1279	21136301	26,12980	2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21136301C>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1232G>A	18.37:g.21136301C>T	ENSP00000269228:p.Arg411Gln	True	False		Somatic	0				NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.R161Q	p.R411Q	NM_000271.4	NP_000262.2	WXS	Illumina HiSeq	Phase_I	O15118	NPC1_HUMAN			8	1786	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		411					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.1232G>A	CCDS11878.1	5	0.0022893772893772895	4	0.008130081300813009	0	0.0	1	0.0017482517482517483	0	0.0	C	10.60	1.395669	0.25205	0.005901	0.0	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.88431	-2.38;-2.38	5.45	-6.01	0.02199	.	0.659654	0.15769	N	0.245512	T	0.66567	0.2802	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.53514	-0.8428	10	0.19147	T	0.46	-6.5932	13.4678	0.61266	0.0:0.1727:0.0923:0.735	.	422;411	Q59GR1;O15118	.;NPC1_HUMAN	Q	411;161;256	ENSP00000269228:R411Q;ENSP00000408606:R161Q	ENSP00000269228:R411Q	R	-	2	0	NPC1	19390299	0.040000	0.19996	0.217000	0.23759	0.982000	0.71751	0.001000	0.13038	-1.632000	0.01541	-0.137000	0.14449	CGG		0.557	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	0	NM_000271		18:21136301
RNF213	57674	broad.mit.edu	37	17	78282819	78282819	+	Splice_Site	SNP	A	A	T	rs143170125		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:78282819A>T	ENST00000582970.1	+	14	2646	c.2503A>T	c.(2503-2505)Att>Ttt	p.I835F	RNF213_ENST00000508628.2_Splice_Site_p.I884F|RNF213_ENST00000319921.4_Splice_Site_p.I835F|RNF213_ENST00000456466.1_Splice_Site_p.I835F	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	835					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCGGGGCAGGATTCCCGAGGA	0.478																																						ENST00000582970.1		NA																	0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(2503-2505)Att>Ttt		ring finger protein 213							107.0	104.0	105.0					17																	78282819		2203	4300	6503	SO:0001630	splice_region_variant	57674							g.chr17:78282819A>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2502-1A>T	17.37:g.78282819A>T		False	False		Somatic	0				RNF213_ENST00000508628.2_Splice_Site_p.I884F|RNF213_ENST00000319921.4_Splice_Site_p.I835F|RNF213_ENST00000456466.1_Splice_Site_p.I835F	p.I835F	NM_001256071.1	NP_001243000.1	WXS	Illumina HiSeq	Phase_I	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		14	2646	+	all_neural(118;0.0538)		835					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Splice_Site	SNP	ENST00000582970.1	37	c.2503A>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.404440	0.25378	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.13538	2.58;2.58	5.38	-4.18	0.03846	.	0.582430	0.16075	N	0.230818	T	0.22551	0.0544	L	0.60455	1.87	0.09310	N	1	D;D	0.67145	0.993;0.996	P;D	0.65010	0.878;0.931	T	0.04467	-1.0949	10	0.62326	D	0.03	-8.6268	7.2259	0.26016	0.2421:0.2827:0.4752:0.0	.	835;835	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	F	835;884;835;835	ENSP00000392123:I835F;ENSP00000324392:I835F	ENSP00000324392:I835F	I	+	1	0	RNF213	75897414	0.390000	0.25213	0.000000	0.03702	0.004000	0.04260	0.107000	0.15375	-0.398000	0.07679	0.533000	0.62120	ATT		0.478	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	0	NM_020914	Missense_Mutation	17:78282819
PTCHD2	57540	broad.mit.edu	37	1	11596541	11596541	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:11596541C>T	ENST00000294484.6	+	21	4115	c.3977C>T	c.(3976-3978)aCg>aTg	p.T1326M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.T1326M|PTCHD2_ENST00000304391.6_Silent_p.H212H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1326					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCACTCAACACGGGCGTGTCC	0.607																																						ENST00000294484.6		NA																	0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(3976-3978)aCg>aTg		patched domain containing 2							97.0	101.0	100.0					1																	11596541		2199	4298	6497	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11596541C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3977C>T	1.37:g.11596541C>T	ENSP00000294484:p.Thr1326Met	True	False		Somatic	0				PTCHD2_ENST00000304391.6_Silent_p.H212H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.T1326M	p.T1326M	NM_020780.1	NP_065831.1	WXS	Illumina HiSeq	Phase_I	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	21	4115	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1326					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.3977C>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236822	0.79800	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.91180	-2.8;-1.95	4.78	4.78	0.61160	Membrane transport protein, MMPL type (1);	0.000000	0.85682	D	0.000000	D	0.93439	0.7907	L	0.55834	1.745	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.91570	0.5271	10	0.22109	T	0.4	-9.8263	16.8332	0.85950	0.0:1.0:0.0:0.0	.	1326	Q9P2K9	PTHD2_HUMAN	M	1326	ENSP00000294484:T1326M;ENSP00000374226:T1326M	ENSP00000294484:T1326M	T	+	2	0	PTCHD2	11519128	1.000000	0.71417	0.967000	0.41034	0.979000	0.70002	4.789000	0.62446	2.214000	0.71695	0.561000	0.74099	ACG		0.607	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	0	XM_052561		1:11596541
APBB1	322	broad.mit.edu	37	11	6432332	6432332	+	Silent	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr11:6432332C>T	ENST00000609360.1	-	2	345	c.246G>A	c.(244-246)acG>acA	p.T82T	APBB1_ENST00000311051.3_Silent_p.T82T|APBB1_ENST00000389906.2_Silent_p.T82T|APBB1_ENST00000299402.6_Silent_p.T82T	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	82					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CACGGTGGGCCGTGGCGGCCC	0.667																																					GBM(147;1810 2556 5672 39622)	ENST00000609360.1		NA																	0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(244-246)acG>acA		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							78.0	93.0	88.0					11																	6432332		2201	4296	6497	SO:0001819	synonymous_variant	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432332C>T	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.246G>A	11.37:g.6432332C>T		False	False		Somatic	0				APBB1_ENST00000311051.3_Silent_p.T82T|APBB1_ENST00000389906.2_Silent_p.T82T|APBB1_ENST00000299402.6_Silent_p.T82T	p.T82T	NM_001164.3	NP_001155.1	WXS	Illumina HiSeq	Phase_I	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	345	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	NA					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	ENST00000609360.1	37	c.246G>A																																																																																					0.667	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	0	NM_001164		11:6432332
KLK2	3817	broad.mit.edu	37	19	51378013	51378013	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:51378013G>T	ENST00000325321.3	+	2	308	c.83G>T	c.(82-84)gGc>gTc	p.G28V	KLK2_ENST00000597509.1_3'UTR|KLK2_ENST00000391810.2_Intron|KLK2_ENST00000358049.4_Missense_Mutation_p.G28V|AC037199.1_ENST00000594218.1_Missense_Mutation_p.P10T			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	28	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		ATTGTGGGAGGCTGGGAGTGT	0.622			T	ETV4	prostate																																	ENST00000325321.3		NA		Dom	yes		19	19q13.41	3817	T	kallikrein-related peptidase 2			E	ETV4		prostate	KLK2/ETV1(3)|KLK2/ETV4(2)	0				large_intestine(3)|lung(6)|ovary(1)|skin(1)	11						c.(82-84)gGc>gTc		kallikrein-related peptidase 2							84.0	67.0	73.0					19																	51378013		2203	4300	6503	SO:0001583	missense	3817				proteolysis		serine-type endopeptidase activity	g.chr19:51378013G>T	M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.83G>T	19.37:g.51378013G>T	ENSP00000313581:p.Gly28Val	False	False		Somatic	0				KLK2_ENST00000391810.2_Intron|KLK2_ENST00000358049.4_Missense_Mutation_p.G28V|AC037199.1_ENST00000594218.1_Missense_Mutation_p.P10T|KLK2_ENST00000597509.1_3'UTR	p.G28V			WXS	Illumina HiSeq	Phase_I	P20151	KLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)	2	308	+		all_neural(266;0.026)	28			Peptidase S1.		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	ENST00000325321.3	37	c.83G>T	CCDS12808.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280438	0.59758	.	.	ENSG00000167751	ENST00000325321;ENST00000358049	T;T	0.61392	0.11;0.11	2.46	2.46	0.29980	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.35646	N	0.003067	T	0.81163	0.4765	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85452	0.1161	10	0.87932	D	0	.	11.0429	0.47842	0.0:0.0:1.0:0.0	.	28;28	P20151-2;P20151	.;KLK2_HUMAN	V	28	ENSP00000313581:G28V;ENSP00000350748:G28V	ENSP00000313581:G28V	G	+	2	0	KLK2	56069825	0.999000	0.42202	0.104000	0.21259	0.171000	0.22731	3.232000	0.51302	1.306000	0.44926	0.455000	0.32223	GGC		0.622	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	0	NM_005551.3		19:51378013
TNRC18	84629	broad.mit.edu	37	7	5410118	5410118	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:5410118C>A	ENST00000430969.1	-	11	4455	c.4107G>T	c.(4105-4107)gaG>gaT	p.E1369D	TNRC18_ENST00000399537.4_Missense_Mutation_p.E1369D	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1369							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTCCAGCTTCTCCAAGGCCT	0.662																																						ENST00000399537.4		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(4105-4107)gaG>gaT		trinucleotide repeat containing 18							18.0	18.0	18.0					7																	5410118		2042	4191	6233	SO:0001583	missense	84629						DNA binding	g.chr7:5410118C>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4107G>T	7.37:g.5410118C>A	ENSP00000395538:p.Glu1369Asp	False	False		Somatic	0				TNRC18_ENST00000430969.1_Missense_Mutation_p.E1369D	p.E1369D			WXS	Illumina HiSeq	Phase_I	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	11	4455	-		Ovarian(82;0.142)	1369					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.4107G>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	8.565	0.878582	0.17395	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.12039	2.72;2.72	4.72	3.84	0.44239	.	0.000000	0.33916	N	0.004428	T	0.16769	0.0403	M	0.67953	2.075	0.30783	N	0.741791	P	0.50528	0.936	B	0.42462	0.388	T	0.10683	-1.0619	10	0.37606	T	0.19	.	11.0649	0.47970	0.0:0.9125:0.0:0.0875	.	1369	O15417	TNC18_HUMAN	D	1369;1369;424;424	ENSP00000382452:E1369D;ENSP00000395538:E1369D	ENSP00000330383:E424D	E	-	3	2	TNRC18	5376644	0.974000	0.33945	0.861000	0.33841	0.317000	0.28152	1.132000	0.31418	0.979000	0.38497	0.313000	0.20887	GAG		0.662	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0			7:5410118
