#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NBPF20	100288142	broad.mit.edu	37	1	148344686	148344686	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:148344686T>C	ENST00000369202.1	-	3	429	c.232A>G	c.(232-234)Aag>Gag	p.K78E	NBPF20_ENST00000414710.2_Missense_Mutation_p.K78E			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	78						cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						TTCTCCTCCTTGAACTGTCGC	0.522																																						ENST00000369202.1																			0				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						c.(232-234)Aag>Gag		neuroblastoma breakpoint family, member 20							121.0	122.0	121.0					1																	148344686		1239	2983	4222	SO:0001583	missense	100288142							g.chr1:148344686T>C		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.232A>G	1.37:g.148344686T>C	ENSP00000358203:p.Lys78Glu					NBPF20_ENST00000414710.2_Missense_Mutation_p.K78E	p.K78E							3	429	-									Missense_Mutation	SNP	ENST00000369202.1	37	c.232A>G		.	.	.	.	.	.	.	.	.	.	.	1.059	-0.673319	0.03403	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000414710	T;T;T	0.04083	4.0;4.09;3.71	0.521	0.521	0.17046	.	.	.	.	.	T	0.01695	0.0054	.	.	.	0.21290	N	0.999731	B;P	0.44521	0.225;0.837	B;P	0.47044	0.018;0.535	T	0.49978	-0.8881	6	0.13853	T	0.58	.	.	.	.	.	78;78	Q6P3W6;F5H1Q5	NBPFA_HUMAN;.	E	78	ENSP00000358203:K78E;ENSP00000358189:K78E;ENSP00000389520:K78E	ENSP00000358189:K78E	K	-	1	0	NBPF20	146711310	0.000000	0.05858	0.213000	0.23690	0.053000	0.15095	-0.612000	0.05616	0.442000	0.26555	0.155000	0.16302	AAG		0.522	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2			28	719	0	0	0	1	0	28	719				
FGF11	2256	broad.mit.edu	37	17	7346396	7346396	+	Splice_Site	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:7346396G>A	ENST00000293829.4	+	5	1203	c.609G>A	c.(607-609)gtG>gtA	p.V203V	FGF11_ENST00000575235.1_Splice_Site_p.V79V|FGF11_ENST00000575082.1_Splice_Site_p.V79V|FGF11_ENST00000575398.1_Splice_Site_p.V79V|FGF11_ENST00000572907.1_Splice_Site_p.V79V|CHRNB1_ENST00000536404.2_5'Flank|RP11-104H15.8_ENST00000576615.1_RNA|CHRNB1_ENST00000576360.1_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000306071.2_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	203					cell-cell signaling (GO:0007267)|nervous system development (GO:0007399)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				CCTTCACAGTGGCCATGTACC	0.597																																						ENST00000293829.4																			0				central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6						c.e5-1		fibroblast growth factor 11							116.0	100.0	105.0					17																	7346396		2203	4300	6503	SO:0001630	splice_region_variant	2256				cell-cell signaling|nervous system development|signal transduction		growth factor activity	g.chr17:7346396G>A		CCDS11105.1	17p13.1	2008-07-18			ENSG00000161958	ENSG00000161958			3667	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 3"""	601514				8790420	Standard	NM_004112		Approved	FHF3, FLJ16061, MGC45269, MGC102953	uc002ggz.3	Q92914	OTTHUMG00000108136	ENST00000293829.4:c.608-1G>A	17.37:g.7346396G>A						FGF11_ENST00000572907.1_Splice_Site_p.V79_splice|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575331.1_3'UTR|FGF11_ENST00000575235.1_Splice_Site_p.V79_splice|FGF11_ENST00000575398.1_Splice_Site_p.V79_splice|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575082.1_Splice_Site_p.V79_splice	p.V203_splice	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN			5	1203	+		Prostate(122;0.157)	203					Q2YDX8	Splice_Site	SNP	ENST00000293829.4	37	c.607_splice	CCDS11105.1																																																																																				0.597	FGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226939.3	NM_004112	Silent	14	17	0	0	0	1	0	14	17				
GDF3	9573	broad.mit.edu	37	12	7848318	7848318	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:7848318G>A	ENST00000329913.3	-	1	54	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	3					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGCAAGAAACGAAGCATGGCC	0.468																																						ENST00000329913.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(7-9)Cgt>Tgt		growth differentiation factor 3							32.0	32.0	32.0					12																	7848318		2203	4300	6503	SO:0001583	missense	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7848318G>A	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.7C>T	12.37:g.7848318G>A	ENSP00000331745:p.Arg3Cys						p.R3C	NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN			1	54	-			3					Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	c.7C>T	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687123	0.29962	.	.	ENSG00000184344	ENST00000329913	T	0.81163	-1.46	4.28	3.36	0.38483	.	2587.340000	0.00465	U	0.000116	T	0.64416	0.2596	N	0.08118	0	0.09310	N	1	B	0.33904	0.431	B	0.24974	0.057	T	0.60915	-0.7168	10	0.59425	D	0.04	.	7.384	0.26872	0.1194:0.0:0.8806:0.0	.	3	Q9NR23	GDF3_HUMAN	C	3	ENSP00000331745:R3C	ENSP00000331745:R3C	R	-	1	0	GDF3	7739585	0.002000	0.14202	0.385000	0.26158	0.004000	0.04260	0.967000	0.29344	2.088000	0.63022	0.563000	0.77884	CGT		0.468	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			9	26	0	0	0	1	0	9	26				
ZNF76	7629	broad.mit.edu	37	6	35262323	35262323	+	Missense_Mutation	SNP	A	A	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr6:35262323A>C	ENST00000373953.3	+	13	1851	c.1585A>C	c.(1585-1587)Aac>Cac	p.N529H	ZNF76_ENST00000339411.5_Missense_Mutation_p.N474H|ZNF76_ENST00000440666.2_Missense_Mutation_p.N503H	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	529					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GGCCACAGCCAACGGAACGCA	0.517											OREG0017373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(1585-1587)Aac>Cac		zinc finger protein 76							150.0	119.0	130.0					6																	35262323		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35262323A>C	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1585A>C	6.37:g.35262323A>C	ENSP00000363064:p.Asn529His		OREG0017373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	854	ZNF76_ENST00000440666.2_Missense_Mutation_p.N503H|ZNF76_ENST00000339411.5_Missense_Mutation_p.N474H	p.N529H	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			13	1851	+			529					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.1585A>C	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935519	0.52866	.	.	ENSG00000065029	ENST00000373953;ENST00000440666;ENST00000339411	T;T;T	0.13901	2.57;2.55;2.78	5.1	5.1	0.69264	.	0.000000	0.48286	D	0.000187	T	0.08268	0.0206	L	0.61218	1.895	0.47584	D	0.999468	B;B	0.15473	0.01;0.013	B;B	0.17433	0.018;0.007	T	0.03750	-1.1007	10	0.45353	T	0.12	.	11.5629	0.50788	0.8513:0.1487:0.0:0.0	.	474;529	P36508-2;P36508	.;ZNF76_HUMAN	H	529;503;474	ENSP00000363064:N529H;ENSP00000392243:N503H;ENSP00000344097:N474H	ENSP00000344097:N474H	N	+	1	0	ZNF76	35370301	1.000000	0.71417	0.989000	0.46669	0.899000	0.52679	5.547000	0.67249	2.145000	0.66743	0.533000	0.62120	AAC		0.517	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		8	25	0	0	0	1	0	8	25				
SLC16A5	9121	broad.mit.edu	37	17	73096475	73096475	+	Silent	SNP	C	C	T	rs200730771		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:73096475C>T	ENST00000450736.2	+	4	1132	c.717C>T	c.(715-717)tgC>tgT	p.C239C	SLC16A5_ENST00000538213.2_Silent_p.C279C|SLC16A5_ENST00000329783.4_Silent_p.C239C|SLC16A5_ENST00000580123.1_Silent_p.C239C			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	239					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CAGGCTACTGCGTGTACATAC	0.627																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(715-717)tgC>tgT		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)	C		1,4405	2.1+/-5.4	0,1,2202	205.0	163.0	177.0		717	-1.9	0.1	17		177	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC16A5	NM_004695.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		239/506	73096475	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096475C>T	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.717C>T	17.37:g.73096475C>T						SLC16A5_ENST00000538213.2_Silent_p.C279C|SLC16A5_ENST00000580123.1_Silent_p.C239C|SLC16A5_ENST00000329783.4_Silent_p.C239C	p.C239C			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1132	+	all_lung(278;0.226)		239					B4E288	Silent	SNP	ENST00000450736.2	37	c.717C>T	CCDS11713.1																																																																																				0.627	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		28	18	0	0	0	1	0	28	18				
