#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
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								Untested	Somatic	Phase_I	WXS	none			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	0.770000	0.420000	6.800000e-01	5.000000e-01	0.580000	0.597220	0.580000	0.580000																										0				22						c.(766-771)tactat>tat		olfactory receptor, family 10, subfamily G, member 2																																				SO:0001651	inframe_deletion	26534	0	0					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	chr14.hg19:g.22102232_22102234delTAG	ENSP00000445383:p.Tyr257del	0						p.256_257YY>Y	NM_001005466.1	NP_001005466.1	1	2	3	2.002756	Q8NGC3	O10G2_HUMAN		1	865_867	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	B2RPD0	In_Frame_Del	DEL	ENST00000542433.1	0	1	hg19	c.768_770delCTA	CCDS32047.1	0																																																																																								0.656250		TCGA-HV-A5A4-01A-11D-A26I-08	0.552	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1	1	0	0		42			0	0	0	3	27	0	27	29	1	2	-20.000000	1	0.560000			0	38	50	0	258	210	0	0	1			0	0	27	0	0	0.157042			0	0	0	0	38	258
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			-	GGAGCCC	-	-		Valid	Somatic	Phase_I	WXS	targeted			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	0.490000	0.140000	3.700000e-01	2.000000e-01	0.280000	0.298554	0.280000	0.270000																										0				66						c.(4561-4566)tccacafs		plexin B2																																				SO:0001589	frameshift_variant	23654	0	0					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	chr22.hg19:g.50717109_50717115dupGGAGCCC	ENSP00000409171:p.Thr1522fs	0					PLXNB2_ENST00000359337.4_Frame_Shift_Ins_p.T1522fs	p.T1522fs			1	2	3	2.032619	O15031	PLXB2_HUMAN		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)	A6QRH0|Q7KZU3|Q9BSU7	Frame_Shift_Ins	INS	ENST00000449103.1	0	1	hg19	c.4563_4564insGGGCTCC	CCDS43035.1	0																																																																																								0.562450		TCGA-HV-A5A4-01A-11D-A26I-08	0.639	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	1	0	1		2	2	2	0	0	0	0	27	0	27	27	1	2	-16.224910	1	0.560000	NM_012401		0	11	21	0	134	134	0	0	1	0	1	0	0	27	1195	0	0.999010	9.999994e-01	1	0	114	423	1663	11	134
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	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			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)	ENST00000280154.7	1.000000	0.950000	1	9.900000e-01	0.990000	0.996526	0.990000	1.000000																										0				13						c.(829-831)Acc>Gcc		programmed cell death 4 (neoplastic transformation inhibitor)							166.0	188.0	181.0					10																	112649342		2203	4300	6503	SO:0001583	missense	27250	0	0					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	chr10.hg19:g.112649342A>G	ENSP00000280154:p.Thr277Ala	0					PDCD4_ENST00000393104.2_Missense_Mutation_p.T266A|PDCD4_ENST00000481353.1_3'UTR	p.T277A	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	0	0	0	1.998602	Q53EL6	PDCD4_HUMAN		7	1103	+		Breast(234;0.0848)|Lung NSC(174;0.238)	B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	1	1	hg19	c.829A>G	CCDS7567.1	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	5.790000	4.650000	0.581690	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	0	PDCD4	112639332	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	0.560000		TCGA-HV-A5A4-01A-11D-A26I-08	0.313	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	1	0	1	2	2	2	2	0	0	0	0	68	68	68	68	1	2	-20.000000	1	0.560000	NM_014456		0	281	279	0	667	663	1		1	1		0	0	68	0	0	1.000000	1	0	41	0	99	0	281	667
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	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000389906.2_Silent_p.T82T|APBB1_ENST00000299402.6_Silent_p.T82T|APBB1_ENST00000311051.3_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	1.000000	0.960000	1	9.900000e-01	0.990000	0.997733	0.990000	1.000000																										0				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	0	0					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	chr11.hg19:g.6432332C>T		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	0	0	0	2.003133	O00213	APBB1_HUMAN		2	345	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	ENST00000609360.1	1	1	hg19	c.246G>A		1																																																																																								0.560000		TCGA-HV-A5A4-01A-11D-A26I-08	0.667	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	1	0	1	2	2	2	2	0	0	0	0	221	221	221	218	1	2	-19.999050	1	0.560000	NM_001164		0	493	490	0	1188	1169	1		1	1		0	0	221	0	0	1.000000	9.999504e-01	0	2	0	35	0	493	1188
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	0	0		Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	chr12.hg19:g.25398284C>A	ENSP00000256078:p.Gly12Val	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	p.G12V	NM_033360.2	NP_203524.1	1	2	3	2.624080	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	0	0	hg19	c.35G>T	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	5.680000	5.680000	0.881260	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.656250		TCGA-HV-A5A4-01A-11D-A26I-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	2	2	2	2	0	0	0	0	6	6	6	6	1	2	-20.000000	1	0.560000	NM_033360		3723	66	66	4285	79	79	1	1	1	1	1	0	0	6	467	1	1.000000	9.986447e-01	1	6	209	10	441	66	79
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000546225.1_5'UTR|IQCH_ENST00000512104.1_Silent_p.S88S|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	1.000000	0.870000	1	9.700000e-01	0.990000	0.988028	0.990000	1.000000																										0				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	0	0					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	chr15.hg19:g.67555549C>G		0					IQCH_ENST00000512104.1_Silent_p.S88S|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR	p.S88S	NM_001031715.2	NP_001026885	0	1	1	1.991991	Q86VS3	IQCH_HUMAN		3	330	+			A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	1	1	hg19	c.264C>G	CCDS32273.1	1																																																																																								0.558765		TCGA-HV-A5A4-01A-11D-A26I-08	0.313	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	1	0	1	2	2	2	2	0	0	0	0	25	25	25	25	1	2	-7.044731	1	0.560000	NM_022784		0	67	67	0	152	151	1		1			0	0	25	0	0	1.000000	0	0	0	0	0	0	67	152
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	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			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_ENST00000565831.1_Missense_Mutation_p.R2316Q|CACNA1H_ENST00000358590.4_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	1.000000	0.830000	1	8.900000e-01	0.960000	0.954969	0.960000	1.000000																										0				34						c.(6964-6966)cGg>cAg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)						49.0	55.0	53.0					16																	1270897		1849	4079	5928	SO:0001583	missense	8912	0	0					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	chr16.hg19:g.1270897G>A	ENSP00000334198:p.Arg2322Gln	0					CACNA1H_ENST00000565831.1_Missense_Mutation_p.R2316Q|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R2316Q	p.R2322Q	NM_021098.2	NP_066921.2	1	2	3	2.023806	O95180	CAC1H_HUMAN		35	7213	+		Hepatocellular(780;0.00369)	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	1	1	hg19	c.6965G>A	CCDS45375.1	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	3.850000	-3.300000	0.050030	.	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	0	CACNA1H	1210898	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	0.562450		TCGA-HV-A5A4-01A-11D-A26I-08	0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	1	0	1	2	2	2	2	0	0	0	0	105	105	105	99	1	2	-6.968456	1	0.560000	NM_001005407		0	145	141	0	393	381	1		1	0		0	0	105	0	0	1.000000	9.999989e-01	0	0	0	56	0	145	393