TNFAIP8L2	79626	broad.mit.edu	37	1	151131265	151131265	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:151131265T>C	ENST00000368910.3	+	2	218	c.92T>C	c.(91-93)aTa>aCa	p.I31T		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	31					innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)				lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATCTCTTCATAGATGAGACA	0.567																																						ENST00000368910.3		NA																	0				lung(1)|skin(2)	3						c.(91-93)aTa>aCa		tumor necrosis factor, alpha-induced protein 8-like 2							69.0	67.0	68.0					1																	151131265		2203	4300	6503	SO:0001583	missense	79626				innate immune response			g.chr1:151131265T>C	BC063014	CCDS985.1	1q21.2	2008-02-05			ENSG00000163154	ENSG00000163154			26277	protein-coding gene	gene with protein product		612112					Standard	NM_024575		Approved	FLJ23467	uc001ewx.2	Q6P589	OTTHUMG00000012259	ENST00000368910.3:c.92T>C	1.37:g.151131265T>C	ENSP00000357906:p.Ile31Thr	False	False		Somatic	0					p.I31T	NM_024575.4	NP_078851.2	WXS	Illumina HiSeq	Phase_I	Q6P589	TP8L2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	218	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		31					Q6I9Y0|Q9H2H7|Q9H5G2	Missense_Mutation	SNP	ENST00000368910.3	37	c.92T>C	CCDS985.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971377	0.53614	.	.	ENSG00000163154	ENST00000368910	T	0.38240	1.15	5.67	4.55	0.56014	.	0.154981	0.56097	D	0.000023	T	0.24967	0.0606	M	0.62209	1.925	0.58432	D	0.999997	B	0.21147	0.052	B	0.32677	0.15	T	0.12243	-1.0555	10	0.66056	D	0.02	-0.0065	10.7543	0.46228	0.0:0.0756:0.0:0.9244	.	31	Q6P589	TP8L2_HUMAN	T	31	ENSP00000357906:I31T	ENSP00000357906:I31T	I	+	2	0	TNFAIP8L2	149397889	1.000000	0.71417	0.396000	0.26296	0.981000	0.71138	6.301000	0.72782	0.979000	0.38497	0.533000	0.62120	ATA		0.567	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034069.2	0	NM_024575		1:151131265
KIAA0226L	80183	broad.mit.edu	37	13	46946268	46946268	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr13:46946268C>T	ENST00000429979.1	-	3	947	c.343G>A	c.(343-345)Gct>Act	p.A115T	KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A48T|KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A115T|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A115T|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A115T|KIAA0226L_ENST00000480935.1_5'UTR|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A115T	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	115	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TGGGGAGAAGCGCTGCCAACG	0.582																																						ENST00000429979.1		NA																	0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(343-345)Gct>Act		KIAA0226-like							84.0	82.0	83.0					13																	46946268		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46946268C>T	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.343G>A	13.37:g.46946268C>T	ENSP00000396935:p.Ala115Thr	False	False		Somatic	0				KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A48T|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A115T|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A115T|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A115T|KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A115T|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000534925.1_5'UTR	p.A115T	NM_025113.2	NP_079389.2	WXS	Illumina HiSeq	Phase_I	Q9H714	CM018_HUMAN			3	947	-			115			Ser-rich.		A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.343G>A	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672214	0.29693	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000439642	T;T;T;T;T;T;T	0.46451	0.87;0.91;0.87;0.89;0.91;0.87;0.88	4.94	-0.463	0.12164	.	0.910915	0.09290	N	0.822445	T	0.18841	0.0452	N	0.22421	0.69	0.09310	N	1	P;B;B;B;B	0.37914	0.611;0.164;0.102;0.164;0.164	B;B;B;B;B	0.28465	0.09;0.042;0.012;0.026;0.042	T	0.11767	-1.0574	10	0.31617	T	0.26	0.1552	0.5212	0.00612	0.3271:0.2098:0.1129:0.3501	.	115;115;115;48;115	E7EMA2;Q9H714-1;Q9H714;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.	T	115;115;115;48;115;115;115	ENSP00000368057:A115T;ENSP00000396935:A115T;ENSP00000368074:A115T;ENSP00000368061:A48T;ENSP00000374558:A115T;ENSP00000368064:A115T;ENSP00000414579:A115T	ENSP00000368057:A115T	A	-	1	0	KIAA0226L	45844269	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.098000	0.11024	-0.348000	0.08286	-0.137000	0.14449	GCT		0.582	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	0	NM_025113		13:46946268
COX10-AS1	100874058	broad.mit.edu	37	17	13928494	13928494	+	RNA	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:13928494C>T	ENST00000602743.1	-	0	224									COX10 antisense RNA 1																		CCATGCTGCCCCTAGTCCTGG	0.612																																						ENST00000602743.1		NA																	0					NA																																														0							g.chr17:13928494C>T			17p12	2013-05-22	2012-08-15	2010-11-25	ENSG00000236088	ENSG00000236088		"""Long non-coding RNAs"""	38873	non-coding RNA	RNA, long non-coding			"""COX10 antisense RNA (non-protein coding)"", ""COX10 antisense RNA 1 (non-protein coding)"""	COX10AS, COX10-AS			Standard	NR_049718		Approved		uc002goe.1		OTTHUMG00000058771		17.37:g.13928494C>T		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	224	-			NA						RNA	SNP	ENST00000602743.1	37																																																																																						0.612	COX10-AS1-005	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000467585.1	0			17:13928494
PCDHB16	57717	broad.mit.edu	37	5	140564033	140564033	+	Silent	SNP	C	C	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:140564033C>A	ENST00000361016.2	+	1	3054	c.1899C>A	c.(1897-1899)cgC>cgA	p.R633R		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCAGCCA	0.692																																						ENST00000361016.2		NA																	0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1897-1899)cgC>cgA									25.0	26.0	26.0					5																	140564033		2060	4023	6083	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140564033C>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1899C>A	5.37:g.140564033C>A		True	False		Somatic	0					p.R633R	NM_020957.1	NP_066008.1	WXS	Illumina HiSeq	Phase_I	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3054	+			633			Cadherin 6.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1899C>A	CCDS4251.1																																																																																				0.692	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	0	NM_020957		5:140564033
GFAP	2670	broad.mit.edu	37	17	42992592	42992592	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:42992592C>T	ENST00000253408.5	-	1	328	c.263G>A	c.(262-264)cGc>cAc	p.R88H	GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000435360.2_Missense_Mutation_p.R88H|GFAP_ENST00000586793.1_Missense_Mutation_p.R88H|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	88	Coil 1A.|Rod.		R -> C (in ALEXD; dbSNP:rs61622935). {ECO:0000269|PubMed:11567214, ECO:0000269|PubMed:12034785, ECO:0000269|PubMed:15732097, ECO:0000269|PubMed:17894839, ECO:0000269|PubMed:18079314, ECO:0000269|PubMed:23364391}.|R -> S (in ALEXD). {ECO:0000269|PubMed:11567214, ECO:0000269|PubMed:23364391}.		astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTCCAGGAAGCGAACCTTCTC	0.607																																						ENST00000253408.5		NA																	0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(262-264)cGc>cAc		glial fibrillary acidic protein							84.0	68.0	74.0					17																	42992592		2203	4300	6503	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42992592C>T	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.263G>A	17.37:g.42992592C>T	ENSP00000253408:p.Arg88His	False	False		Somatic	0				GFAP_ENST00000435360.2_Missense_Mutation_p.R88H|GFAP_ENST00000586793.1_Missense_Mutation_p.R88H|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR	p.R88H	NM_002055.4	NP_002046.1	WXS	Illumina HiSeq	Phase_I	P14136	GFAP_HUMAN			1	328	-		Prostate(33;0.0959)	88		R -> C (in ALEXD; dbSNP:rs61622935).|R -> S (in ALEXD).	Coil 1A.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.263G>A	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843111	0.71488	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360;ENST00000376990	D;D;D	0.91843	-2.92;-2.92;-2.92	4.69	4.69	0.59074	Filament (1);	0.000000	0.85682	D	0.000000	D	0.94958	0.8369	L	0.58810	1.83	0.80722	D	1	D;P	0.89917	1.0;0.797	D;P	0.69824	0.966;0.499	D	0.95295	0.8398	10	0.72032	D	0.01	.	17.7736	0.88500	0.0:1.0:0.0:0.0	.	88;88	E9PAX3;P14136	.;GFAP_HUMAN	H	88;63;88;88	ENSP00000253408:R88H;ENSP00000403962:R88H;ENSP00000366189:R88H	ENSP00000253408:R88H	R	-	2	0	GFAP	40348118	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.609000	0.82925	2.609000	0.88269	0.462000	0.41574	CGC		0.607	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	0	NM_002055		17:42992592