ZNF407	55628	broad.mit.edu	37	18	72343909	72343909	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr18:72343909G>A	ENST00000299687.5	+	1	934	c.934G>A	c.(934-936)Gca>Aca	p.A312T	ZNF407_ENST00000309902.6_Missense_Mutation_p.A312T|ZNF407_ENST00000582337.1_Missense_Mutation_p.A312T|ZNF407_ENST00000577538.1_Missense_Mutation_p.A312T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TAAATCAATAGCAAAGAATAG	0.333																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(934-936)Gca>Aca		zinc finger protein 407							108.0	111.0	110.0					18																	72343909		1830	4088	5918	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343909G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.934G>A	18.37:g.72343909G>A	ENSP00000299687:p.Ala312Thr					ZNF407_ENST00000577538.1_Missense_Mutation_p.A312T|ZNF407_ENST00000309902.6_Missense_Mutation_p.A312T|ZNF407_ENST00000582337.1_Missense_Mutation_p.A312T	p.A312T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	934	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	312					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.934G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630541	0.28978	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.10288	2.89;3.38	5.18	0.139	0.14798	.	1.526620	0.06562	U	0.746968	T	0.11922	0.0290	L	0.53249	1.67	0.09310	N	1	B;B;B	0.20052	0.008;0.041;0.005	B;B;B	0.17722	0.019;0.011;0.005	T	0.29792	-1.0000	10	0.25106	T	0.35	.	10.8037	0.46504	0.4797:0.0:0.5203:0.0	.	312;312;312	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	T	312	ENSP00000299687:A312T;ENSP00000310359:A312T	ENSP00000299687:A312T	A	+	1	0	ZNF407	70472897	0.000000	0.05858	0.016000	0.15963	0.091000	0.18340	0.471000	0.22100	2.583000	0.87209	0.655000	0.94253	GCA		0.333	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		45	44	0	0	0	1	0	45	44				
ZP4	57829	broad.mit.edu	37	1	238048505	238048505	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:238048505A>T	ENST00000366570.4	-	9	1429	c.1271T>A	c.(1270-1272)tTt>tAt	p.F424Y	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	424	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGTTCACAAAGCTGAAGGT	0.527																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(1270-1272)tTt>tAt		zona pellucida glycoprotein 4							91.0	93.0	92.0					1																	238048505		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238048505A>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1271T>A	1.37:g.238048505A>T	ENSP00000355529:p.Phe424Tyr					RP11-193H5.1_ENST00000450451.1_RNA	p.F424Y	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		9	1429	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	424			ZP.		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.1271T>A	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284372	0.59867	.	.	ENSG00000116996	ENST00000366570	D	0.91180	-2.8	5.1	5.1	0.69264	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.96266	0.8782	H	0.94698	3.57	0.51233	D	0.999917	D	0.76494	0.999	D	0.71870	0.975	D	0.97050	0.9763	10	0.72032	D	0.01	-21.6889	12.8727	0.57975	1.0:0.0:0.0:0.0	.	424	Q12836	ZP4_HUMAN	Y	424	ENSP00000355529:F424Y	ENSP00000355529:F424Y	F	-	2	0	ZP4	236115128	1.000000	0.71417	0.726000	0.30738	0.104000	0.19210	5.703000	0.68340	1.927000	0.55829	0.533000	0.62120	TTT		0.527	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			6	55	0	0	0	1	0	6	55				
DUOX2	50506	broad.mit.edu	37	15	45392063	45392063	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr15:45392063T>A	ENST00000603300.1	-	25	3414	c.3212A>T	c.(3211-3213)gAc>gTc	p.D1071V	DUOX2_ENST00000389039.6_Missense_Mutation_p.D1071V	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1071	Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGTGCAATGTCCGAGGGTGG	0.607																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(3211-3213)gAc>gTc		dual oxidase 2							94.0	93.0	93.0					15																	45392063		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45392063T>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3212A>T	15.37:g.45392063T>A	ENSP00000475084:p.Asp1071Val					DUOX2_ENST00000603300.1_Missense_Mutation_p.D1071V	p.D1071V			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	25	3597	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1071			Interaction with TXNDC11 (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.3212A>T	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.078464	0.36662	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.6	0.0791	0.14414	.	0.201365	0.53938	D	0.000057	T	0.50188	0.1601	L	0.40543	1.245	0.58432	D	0.999999	B	0.33212	0.402	B	0.40228	0.323	T	0.43589	-0.9382	9	0.72032	D	0.01	-9.4528	10.6874	0.45852	0.0:0.5906:0.0:0.4094	.	1071	Q9NRD8	DUOX2_HUMAN	V	1071	.	ENSP00000373691:D1071V	D	-	2	0	DUOX2	43179355	1.000000	0.71417	0.501000	0.27601	0.418000	0.31294	2.196000	0.42686	-0.600000	0.05790	-1.450000	0.01041	GAC		0.607	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		8	24	0	0	0	1	0	8	24				
SLC7A10	56301	broad.mit.edu	37	19	33702228	33702228	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:33702228C>T	ENST00000253188.4	-	7	1065	c.919G>A	c.(919-921)Ggg>Agg	p.G307R		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	307					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					AGCTTCTCCCCGAAGGTCTGG	0.622																																						ENST00000253188.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(919-921)Ggg>Agg		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							62.0	58.0	59.0					19																	33702228		2203	4300	6503	SO:0001583	missense	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33702228C>T	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.919G>A	19.37:g.33702228C>T	ENSP00000253188:p.Gly307Arg						p.G307R	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN			7	1065	-	Esophageal squamous(110;0.137)		307					B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	c.919G>A	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849461	0.91277	.	.	ENSG00000130876	ENST00000253188	D	0.90133	-2.62	5.13	5.13	0.70059	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96629	0.8900	M	0.93375	3.41	0.39816	D	0.972777	D	0.89917	1.0	D	0.87578	0.998	D	0.98321	1.0528	10	0.87932	D	0	.	17.5701	0.87933	0.0:1.0:0.0:0.0	.	307	Q9NS82	AAA1_HUMAN	R	307	ENSP00000253188:G307R	ENSP00000253188:G307R	G	-	1	0	SLC7A10	38394068	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.783000	0.85696	2.408000	0.81797	0.467000	0.42956	GGG		0.622	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		9	90	0	0	0	1	0	9	90				
UNC45B	146862	broad.mit.edu	37	17	33513437	33513437	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:33513437G>C	ENST00000268876.5	+	20	2752	c.2655G>C	c.(2653-2655)aaG>aaC	p.K885N	UNC45B_ENST00000394570.2_Missense_Mutation_p.K883N|UNC45B_ENST00000378449.1_Missense_Mutation_p.K804N|UNC45B_ENST00000591048.1_Missense_Mutation_p.K804N|RP11-799D4.2_ENST00000590144.1_RNA|UNC45B_ENST00000433649.1_Missense_Mutation_p.K883N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	885					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGCCAAGAAGCTGGTGGAGA	0.582																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(2653-2655)aaG>aaC		unc-45 homolog B (C. elegans)							94.0	81.0	85.0					17																	33513437		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33513437G>C	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2655G>C	17.37:g.33513437G>C	ENSP00000268876:p.Lys885Asn					UNC45B_ENST00000591048.1_Missense_Mutation_p.K804N|UNC45B_ENST00000378449.1_Missense_Mutation_p.K804N|UNC45B_ENST00000433649.1_Missense_Mutation_p.K883N|UNC45B_ENST00000394570.2_Missense_Mutation_p.K883N	p.K885N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			20	2752	+		Ovarian(249;0.17)	885					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.2655G>C	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405577	0.42715	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.32988	3.59;1.43;3.04	5.75	1.46	0.22682	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	M	0.86953	2.85	0.45704	D	0.998617	D;D;D	0.76494	0.999;0.997;0.998	D;D;P	0.83275	0.996;0.933;0.907	T	0.58912	-0.7552	10	0.66056	D	0.02	-33.5123	10.0408	0.42158	0.4074:0.0:0.5926:0.0	.	804;883;885	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	N	885;885;883;804	ENSP00000268876:K885N;ENSP00000412840:K883N;ENSP00000367710:K804N	ENSP00000268876:K885N	K	+	3	2	UNC45B	30537550	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.046000	0.30354	0.351000	0.24027	-0.136000	0.14681	AAG		0.582	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		14	17	0	0	0	1	0	14	17				