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000396138.4_Missense_Mutation_p.R434Q|UMOD_ENST00000424589.1_Missense_Mutation_p.R418Q|UMOD_ENST00000396134.2_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																																						ENST00000570689.1	1.000000	0.730000	1	8.100000e-01	0.910000	0.908366	0.910000	1.000000																										0				41						c.(1153-1155)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	5	121412	38				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	chr16.hg19:g.20357476C>T	ENSP00000460548:p.Arg385Gln	0					UMOD_ENST00000396134.2_Missense_Mutation_p.R418Q|UMOD_ENST00000396142.2_Missense_Mutation_p.R385Q|UMOD_ENST00000396138.4_Missense_Mutation_p.R434Q|UMOD_ENST00000424589.1_Missense_Mutation_p.R418Q|UMOD_ENST00000302509.4_Missense_Mutation_p.R385Q	p.R385Q			1	2	3	2.006756	P07911	UROM_HUMAN		5	1300	-			B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	1	1	hg19	c.1154G>A	CCDS10583.1	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	4.850000	1.240000	0.213080	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	0	UMOD	20264977	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	0.561229		TCGA-HV-A5A4-01A-11D-A26I-08	0.587	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1	1	0	1	2	2	2	2	0	0	0	0	37	37	37	37	1	2	-4.867557	1	0.560000			0	67	67	0	195	195	1		1			0	0	37	0	0	1.000000	0	0	0	0	0	0	67	195
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	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			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	1.000000	0.700000	9.800000e-01	8.100000e-01	0.910000	0.901766	0.910000	0.990000																										0				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	0	0					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	chr16.hg19:g.67189164G>T	ENSP00000341268:p.Leu155Met	1					TRADD_ENST00000566104.1_5'Flank|TRADD_ENST00000486556.1_Missense_Mutation_p.L95M	p.L155M	NM_003789.3	NP_003780.1	0	1	1	1.453218	Q15628	TRADD_HUMAN		4	931	-		Ovarian(137;0.0563)	B2RDS3|B3KQZ9|Q52NZ1	Missense_Mutation	SNP	ENST00000345057.4	1	1	hg19	c.463C>A	CCDS10829.1	1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372993	0.24857	.	.	ENSG00000102871	ENST00000345057	.	.	.	5.25	2.14	0.27477	5.250000	2.140000	0.274770	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	2	TRADD	65746665	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	0.388889		TCGA-HV-A5A4-01A-11D-A26I-08	0.692	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2	1	0	1	2	2	2	2	0	0	0	0	17	17	17	17	1	2	-20.000000	1	0.560000			0	24	23	0	32	31	0		1	1		0	0	17	0	0	1.000000	1	0	54	0	34	0	24	32
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000586793.1_Missense_Mutation_p.R88H|GFAP_ENST00000435360.2_Missense_Mutation_p.R88H|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR	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	1.000000	0.670000	9.100000e-01	7.400000e-01	0.820000	0.829805	0.820000	0.820000																										0				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	4	121412	36				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	chr17.hg19:g.42992592C>T	ENSP00000253408:p.Arg88His	0					GFAP_ENST00000435360.2_Missense_Mutation_p.R88H|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Missense_Mutation_p.R88H	p.R88H	NM_002055.4	NP_002046.1	1	2	3	2.021484	P14136	GFAP_HUMAN		1	328	-		Prostate(33;0.0959)	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	1	1	hg19	c.263G>A	CCDS11491.1	0	.	.	.	.	.	.	.	.	.	.	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	4.690000	4.690000	0.590740	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	0	GFAP	40348118	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	0.562450		TCGA-HV-A5A4-01A-11D-A26I-08	0.607	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	0	0	1	2	2	2	2	0	0	0	0	56	56	56	56	1	2	-20.000000	1	0.560000	NM_002055		0	91	89	0	305	300	1		1	0		0	0	56	0	0	1.000000	0	0	0	0	1	0	91	305
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	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			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	1.000000	0.760000	1	8.600000e-01	0.960000	0.942329	0.960000	1.000000																										0				21						c.(1756-1758)gCg>gTg		glucosidase, alpha; acid	Acarbose(DB00284)|Miglitol(DB00491)						25.0	27.0	26.0					17																	78086379		2203	4299	6502	SO:0001583	missense	2548	2	121308	35				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	chr17.hg19:g.78086379C>T	ENSP00000305692:p.Ala586Val	0					GAA_ENST00000390015.3_Missense_Mutation_p.A586V	p.A586V	NM_000152.3	NP_000143.2	1	2	3	2.021484	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)	13	1976	+	all_neural(118;0.117)		Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	1	1	hg19	c.1757C>T	CCDS32760.1	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	4.560000	4.560000	0.562230	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	0	GAA	75700974	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	0.562450		TCGA-HV-A5A4-01A-11D-A26I-08	0.682	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1	1	0	1	2	2	2	2	0	0	0	0	32	32	32	32	1	2	-20.000000	1	0.560000			0	58	57	0	157	155	1		1	1		0	0	32	0	0	1.000000	1	0	12	0	114	0	58	157
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	T	A	A		Valid	Somatic	Phase_I	WXS	targeted			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	1.000000	0.760000	9.500000e-01	8.100000e-01	0.880000	0.885445	0.880000	0.880000																										0				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	0	0					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	chr17.hg19:g.78282819A>T		0					RNF213_ENST00000319921.4_Splice_Site_p.I835F|RNF213_ENST00000508628.2_Splice_Site_p.I884F|RNF213_ENST00000456466.1_Splice_Site_p.I835F	p.I835F	NM_001256071.1	NP_001243000.1	1	2	3	2.021484	Q63HN8	RN213_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)	14	2646	+	all_neural(118;0.0538)		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Splice_Site	SNP	ENST00000582970.1	0	1	hg19	c.2503A>T	CCDS58606.1	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	5.380000	-4.180000	0.038460	.	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	0	RNF213	75897414	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	0.562450		TCGA-HV-A5A4-01A-11D-A26I-08	0.478	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	0	0	0	2	2	2	2	0	0	0	0	77	77	77	76	1	2	-20.000000	1	0.560000	NM_020914	Missense_Mutation	0	153	152	0	469	465	0		1	1	1	0	0	77	656	0	1.000000	8.645865e-01	1	4	246	9	597	153	469