PRKCD	5580	broad.mit.edu	37	3	53218900	53218900	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:53218900G>T	ENST00000394729.2	+	9	1126	c.798G>T	c.(796-798)atG>atT	p.M266I	PRKCD_ENST00000330452.3_Missense_Mutation_p.M266I	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	266					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	ACTGCGGCATGAATGTGCACC	0.597																																						ENST00000394729.2		NA																	0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(796-798)atG>atT		protein kinase C, delta							73.0	71.0	72.0					3																	53218900		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53218900G>T		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.798G>T	3.37:g.53218900G>T	ENSP00000378217:p.Met266Ile	False	False		Somatic	0				PRKCD_ENST00000330452.3_Missense_Mutation_p.M266I	p.M266I	NM_212539.1	NP_997704.1	WXS	Illumina HiSeq	Phase_I	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	9	1126	+		Ovarian(412;0.0728)	266					B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.798G>T	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904970	0.72868	.	.	ENSG00000163932	ENST00000394729;ENST00000330452;ENST00000464818	D;D;D	0.84298	-1.83;-1.83;-1.83	5.91	5.91	0.95273	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.84388	0.5461	L	0.29908	0.895	0.80722	D	1	B;B	0.29188	0.236;0.05	B;B	0.41174	0.349;0.093	T	0.82424	-0.0464	10	0.59425	D	0.04	.	19.07	0.93130	0.0:0.0:1.0:0.0	.	43;266	B0KZ81;Q05655	.;KPCD_HUMAN	I	266;266;194	ENSP00000378217:M266I;ENSP00000331602:M266I;ENSP00000419629:M194I	ENSP00000331602:M266I	M	+	3	0	PRKCD	53193940	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	ATG		0.597	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1	0			3:53218900
C9orf66	157983	broad.mit.edu	37	9	215392	215392	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:215392C>T	ENST00000382387.2	-	1	501	c.5G>A	c.(4-6)aGa>aAa	p.R2K	DOCK8_ENST00000453981.1_Intron|DOCK8_ENST00000432829.2_Intron	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	2										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CACGGAGTGTCTCATAAACGG	0.597																																						ENST00000382387.2		NA																	0				central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4						c.(4-6)aGa>aAa		chromosome 9 open reading frame 66							25.0	27.0	26.0					9																	215392		2179	4267	6446	SO:0001583	missense	157983							g.chr9:215392C>T	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.5G>A	9.37:g.215392C>T	ENSP00000371824:p.Arg2Lys	False	False		Somatic	0				DOCK8_ENST00000453981.1_Intron|DOCK8_ENST00000432829.2_Intron	p.R2K	NM_152569.2	NP_689782.2	WXS	Illumina HiSeq	Phase_I	Q5T8R8	CI066_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	501	-	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	2					Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	c.5G>A	CCDS6439.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237657	0.22711	.	.	ENSG00000183784	ENST00000382387	T	0.21932	1.98	3.02	2.08	0.27032	.	.	.	.	.	T	0.11537	0.0281	N	0.08118	0	0.19300	N	0.99997	B	0.32573	0.376	B	0.37267	0.245	T	0.24870	-1.0148	9	0.87932	D	0	.	5.389	0.16234	0.0:0.8357:0.0:0.1643	.	2	Q5T8R8	CI066_HUMAN	K	2	ENSP00000371824:R2K	ENSP00000371824:R2K	R	-	2	0	C9orf66	205392	0.021000	0.18746	0.001000	0.08648	0.032000	0.12392	0.775000	0.26689	0.806000	0.34183	0.462000	0.41574	AGA		0.597	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	0	NM_152569		9:215392
TRADD	8717	broad.mit.edu	37	16	67189164	67189164	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:67189164G>T	ENST00000345057.4	-	4	931	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	TRADD_ENST00000486556.1_Missense_Mutation_p.L95M|TRADD_ENST00000566104.1_5'Flank	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	155					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCATCCTCCAGCTCAGCCAGT	0.692																																						ENST00000345057.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11						c.(463-465)Ctg>Atg		TNFRSF1A-associated via death domain							11.0	12.0	12.0					16																	67189164		2191	4292	6483	SO:0001583	missense	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67189164G>T	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.463C>A	16.37:g.67189164G>T	ENSP00000341268:p.Leu155Met	False	False		Somatic	0				TRADD_ENST00000486556.1_Missense_Mutation_p.L95M	p.L155M	NM_003789.3	NP_003780.1	WXS	Illumina HiSeq	Phase_I	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	4	931	-		Ovarian(137;0.0563)	155					B2RDS3|B3KQZ9|Q52NZ1	Missense_Mutation	SNP	ENST00000345057.4	37	c.463C>A	CCDS10829.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372993	0.24857	.	.	ENSG00000102871	ENST00000345057	.	.	.	5.25	2.14	0.27477	TRADD, N-terminal (4);	0.000000	0.64402	D	0.000002	T	0.67951	0.2948	L	0.61218	1.895	0.40142	D	0.976847	D	0.76494	0.999	D	0.87578	0.998	T	0.67173	-0.5737	9	0.66056	D	0.02	-16.4405	7.1941	0.25843	0.2817:0.0:0.7183:0.0	.	155	Q15628	TRADD_HUMAN	M	155	.	ENSP00000341268:L155M	L	-	1	2	TRADD	65746665	0.997000	0.39634	0.986000	0.45419	0.268000	0.26511	1.890000	0.39728	0.517000	0.28361	0.448000	0.29417	CTG		0.692	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2	0			16:67189164
AQP10	89872	broad.mit.edu	37	1	154296116	154296116	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:154296116C>T	ENST00000324978.3	+	5	581	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	AQP10_ENST00000484864.1_Missense_Mutation_p.R181W|ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	181					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R181W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTGGACAGACGGAACAAGGG	0.612																																						ENST00000484864.1		NA																	2	Substitution - Missense(2)	p.R181W(2)	lung(2)	central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(541-543)Cgg>Tgg		aquaporin 10							140.0	143.0	142.0					1																	154296116		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154296116C>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.541C>T	1.37:g.154296116C>T	ENSP00000318355:p.Arg181Trp	False	False		Somatic	0				AQP10_ENST00000324978.3_Missense_Mutation_p.R181W|AQP10_ENST00000355197.4_3'UTR	p.R181W			WXS	Illumina HiSeq	Phase_I	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	577	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		181					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.541C>T	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894226	0.52121	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.85955	-2.05;-2.05	4.9	1.67	0.24075	Aquaporin-like (2);	0.410133	0.24642	N	0.036791	D	0.90542	0.7036	H	0.95043	3.615	0.09310	N	1	D;D	0.67145	0.996;0.994	P;P	0.59889	0.742;0.865	D	0.84976	0.0885	10	0.66056	D	0.02	.	12.93	0.58282	0.5075:0.4925:0.0:0.0	.	181;181	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	W	181	ENSP00000318355:R181W;ENSP00000420341:R181W	ENSP00000318355:R181W	R	+	1	2	AQP10	152562740	0.003000	0.15002	0.109000	0.21407	0.949000	0.60115	0.450000	0.21762	0.639000	0.30564	0.555000	0.69702	CGG		0.612	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	0	NM_080429		1:154296116
BACH2	60468	broad.mit.edu	37	6	90660535	90660535	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:90660535G>A	ENST00000257749.4	-	7	1997	c.1290C>T	c.(1288-1290)agC>agT	p.S430S	BACH2_ENST00000343122.3_Silent_p.S430S|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Silent_p.S430S|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	430						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGAAGATCACGCTCCTCCGGT	0.592																																						ENST00000257749.4		NA																	0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(1288-1290)agC>agT		BTB and CNC homology 1, basic leucine zipper transcription factor 2							34.0	36.0	35.0					6																	90660535		2203	4298	6501	SO:0001819	synonymous_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660535G>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1290C>T	6.37:g.90660535G>A		False	False		Somatic	0				BACH2_ENST00000537989.1_Silent_p.S430S|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Silent_p.S430S	p.S430S	NM_021813.2	NP_068585.1	WXS	Illumina HiSeq	Phase_I	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	1997	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	430					E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	c.1290C>T	CCDS5026.1																																																																																				0.592	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	0	NM_021813		6:90660535
GAA	2548	broad.mit.edu	37	17	78086379	78086379	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:78086379C>T	ENST00000302262.3	+	13	1976	c.1757C>T	c.(1756-1758)gCg>gTg	p.A586V	GAA_ENST00000390015.3_Missense_Mutation_p.A586V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	586					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CACCCCAGGGCGCTGGTGAAG	0.682																																						ENST00000302262.3		NA																	0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1756-1758)gCg>gTg		glucosidase, alpha; acid	Acarbose(DB00284)						25.0	27.0	26.0					17																	78086379		2203	4299	6502	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78086379C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1757C>T	17.37:g.78086379C>T	ENSP00000305692:p.Ala586Val	True	False		Somatic	0				GAA_ENST00000390015.3_Missense_Mutation_p.A586V	p.A586V	NM_000152.3	NP_000143.2	WXS	Illumina HiSeq	Phase_I	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		13	1976	+	all_neural(118;0.117)		586					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.1757C>T	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823727	0.71143	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.92348	-3.02;-3.02	4.56	4.56	0.56223	Glycoside hydrolase, superfamily (1);	0.113983	0.64402	D	0.000017	D	0.95746	0.8616	M	0.83692	2.655	0.58432	D	0.999996	D	0.67145	0.996	D	0.64321	0.924	D	0.96539	0.9399	10	0.87932	D	0	-31.9547	16.0715	0.80940	0.0:1.0:0.0:0.0	.	586	P10253	LYAG_HUMAN	V	586	ENSP00000305692:A586V;ENSP00000374665:A586V	ENSP00000305692:A586V	A	+	2	0	GAA	75700974	1.000000	0.71417	0.964000	0.40570	0.013000	0.08279	7.628000	0.83189	2.068000	0.61886	0.561000	0.74099	GCG		0.682	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1	0			17:78086379