INSRR	3645	broad.mit.edu	37	1	156814525	156814525	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:156814525C>T	ENST00000368195.3	-	13	2944	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	850	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TACTTGATTTCGTACTTGAGG	0.607																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2548-2550)Gaa>Aaa		insulin receptor-related receptor							71.0	71.0	71.0					1																	156814525		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156814525C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2548G>A	1.37:g.156814525C>T	ENSP00000357178:p.Glu850Lys					NTRK1_ENST00000392302.2_Intron	p.E850K	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			13	2944	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		850			Fibronectin type-III 3.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.2548G>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852152	0.91355	.	.	ENSG00000027644	ENST00000368195	T	0.58358	0.34	4.86	3.94	0.45596	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45606	D	0.000350	T	0.64091	0.2567	.	.	.	0.52099	D	0.999947	D	0.89917	1.0	D	0.77557	0.99	T	0.68591	-0.5368	9	0.72032	D	0.01	.	11.2692	0.49129	0.0:0.9095:0.0:0.0905	.	850	P14616	INSRR_HUMAN	K	850	ENSP00000357178:E850K	ENSP00000357178:E850K	E	-	1	0	INSRR	155081149	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	6.081000	0.71309	2.246000	0.74042	0.563000	0.77884	GAA		0.607	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		6	105	0	0	0	1	0	6	105				
ELMO2	63916	broad.mit.edu	37	20	44997569	44997569	+	Silent	SNP	A	A	G			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr20:44997569A>G	ENST00000290246.6	-	21	2117	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P	ELMO2_ENST00000372176.1_Silent_p.P553P|ELMO2_ENST00000439931.2_Silent_p.P653P|ELMO2_ENST00000396391.1_Silent_p.P641P|ELMO2_ENST00000454865.2_Silent_p.P373P|ELMO2_ENST00000352077.2_Silent_p.P639P|ELMO2_ENST00000445496.2_Silent_p.P458P	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	641	PH.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGGTCTCATCAGGGTCATACA	0.468																																						ENST00000372176.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1657-1659)ccT>ccC		engulfment and cell motility 2							174.0	165.0	168.0					20																	44997569		2203	4300	6503	SO:0001819	synonymous_variant	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:44997569A>G	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1923T>C	20.37:g.44997569A>G						ELMO2_ENST00000290246.6_Silent_p.P641P|ELMO2_ENST00000454865.2_Silent_p.P373P|ELMO2_ENST00000352077.2_Silent_p.P639P|ELMO2_ENST00000396391.1_Silent_p.P641P|ELMO2_ENST00000439931.2_Silent_p.P653P|ELMO2_ENST00000445496.2_Silent_p.P458P	p.P553P			Q96JJ3	ELMO2_HUMAN			21	2127	-		Myeloproliferative disorder(115;0.0122)	641			PH.		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	ENST00000290246.6	37	c.1659T>C	CCDS13398.1																																																																																				0.468	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		4	174	0	0	0	1	0	4	174				
MAGI3	260425	broad.mit.edu	37	1	114189210	114189210	+	Missense_Mutation	SNP	A	A	G	rs534853362		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:114189210A>G	ENST00000307546.9	+	12	2176	c.2101A>G	c.(2101-2103)Aaa>Gaa	p.K701E	MAGI3_ENST00000369617.4_Missense_Mutation_p.K726E|MAGI3_ENST00000369615.1_Missense_Mutation_p.K701E|MAGI3_ENST00000369611.4_Missense_Mutation_p.K701E	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	726					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGATCCCCAAAATTGGATCC	0.383																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2101-2103)Aaa>Gaa		membrane associated guanylate kinase, WW and PDZ domain containing 3							101.0	100.0	101.0					1																	114189210		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114189210A>G	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2101A>G	1.37:g.114189210A>G	ENSP00000304604:p.Lys701Glu					MAGI3_ENST00000307546.9_Missense_Mutation_p.K701E|MAGI3_ENST00000369611.4_Missense_Mutation_p.K701E|MAGI3_ENST00000369617.4_Missense_Mutation_p.K726E	p.K701E	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	2163	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	726					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.2101A>G	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710288	0.89018	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.42449	0.1203	L	0.61218	1.895	0.80722	D	1	P;P;D	0.52996	0.947;0.77;0.957	P;B;P	0.55667	0.481;0.344;0.781	T	0.46062	-0.9218	10	0.87932	D	0	-19.3514	15.4028	0.74855	1.0:0.0:0.0:0.0	.	701;701;726	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	E	726;701;701;701	ENSP00000358630:K726E;ENSP00000304604:K701E;ENSP00000358628:K701E;ENSP00000358624:K701E	ENSP00000304604:K701E	K	+	1	0	MAGI3	113990733	1.000000	0.71417	0.192000	0.23308	0.972000	0.66771	8.495000	0.90481	2.039000	0.60335	0.460000	0.39030	AAA		0.383	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		23	116	0	0	0	1	0	23	116				
MGP	4256	broad.mit.edu	37	12	15038675	15038675	+	Silent	SNP	A	A	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:15038675A>C	ENST00000539261.1	-	1	185	c.51T>G	c.(49-51)acT>acG	p.T17T	MGP_ENST00000228938.5_Silent_p.T17T|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	17					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|ossification (GO:0001503)|regulation of bone mineralization (GO:0030500)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|structural constituent of bone (GO:0008147)			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CATAACACAAAGTTACTACCG	0.473																																						ENST00000539261.1																			0				large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						c.(49-51)acT>acG		matrix Gla protein							133.0	109.0	117.0					12																	15038675		2203	4300	6503	SO:0001819	synonymous_variant	4256				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone	g.chr12:15038675A>C	M58549	CCDS8669.1, CCDS53752.1	12p12.3	2006-12-15			ENSG00000111341	ENSG00000111341			7060	protein-coding gene	gene with protein product		154870				2394711	Standard	NM_000900		Approved		uc021qvr.1	P08493	OTTHUMG00000168740	ENST00000539261.1:c.51T>G	12.37:g.15038675A>C						MGP_ENST00000228938.5_Silent_p.T17T|C12orf60_ENST00000527783.1_Intron	p.T17T	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN			1	185	-			17					A0M8W5|B2R519|J3KMX7|Q2TU41|Q567P9|Q6ICN5	Silent	SNP	ENST00000539261.1	37	c.51T>G	CCDS8669.1																																																																																				0.473	MGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400864.1	NM_000900		20	16	0	0	0	1	0	20	16				