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.R161Q	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	0.990000	0.680000	9.200000e-01	7.500000e-01	0.830000	0.840485	0.830000	0.840000																										0				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	0	0					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	chr18.hg19:g.21136301C>T	ENSP00000269228:p.Arg411Gln	0					NPC1_ENST00000412552.2_Missense_Mutation_p.R161Q|NPC1_ENST00000540608.1_5'UTR	p.R411Q	NM_000271.4	NP_000262.2	0	0	0	1.923068	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)		B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	1	1	hg19	c.1232G>A	CCDS11878.1	0	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	5.450000	-6.010000	0.021990	.	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	0	NPC1	19390299	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	0.539363		TCGA-HV-A5A4-01A-11D-A26I-08	0.557	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	1	0	1	2	2	2	2	0	0	0	0	51	51	51	50	1	2	-2.841094	1	0.560000	NM_000271		0	87	88	0	267	265	1		1	1		0	0	51	0	0	1.000000	9.854672e-01	0	7	0	16	0	87	267
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	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			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_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*	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	1.000000	0.820000	9.900000e-01	8.800000e-01	0.940000	0.940809	0.940000	1.000000																										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)	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	0	0					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	chr18.hg19:g.48604736G>T	ENSP00000341551:p.Glu520*	1					SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*	p.E520*	NM_005359.5	NP_005350.1	0	1	1	1.429926	Q13485	SMAD4_HUMAN		12	2096	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	0	1	hg19	c.1558G>T	CCDS11950.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.212720	0.99101	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.08	5.21	0.72293	6.080000	5.210000	0.722930	.	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	0	SMAD4	46858734	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	0.391256		TCGA-HV-A5A4-01A-11D-A26I-08	0.488	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	2	2	2	2	0	0	0	0	46	46	46	46	1	2	-20.000000	1	0.560000	NM_005359		0	124	124	0	204	201	1		1	1	1	0	0	46	692	0	1.000000	1	1	25	253	36	371	124	204
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	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			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	1.000000	0.580000	8.800000e-01	6.700000e-01	0.760000	0.777863	0.760000	0.760000																										0				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	26	121198	42				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	chr19.hg19:g.3740730C>T		0					TJP3_ENST00000587686.1_Silent_p.Y623Y|TJP3_ENST00000539908.2_Silent_p.Y568Y|TJP3_ENST00000262968.9_Silent_p.Y637Y|TJP3_ENST00000589378.1_Silent_p.Y613Y|TJP3_ENST00000382008.3_Silent_p.Y618Y	p.Y604Y	NM_001267560.1	NP_001254489.1	1	2	3	2.032916	O95049	ZO3_HUMAN		14	2274	+			A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	1	1	hg19	c.1812C>T	CCDS32873.2	0																																																																																								0.562450		TCGA-HV-A5A4-01A-11D-A26I-08	0.667	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1	1	0	1	2	2	2	2	0	0	0	0	53	53	53	51	1	2	-20.000000	1	0.560000			0	45	44	0	165	163	1		1	1		0	0	53	0	0	1.000000	1	0	89	0	124	0	45	165
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.830000	9.800000e-01	8.700000e-01	0.920000	0.930678	0.920000	1.000000																										0				41						c.(655-657)Ggc>Agc		perilipin 4							129.0	139.0	136.0					19																	4513275		2133	4240	6373	SO:0001583	missense	729359	1	121110	38				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	chr19.hg19:g.4513275C>T	ENSP00000301286:p.Gly219Ser	0						p.G219S	NM_001080400.1	NP_001073869.1	1	2	3	2.032916	Q96Q06	PLIN4_HUMAN		3	654	-			A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	1	1	hg19	c.655G>A	CCDS45927.1	1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625887	0.46840	.	.	ENSG00000167676	ENST00000301286	T	0.15256	2.44	5.01	5.01	0.66863	5.010000	5.010000	0.668630	.	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	0	PLIN4	4464275	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	0.562450		TCGA-HV-A5A4-01A-11D-A26I-08	0.577	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	1	0	1	2	2	2	2	0	0	0	0	134	134	134	134	1	2	-8.731358	1	0.560000	XM_170901		0	274	273	0	783	777	1		1	0		0	0	134	0	0	1.000000	0	0	1	0	0	0	274	783
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								Untested	Somatic	Phase_I	WXS	none			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|AC037199.1_ENST00000594218.1_Missense_Mutation_p.P10T|KLK2_ENST00000391810.2_Intron|KLK2_ENST00000358049.4_Missense_Mutation_p.G28V			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	1.000000	0.730000	9.800000e-01	8.000000e-01	0.890000	0.892192	0.890000	1.000000				Dom	yes			Dom	yes		19	19q13.41	19q13.41	3817	T	kallikrein-related peptidase 2				E	E	ETV4		prostate	KLK2/ETV1(3)|KLK2/ETV4(2)	0				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	0	0					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	chr19.hg19:g.51378013G>T	ENSP00000313581:p.Gly28Val	0					KLK2_ENST00000358049.4_Missense_Mutation_p.G28V|KLK2_ENST00000597509.1_3'UTR|AC037199.1_ENST00000594218.1_Missense_Mutation_p.P10T|KLK2_ENST00000391810.2_Intron	p.G28V			1	2	3	2.024108	P20151	KLK2_HUMAN		2	308	+		all_neural(266;0.026)	B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	ENST00000325321.3	1	1	hg19	c.83G>T	CCDS12808.1	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	2.460000	2.460000	0.299800	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	0	KLK2	56069825	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	0.562450		TCGA-HV-A5A4-01A-11D-A26I-08	0.622	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	1	0	1	2	2	2	2	0	0	0	0	50	50	50	50	1	2	-20.000000	1	0.560000	NM_005551.3		0	85	85	0	257	253	1		1			0	0	50	0	0	1.000000	0	0	0	0	0	0	85	257
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								Untested	Somatic	Phase_I	WXS	none			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	PEG3_ENST00000593695.1_Silent_p.F684F|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.F810F|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.F686F	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	1.000000	0.880000	1	9.300000e-01	0.970000	0.971773	0.970000	1.000000																										2	Substitution - coding silent(2)	p.F810F(2)	large_intestine(2)	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	0	0					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	chr19.hg19:g.57327380G>A		0					PEG3_ENST00000598410.1_Silent_p.F686F|PEG3_ENST00000423103.2_Silent_p.F810F|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.F684F|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	p.F810F	NM_006210.2	NP_006201.1	1	2	3	2.039655	Q9GZU2	PEG3_HUMAN		10	2793	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	1	1	hg19	c.2430C>T	CCDS12948.1	1																																																																																								0.564873		TCGA-HV-A5A4-01A-11D-A26I-08	0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	1	2	2	2	2	0	0	0	0	91	91	91	91	1	2	-11.618940	1	0.560000			0	299	298	0	800	792	0		1			0	0	91	0	0	1.000000	0	0	0	0	0	0	299	800