UMOD	7369	broad.mit.edu	37	16	20357476	20357476	+	Missense_Mutation	SNP	C	C	T	rs141355380		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:20357476C>T	ENST00000570689.1	-	5	1300	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	UMOD_ENST00000302509.4_Missense_Mutation_p.R385Q|UMOD_ENST00000396142.2_Missense_Mutation_p.R385Q|UMOD_ENST00000396134.2_Missense_Mutation_p.R418Q|UMOD_ENST00000396138.4_Missense_Mutation_p.R434Q|UMOD_ENST00000424589.1_Missense_Mutation_p.R418Q			P07911	UROM_HUMAN	uromodulin	385	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGGCCATCCCGGGCTGGGGT	0.587																																						ENST00000396134.2		NA																	0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1252-1254)cGg>cAg		uromodulin		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	36.0	38.0	37.0		1154,1154	1.2	0.1	16	dbSNP_134	37	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	UMOD	NM_001008389.1,NM_003361.2	43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	385/641,385/641	20357476	2,13004	2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20357476C>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1154G>A	16.37:g.20357476C>T	ENSP00000460548:p.Arg385Gln	True	False		Somatic	0				UMOD_ENST00000302509.4_Missense_Mutation_p.R385Q|UMOD_ENST00000570689.1_Missense_Mutation_p.R385Q|UMOD_ENST00000424589.1_Missense_Mutation_p.R418Q|UMOD_ENST00000396142.2_Missense_Mutation_p.R385Q|UMOD_ENST00000396138.4_Missense_Mutation_p.R434Q	p.R418Q	NM_001278614.1	NP_001265543.1	WXS	Illumina HiSeq	Phase_I	P07911	UROM_HUMAN			6	1376	-			385			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1253G>A	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.351257	0.01256	0.0	2.33E-4	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	4.85	1.24	0.21308	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.284901	0.25117	N	0.033014	T	0.49474	0.1559	N	0.03050	-0.425	0.09310	N	0.999999	B;B	0.16603	0.018;0.001	B;B	0.18263	0.021;0.01	T	0.45308	-0.9270	10	0.02654	T	1	-14.2103	6.7516	0.23489	0.0:0.4899:0.0:0.5101	.	418;385	E9PEA4;P07911	.;UROM_HUMAN	Q	385;418;418;385;363;385	ENSP00000379438:R418Q;ENSP00000416346:R418Q;ENSP00000306279:R385Q;ENSP00000379446:R385Q	ENSP00000306279:R385Q	R	-	2	0	UMOD	20264977	0.025000	0.19082	0.120000	0.21714	0.279000	0.26890	-0.272000	0.08560	0.336000	0.23639	-0.424000	0.05967	CGG		0.587	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1	0			16:20357476
PDZRN3	23024	broad.mit.edu	37	3	73433778	73433778	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:73433778G>A	ENST00000263666.4	-	10	2053	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304C|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	647					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGGAGCTCGCGGAAGCGCTCG	0.662																																						ENST00000263666.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1939-1941)Cgc>Tgc		PDZ domain containing ring finger 3							55.0	61.0	59.0					3																	73433778		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433778G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1939C>T	3.37:g.73433778G>A	ENSP00000263666:p.Arg647Cys	False	False		Somatic	0				PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304C|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369C	p.R647C	NM_015009.1	NP_055824.1	WXS	Illumina HiSeq	Phase_I	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2053	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	647					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1939C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438370	0.62955	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.13901	2.55;3.25;3.14;3.14;3.26;3.21	4.28	4.28	0.50868	.	0.058403	0.64402	D	0.000002	T	0.35038	0.0918	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.76494	0.997;0.997;0.999;0.997	D;P;P;P	0.64321	0.924;0.739;0.901;0.739	T	0.24512	-1.0158	10	0.87932	D	0	.	16.5215	0.84318	0.0:0.0:1.0:0.0	.	369;364;364;647	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	C	647;369;304;304;364;345	ENSP00000263666:R647C;ENSP00000442026:R369C;ENSP00000418168:R304C;ENSP00000418484:R304C;ENSP00000418624:R364C;ENSP00000419250:R345C	ENSP00000263666:R647C	R	-	1	0	PDZRN3	73516468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.857000	0.62939	2.212000	0.71576	0.655000	0.94253	CGC		0.662	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	0	XM_041363		3:73433778
PDCD4	27250	broad.mit.edu	37	10	112649342	112649342	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr10:112649342A>G	ENST00000280154.7	+	7	1103	c.829A>G	c.(829-831)Acc>Gcc	p.T277A	PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000393104.2_Missense_Mutation_p.T266A	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	277	MI 1. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TTTATGTAATACCTATATTGA	0.313																																					Ovarian(115;1498 1603 9363 40056 40885)	ENST00000393104.2		NA																	0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(796-798)Acc>Gcc		programmed cell death 4 (neoplastic transformation inhibitor)							166.0	188.0	181.0					10																	112649342		2203	4300	6503	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112649342A>G	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.829A>G	10.37:g.112649342A>G	ENSP00000280154:p.Thr277Ala	False	False		Somatic	0				PDCD4_ENST00000280154.7_Missense_Mutation_p.T277A|PDCD4_ENST00000481353.1_3'UTR	p.T266A	NM_145341.3	NP_663314.1	WXS	Illumina HiSeq	Phase_I	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	8	1156	+		Breast(234;0.0848)|Lung NSC(174;0.238)	277			MI 1.		B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.796A>G	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653401	0.29425	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.40225	1.04;1.04	5.79	4.65	0.58169	Initiation factor eIF-4 gamma, MA3 (1);Armadillo-type fold (1);	0.131375	0.64402	D	0.000002	T	0.20170	0.0485	N	0.05012	-0.13	0.58432	D	0.999993	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.06303	-1.0834	10	0.07990	T	0.79	-2.3734	12.243	0.54553	0.8724:0.0:0.0:0.1276	.	263;277;266	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	A	277;266	ENSP00000280154:T277A;ENSP00000376816:T266A	ENSP00000280154:T277A	T	+	1	0	PDCD4	112639332	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.923000	0.70045	1.001000	0.39076	0.402000	0.26972	ACC		0.313	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	0	NM_014456		10:112649342
VGLL1	51442	broad.mit.edu	37	X	135618242	135618242	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:135618242G>A	ENST00000370634.3	+	2	233	c.63G>A	c.(61-63)acG>acA	p.T21T		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.T21T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CTATAAAGACGGAATGGAATT	0.493																																						ENST00000370634.3		NA																	1	Substitution - coding silent(1)	p.T21T(1)	lung(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(61-63)acG>acA		vestigial like 1 (Drosophila)							101.0	96.0	98.0					X																	135618242		2203	4300	6503	SO:0001819	synonymous_variant	51442				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	g.chrX:135618242G>A	AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.63G>A	X.37:g.135618242G>A		True	False		Somatic	0					p.T21T	NM_016267.3	NP_057351.1	WXS	Illumina HiSeq	Phase_I	Q99990	VGLL1_HUMAN			2	233	+	Acute lymphoblastic leukemia(192;0.000127)		21					Q5H915	Silent	SNP	ENST00000370634.3	37	c.63G>A	CCDS14658.1																																																																																				0.493	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	0	NM_016267		X:135618242
NOL8	55035	broad.mit.edu	37	9	95077968	95077968	+	Silent	SNP	C	C	T	rs373089019		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:95077968C>T	ENST00000535387.1	-	6	938	c.939G>A	c.(937-939)gcG>gcA	p.A313A	NOL8_ENST00000542053.1_Silent_p.A245A|NOL8_ENST00000358855.4_Silent_p.A245A|NOL8_ENST00000545558.1_Silent_p.A313A|NOL8_ENST00000442668.2_Silent_p.A313A					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTTCCTCTTTCGCAATCATCA	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20613	0.0		0.0	False		,,,				2504	0.0					ENST00000545558.1		NA																	0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(937-939)gcG>gcA		nucleolar protein 8		C		1,3715		0,1,1857	56.0	50.0	52.0		939	1.9	0.8	9		52	0,8188		0,0,4094	no	coding-synonymous	NOL8	NM_017948.5		0,1,5951	TT,TC,CC		0.0,0.0269,0.0084		313/1168	95077968	1,11903	1858	4094	5952	SO:0001819	synonymous_variant	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077968C>T	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.939G>A	9.37:g.95077968C>T		True	False		Somatic	0				NOL8_ENST00000542053.1_Silent_p.A245A|NOL8_ENST00000535387.1_Silent_p.A313A|NOL8_ENST00000358855.4_Silent_p.A245A|NOL8_ENST00000442668.2_Silent_p.A313A	p.A313A			WXS	Illumina HiSeq	Phase_I	Q76FK4	NOL8_HUMAN			7	1431	-			313						Silent	SNP	ENST00000535387.1	37	c.939G>A	CCDS47993.1																																																																																				0.368	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	0	NM_017948		9:95077968