APOL6	80830	broad.mit.edu	37	22	36055263	36055263	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr22:36055263G>A	ENST00000409652.4	+	3	928	c.652G>A	c.(652-654)Gtg>Atg	p.V218M		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	218					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CCGCGTGCAGGTGCAAAAGGC	0.582																																						ENST00000409652.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						c.(652-654)Gtg>Atg		apolipoprotein L, 6							69.0	68.0	69.0					22																	36055263		2203	4300	6503	SO:0001583	missense	80830				lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	g.chr22:36055263G>A	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.652G>A	22.37:g.36055263G>A	ENSP00000386280:p.Val218Met						p.V218M	NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN			3	928	+			218					Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Missense_Mutation	SNP	ENST00000409652.4	37	c.652G>A	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401619	0.42613	.	.	ENSG00000221963	ENST00000409652	T	0.07567	3.18	4.18	0.821	0.18799	.	0.565754	0.15887	N	0.239752	T	0.22205	0.0535	M	0.75884	2.315	0.09310	N	1	D	0.59767	0.986	D	0.66847	0.947	T	0.03807	-1.1002	10	0.51188	T	0.08	-3.5875	7.7906	0.29119	0.1712:0.136:0.6928:0.0	.	218	Q9BWW8	APOL6_HUMAN	M	218	ENSP00000386280:V218M	ENSP00000386280:V218M	V	+	1	0	APOL6	34385209	0.018000	0.18449	0.000000	0.03702	0.002000	0.02628	0.045000	0.14013	-0.061000	0.13110	-0.797000	0.03246	GTG		0.582	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		4	80	0	0	0	1	0	4	80				
PKHD1L1	93035	broad.mit.edu	37	8	110412313	110412313	+	Missense_Mutation	SNP	G	G	A	rs369930599		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr8:110412313G>A	ENST00000378402.5	+	13	1125	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	341	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGAGGGAGAGGCCTGAAGCT	0.403										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1021-1023)Ggc>Agc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1		G	SER/GLY	0,3720		0,0,1860	113.0	113.0	113.0		1021	5.3	1.0	8		113	3,8203		0,3,4100	no	missense	PKHD1L1	NM_177531.4	56	0,3,5960	AA,AG,GG		0.0366,0.0,0.0252	probably-damaging	341/4244	110412313	3,11923	1860	4103	5963	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110412313G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1021G>A	8.37:g.110412313G>A	ENSP00000367655:p.Gly341Ser	HNSCC(38;0.096)					p.G341S	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		13	1125	+			341			IPT/TIG 3.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1021G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880396	0.91740	0.0	3.66E-4	ENSG00000205038	ENST00000378402	D	0.96300	-3.97	5.3	5.3	0.74995	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	D	0.96112	0.8733	M	0.76170	2.325	0.50467	D	0.99987	B	0.28400	0.21	B	0.35039	0.194	D	0.95453	0.8536	10	0.72032	D	0.01	.	16.4525	0.83996	0.0:0.0:1.0:0.0	.	341	Q86WI1	PKHL1_HUMAN	S	341	ENSP00000367655:G341S	ENSP00000367655:G341S	G	+	1	0	PKHD1L1	110481489	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.233000	0.78125	2.457000	0.83068	0.563000	0.77884	GGC		0.403	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		76	98	0	0	0	1	0	76	98				
FANCB	2187	broad.mit.edu	37	X	14877435	14877435	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:14877435G>T	ENST00000324138.3	-	3	1126	c.973C>A	c.(973-975)Ctt>Att	p.L325I	FANCB_ENST00000398334.1_Missense_Mutation_p.L325I	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	325					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACTAAGCTAAGTTTTTCCCAT	0.343								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(973-975)Ctt>Att	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							69.0	62.0	64.0					X																	14877435		2203	4299	6502	SO:0001583	missense	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14877435G>T	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.973C>A	X.37:g.14877435G>T	ENSP00000326819:p.Leu325Ile					FANCB_ENST00000324138.3_Missense_Mutation_p.L325I	p.L325I	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			4	1240	-	Hepatocellular(33;0.183)		325					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.973C>A	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	G	5.065	0.197717	0.09652	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.67	-6.08	0.02151	.	0.309485	0.34386	N	0.004008	T	0.10937	0.0267	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08027	-1.0742	9	0.31617	T	0.26	-1.5289	5.9815	0.19409	0.0971:0.5417:0.1557:0.2055	.	325	Q8NB91	FANCB_HUMAN	I	325	.	ENSP00000326819:L325I	L	-	1	0	FANCB	14787356	0.909000	0.30893	0.000000	0.03702	0.356000	0.29392	0.504000	0.22626	-1.356000	0.02183	-0.209000	0.12711	CTT		0.343	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		12	10	1	0	7.03913e-09	1	7.47907e-09	12	10				
NFE2	4778	broad.mit.edu	37	12	54689025	54689025	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:54689025G>A	ENST00000540264.2	-	1	517	c.8C>T	c.(7-9)cCg>cTg	p.P3L	NFE2_ENST00000312156.4_Missense_Mutation_p.P3L|NFE2_ENST00000435572.2_Missense_Mutation_p.P3L|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.P3L			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	3	Required for interaction with MAPK8. {ECO:0000250}.|Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGGAGGACACGGGGACATCCT	0.547																																						ENST00000540264.2																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						c.(7-9)cCg>cTg		nuclear factor, erythroid 2							139.0	100.0	113.0					12																	54689025		2203	4300	6503	SO:0001583	missense	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54689025G>A	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.8C>T	12.37:g.54689025G>A	ENSP00000439120:p.Pro3Leu					NFE2_ENST00000553070.1_Missense_Mutation_p.P3L|NFE2_ENST00000435572.2_Missense_Mutation_p.P3L|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.P3L	p.P3L			Q16621	NFE2_HUMAN			1	517	-			3			Required for interaction with MAPK8 (By similarity).|Transactivation domain.		Q07720|Q6ICV9	Missense_Mutation	SNP	ENST00000540264.2	37	c.8C>T	CCDS8876.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.797011	0.50208	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070;ENST00000553198	.	.	.	4.85	3.94	0.45596	.	0.201150	0.30830	N	0.008791	T	0.53498	0.1800	L	0.47716	1.5	0.46849	D	0.99922	B	0.16802	0.019	B	0.06405	0.002	T	0.55792	-0.8085	9	0.87932	D	0	-16.113	10.586	0.45284	0.0:0.0:0.8075:0.1924	.	3	Q16621	NFE2_HUMAN	L	3	.	ENSP00000312436:P3L	P	-	2	0	NFE2	52975292	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	4.286000	0.58995	1.390000	0.46547	-0.311000	0.09066	CCG		0.547	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163		16	28	0	0	0	1	0	16	28				
NBPF1	55672	broad.mit.edu	37	1	16890645	16890645	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:16890645T>A	ENST00000430580.2	-	29	4100	c.3213A>T	c.(3211-3213)gaA>gaT	p.E1071D		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1051	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCTGCAAGACTTCAGGCTCTT	0.468																																						ENST00000430580.2																			0											c.(3211-3213)gaA>gaT		neuroblastoma breakpoint family, member 1							453.0	365.0	395.0					1																	16890645		2203	4299	6502	SO:0001583	missense	55672					cytoplasm		g.chr1:16890645T>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3213A>T	1.37:g.16890645T>A	ENSP00000474456:p.Glu1071Asp						p.E1071D	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	29	4100	-			1051			NBPF 7.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.3213A>T																																																																																					0.468	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		27	1998	0	0	0	1	0	27	1998				