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.870000	1	9.500000e-01	0.990000	0.983100	0.990000	1.000000																										0				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	3	121374	37				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	chr1.hg19:g.11596541C>T	ENSP00000294484:p.Thr1326Met	0					PTCHD2_ENST00000389575.3_Missense_Mutation_p.T1326M|PTCHD2_ENST00000304391.6_Silent_p.H212H	p.T1326M	NM_020780.1	NP_065831.1	1	2	3	2.021444	Q9P2K9	PTHD2_HUMAN		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)	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	1	1	hg19	c.3977C>T	CCDS41247.1	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	4.780000	4.780000	0.611600	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	0	PTCHD2	11519128	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	0.562450		TCGA-HV-A5A4-01A-11D-A26I-08	0.607	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	1	0	1	2	2	2	2	0	0	0	0	72	72	72	72	1	2	-20.000000	1	0.560000	XM_052561		0	107	107	0	263	260	1		1	0		0	0	72	0	0	1.000000	8.483957e-02	0	0	0	2	0	107	263
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	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			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	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				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	1	121412	30				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	chr1.hg19:g.151131265T>C	ENSP00000357906:p.Ile31Thr	1						p.I31T	NM_024575.4	NP_078851.2	1	2	3	2.525127	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)		Q6I9Y0|Q9H2H7|Q9H5G2	Missense_Mutation	SNP	ENST00000368910.3	1	1	hg19	c.92T>C	CCDS985.1	1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971377	0.53614	.	.	ENSG00000163154	ENST00000368910	T	0.38240	1.15	5.67	4.55	0.56014	5.670000	4.550000	0.560140	.	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	0	TNFAIP8L2	149397889	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	0.654739		TCGA-HV-A5A4-01A-11D-A26I-08	0.567	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034069.2	1	0	1	2	2	2	2	0	0	0	0	40	40	40	40	1	2	-20.000000	1	0.560000	NM_024575		0	225	223	0	295	291	1		1	0		0	0	40	0	0	1.000000	9.954511e-01	0	0	0	14	0	225	295
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Missense_Mutation_p.R181W|ATP8B2_ENST00000368487.3_5'Flank	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																																						ENST00000324978.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.R181W(2)	lung(2)	23						c.(541-543)Cgg>Tgg		aquaporin 10							140.0	143.0	142.0					1																	154296116		2203	4300	6503	SO:0001583	missense	89872	6	121412	39				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	chr1.hg19:g.154296116C>T	ENSP00000318355:p.Arg181Trp	1					ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000484864.1_Missense_Mutation_p.R181W|AQP10_ENST00000355197.4_3'UTR	p.R181W	NM_080429.2	NP_536354.2	1	2	3	2.525127	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	5	581	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	1	1	hg19	c.541C>T	CCDS1065.1	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	4.900000	1.670000	0.240750	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	2	AQP10	152562740	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	0.654739		TCGA-HV-A5A4-01A-11D-A26I-08	0.612	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	1	0	1	2	2	2	2	0	0	0	0	136	136	136	135	1	2	-20.000000	1	0.560000	NM_080429		0	548	544	0	821	814	1		1	1		0	0	136	0	0	1.000000	1.605253e-01	0	2	0	0	0	548	821
DCST1	149095	broad.mit.edu	37	1	155007014	155007014	+	Silent	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:155007014C>T	ENST00000295542.1	+	3	261	c.165C>T	c.(163-165)ggC>ggT	p.G55G	DCST2_ENST00000295536.5_5'Flank|DCST1_ENST00000392480.1_Silent_p.G55G|DCST1_ENST00000423025.2_Silent_p.G55G|DCST2_ENST00000368424.3_5'Flank|DCST1_ENST00000368419.2_Silent_p.G55G	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	55						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGGGGCAGGCGCTGGGGGGC	0.642																																						ENST00000295542.1	0.870000	0.640000	8.100000e-01	6.900000e-01	0.750000	0.757765	0.750000	0.750000																										0				27						c.(163-165)ggC>ggT		DC-STAMP domain containing 1							64.0	76.0	72.0					1																	155007014		2203	4300	6503	SO:0001819	synonymous_variant	149095	0	0					g.chr1:155007014C>T	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.165C>T	chr1.hg19:g.155007014C>T		1					DCST1_ENST00000392480.1_Silent_p.G55G|DCST1_ENST00000368419.2_Silent_p.G55G|DCST2_ENST00000368424.3_5'Flank|DCST2_ENST00000295536.5_5'Flank|DCST1_ENST00000423025.2_Silent_p.G55G	p.G55G	NM_152494.3	NP_689707.2	1	2	3	2.525127	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)	3	261	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Silent	SNP	ENST00000295542.1	1	0	hg19	c.165C>T	CCDS1083.1	0																																																																																								0.654739		TCGA-HV-A5A4-01A-11D-A26I-08	0.642	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	1	0	1	2	2	2	2	0	0	0	0	111	111	111	111	1	2	-20.000000	1	0.560000	NM_152494		0	177	174	0	893	881	1		1	0		0	0	111	0	0	1.000000	2.608006e-01	0	0	0	6	0	177	893
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	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000402281.1_Missense_Mutation_p.E362G|PES1_ENST00000354694.7_Missense_Mutation_p.E501G|PES1_ENST00000402284.3_Missense_Mutation_p.E484G|PES1_ENST00000335214.6_Missense_Mutation_p.E496G	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																																						ENST00000405677.1	1.000000	0.850000	1	9.700000e-01	0.990000	0.985653	0.990000	1.000000																										0				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	0	0					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	chr22.hg19:g.30975143T>C	ENSP00000385654:p.Glu362Gly	0					PES1_ENST00000354694.7_Missense_Mutation_p.E501G|PES1_ENST00000335214.6_Missense_Mutation_p.E496G|PES1_ENST00000402284.3_Missense_Mutation_p.E484G|PES1_ENST00000402281.1_Missense_Mutation_p.E362G	p.E362G	NM_001282328.1	NP_001269257.1	1	2	3	2.020961				15	2028	-				Missense_Mutation	SNP	ENST00000405677.1	1	1	hg19	c.1085A>G		1	.	.	.	.	.	.	.	.	.	.	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	4.020000	4.020000	0.467330	.	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	0	PES1	29305143	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	0.562450		TCGA-HV-A5A4-01A-11D-A26I-08	0.602	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	1	0	1	2	2	2	2	0	0	0	0	19	19	19	19	1	2	-20.000000	1	0.560000	NM_014303		0	46	46	0	103	103	0		1	1		0	0	19	0	0	1.000000	1	0	75	0	148	0	46	103