IQCH	64799	broad.mit.edu	37	15	67555549	67555549	+	Silent	SNP	C	C	G			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:67555549C>G	ENST00000335894.4	+	3	330	c.264C>G	c.(262-264)tcC>tcG	p.S88S	IQCH_ENST00000512104.1_Silent_p.S88S|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	88										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCCAGGCTTCCAAATGGTAAG	0.313																																						ENST00000335894.4		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(262-264)tcC>tcG		IQ motif containing H							53.0	52.0	52.0					15																	67555549		2201	4293	6494	SO:0001819	synonymous_variant	64799							g.chr15:67555549C>G	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.264C>G	15.37:g.67555549C>G		True	False		Somatic	0				IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000512104.1_Silent_p.S88S|IQCH_ENST00000546225.1_5'UTR	p.S88S	NM_001031715.2	NP_001026885	WXS	Illumina HiSeq	Phase_I	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	3	330	+			88					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.264C>G	CCDS32273.1																																																																																				0.313	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	0	NM_022784		15:67555549
BRD2	6046	broad.mit.edu	37	6	32944179	32944179	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:32944179C>T	ENST00000374825.4	+	6	2464	c.763C>T	c.(763-765)Cac>Tac	p.H255Y	BRD2_ENST00000449085.2_Missense_Mutation_p.H208Y|BRD2_ENST00000443797.2_Missense_Mutation_p.H135Y|BRD2_ENST00000395287.1_Missense_Mutation_p.H255Y|BRD2_ENST00000374831.4_Missense_Mutation_p.H255Y|BRD2_ENST00000395289.2_Missense_Mutation_p.H255Y	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	255					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						CAAGTCCTTGCACTCTGCTGG	0.562																																						ENST00000395289.2		NA																	0				central_nervous_system(3)|stomach(2)	5						c.(763-765)Cac>Tac		bromodomain containing 2							119.0	110.0	113.0					6																	32944179		1511	2709	4220	SO:0001583	missense	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32944179C>T	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.763C>T	6.37:g.32944179C>T	ENSP00000363958:p.His255Tyr	False	False		Somatic	0				BRD2_ENST00000443797.2_Missense_Mutation_p.H135Y|BRD2_ENST00000374831.4_Missense_Mutation_p.H255Y|BRD2_ENST00000449085.2_Missense_Mutation_p.H208Y|BRD2_ENST00000374825.4_Missense_Mutation_p.H255Y|BRD2_ENST00000395287.1_Missense_Mutation_p.H255Y	p.H255Y			WXS	Illumina HiSeq	Phase_I	P25440	BRD2_HUMAN			6	2364	+			255					A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	c.763C>T	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	C	7.346	0.621976	0.14193	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.07800	3.35;3.35;3.35;3.16;3.35;3.32	5.63	5.63	0.86233	.	0.000000	0.50627	D	0.000111	T	0.09158	0.0226	L	0.55481	1.735	0.58432	D	0.999993	P;P	0.41188	0.741;0.7	P;B	0.45232	0.474;0.082	T	0.01935	-1.1244	10	0.51188	T	0.08	-17.7006	17.5449	0.87858	0.0:1.0:0.0:0.0	.	255;255	A2AAU0;P25440	.;BRD2_HUMAN	Y	255;255;255;135;255;208	ENSP00000363958:H255Y;ENSP00000363964:H255Y;ENSP00000378704:H255Y;ENSP00000413495:H135Y;ENSP00000378702:H255Y;ENSP00000409145:H208Y	ENSP00000363958:H255Y	H	+	1	0	BRD2	33052157	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.175000	0.58263	2.815000	0.96918	0.643000	0.83706	CAC		0.562	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2	0			6:32944179
DOCK2	1794	broad.mit.edu	37	5	169509808	169509808	+	Missense_Mutation	SNP	C	C	A	rs371835495		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:169509808C>A	ENST00000256935.8	+	52	5519	c.5439C>A	c.(5437-5439)agC>agA	p.S1813R	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.S1305R|DOCK2_ENST00000540750.1_Missense_Mutation_p.S874R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1813					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGGCCAGCAAATCGGCTG	0.512																																						ENST00000256935.8		NA																	0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(5437-5439)agC>agA		dedicator of cytokinesis 2							94.0	88.0	90.0					5																	169509808		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169509808C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5439C>A	5.37:g.169509808C>A	ENSP00000256935:p.Ser1813Arg	True	False		Somatic	0				DOCK2_ENST00000520908.1_Missense_Mutation_p.S1305R|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.S874R	p.S1813R	NM_004946.2	NP_004937.1	WXS	Illumina HiSeq	Phase_I	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		52	5519	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1813					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5439C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374649	0.42105	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09350	3.65;3.27;2.99	4.3	4.3	0.51218	.	0.413850	0.25622	N	0.029413	T	0.07098	0.0180	N	0.14661	0.345	0.32612	N	0.5245	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.06338	-1.0832	10	0.37606	T	0.19	.	12.4783	0.55827	0.0:1.0:0.0:0.0	.	1305;369;1813	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	R	1813;1305;874	ENSP00000256935:S1813R;ENSP00000429283:S1305R;ENSP00000438827:S874R	ENSP00000256935:S1813R	S	+	3	2	DOCK2	169442386	1.000000	0.71417	0.998000	0.56505	0.657000	0.38888	3.201000	0.51059	2.407000	0.81776	0.650000	0.86243	AGC		0.512	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	0	NM_004946		5:169509808
SYNE1	23345	broad.mit.edu	37	6	152614868	152614868	+	Missense_Mutation	SNP	C	C	T	rs80265744	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:152614868C>T	ENST00000367255.5	-	95	18468	c.17867G>A	c.(17866-17868)cGc>cAc	p.R5956H	SYNE1_ENST00000423061.1_Missense_Mutation_p.R5885H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R480H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5885H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R5568H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5956H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5956					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)		ATAGAGTGTGCGCTGCTTCTC	0.468										HNSCC(10;0.0054)			C|||	5	0.000998403	0.0008	0.0	5008	,	,		14253	0.004		0.0	False		,,,				2504	0.0					ENST00000367255.5		NA																	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.(17866-17868)cGc>cAc		spectrin repeat containing, nuclear envelope 1							112.0	106.0	108.0					6																	152614868		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.chr6:152614868C>T	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.17867G>A	6.37:g.152614868C>T	ENSP00000356224:p.Arg5956His	False	False	HNSCC(10;0.0054)	Somatic	0				SYNE1_ENST00000423061.1_Missense_Mutation_p.R5885H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R5568H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R480H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5956H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5885H	p.R5956H	NM_182961.3	NP_892006.3	WXS	Illumina HiSeq	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	95	18468	-		Ovarian(120;0.0955)	5956					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.17867G>A	CCDS5236.2	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	0	0.0	C	21.6	4.166008	0.78339	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663;ENST00000537033	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.37	5.37	0.77165	.	0.000000	0.52532	D	0.000064	T	0.51024	0.1650	L	0.57536	1.79	0.46678	D	0.999154	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.74674	0.845;0.964;0.964;0.984	T	0.52403	-0.8580	10	0.62326	D	0.03	.	19.1163	0.93343	0.0:1.0:0.0:0.0	.	371;5956;5956;5885	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	5956;5885;5956;5885;5568;480;131;178	ENSP00000356224:R5956H;ENSP00000396024:R5885H;ENSP00000265368:R5956H;ENSP00000390975:R5885H;ENSP00000341887:R5568H;ENSP00000349276:R480H;ENSP00000437411:R131H	ENSP00000265368:R5956H	R	-	2	0	SYNE1	152656561	0.973000	0.33851	0.987000	0.45799	0.984000	0.73092	2.334000	0.43920	2.488000	0.83962	0.655000	0.94253	CGC		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	0	NM_182961		6:152614868
DKK2	27123	broad.mit.edu	37	4	107845202	107845202	+	Missense_Mutation	SNP	C	C	T	rs539488952		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:107845202C>T	ENST00000285311.3	-	4	1394	c.689G>A	c.(688-690)cGt>cAt	p.R230H	DKK2_ENST00000510463.1_Missense_Mutation_p.R184H|DKK2_ENST00000513208.1_Missense_Mutation_p.R130H	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	230	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.R230H(3)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACAGTCGCAACGCTGGAAAAT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		18840	0.001		0.0	False		,,,				2504	0.0					ENST00000285311.3		NA																	3	Substitution - Missense(3)	p.R230H(3)	large_intestine(2)|prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(688-690)cGt>cAt		dickkopf WNT signaling pathway inhibitor 2							161.0	147.0	152.0					4																	107845202		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107845202C>T	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.689G>A	4.37:g.107845202C>T	ENSP00000285311:p.Arg230His	False	False		Somatic	0				DKK2_ENST00000510463.1_Missense_Mutation_p.R184H|DKK2_ENST00000513208.1_Missense_Mutation_p.R130H	p.R230H	NM_014421.2	NP_055236.1	WXS	Illumina HiSeq	Phase_I	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	4	1394	-		Hepatocellular(203;0.217)	230			DKK-type Cys-2.		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.689G>A	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897895	0.91962	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.57595	0.39;0.52;0.54	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.77051	-0.2731	10	0.59425	D	0.04	-11.8314	19.6876	0.95986	0.0:1.0:0.0:0.0	.	230	Q9UBU2	DKK2_HUMAN	H	230;130;184	ENSP00000285311:R230H;ENSP00000421255:R130H;ENSP00000423797:R184H	ENSP00000285311:R230H	R	-	2	0	DKK2	108064651	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.487000	0.81328	2.657000	0.90304	0.585000	0.79938	CGT		0.488	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4	0			4:107845202