ARHGAP8	23779	broad.mit.edu	37	22	45244837	45244837	+	Silent	SNP	C	C	T	rs528651618		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr22:45244837C>T	ENST00000389774.2	+	11	1008	c.867C>T	c.(865-867)taC>taT	p.Y289Y	ARHGAP8_ENST00000389773.5_Silent_p.Y380Y|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.Y468Y|ARHGAP8_ENST00000336963.4_Silent_p.Y258Y|ARHGAP8_ENST00000356099.6_Silent_p.Y258Y|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.Y389Y|ARHGAP8_ENST00000517296.3_Silent_p.Y468Y	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	289	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TTGACGACTACGGGGACATTC	0.607																																						ENST00000517296.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29						c.(1402-1404)taC>taT		Rho GTPase activating protein 8							199.0	156.0	171.0					22																	45244837		2203	4300	6503	SO:0001819	synonymous_variant	23779							g.chr22:45244837C>T	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.867C>T	22.37:g.45244837C>T						ARHGAP8_ENST00000389773.5_Silent_p.Y380Y|ARHGAP8_ENST00000389774.2_Silent_p.Y289Y|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.Y389Y|ARHGAP8_ENST00000356099.6_Silent_p.Y258Y|ARHGAP8_ENST00000336963.4_Silent_p.Y258Y|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.Y468Y	p.Y468Y						UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)	15	1404	+		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)						A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000389774.2	37	c.1404C>T	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	C	3.255	-0.152345	0.06585	.	.	ENSG00000248405	ENST00000515632	.	.	.	3.84	-7.34	0.01427	.	.	.	.	.	T	0.59059	0.2166	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.63251	-0.6679	4	.	.	.	.	13.0105	0.58729	0.0:0.5366:0.0:0.4634	.	.	.	.	M	312	.	.	T	+	2	0	PRR5-ARHGAP8	43623501	0.000000	0.05858	0.650000	0.29550	0.545000	0.35147	-2.551000	0.00928	-1.566000	0.01673	-1.740000	0.00687	ACG		0.607	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		80	57	0	0	0	1	0	80	57				
GLOD4	51031	broad.mit.edu	37	17	679148	679148	+	Silent	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:679148G>A	ENST00000301328.5	-	5	341	c.318C>T	c.(316-318)ctC>ctT	p.L106L	GLOD4_ENST00000301329.6_Silent_p.L91L|GLOD4_ENST00000536578.1_Silent_p.L82L			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	106						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGCTAGAAGCGAGCGTGATTC	0.493																																						ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(271-273)ctC>ctT		glyoxalase domain containing 4							93.0	90.0	91.0					17																	679148		2203	4300	6503	SO:0001819	synonymous_variant	51031					mitochondrion		g.chr17:679148G>A	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.318C>T	17.37:g.679148G>A						GLOD4_ENST00000301328.5_Silent_p.L106L|GLOD4_ENST00000536578.1_Silent_p.L82L	p.L91L	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	4	358	-			106					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	ENST00000301328.5	37	c.273C>T																																																																																					0.493	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		19	79	0	0	0	1	0	19	79				
IGSF1	3547	broad.mit.edu	37	X	130409574	130409574	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:130409574C>T	ENST00000361420.3	-	16	3141	c.3062G>A	c.(3061-3063)gGg>gAg	p.G1021E	IGSF1_ENST00000370903.3_Missense_Mutation_p.G1026E|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.G1012E|IGSF1_ENST00000370904.1_Missense_Mutation_p.G1012E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1021	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGGGAATGCCCCGTCATTACT	0.522																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(3034-3036)gGg>gAg		immunoglobulin superfamily, member 1							135.0	113.0	120.0					X																	130409574		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409574C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3062G>A	X.37:g.130409574C>T	ENSP00000355010:p.Gly1021Glu					IGSF1_ENST00000370903.3_Missense_Mutation_p.G1026E|IGSF1_ENST00000370910.1_Missense_Mutation_p.G1012E|IGSF1_ENST00000361420.3_Missense_Mutation_p.G1021E	p.G1012E			Q8N6C5	IGSF1_HUMAN			22	3945	-			1021			Ig-like C2-type 10.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3035G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735853	0.30774	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00808	5.67;5.67;5.67;5.67	5.32	4.39	0.52855	Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000213	T	0.02688	0.0081	L	0.45422	1.42	0.31399	N	0.676938	D;B;D	0.89917	0.999;0.392;1.0	D;B;D	0.91635	0.988;0.162;0.999	T	0.38564	-0.9655	10	0.34782	T	0.22	.	9.2286	0.37423	0.2147:0.7853:0.0:0.0	.	1012;465;1021	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	E	1012;1021;1012;1026	ENSP00000359947:G1012E;ENSP00000355010:G1021E;ENSP00000359941:G1012E;ENSP00000359940:G1026E	ENSP00000355010:G1021E	G	-	2	0	IGSF1	130237255	0.002000	0.14202	0.969000	0.41365	0.076000	0.17211	0.964000	0.29306	2.562000	0.86427	0.600000	0.82982	GGG		0.522	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			44	23	0	0	0	1	0	44	23				
PTPRH	5794	broad.mit.edu	37	19	55718097	55718097	+	Silent	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:55718097G>A	ENST00000376350.3	-	3	334	c.312C>T	c.(310-312)gaC>gaT	p.D104D	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.D104D	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	104	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D104D(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TATTTACTCCGTCTTTCTCCA	0.507																																						ENST00000376350.3																			1	Substitution - coding silent(1)	p.D104D(1)	central_nervous_system(1)	breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(310-312)gaC>gaT		protein tyrosine phosphatase, receptor type, H							181.0	174.0	176.0					19																	55718097		2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55718097G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.312C>T	19.37:g.55718097G>A						PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.D104D	p.D104D	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	3	334	-		Renal(1328;0.245)	104			Fibronectin type-III 1.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.312C>T	CCDS33110.1																																																																																				0.507	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			46	212	0	0	0	1	0	46	212				
MFSD1	64747	broad.mit.edu	37	3	158525196	158525196	+	Silent	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr3:158525196C>T	ENST00000264266.8	+	5	446	c.384C>T	c.(382-384)gcC>gcT	p.A128A	MFSD1_ENST00000415822.2_Silent_p.A177A|MFSD1_ENST00000392813.4_Silent_p.A138A			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	128					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTGTTTTTGCCCTGGGTGGAA	0.279																																					Pancreas(62;1186 1654 36636 37908)	ENST00000415822.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26						c.(529-531)gcC>gcT		major facilitator superfamily domain containing 1							184.0	186.0	185.0					3																	158525196		2203	4299	6502	SO:0001819	synonymous_variant	64747				transmembrane transport	integral to membrane		g.chr3:158525196C>T	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.384C>T	3.37:g.158525196C>T						MFSD1_ENST00000392813.4_Silent_p.A138A|MFSD1_ENST00000264266.8_Silent_p.A128A	p.A177A	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		5	672	+			128					B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Silent	SNP	ENST00000264266.8	37	c.531C>T																																																																																					0.279	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		4	164	0	0	0	1	0	4	164				
NGF	4803	broad.mit.edu	37	1	115829175	115829175	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:115829175C>A	ENST00000369512.2	-	3	410	c.242G>T	c.(241-243)cGa>cTa	p.R81L	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	81					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGAACGGAGTCGCCGCTTTTT	0.642																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(241-243)cGa>cTa		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						42.0	46.0	45.0					1																	115829175		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829175C>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.242G>T	1.37:g.115829175C>A	ENSP00000358525:p.Arg81Leu					RP4-663N10.1_ENST00000425449.1_RNA	p.R81L	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	410	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	81					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.242G>T	CCDS882.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236170	0.39498	.	.	ENSG00000134259	ENST00000369512	T	0.66280	-0.2	5.06	4.15	0.48705	.	0.058013	0.64402	D	0.000003	T	0.47322	0.1439	M	0.85859	2.78	0.34395	D	0.694611	P	0.44090	0.826	B	0.35278	0.199	T	0.60332	-0.7284	10	0.87932	D	0	-12.0674	9.2031	0.37272	0.0:0.8294:0.0:0.1706	.	81	P01138	NGF_HUMAN	L	81	ENSP00000358525:R81L	ENSP00000358525:R81L	R	-	2	0	NGF	115630698	0.994000	0.37717	0.775000	0.31657	0.734000	0.41952	3.310000	0.51911	1.264000	0.44198	0.467000	0.42956	CGA		0.642	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		7	37	1	0	0.0381472	1	0.0386014	7	37				