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.F5109L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F3865L|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																																						ENST00000591111.1	0.970000	0.730000	9.200000e-01	7.900000e-01	0.850000	0.858273	0.850000	0.860000																										0				1448						c.(14374-14376)ttC>ttG		titin							90.0	89.0	90.0					2																	179599224		1844	4107	5951	SO:0001583	missense	7273	0	0					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	chr2.hg19:g.179599224G>C	ENSP00000465570:p.Phe4792Leu	0					TTN_ENST00000342992.6_Missense_Mutation_p.F3865L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.F5109L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.F4792L			0	0	0	1.999884	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	50	14600	-			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	1	1	hg19	c.14376C>G		1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.405691	0.25378	.	.	ENSG00000155657	ENST00000342992	T	0.69685	-0.42	5.76	2.58	0.30949	5.760000	2.580000	0.309490	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	2	TTN	179307469	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	0.560000		TCGA-HV-A5A4-01A-11D-A26I-08	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	2	2	2	2	0	0	0	0	63	63	63	62	1	2	-20.000000	1	0.560000	NM_133378		0	154	154	0	488	488	1		1			0	0	63	0	0	1.000000	0	0	0	0	0	0	154	488
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								Untested	Somatic	Phase_I	WXS	none			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	0.480000	0.280000	4.300000e-01	3.300000e-01	0.370000	0.385664	0.370000	0.380000																										0				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	0	0					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	chr3.hg19:g.46008034T>C	ENSP00000296137:p.Gln931Arg	0					FYCO1_ENST00000535325.1_Missense_Mutation_p.Q931R	p.Q931R	NM_024513.3	NP_078789.2	0	0	0	1.997110	Q9BQS8	FYCO1_HUMAN		8	2997	-			B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	1	1	hg19	c.2792A>G	CCDS2734.1	0	.	.	.	.	.	.	.	.	.	.	T	0.969	-0.700659	0.03279	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.78481	-1.18;-1.18	5.17	1.53	0.23141	5.170000	1.530000	0.231410	.	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	0	FYCO1	45983038	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	0.560000		TCGA-HV-A5A4-01A-11D-A26I-08	0.627	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	1	0	1	2	2	2	2	0	0	0	0	71	71	71	71	1	2	-17.863500	1	0.560000	NM_024513		0	52	51	0	436	435	1		1	0		0	0	71	0	0	1.000000	7.968182e-01	0	1	0	26	0	52	436
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	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			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	0.910000	0.650000	8.500000e-01	7.100000e-01	0.770000	0.785730	0.770000	0.780000																										0				26						c.(796-798)atG>atT		protein kinase C, delta	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)						73.0	71.0	72.0					3																	53218900		2203	4300	6503	SO:0001583	missense	5580	0	0					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	chr3.hg19:g.53218900G>T	ENSP00000378217:p.Met266Ile	0					PRKCD_ENST00000330452.3_Missense_Mutation_p.M266I	p.M266I	NM_212539.1	NP_997704.1	0	0	0	1.997110	Q05655	KPCD_HUMAN		9	1126	+		Ovarian(412;0.0728)	B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	1	1	hg19	c.798G>T	CCDS2870.1	0	.	.	.	.	.	.	.	.	.	.	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	5.910000	5.910000	0.952730	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	0	PRKCD	53193940	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	0.560000		TCGA-HV-A5A4-01A-11D-A26I-08	0.597	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1	1	0	0	2	2	2	2	0	0	0	0	89	89	89	89	1	2	-20.000000	1	0.560000			0	105	103	0	374	369	1		1	1		0	0	89	0	0	1.000000	1	0	45	0	82	0	105	374
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	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			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_ENST00000535920.1_Missense_Mutation_p.R369C|PDZRN3_ENST00000466348.1_5'Flank|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	1.000000	0.950000	1	9.900000e-01	0.990000	0.996789	0.990000	1.000000																										0				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	0	0					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	chr3.hg19:g.73433778G>A	ENSP00000263666:p.Arg647Cys	0					PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304C|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304C	p.R647C	NM_015009.1	NP_055824.1	0	0	0	1.997110	Q9UPQ7	PZRN3_HUMAN		10	2053	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	1	1	hg19	c.1939C>T	CCDS33789.1	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	4.280000	4.280000	0.508680	.	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	0	PDZRN3	73516468	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	0.560000		TCGA-HV-A5A4-01A-11D-A26I-08	0.662	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	1	0	1	2	2	2	2	0	0	0	0	128	128	128	126	1	2	-13.161310	1	0.560000	XM_041363		0	223	220	0	520	515	1		1	0		0	0	128	0	0	1.000000	9.999699e-01	0	0	0	38	0	223	520
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000471454.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000492541.1_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	1.000000	0.900000	1	9.900000e-01	0.990000	0.992445	0.990000	1.000000																										0				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	0	0					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	chr3.hg19:g.120673880C>T	ENSP00000273666:p.Arg95*	0					STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.R95*	p.R95*	NM_014980.2	NP_055795.1	0	0	0	1.997110	Q9Y2K9	STB5L_HUMAN		3	554	+			Q4G1B4|Q6PIC3	Nonsense_Mutation	SNP	ENST00000273666.6	0	1	hg19	c.283C>T	CCDS43137.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910776	0.92178	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	.	.	.	5.55	2.53	0.30540	5.550000	2.530000	0.305400	.	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	2	STXBP5L	122156570	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	0.560000		TCGA-HV-A5A4-01A-11D-A26I-08	0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3	1	0	1	2	2	2	2	0	0	0	0	19	19	19	18	1	2	-20.000000	1	0.560000			0	76	75	0	169	166	0		1			0	0	19	0	0	1.000000	0	0	0	0	0	0	76	169