MAGI2	9863	broad.mit.edu	37	7	78636417	78636417	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:78636417C>T	ENST00000354212.4	-	2	660	c.407G>A	c.(406-408)cGc>cAc	p.R136H	MAGI2-AS2_ENST00000411616.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.R136H|MAGI2_ENST00000419488.1_Missense_Mutation_p.R136H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	136	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGCACCGTGCGGAGGTAGAG	0.373																																						ENST00000354212.4		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(406-408)cGc>cAc		membrane associated guanylate kinase, WW and PDZ domain containing 2							149.0	130.0	137.0					7																	78636417		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78636417C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.407G>A	7.37:g.78636417C>T	ENSP00000346151:p.Arg136His	False	False		Somatic	0				MAGI2_ENST00000419488.1_Missense_Mutation_p.R136H|MAGI2_ENST00000522391.1_Missense_Mutation_p.R136H	p.R136H	NM_012301.3	NP_036433.2	WXS	Illumina HiSeq	Phase_I	Q86UL8	MAGI2_HUMAN			2	660	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	136			Guanylate kinase-like.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.407G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367062	0.61513	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.41758	0.99;0.99;0.99	5.29	5.29	0.74685	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	.	.	.	.	T	0.53400	0.1794	L	0.31926	0.97	0.80722	D	1	D;D	0.89917	0.958;1.0	P;D	0.91635	0.493;0.999	T	0.42481	-0.9449	9	0.21540	T	0.41	.	17.9199	0.88963	0.0:1.0:0.0:0.0	.	136;136	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	H	136	ENSP00000405766:R136H;ENSP00000346151:R136H;ENSP00000428389:R136H	ENSP00000346151:R136H	R	-	2	0	MAGI2	78474353	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.683000	0.84093	2.470000	0.83445	0.637000	0.83480	CGC		0.373	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	0	NM_012301		7:78636417
ZCCHC16	340595	broad.mit.edu	37	X	111697971	111697971	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:111697971G>A	ENST00000340433.2	+	1	245	c.15G>A	c.(13-15)acG>acA	p.T5T		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	5							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGAAGTGCACGAAATCATCAT	0.458																																						ENST00000340433.2		NA																	0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(13-15)acG>acA		zinc finger, CCHC domain containing 16							104.0	90.0	95.0					X																	111697971		2203	4300	6503	SO:0001819	synonymous_variant	340595						nucleic acid binding|zinc ion binding	g.chrX:111697971G>A	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.15G>A	X.37:g.111697971G>A		True	False		Somatic	0					p.T5T	NM_001004308.2	NP_001004308.2	WXS	Illumina HiSeq	Phase_I	Q6ZR62	ZCH16_HUMAN			1	245	+			5					B2RPG1	Silent	SNP	ENST00000340433.2	37	c.15G>A	CCDS35369.1																																																																																				0.458	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	0	NM_001004308		X:111697971
PEG3	5178	broad.mit.edu	37	19	57327380	57327380	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:57327380G>A	ENST00000326441.9	-	10	2793	c.2430C>T	c.(2428-2430)ttC>ttT	p.F810F	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.F810F|PEG3_ENST00000593695.1_Silent_p.F684F|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.F686F|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	810					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.F810F(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGATAGCATCGAAGCTCTGAA	0.468																																						ENST00000326441.9		NA																	2	Substitution - coding silent(2)	p.F810F(2)	large_intestine(2)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(2428-2430)ttC>ttT		paternally expressed 3							141.0	134.0	136.0					19																	57327380		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327380G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2430C>T	19.37:g.57327380G>A		False	False		Somatic	0				PEG3_ENST00000593695.1_Silent_p.F684F|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.F810F|PEG3_ENST00000598410.1_Silent_p.F686F|ZIM2_ENST00000599935.1_Intron	p.F810F	NM_006210.2	NP_006201.1	WXS	Illumina HiSeq	Phase_I	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2793	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	810					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.2430C>T	CCDS12948.1																																																																																				0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	0			19:57327380
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C	rs530929455	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:35930362T>C	ENST00000435235.1	+	10	1230	c.798T>C	c.(796-798)taT>taC	p.Y266Y	SEPT7_ENST00000494488.2_Silent_p.Y305Y|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y			Q16181	SEPT7_HUMAN	septin 7	319	Septin-type G.				cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323													T|||	6	0.00119808	0.0	0.0	5008	,	,		16353	0.005		0.0	False		,,,				2504	0.001					ENST00000494488.2		NA																	3	Substitution - coding silent(3)	p.Y320Y(3)	kidney(2)|prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						c.(913-915)taT>taC		septin 7							47.0	41.0	43.0					7																	35930362		1836	4080	5916	SO:0001819	synonymous_variant	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35930362T>C	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.798T>C	7.37:g.35930362T>C		False	False		Somatic	0				SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y	p.Y305Y			WXS	Illumina HiSeq	Phase_I	Q16181	SEPT7_HUMAN			10	915	+			319					Q52M76|Q6NX50	Silent	SNP	ENST00000435235.1	37	c.915T>C																																																																																					0.323	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	0	NM_001788		7:35930362
PES1	23481	broad.mit.edu	37	22	30975143	30975143	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:30975143T>C	ENST00000405677.1	-	15	2028	c.1085A>G	c.(1084-1086)gAg>gGg	p.E362G	PES1_ENST00000335214.6_Missense_Mutation_p.E496G|PES1_ENST00000402281.1_Missense_Mutation_p.E362G|PES1_ENST00000402284.3_Missense_Mutation_p.E484G|PES1_ENST00000354694.7_Missense_Mutation_p.E501G	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CATCCTCTGCTCTTCCAGGGC	0.602																																						ENST00000402281.1		NA																	0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(1084-1086)gAg>gGg		pescadillo ribosomal biogenesis factor 1							58.0	55.0	56.0					22																	30975143		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30975143T>C	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.1085A>G	22.37:g.30975143T>C	ENSP00000385654:p.Glu362Gly	False	False		Somatic	0				PES1_ENST00000335214.6_Missense_Mutation_p.E496G|PES1_ENST00000354694.7_Missense_Mutation_p.E501G|PES1_ENST00000405677.1_Missense_Mutation_p.E362G|PES1_ENST00000402284.3_Missense_Mutation_p.E484G	p.E362G	NM_001282327.1	NP_001269256.1	WXS	Illumina HiSeq	Phase_I	O00541	PESC_HUMAN			15	2076	-			501			BRCT.|Sufficient for interaction with MAP1B (By similarity).			Missense_Mutation	SNP	ENST00000405677.1	37	c.1085A>G		.	.	.	.	.	.	.	.	.	.	T	12.59	1.982573	0.34942	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	4.02	4.02	0.46733	.	0.584696	0.17257	N	0.180925	T	0.40272	0.1110	M	0.81942	2.565	0.80722	D	1	B;B;B;B	0.16603	0.008;0.018;0.013;0.008	B;B;B;B	0.17098	0.007;0.011;0.017;0.007	T	0.35176	-0.9799	10	0.42905	T	0.14	-12.7264	9.7667	0.40565	0.0:0.0:0.2307:0.7693	.	501;484;496;501	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	G	501;362;362;484;496	ENSP00000346725:E501G;ENSP00000384366:E362G;ENSP00000385654:E362G;ENSP00000384252:E484G;ENSP00000334612:E496G	ENSP00000334612:E496G	E	-	2	0	PES1	29305143	0.068000	0.21057	1.000000	0.80357	0.905000	0.53344	1.076000	0.30729	1.591000	0.50007	0.379000	0.24179	GAG		0.602	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	0	NM_014303		22:30975143
CACNA1B	774	broad.mit.edu	37	9	140919489	140919489	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:140919489G>A	ENST00000371372.1	+	20	3296	c.3151G>A	c.(3151-3153)Gtg>Atg	p.V1051M	CACNA1B_ENST00000371367.5_Missense_Mutation_p.V35M|CACNA1B_ENST00000545473.1_Missense_Mutation_p.V35M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1051M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.V243M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1052M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1052M	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1051					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTCCAGAAGGTGGAGGAACA	0.562																																						ENST00000277549.5		NA																	0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(727-729)Gtg>Atg		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						56.0	64.0	61.0					9																	140919489		2178	4268	6446	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140919489G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3151G>A	9.37:g.140919489G>A	ENSP00000360423:p.Val1051Met	False	False		Somatic	0				CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1052M|CACNA1B_ENST00000371372.1_Missense_Mutation_p.V1051M|CACNA1B_ENST00000545473.1_Missense_Mutation_p.V35M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371367.5_Missense_Mutation_p.V35M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1052M	p.V243M			WXS	Illumina HiSeq	Phase_I	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	20	3296	+	all_cancers(76;0.166)		1051					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.727G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602173	0.66445	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371367;ENST00000545473	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.02	5.02	0.67125	.	10.830000	0.00166	N	0.000000	T	0.56124	0.1964	L	0.42245	1.32	0.36925	D	0.89158	D;D;D	0.55172	0.97;0.97;0.97	P;P;P	0.54889	0.682;0.763;0.682	T	0.35201	-0.9798	10	0.48119	T	0.1	.	13.3267	0.60463	0.0:0.0:0.842:0.158	.	1051;1052;1051	B1AQK4;B1AQK7;B1AQK6	.;.;.	M	1051;1051;243;1051;1052;1052;35;35	ENSP00000360423:V1051M;ENSP00000277551:V1051M;ENSP00000277549:V243M;ENSP00000360414:V1051M;ENSP00000360408:V1052M;ENSP00000360406:V1052M;ENSP00000360418:V35M;ENSP00000441232:V35M	ENSP00000277549:V243M	V	+	1	0	CACNA1B	140039310	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.321000	0.51999	2.327000	0.79052	0.561000	0.74099	GTG		0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	0	NM_000718		9:140919489