PIPSL	266971	broad.mit.edu	37	10	95720745	95720745	+	RNA	SNP	C	C	A	rs183136411	byFrequency	TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr10:95720745C>A	ENST00000480546.1	-	0	552					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										ACAATGAACTCATCGTCGCTG	0.493													C|||	3	0.000599042	0.0	0.0	5008	,	,		20921	0.0		0.003	False		,,,				2504	0.0					ENST00000480546.1																			0																																																			266971							g.chr10:95720745C>A	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720745C>A								NR_002319.2						0	552	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.493	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		9	35	1	0	0.307466	1	0.307466	9	35				
TMEM31	203562	broad.mit.edu	37	X	102968788	102968788	+	Silent	SNP	C	C	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:102968788C>A	ENST00000319560.6	+	3	560	c.369C>A	c.(367-369)atC>atA	p.I123I	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	123						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						GACTGCCCATCATACTCCACC	0.408																																						ENST00000319560.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						c.(367-369)atC>atA		transmembrane protein 31							175.0	127.0	143.0					X																	102968788		2203	4300	6503	SO:0001819	synonymous_variant	203562					integral to membrane		g.chrX:102968788C>A	BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.369C>A	X.37:g.102968788C>A						GLRA4_ENST00000372617.4_Intron	p.I123I	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN			3	560	+			123					Q8NHR4	Silent	SNP	ENST00000319560.6	37	c.369C>A	CCDS35359.1																																																																																				0.408	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541		57	24	1	0	4.6707e-30	1	5.36499e-30	57	24				
MAGEA10	4109	broad.mit.edu	37	X	151303875	151303875	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:151303875T>C	ENST00000370323.4	-	4	534	c.218A>G	c.(217-219)gAg>gGg	p.E73G	MAGEA10_ENST00000244096.3_Missense_Mutation_p.E73G|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	73						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGAAACCTCCTCTGGGGT	0.527																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(217-219)gAg>gGg		melanoma antigen family A, 10							113.0	115.0	114.0					X																	151303875		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303875T>C		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.218A>G	X.37:g.151303875T>C	ENSP00000359347:p.Glu73Gly					MAGEA10_ENST00000244096.3_Missense_Mutation_p.E73G|RP11-1007I13.4_ENST00000509345.2_RNA	p.E73G	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	534	-	Acute lymphoblastic leukemia(192;6.56e-05)		73						Missense_Mutation	SNP	ENST00000370323.4	37	c.218A>G	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	T	3.955	-0.011518	0.07727	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.05199	3.48;3.48;3.48;3.48	1.75	0.465	0.16711	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.12817	0.0311	M	0.79614	2.46	0.09310	N	1	B	0.28584	0.216	B	0.42771	0.397	T	0.39396	-0.9616	9	0.45353	T	0.12	.	3.5173	0.07730	0.0:0.2262:0.0:0.7738	.	73	P43363	MAGAA_HUMAN	G	73	ENSP00000359347:E73G;ENSP00000244096:E73G;ENSP00000406161:E73G;ENSP00000391977:E73G	ENSP00000244096:E73G	E	-	2	0	MAGEA10	151054531	0.004000	0.15560	0.009000	0.14445	0.046000	0.14306	0.614000	0.24314	0.068000	0.16574	0.238000	0.17879	GAG		0.527	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		30	57	0	0	0	1	0	30	57				
SHC3	53358	broad.mit.edu	37	9	91657091	91657091	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr9:91657091C>T	ENST00000375835.4	-	10	1516	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	SHC3_ENST00000375831.1_5'Flank|SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	404	CH1.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CTGTAGATGTCCGAGGACCCT	0.557																																						ENST00000375835.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						c.(1210-1212)Gac>Aac		SHC (Src homology 2 domain containing) transforming protein 3							108.0	113.0	111.0					9																	91657091		2203	4300	6503	SO:0001583	missense	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91657091C>T	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1210G>A	9.37:g.91657091C>T	ENSP00000364995:p.Asp404Asn					SHC3_ENST00000375830.1_5'UTR	p.D404N	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN			10	1516	-			404			CH1.		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	c.1210G>A	CCDS6681.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190353	0.78789	.	.	ENSG00000148082	ENST00000375835	T	0.32272	1.46	4.91	4.91	0.64330	.	0.402465	0.24274	N	0.039963	T	0.54303	0.1850	M	0.73962	2.25	0.80722	D	1	D	0.67145	0.996	D	0.65987	0.94	T	0.47535	-0.9110	10	0.25751	T	0.34	-43.0684	18.6412	0.91396	0.0:1.0:0.0:0.0	.	404	Q92529	SHC3_HUMAN	N	404	ENSP00000364995:D404N	ENSP00000364995:D404N	D	-	1	0	SHC3	90846911	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	6.845000	0.75394	2.693000	0.91896	0.655000	0.94253	GAC		0.557	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		20	98	0	0	0	1	0	20	98				
RAB6C	84084	broad.mit.edu	37	2	130738117	130738117	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:130738117G>C	ENST00000410061.2	+	1	883	c.429G>C	c.(427-429)agG>agC	p.R143S	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	143	Required for centrosome localization.				cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AGGGAGAGAGGAAAGCCAAAG	0.448																																						ENST00000410061.2																			0				large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5						c.(427-429)agG>agC		RAB6C, member RAS oncogene family							243.0	232.0	236.0					2																	130738117		2203	4300	6503	SO:0001583	missense	84084				protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:130738117G>C	AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.429G>C	2.37:g.130738117G>C	ENSP00000387307:p.Arg143Ser						p.R143S	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN			1	883	+	Colorectal(110;0.1)		143					Q53RU3|Q6FIF7|Q9P128	Missense_Mutation	SNP	ENST00000410061.2	37	c.429G>C	CCDS46408.1	.	.	.	.	.	.	.	.	.	.	.	9.760	1.169930	0.21621	.	.	ENSG00000222014	ENST00000410061	T	0.76186	-1.0	0.332	0.332	0.15938	Small GTP-binding protein domain (1);	.	.	.	.	T	0.48205	0.1487	N	0.11154	0.105	0.42532	D	0.993041	B	0.15473	0.013	B	0.18561	0.022	T	0.20371	-1.0277	9	0.12766	T	0.61	-4.3413	6.5423	0.22387	2.0E-4:0.0:0.9998:0.0	.	143	Q9H0N0	RAB6C_HUMAN	S	143	ENSP00000387307:R143S	ENSP00000387307:R143S	R	+	3	2	RAB6C	130454587	1.000000	0.71417	0.002000	0.10522	0.073000	0.16967	1.595000	0.36708	0.433000	0.26313	0.121000	0.15741	AGG		0.448	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331384.1	NM_032144		40	201	0	0	0	1	0	40	201				
CEP89	84902	broad.mit.edu	37	19	33392179	33392179	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:33392179C>T	ENST00000305768.5	-	15	1793	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	569					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CGTTCAAGTTCGGCTTCCAGT	0.408																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(1705-1707)Gaa>Aaa		centrosomal protein 89kDa							205.0	200.0	202.0					19																	33392179		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33392179C>T	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1705G>A	19.37:g.33392179C>T	ENSP00000306105:p.Glu569Lys						p.E569K	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			15	1793	-			569					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.1705G>A	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820090	0.50633	.	.	ENSG00000121289	ENST00000305768	D	0.88354	-2.37	5.15	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.93877	0.8041	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93579	0.6911	10	0.45353	T	0.12	-10.4681	13.4821	0.61342	0.0:0.923:0.0:0.0769	.	569	Q96ST8	CEP89_HUMAN	K	569	ENSP00000306105:E569K	ENSP00000306105:E569K	E	-	1	0	CEP89	38084019	1.000000	0.71417	0.048000	0.18961	0.048000	0.14542	5.569000	0.67391	1.289000	0.44618	0.650000	0.86243	GAA		0.408	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		119	157	0	0	0	1	0	119	157				