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.780000	9.600000e-01	8.400000e-01	0.890000	0.901519	0.890000	0.900000																										3	Substitution - Missense(3)	p.R230H(3)	large_intestine(2)|prostate(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	0	0					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	chr4.hg19:g.107845202C>T	ENSP00000285311:p.Arg230His	0					DKK2_ENST00000510463.1_Missense_Mutation_p.R184H|DKK2_ENST00000513208.1_Missense_Mutation_p.R130H	p.R230H	NM_014421.2	NP_055236.1	1	2	3	2.009687	Q9UBU2	DKK2_HUMAN		4	1394	-		Hepatocellular(203;0.217)	A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	1	1	hg19	c.689G>A	CCDS3675.1	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	5.640000	5.640000	0.866020	.	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	0	DKK2	108064651	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	0.561229		TCGA-HV-A5A4-01A-11D-A26I-08	0.488	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4	1	0	1	2	2	2	2	0	0	0	0	78	78	78	78	1	2	-20.000000	1	0.560000			0	192	191	0	571	570	1		1	0		0	0	78	0	0	1.000000	2.658525e-01	0	0	0	4	0	192	571
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	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			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	0.960000	0.690000	9.000000e-01	7.500000e-01	0.820000	0.829616	0.820000	0.820000				Dom	yes			Dom	yes		5	5q31-q32	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""				L	L	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP		MPD, AML, CMML, CML		0				75						c.(676-678)cGc>cAc		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)						126.0	110.0	115.0					5																	149513526		2203	4300	6503	SO:0001583	missense	5159	0	0					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	chr5.hg19:g.149513526C>T	ENSP00000261799:p.Arg226His	0						p.R226H	NM_002609.3	NP_002600.1	0	0	0	2.000883	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	5	1146	-		all_hematologic(541;0.224)	B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	1	1	hg19	c.677G>A	CCDS4303.1	0	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595320	0.86953	.	.	ENSG00000113721	ENST00000261799	T	0.13307	2.6	5.93	5.93	0.95920	5.930000	5.930000	0.959200	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	0	PDGFRB	149493719	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	0.560000		TCGA-HV-A5A4-01A-11D-A26I-08	0.542	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	1	0	1	2	2	2	2	0	0	0	0	44	44	44	43	1	2	-4.326728	1	0.560000	NM_002609		0	107	106	0	355	352	1		1	0		0	0	44	0	0	1.000000	1	0	0	0	194	0	107	355
ATP10B	23120	broad.mit.edu	37	5	160063232	160063232	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:160063232A>T	ENST00000327245.5	-	11	1931	c.1085T>A	c.(1084-1086)cTt>cAt	p.L362H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	362					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAGCCCCCAAGGGCACTGGG	0.522																																						ENST00000327245.5	0.620000	0.340000	5.500000e-01	4.000000e-01	0.470000	0.478979	0.470000	0.470000																										0				75						c.(1084-1086)cTt>cAt		ATPase, class V, type 10B							70.0	70.0	70.0					5																	160063232		1907	4128	6035	SO:0001583	missense	23120	0	0					g.chr5:160063232A>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1085T>A	chr5.hg19:g.160063232A>T	ENSP00000313600:p.Leu362His	0					CTC-348L5.1_ENST00000523598.1_RNA	p.L362H	NM_025153.2	NP_079429.2	0	0	0	2.000883	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	11	1931	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	1	0	hg19	c.1085T>A	CCDS43394.1	0	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236676	0.58886	.	.	ENSG00000118322	ENST00000327245	D	0.88818	-2.43	5.18	5.18	0.71444	5.180000	5.180000	0.714440	ATPase, P-type, ATPase-associated domain (1);	0.072522	0.56097	D	0.000029	D	0.94853	0.8337	M	0.88241	2.94	0.58432	D	0.999998	D;D;D;D	0.76494	0.998;0.967;0.999;0.999	D;P;D;D	0.71870	0.967;0.881;0.967;0.975	D	0.95432	0.8517	9	.	.	.	.	14.5426	0.68005	1.0:0.0:0.0:0.0	.	406;362;334;362	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	H	362	ENSP00000313600:L362H	.	L	-	2	0	0	ATP10B	159995810	159995810	1.000000	0.71417	0.140000	0.22221	0.752000	0.42762	5.287000	0.65645	2.087000	0.62958	0.454000	0.30748	CTT	0.560000		TCGA-HV-A5A4-01A-11D-A26I-08	0.522	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	1	0	0	2	2	2	2	0	0	0	0	44	44	44	44	1	2	-20.000000	1	0.560000	NM_025153		0	38	49	0	250	249	0		1	0		0	0	44	0	0	1.000000	5.026565e-02	0	0	0	3	0	38	250
ATP10B	23120	broad.mit.edu	37	5	160063251	160063251	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:160063251T>A	ENST00000327245.5	-	11	1912	c.1066A>T	c.(1066-1068)Agc>Tgc	p.S356C	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	356					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAGGAAGCTGCCATTGGCA	0.527																																						ENST00000327245.5	0.280000	0.090000	2.300000e-01	1.200000e-01	0.170000	0.183647	0.170000	0.170000																										0				75						c.(1066-1068)Agc>Tgc		ATPase, class V, type 10B							79.0	79.0	79.0					5																	160063251		1942	4144	6086	SO:0001583	missense	23120	0	0					g.chr5:160063251T>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1066A>T	chr5.hg19:g.160063251T>A	ENSP00000313600:p.Ser356Cys	0					CTC-348L5.1_ENST00000523598.1_RNA	p.S356C	NM_025153.2	NP_079429.2	0	0	0	2.000883	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	11	1912	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	1	0	hg19	c.1066A>T	CCDS43394.1	0	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967852	0.53507	.	.	ENSG00000118322	ENST00000327245	T	0.50001	0.76	5.18	-2.04	0.07343	5.180000	-2.040000	0.073430	ATPase, P-type, ATPase-associated domain (1);	0.959783	0.08779	N	0.895025	T	0.54711	0.1875	L	0.59967	1.855	0.09310	N	1	D;D;D;D	0.57899	0.973;0.981;0.967;0.978	P;P;P;P	0.61275	0.886;0.818;0.818;0.75	T	0.48490	-0.9031	9	.	.	.	.	5.29	0.15721	0.0:0.2169:0.2542:0.5289	.	400;356;328;356	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	C	356	ENSP00000313600:S356C	.	S	-	1	0	0	ATP10B	159995829	159995829	0.000000	0.05858	0.008000	0.14137	0.485000	0.33311	-0.543000	0.06084	-0.507000	0.06549	0.454000	0.30748	AGC	0.560000		TCGA-HV-A5A4-01A-11D-A26I-08	0.527	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	1	0	0	2	2	2	2	0	0	0	0	44	44	44	44	1	2	-14.787640	1	0.560000	NM_025153		0	12	0	0	238	235	0		0	0		0	0	44	0	0	0.998811	8.226738e-03	0	1	0	2	0	12	238
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000520908.1_Missense_Mutation_p.S1305R|DOCK2_ENST00000540750.1_Missense_Mutation_p.S874R|DOCK2_ENST00000523351.1_3'UTR	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	0.490000	0.220000	4.200000e-01	2.800000e-01	0.340000	0.357428	0.340000	0.340000																										0				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	0	0					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	chr5.hg19:g.169509808C>A	ENSP00000256935:p.Ser1813Arg	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	0	0	0	2.000883	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)	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	1	1	hg19	c.5439C>A	CCDS4371.1	0	.	.	.	.	.	.	.	.	.	.	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	4.300000	4.300000	0.512180	.	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	2	DOCK2	169442386	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	0.560000		TCGA-HV-A5A4-01A-11D-A26I-08	0.512	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	1	0	1	2	2	2	2	0	0	0	0	30	30	30	30	1	2	-10.081910	1	0.560000	NM_004946		0	24	24	0	223	221	0		1	0		0	0	30	0	0	1.000000	9.175972e-01	0	0	0	42	0	24	223