STXBP5L	9515	broad.mit.edu	37	3	120673880	120673880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:120673880C>T	ENST00000273666.6	+	3	554	c.283C>T	c.(283-285)Cga>Tga	p.R95*	STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R95*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	95					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGGTGCTATACGAATGTATCC	0.363																																						ENST00000273666.6		NA																	0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(283-285)Cga>Tga		syntaxin binding protein 5-like							107.0	98.0	101.0					3																	120673880		1855	4112	5967	SO:0001587	stop_gained	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120673880C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.283C>T	3.37:g.120673880C>T	ENSP00000273666:p.Arg95*	False	False		Somatic	0				STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.R95*	p.R95*	NM_014980.2	NP_055795.1	WXS	Illumina HiSeq	Phase_I	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	3	554	+			95					Q4G1B4|Q6PIC3	Nonsense_Mutation	SNP	ENST00000273666.6	37	c.283C>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910776	0.92178	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	.	.	.	5.55	2.53	0.30540	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.3558	12.3798	0.55301	0.4358:0.5642:0.0:0.0	.	.	.	.	X	95	.	ENSP00000273666:R95X	R	+	1	2	STXBP5L	122156570	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.116000	0.31221	0.648000	0.30732	-0.314000	0.08810	CGA		0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	0			3:120673880
TTN	7273	broad.mit.edu	37	2	179599224	179599224	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:179599224G>C	ENST00000591111.1	-	50	14600	c.14376C>G	c.(14374-14376)ttC>ttG	p.F4792L	TTN_ENST00000342992.6_Missense_Mutation_p.F3865L|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.F5109L|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12172	Ig-like 28.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGTCTTTGAACCAGCTAA	0.383																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15325-15327)ttC>ttG		titin							90.0	89.0	90.0					2																	179599224		1844	4107	5951	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179599224G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14376C>G	2.37:g.179599224G>C	ENSP00000465570:p.Phe4792Leu	True	False		Somatic	0				TTN_ENST00000342992.6_Missense_Mutation_p.F3865L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.F4792L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA	p.F5109L	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		52	15551	-			4792			Ig-like 31.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15327C>G		.	.	.	.	.	.	.	.	.	.	G	10.64	1.405691	0.25378	.	.	ENSG00000155657	ENST00000342992	T	0.69685	-0.42	5.76	2.58	0.30949	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51415	0.1673	L	0.31804	0.96	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.50013	-0.8877	9	0.87932	D	0	.	7.701	0.28623	0.4401:0.0:0.5599:0.0	.	4792	Q8WZ42	TITIN_HUMAN	L	3865	ENSP00000343764:F3865L	ENSP00000343764:F3865L	F	-	3	2	TTN	179307469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.267000	0.33050	0.761000	0.33130	0.563000	0.77884	TTC		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179599224
CACNA1H	8912	broad.mit.edu	37	16	1270897	1270897	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:1270897G>A	ENST00000348261.5	+	35	7213	c.6965G>A	c.(6964-6966)cGg>cAg	p.R2322Q	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R2316Q|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R2316Q	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2322					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GAGAAGAGGCGGGGGCTGTAC	0.652																																						ENST00000348261.5		NA																	0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(6964-6966)cGg>cAg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						49.0	55.0	53.0					16																	1270897		1849	4079	5928	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1270897G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6965G>A	16.37:g.1270897G>A	ENSP00000334198:p.Arg2322Gln	True	False		Somatic	0				CACNA1H_ENST00000565831.1_Missense_Mutation_p.R2316Q|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R2316Q	p.R2322Q	NM_021098.2	NP_066921.2	WXS	Illumina HiSeq	Phase_I	O95180	CAC1H_HUMAN			35	7213	+		Hepatocellular(780;0.00369)	2322					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.6965G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.691971	0.00731	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96396	-4.0;-3.95	3.85	-3.3	0.05003	.	7739.210000	0.00166	N	0.000000	D	0.88618	0.6485	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B	0.12013	0.002;0.001;0.001;0.005;0.001	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.0	D	0.84117	0.0404	10	0.11182	T	0.66	.	9.9107	0.41403	0.7772:0.0:0.2228:0.0	.	1068;1046;1052;2316;2322	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	Q	2322;2316	ENSP00000334198:R2322Q;ENSP00000351401:R2316Q	ENSP00000334198:R2322Q	R	+	2	0	CACNA1H	1210898	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.131000	0.10482	-0.593000	0.05844	-0.998000	0.02512	CGG		0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	0	NM_001005407		16:1270897
PLIN4	729359	broad.mit.edu	37	19	4513275	4513275	+	Missense_Mutation	SNP	C	C	T	rs570323479		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:4513275C>T	ENST00000301286.3	-	3	654	c.655G>A	c.(655-657)Ggc>Agc	p.G219S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	219	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCTTTGGTGCCGGTCAGCACA	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23686	0.0		0.0	False		,,,				2504	0.0					ENST00000301286.3		NA																	0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(655-657)Ggc>Agc		perilipin 4							129.0	139.0	136.0					19																	4513275		2133	4240	6373	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4513275C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.655G>A	19.37:g.4513275C>T	ENSP00000301286:p.Gly219Ser	False	False		Somatic	0					p.G219S	NM_001080400.1	NP_001073869.1	WXS	Illumina HiSeq	Phase_I	Q96Q06	PLIN4_HUMAN			3	654	-			219			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.655G>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625887	0.46840	.	.	ENSG00000167676	ENST00000301286	T	0.15256	2.44	5.01	5.01	0.66863	.	0.000000	0.53938	D	0.000057	T	0.43897	0.1268	M	0.80982	2.52	0.35075	D	0.762835	D	0.89917	1.0	D	0.97110	1.0	T	0.60393	-0.7272	10	0.66056	D	0.02	-30.3146	13.8171	0.63299	0.0:1.0:0.0:0.0	.	219	Q96Q06	PLIN4_HUMAN	S	219	ENSP00000301286:G219S	ENSP00000301286:G219S	G	-	1	0	PLIN4	4464275	0.001000	0.12720	0.900000	0.35374	0.006000	0.05464	0.305000	0.19254	2.313000	0.78055	0.561000	0.74099	GGC		0.577	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	0	XM_170901		19:4513275
HERC2	8924	broad.mit.edu	37	15	28459392	28459392	+	Missense_Mutation	SNP	G	G	A	rs138059246	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:28459392G>A	ENST00000261609.7	-	41	6493	c.6385C>T	c.(6385-6387)Cgc>Tgc	p.R2129C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCTGCGGGCGCACCCTGCGC	0.667																																						ENST00000261609.7		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(6385-6387)Cgc>Tgc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							25.0	26.0	25.0					15																	28459392		2195	4292	6487	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28459392G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6385C>T	15.37:g.28459392G>A	ENSP00000261609:p.Arg2129Cys	False	False		Somatic	0					p.R2129C	NM_004667.5	NP_004658.3	WXS	Illumina HiSeq	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	41	6493	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2129						Missense_Mutation	SNP	ENST00000261609.7	37	c.6385C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944883	0.53079	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	4.75	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55866	-0.8073	10	0.72032	D	0.01	.	12.4051	0.55434	0.0:0.0:0.7652:0.2348	.	2129	O95714	HERC2_HUMAN	C	2129	ENSP00000261609:R2129C	ENSP00000261609:R2129C	R	-	1	0	HERC2	26132987	1.000000	0.71417	0.956000	0.39512	0.126000	0.20510	3.130000	0.50508	2.461000	0.83175	0.484000	0.47621	CGC		0.667	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	NM_004667		15:28459392