HERC6	55008	broad.mit.edu	37	4	89311908	89311908	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr4:89311908A>G	ENST00000264346.7	+	4	600	c.541A>G	c.(541-543)Atc>Gtc	p.I181V	HERC6_ENST00000273960.3_Missense_Mutation_p.I181V|HERC6_ENST00000380265.5_Missense_Mutation_p.I181V	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	181					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CCTGGAGGGGATCCCACTGGC	0.637																																						ENST00000380265.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(541-543)Atc>Gtc		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							50.0	58.0	55.0					4																	89311908		2203	4300	6503	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89311908A>G	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.541A>G	4.37:g.89311908A>G	ENSP00000264346:p.Ile181Val					HERC6_ENST00000273960.3_Missense_Mutation_p.I181V|HERC6_ENST00000264346.7_Missense_Mutation_p.I181V	p.I181V	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	4	724	+		Hepatocellular(203;0.114)	181					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.541A>G	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.958473	0.74016	.	.	ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346	D;D;D	0.83335	-1.71;-1.71;-1.71	4.8	4.8	0.61643	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	D	0.000002	T	0.80701	0.4673	N	0.05510	-0.035	0.36391	D	0.862548	D;D	0.71674	0.998;0.998	D;D	0.87578	0.997;0.998	T	0.81856	-0.0740	10	0.23302	T	0.38	.	13.7469	0.62881	1.0:0.0:0.0:0.0	.	181;181	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	V	181	ENSP00000369617:I181V;ENSP00000273960:I181V;ENSP00000264346:I181V	ENSP00000264346:I181V	I	+	1	0	HERC6	89530931	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	4.492000	0.60334	2.145000	0.66743	0.372000	0.22366	ATC		0.637	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			6	26	0	0	0	1	0	6	26				
SPATA31D5P	347127	broad.mit.edu	37	9	84531821	84531821	+	RNA	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr9:84531821G>A	ENST00000527857.1	+	0	1843					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		TTTCTGTTTAGGTGTGTGGAT	0.488																																						ENST00000527857.1																			0																																																			347127							g.chr9:84531821G>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84531821G>A								NR_026851.1						0	1843	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.488	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		10	32	0	0	0	1	0	10	32				
CLIP3	25999	broad.mit.edu	37	19	36508625	36508625	+	Silent	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:36508625G>A	ENST00000360535.4	-	11	1610	c.1383C>T	c.(1381-1383)gtC>gtT	p.V461V	CLIP3_ENST00000593074.1_Silent_p.V461V|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	461	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.				chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGACACCGAAGACAGAGCCAT	0.597																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1381-1383)gtC>gtT		CAP-GLY domain containing linker protein 3							108.0	100.0	103.0					19																	36508625		2203	4300	6503	SO:0001819	synonymous_variant	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36508625G>A	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1383C>T	19.37:g.36508625G>A						CLIP3_ENST00000593074.1_Silent_p.V461V|AC002116.7_ENST00000586962.1_RNA	p.V461V	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		11	1610	-	Esophageal squamous(110;0.162)		461			CAP-Gly 2.		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Silent	SNP	ENST00000360535.4	37	c.1383C>T	CCDS12486.1																																																																																				0.597	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		13	63	0	0	0	1	0	13	63				
NLRP7	199713	broad.mit.edu	37	19	55435237	55435237	+	Silent	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:55435237C>T	ENST00000590030.1	-	9	2854	c.2814G>A	c.(2812-2814)ttG>ttA	p.L938L	NLRP7_ENST00000588756.1_Silent_p.L995L|NLRP7_ENST00000446217.1_Silent_p.L1023L|NLRP7_ENST00000328092.5_Silent_p.L967L|NLRP7_ENST00000592784.1_Silent_p.L995L|NLRP7_ENST00000448121.2_Silent_p.L967L|NLRP7_ENST00000340844.2_Silent_p.L938L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	938							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CATAGGTCTTCAACCTGGAGG	0.423																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(3067-3069)ttG>ttA		NLR family, pyrin domain containing 7							90.0	86.0	88.0					19																	55435237		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55435237C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2814G>A	19.37:g.55435237C>T						NLRP7_ENST00000448121.2_Silent_p.L967L|NLRP7_ENST00000340844.2_Silent_p.L938L|NLRP7_ENST00000328092.5_Silent_p.L967L|NLRP7_ENST00000592784.1_Silent_p.L995L|NLRP7_ENST00000590030.1_Silent_p.L938L|NLRP7_ENST00000588756.1_Silent_p.L995L	p.L1023L			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	13	3471	-			0					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.3069G>A	CCDS33109.1																																																																																				0.423	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		9	109	0	0	0	1	0	9	109				
TAS2R9	50835	broad.mit.edu	37	12	10961888	10961888	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:10961888C>A	ENST00000240691.2	-	1	879	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	263					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATCATCAACACTAATTTTCCC	0.413																																						ENST00000240691.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(787-789)Gtg>Ttg		taste receptor, type 2, member 9							126.0	119.0	121.0					12																	10961888		2203	4300	6503	SO:0001583	missense	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10961888C>A	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.787G>T	12.37:g.10961888C>A	ENSP00000240691:p.Val263Leu						p.V263L	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN			1	879	-			263					Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	c.787G>T	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	C	0.212	-1.035523	0.02029	.	.	ENSG00000121381	ENST00000240691	T	0.00700	5.82	3.75	0.825	0.18824	GPCR, rhodopsin-like superfamily (1);	1.528870	0.05208	U	0.506207	T	0.00754	0.0025	N	0.25485	0.75	0.09310	N	1	P	0.36086	0.536	B	0.40702	0.338	T	0.43861	-0.9365	10	0.08381	T	0.77	.	2.3049	0.04172	0.1997:0.4962:0.1937:0.1104	.	263	Q9NYW1	TA2R9_HUMAN	L	263	ENSP00000240691:V263L	ENSP00000240691:V263L	V	-	1	0	TAS2R9	10853155	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.614000	0.00414	0.174000	0.19809	0.650000	0.86243	GTG		0.413	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			24	96	1	0	7.87624e-14	1	8.58309e-14	24	96				
MGAM	8972	broad.mit.edu	37	7	141708491	141708491	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr7:141708491C>A	ENST00000549489.2	+	3	408	c.313C>A	c.(313-315)Cag>Aag	p.Q105K	MGAM_ENST00000475668.2_Missense_Mutation_p.Q105K	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	105	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATCCCTGACCAGCCGCCAAC	0.378																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(313-315)Cag>Aag		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						66.0	66.0	66.0					7																	141708491		1861	4101	5962	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141708491C>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.313C>A	7.37:g.141708491C>A	ENSP00000447378:p.Gln105Lys					MGAM_ENST00000549489.2_Missense_Mutation_p.Q105K	p.Q105K			O43451	MGA_HUMAN			3	367	+	Melanoma(164;0.0272)		105			P-type 1.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.313C>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564124	0.45694	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;T;T	0.53640	0.61;0.61;0.61	4.33	4.33	0.51752	P-type trefoil, conserved site (1);P-type trefoil (4);	0.000000	0.42821	D	0.000657	T	0.38374	0.1038	L	0.46947	1.48	0.33203	D	0.552374	B	0.22480	0.07	B	0.17098	0.017	T	0.41787	-0.9489	10	0.18710	T	0.47	.	12.6238	0.56618	0.0:1.0:0.0:0.0	.	105	O43451	MGA_HUMAN	K	105	ENSP00000419372:Q105K;ENSP00000447378:Q105K;ENSP00000417103:Q105K	ENSP00000373973:Q105K	Q	+	1	0	MGAM	141354960	0.877000	0.30153	0.999000	0.59377	0.968000	0.65278	0.272000	0.18644	2.707000	0.92482	0.655000	0.94253	CAG		0.378	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			19	41	1	0	2.94398e-08	1	3.08936e-08	19	41				