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	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000395289.2_Missense_Mutation_p.H255Y|BRD2_ENST00000443797.2_Missense_Mutation_p.H135Y|BRD2_ENST00000449085.2_Missense_Mutation_p.H208Y|BRD2_ENST00000395287.1_Missense_Mutation_p.H255Y|BRD2_ENST00000374831.4_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																																						ENST00000374825.4	1.000000	0.790000	9.800000e-01	8.500000e-01	0.910000	0.917765	0.910000	1.000000																										0				5						c.(763-765)Cac>Tac		bromodomain containing 2							119.0	110.0	113.0					6																	32944179		1511	2709	4220	SO:0001583	missense	6046	0	0					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	chr6.hg19:g.32944179C>T	ENSP00000363958:p.His255Tyr	0					BRD2_ENST00000395289.2_Missense_Mutation_p.H255Y|BRD2_ENST00000374831.4_Missense_Mutation_p.H255Y|BRD2_ENST00000443797.2_Missense_Mutation_p.H135Y|BRD2_ENST00000449085.2_Missense_Mutation_p.H208Y|BRD2_ENST00000395287.1_Missense_Mutation_p.H255Y	p.H255Y	NM_005104.3	NP_005095.1	0	0	0	1.981248	P25440	BRD2_HUMAN		6	2464	+			A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	1	1	hg19	c.763C>T	CCDS4762.1	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	5.630000	5.630000	0.862330	.	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	0	BRD2	33052157	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	0.557522		TCGA-HV-A5A4-01A-11D-A26I-08	0.562	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2	1	0	1	2	2	2	2	0	0	0	0	63	63	63	61	1	2	-20.000000	1	0.560000			0	151	148	0	432	431	1		1	1		0	0	63	0	0	1.000000	1	0	74	0	177	0	151	432
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								Untested	Somatic	Phase_I	WXS	none			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	RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Silent_p.S430S|BACH2_ENST00000537989.1_Silent_p.S430S	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	0.920000	0.620000	8.500000e-01	6.900000e-01	0.770000	0.779926	0.770000	0.770000																										0				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	0	0					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	chr6.hg19:g.90660535G>A		0					RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.S430S|BACH2_ENST00000343122.3_Silent_p.S430S	p.S430S	NM_021813.2	NP_068585.1	0	0	0	1.981248	Q9BYV9	BACH2_HUMAN		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)	E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	1	1	hg19	c.1290C>T	CCDS5026.1	0																																																																																								0.557522		TCGA-HV-A5A4-01A-11D-A26I-08	0.592	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	1	0	1	2	2	2	2	0	0	0	0	56	56	56	56	1	2	-20.000000	1	0.560000	NM_021813		0	80	80	0	286	285	0		1	0		0	0	56	0	0	1.000000	0	0	0	0	1	0	80	286
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								Untested	Somatic	Phase_I	WXS	none			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_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	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	1.000000	0.840000	1	9.100000e-01	0.970000	0.964534	0.970000	1.000000																										0				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	42	121412	47				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	chr6.hg19:g.152614868C>T	ENSP00000356224:p.Arg5956His	0	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.R5568H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5956H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5885H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R480H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R5885H	p.R5956H	NM_182961.3	NP_892006.3	0	0	0	1.981248	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	95	18468	-		Ovarian(120;0.0955)	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	1	1	hg19	c.17867G>A	CCDS5236.2	1	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	5.370000	5.370000	0.771650	.	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	0	SYNE1	152656561	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	0.557522		TCGA-HV-A5A4-01A-11D-A26I-08	0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	2	2	2	2	0	0	0	0	49	49	49	48	1	2	-8.328959	1	0.560000	NM_182961		0	155	155	0	405	403	1		1	0		0	0	49	0	0	1.000000	8.100668e-01	0	0	0	10	0	155	405
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	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			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																																						ENST00000430969.1	1.000000	0.580000	1	7.600000e-01	0.960000	0.904234	0.960000	1.000000																										0				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	0	0					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	chr7.hg19:g.5410118C>A	ENSP00000395538:p.Glu1369Asp	0					TNRC18_ENST00000399537.4_Missense_Mutation_p.E1369D	p.E1369D	NM_001080495.2	NP_001073964.2	1	2	3	2.006727	O15417	TNC18_HUMAN		11	4455	-		Ovarian(82;0.142)	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	0	1	hg19	c.4107G>T	CCDS47534.1	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	4.720000	3.840000	0.442390	.	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	2	TNRC18	5376644	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	0.561229		TCGA-HV-A5A4-01A-11D-A26I-08	0.662	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	2	2	2	2	0	0	0	0	8	8	8	8	1	2	-20.000000	1	0.560000			0	14	14	0	38	38	0		1	1		0	0	8	0	0	0.999891	9.999860e-01	0	24	0	43	0	14	38
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.940000	1	9.900000e-01	0.990000	0.996283	0.990000	1.000000																										0				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	0	0					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	chr7.hg19:g.78636417C>T	ENSP00000346151:p.Arg136His	0					MAGI2_ENST00000419488.1_Missense_Mutation_p.R136H|MAGI2_ENST00000522391.1_Missense_Mutation_p.R136H|MAGI2-AS2_ENST00000411616.1_RNA	p.R136H	NM_012301.3	NP_036433.2	1	2	3	2.006727	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)	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	1	1	hg19	c.407G>A	CCDS5594.1	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	5.290000	5.290000	0.746850	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	0	MAGI2	78474353	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	0.561229		TCGA-HV-A5A4-01A-11D-A26I-08	0.373	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	1	0	1	2	2	2	2	0	0	0	0	41	41	41	39	1	2	-20.000000	1	0.560000	NM_012301		0	179	178	0	415	413	1		1	0		0	0	41	0	0	1.000000	0	0	0	0	1	0	179	415