TJP3	27134	broad.mit.edu	37	19	3740730	3740730	+	Silent	SNP	C	C	T	rs139746746	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:3740730C>T	ENST00000541714.2	+	14	2274	c.1812C>T	c.(1810-1812)taC>taT	p.Y604Y	TJP3_ENST00000587686.1_Silent_p.Y623Y|TJP3_ENST00000262968.9_Silent_p.Y637Y|TJP3_ENST00000382008.3_Silent_p.Y618Y|TJP3_ENST00000539908.2_Silent_p.Y568Y|TJP3_ENST00000589378.1_Silent_p.Y613Y	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	604	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGCCGCTACCCGCCCTACG	0.667													C|||	3	0.000599042	0.0023	0.0	5008	,	,		12358	0.0		0.0	False		,,,				2504	0.0					ENST00000541714.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1810-1812)taC>taT		tight junction protein 3		C		14,4390		0,14,2188	19.0	22.0	21.0		1911	2.2	1.0	19	dbSNP_134	21	0,8598		0,0,4299	no	coding-synonymous	TJP3	NM_014428.1		0,14,6487	TT,TC,CC		0.0,0.3179,0.1077		637/953	3740730	14,12988	2202	4299	6501	SO:0001819	synonymous_variant	27134					tight junction	protein binding	g.chr19:3740730C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1812C>T	19.37:g.3740730C>T		True	False		Somatic	0				TJP3_ENST00000539908.2_Silent_p.Y568Y|TJP3_ENST00000262968.9_Silent_p.Y637Y|TJP3_ENST00000382008.3_Silent_p.Y618Y|TJP3_ENST00000587686.1_Silent_p.Y623Y|TJP3_ENST00000589378.1_Silent_p.Y613Y	p.Y604Y	NM_001267560.1	NP_001254489.1	WXS	Illumina HiSeq	Phase_I	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	14	2274	+			618			Guanylate kinase-like.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	37	c.1812C>T	CCDS32873.2																																																																																				0.667	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1	0			19:3740730
CYP3A5	1577	broad.mit.edu	37	7	99258126	99258126	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:99258126T>C	ENST00000222982.4	-	10	1121	c.1022A>G	c.(1021-1023)aAt>aGt	p.N341S	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000343703.5_Missense_Mutation_p.N331S	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	341					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCTCACCTTATTGGGCAAAAC	0.458																																						ENST00000343703.5		NA																	0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(991-993)aAt>aGt		cytochrome P450, family 3, subfamily A, polypeptide 5							109.0	100.0	103.0					7																	99258126		2203	4300	6503	SO:0001583	missense	0							g.chr7:99258126T>C	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.1022A>G	7.37:g.99258126T>C	ENSP00000222982:p.Asn341Ser	False	False		Somatic	0				CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.N341S	p.N331S			WXS	Illumina HiSeq	Phase_I					11	1378	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		NA					A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	ENST00000222982.4	37	c.992A>G	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.543326	0.27563	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.67523	-0.27;-0.27	4.51	2.07	0.26955	.	0.240715	0.46442	D	0.000298	T	0.54647	0.1871	L	0.43757	1.38	0.80722	D	1	B;B	0.17038	0.02;0.012	B;B	0.19391	0.015;0.025	T	0.47849	-0.9085	10	0.62326	D	0.03	.	7.1908	0.25824	0.0:0.1948:0.0:0.8052	.	331;341	F5H4S0;P20815	.;CP3A5_HUMAN	S	341;331	ENSP00000222982:N341S;ENSP00000342969:N331S	ENSP00000222982:N341S	N	-	2	0	CYP3A5	99096062	1.000000	0.71417	0.998000	0.56505	0.488000	0.33401	3.836000	0.55813	0.133000	0.18654	0.528000	0.53228	AAT		0.458	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1	0			7:99258126
ASIC3	9311	broad.mit.edu	37	7	150746117	150746117	+	Missense_Mutation	SNP	G	G	A	rs150462572		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:150746117G>A	ENST00000349064.5	+	1	343	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	ASIC3_ENST00000297512.8_Missense_Mutation_p.V49M|ASIC3_ENST00000357922.4_Missense_Mutation_p.V49M	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	49					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										GGCAGCGGCCGTGGTCCTGTC	0.662																																						ENST00000357922.4		NA																	0					NA						c.(145-147)Gtg>Atg		acid-sensing (proton-gated) ion channel 3		G	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	55.0	50.0	52.0		145,145,145	2.1	0.9	7	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	49/532,49/550,49/544	150746117	1,13005	2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746117G>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.145G>A	7.37:g.150746117G>A	ENSP00000344838:p.Val49Met	False	False		Somatic	0				ASIC3_ENST00000297512.8_Missense_Mutation_p.V49M|ASIC3_ENST00000349064.5_Missense_Mutation_p.V49M	p.V49M	NM_020322.3	NP_064718.1	WXS	Illumina HiSeq	Phase_I	Q9UHC3	ACCN3_HUMAN			1	739	+			49					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.145G>A	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	G	9.572	1.121302	0.20877	0.0	1.16E-4	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.65549	-0.16;-0.16;-0.16	4.98	2.06	0.26882	.	.	.	.	.	T	0.53753	0.1816	M	0.66939	2.045	0.30998	N	0.720624	B;P;B	0.49696	0.224;0.927;0.049	B;B;B	0.40864	0.024;0.342;0.036	T	0.56631	-0.7947	9	0.42905	T	0.14	-13.2004	4.0592	0.09831	0.085:0.2987:0.4626:0.1536	.	49;49;49	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	M	49	ENSP00000350600:V49M;ENSP00000344838:V49M;ENSP00000297512:V49M	ENSP00000297512:V49M	V	+	1	0	ACCN3	150377050	0.986000	0.35501	0.856000	0.33681	0.149000	0.21700	2.978000	0.49305	0.203000	0.20529	0.462000	0.41574	GTG		0.662	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	0	NM_004769		7:150746117
SNED1	25992	broad.mit.edu	37	2	241991878	241991878	+	Silent	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:241991878C>T	ENST00000310397.8	+	15	2076	c.2076C>T	c.(2074-2076)tgC>tgT	p.C692C	SNED1_ENST00000401884.1_Silent_p.C692C|SNED1_ENST00000405547.3_Silent_p.C692C|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Silent_p.C692C|SNED1_ENST00000469006.1_3'UTR	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	692	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GACGCCGGTGCCAGGCAGGTG	0.637																																						ENST00000310397.8		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(2074-2076)tgC>tgT		sushi, nidogen and EGF-like domains 1							41.0	48.0	46.0					2																	241991878		2057	4188	6245	SO:0001819	synonymous_variant	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:241991878C>T	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2076C>T	2.37:g.241991878C>T		True	False		Somatic	0				SNED1_ENST00000401884.1_Silent_p.C692C|SNED1_ENST00000342631.6_Silent_p.C692C|SNED1_ENST00000405547.3_Silent_p.C692C|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR	p.C692C	NM_001080437.1	NP_001073906.1	WXS	Illumina HiSeq	Phase_I	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	15	2076	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	692			EGF-like 10.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	c.2076C>T	CCDS46562.1																																																																																				0.637	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	0	XM_059482		2:241991878
SMAD4	4089	broad.mit.edu	37	18	48604736	48604736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr18:48604736G>T	ENST00000342988.3	+	12	2096	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	520	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.E520*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAGCATCAAAGAAACACCTTG	0.488																																						ENST00000342988.3		NA																	39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)	p.0?(36)|p.?(2)|p.E520*(1)	pancreas(26)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1558-1560)Gaa>Taa		SMAD family member 4							98.0	94.0	96.0					18																	48604736		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604736G>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1558G>T	18.37:g.48604736G>T	ENSP00000341551:p.Glu520*	True	False		Somatic	0				SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*	p.E520*	NM_005359.5	NP_005350.1	WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2096	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	520			MH2.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.1558G>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	42	9.212720	0.99101	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.08	5.21	0.72293	.	0.097880	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.5385	0.67979	0.0714:0.0:0.9286:0.0	.	.	.	.	X	520	.	ENSP00000341551:E520X	E	+	1	0	SMAD4	46858734	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	7.414000	0.80117	1.582000	0.49881	0.655000	0.94253	GAA		0.488	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48604736
FYCO1	79443	broad.mit.edu	37	3	46008034	46008034	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:46008034T>C	ENST00000296137.2	-	8	2997	c.2792A>G	c.(2791-2793)cAg>cGg	p.Q931R	FYCO1_ENST00000535325.1_Missense_Mutation_p.Q931R	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	931					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGGAGCTCCTGGACAGCACA	0.627																																						ENST00000296137.2		NA																	0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(2791-2793)cAg>cGg		FYVE and coiled-coil domain containing 1							57.0	56.0	56.0					3																	46008034		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46008034T>C	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2792A>G	3.37:g.46008034T>C	ENSP00000296137:p.Gln931Arg	False	False		Somatic	0				FYCO1_ENST00000535325.1_Missense_Mutation_p.Q931R	p.Q931R	NM_024513.3	NP_078789.2	WXS	Illumina HiSeq	Phase_I	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	2997	-			931					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.2792A>G	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	0.969	-0.700659	0.03279	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.78481	-1.18;-1.18	5.17	1.53	0.23141	.	0.305477	0.32081	N	0.006616	T	0.67192	0.2867	L	0.50919	1.6	0.09310	N	1	B;B	0.13145	0.007;0.005	B;B	0.10450	0.005;0.002	T	0.53975	-0.8362	10	0.31617	T	0.26	-12.6091	7.6462	0.28321	0.0:0.2406:0.0:0.7594	.	931;931	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	R	931	ENSP00000296137:Q931R;ENSP00000441178:Q931R	ENSP00000296137:Q931R	Q	-	2	0	FYCO1	45983038	0.054000	0.20591	0.941000	0.38009	0.062000	0.15995	0.895000	0.28363	0.307000	0.22880	0.533000	0.62120	CAG		0.627	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	0	NM_024513		3:46008034