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	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			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																																						ENST00000222982.4	1.000000	0.950000	1	9.900000e-01	0.990000	0.997466	0.990000	1.000000																										0				16						c.(1021-1023)aAt>aGt		cytochrome P450, family 3, subfamily A, polypeptide 5	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)						109.0	100.0	103.0					7																	99258126		2203	4300	6503	SO:0001583	missense	1577	1	121412	37				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	chr7.hg19:g.99258126T>C	ENSP00000222982:p.Asn341Ser	0					CYP3A5_ENST00000343703.5_Missense_Mutation_p.N331S|CYP3A5_ENST00000339843.2_3'UTR	p.N341S	NM_000777.3	NP_000768.1	1	2	3	2.006727	P20815	CP3A5_HUMAN		10	1121	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	ENST00000222982.4	1	1	hg19	c.1022A>G	CCDS5672.1	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	4.510000	2.070000	0.269550	.	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	0	CYP3A5	99096062	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	0.561229		TCGA-HV-A5A4-01A-11D-A26I-08	0.458	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1	1	0	1	2	2	2	2	0	0	0	0	63	63	63	63	1	2	-20.000000	1	0.560000			0	198	197	0	455	452	1		1	1		0	0	63	0	0	1.000000	1	0	327	0	381	0	198	455
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								Untested	Somatic	Phase_I	WXS	none			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			0	0																														0				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	0	0					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	chr9.hg19:g.215392C>T	ENSP00000371824:p.Arg2Lys						DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000453981.1_Intron	p.R2K	NM_152569.2	NP_689782.2					Q5T8R8	CI066_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	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)	Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	1	1	hg19	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	3.020000	2.080000	0.270320	.	.	.	.	.	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	0	C9orf66	205392	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			TCGA-HV-A5A4-01A-11D-A26I-08	0.597	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	1	0	1	2	2	2	2	0	0	0	0	48	48	48	48	1	2	-20.000000	1	0.560000	NM_152569		0	86	86	0	243	242	0		1			0	0	48	0	0	1.000000	0	0	0	0	0	0	86	243
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	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000442668.2_Silent_p.A313A|NOL8_ENST00000542053.1_Silent_p.A245A|NOL8_ENST00000545558.1_Silent_p.A313A|NOL8_ENST00000358855.4_Silent_p.A245A					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					ENST00000535387.1	1.000000	0.870000	1	9.900000e-01	0.990000	0.988896	0.990000	1.000000																										0				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	15	120782	39				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	chr9.hg19:g.95077968C>T		0					NOL8_ENST00000358855.4_Silent_p.A245A|NOL8_ENST00000545558.1_Silent_p.A313A|NOL8_ENST00000542053.1_Silent_p.A245A|NOL8_ENST00000442668.2_Silent_p.A313A	p.A313A			0	0	0	1.988549				6	938	-				Silent	SNP	ENST00000535387.1	1	1	hg19	c.939G>A	CCDS47993.1	1																																																																																								0.557522		TCGA-HV-A5A4-01A-11D-A26I-08	0.368	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	1	0	1	2	2	2	2	0	0	0	0	10	10	10	10	1	2	-20.000000	1	0.560000	NM_017948		0	47	47	0	101	100	0		1	1		0	0	10	0	0	1.000000	9.978953e-01	0	8	0	16	0	47	101
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000545473.1_Missense_Mutation_p.V35M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1052M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1052M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.V243M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371367.5_Missense_Mutation_p.V35M	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																																						ENST00000371372.1	1.000000	0.470000	8.900000e-01	5.900000e-01	0.730000	0.743961	0.730000	1.000000																										0				80						c.(3151-3153)Gtg>Atg		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)						56.0	64.0	61.0					9																	140919489		2178	4268	6446	SO:0001583	missense	774	0	0					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	chr9.hg19:g.140919489G>A	ENSP00000360423:p.Val1051Met	0					CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371367.5_Missense_Mutation_p.V35M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.V243M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1052M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1052M|CACNA1B_ENST00000545473.1_Missense_Mutation_p.V35M	p.V1051M	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	1	2	3	2.013390	Q00975	CAC1B_HUMAN		20	3296	+	all_cancers(76;0.166)		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	1	1	hg19	c.3151G>A	CCDS59522.1	0	.	.	.	.	.	.	.	.	.	.	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	5.020000	5.020000	0.671250	.	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	0	CACNA1B	140039310	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	0.561229		TCGA-HV-A5A4-01A-11D-A26I-08	0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	1	0	1	2	2	2	2	0	0	0	0	12	12	12	12	1	2	-20.000000	1	0.560000	NM_000718		0	19	19	0	74	73	1		1			0	0	12	0	0	0.999995	0	0	0	0	0	0	19	74
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								Untested	Somatic	Phase_I	WXS	none			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	0.980000	0.760000	9.300000e-01	8.100000e-01	0.870000	0.879432	0.870000	0.880000																										0				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	5	121136	40				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	chrX.hg19:g.111697971G>A								p.T5T	NM_001004308.2	NP_001004308.2	0	1	1		Q6ZR62	ZCH16_HUMAN		1	245	+			B2RPG1	Silent	SNP	ENST00000340433.2	1	1	hg19	c.15G>A	CCDS35369.1	1																																																																																								0.560000		TCGA-HV-A5A4-01A-11D-A26I-08	0.458	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	1	0	1	2	2	2	2	0	0	0	0	96	96	96	96	1	2	-6.478828	1	0.560000	NM_001004308		0	197	196	0	604	602	1		1			0	0	96	0	0	1.000000	0	0	0	0	0	0	197	604
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	0.880000	1	9.400000e-01	0.990000	0.980924	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T21T(1)	lung(1)	20						c.(61-63)acG>acA		vestigial-like family member 1							101.0	96.0	98.0					X																	135618242		2203	4300	6503	SO:0001819	synonymous_variant	51442	4	121410	36				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	chrX.hg19:g.135618242G>A								p.T21T	NM_016267.3	NP_057351.1	0	1	1		Q99990	VGLL1_HUMAN		2	233	+	Acute lymphoblastic leukemia(192;0.000127)		Q5H915	Silent	SNP	ENST00000370634.3	1	1	hg19	c.63G>A	CCDS14658.1	1																																																																																								0.560000		TCGA-HV-A5A4-01A-11D-A26I-08	0.493	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	1	0	1	2	2	2	2	0	0	0	0	75	75	75	74	1	2	-10.310530	1	0.560000	NM_016267		0	206	206	0	523	516	1		1	0		0	0	75	0	0	1.000000	8.046467e-02	0	0	0	2	0	206	523