MSX1	4487	broad.mit.edu	37	4	4864431	4864431	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr4:4864431G>A	ENST00000382723.4	+	2	707	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	158					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCTCAGGGCGGCTGAGCCCC	0.557																																						ENST00000382723.4																			0				endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(472-474)cGg>cAg		msh homeobox 1							58.0	75.0	69.0					4																	4864431		2172	4236	6408	SO:0001583	missense	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864431G>A	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.473G>A	4.37:g.4864431G>A	ENSP00000372170:p.Arg158Gln					MSX1_ENST00000468421.1_3'UTR	p.R158Q	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	707	+			152					A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	ENST00000382723.4	37	c.473G>A	CCDS3378.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.04|18.04	3.533758|3.533758	0.64972|0.64972	.|.	.|.	ENSG00000163132|ENSG00000163132	ENST00000468421|ENST00000382723	.|D	.|0.94576	.|-3.46	4.96|4.96	4.11|4.11	0.48088|0.48088	.|Homeodomain-related (1);	.|0.054936	.|0.64402	.|D	.|0.000001	D|D	0.92711|0.92711	0.7683|0.7683	M|M	0.79123|0.79123	2.44|2.44	0.24203|0.24203	N|N	0.9955|0.9955	.|P	.|0.41910	.|0.764	.|B	.|0.35240	.|0.198	D|D	0.86176|0.86176	0.1603|0.1603	6|10	0.87932|0.41790	D|T	0|0.15	-12.0256|-12.0256	13.1928|13.1928	0.59722|0.59722	0.0784:0.0:0.9216:0.0|0.0784:0.0:0.9216:0.0	.|.	.|152	.|P28360	.|MSX1_HUMAN	S|Q	61|158	.|ENSP00000372170:R158Q	ENSP00000446928:G61S|ENSP00000372170:R158Q	G|R	+|+	1|2	0|0	MSX1|MSX1	4915332|4915332	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	7.481000|7.481000	0.81124|0.81124	1.210000|1.210000	0.43336|0.43336	0.462000|0.462000	0.41574|0.41574	GGC|CGG		0.557	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			26	79	0	0	0	1	0	26	79				
VAV1	7409	broad.mit.edu	37	19	6854107	6854107	+	Missense_Mutation	SNP	C	C	T	rs535090610		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:6854107C>T	ENST00000602142.1	+	26	2564	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	VAV1_ENST00000539284.1_Missense_Mutation_p.R731W|VAV1_ENST00000304076.2_Missense_Mutation_p.R806W|VAV1_ENST00000599806.1_Missense_Mutation_p.R773W|VAV1_ENST00000596764.1_Missense_Mutation_p.R796W	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	828	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GATCTATGGCCGGGTGAGGCA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		16517	0.0		0.0	False		,,,				2504	0.001					ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(2416-2418)Cgg>Tgg		vav 1 guanine nucleotide exchange factor							69.0	60.0	63.0					19																	6854107		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6854107C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2482C>T	19.37:g.6854107C>T	ENSP00000472929:p.Arg828Trp					VAV1_ENST00000599806.1_Missense_Mutation_p.R773W|VAV1_ENST00000596764.1_Missense_Mutation_p.R796W|VAV1_ENST00000539284.1_Missense_Mutation_p.R731W|VAV1_ENST00000602142.1_Missense_Mutation_p.R828W	p.R806W	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			25	2510	+			828			SH3 2.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.2416C>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537597	0.65085	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T	0.52295	0.67	4.35	4.35	0.52113	Src homology-3 domain (4);	0.074277	0.51477	D	0.000096	T	0.74061	0.3667	H	0.94222	3.51	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.963;0.998;0.996;0.999	T	0.79738	-0.1677	10	0.87932	D	0	.	9.608	0.39645	0.2085:0.7914:0.0:0.0	.	731;828;773;828	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	W	828;731	ENSP00000443242:R731W	ENSP00000302269:R828W	R	+	1	2	VAV1	6805107	0.988000	0.35896	1.000000	0.80357	0.989000	0.77384	0.767000	0.26575	2.278000	0.76064	0.561000	0.74099	CGG		0.627	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			14	37	0	0	0	1	0	14	37				
ITGB7	3695	broad.mit.edu	37	12	53589909	53589909	+	Silent	SNP	G	G	A	rs372436147		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:53589909G>A	ENST00000267082.5	-	7	1122	c.891C>T	c.(889-891)gaC>gaT	p.D297D	ITGB7_ENST00000422257.3_Silent_p.D297D|ITGB7_ENST00000550743.2_Silent_p.D297D|ITGB7_ENST00000338737.4_Silent_p.D297D	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	297	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAACTTCCCGTCCCCAGCTG	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20336	0.0		0.0	False		,,,				2504	0.0					ENST00000267082.5																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(889-891)gaC>gaT		integrin, beta 7		G		1,4405	2.1+/-5.4	0,1,2202	104.0	93.0	97.0		891	-2.3	1.0	12		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGB7	NM_000889.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		297/799	53589909	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53589909G>A		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.891C>T	12.37:g.53589909G>A						ITGB7_ENST00000338737.4_Silent_p.D297D|ITGB7_ENST00000422257.3_Silent_p.D297D|ITGB7_ENST00000550743.2_Silent_p.D297D	p.D297D	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN			7	1122	-			297			VWFA.		Q9UCP7|Q9UCS7	Silent	SNP	ENST00000267082.5	37	c.891C>T	CCDS8849.1																																																																																				0.552	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			16	69	0	0	0	1	0	16	69				
TAOK2	9344	broad.mit.edu	37	16	29994473	29994473	+	Silent	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr16:29994473C>T	ENST00000308893.4	+	12	2123	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	TAOK2_ENST00000543033.1_Silent_p.S360S|TAOK2_ENST00000416441.2_Silent_p.S187S|TAOK2_ENST00000279394.3_Silent_p.S360S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	360	Ser-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGTCCATCAGCGCCTCCAGCC	0.632																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1078-1080)agC>agT		TAO kinase 2							74.0	84.0	81.0					16																	29994473		2197	4300	6497	SO:0001819	synonymous_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994473C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1080C>T	16.37:g.29994473C>T						TAOK2_ENST00000279394.3_Silent_p.S360S|TAOK2_ENST00000543033.1_Silent_p.S360S|TAOK2_ENST00000416441.2_Silent_p.S187S	p.S360S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2123	+			360			Ser-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	c.1080C>T	CCDS10663.1																																																																																				0.632	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		42	103	0	0	0	1	0	42	103				
MICAL3	57553	broad.mit.edu	37	22	18304795	18304795	+	Splice_Site	SNP	C	C	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr22:18304795C>A	ENST00000441493.2	-	24	3801		c.e24+1			NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GACAGGCTCACCTCTCTCTTG	0.582																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.e24+1		microtubule associated monooxygenase, calponin and LIM domain containing 3							112.0	125.0	121.0					22																	18304795		2076	4196	6272	SO:0001630	splice_region_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18304795C>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3448+1G>T	22.37:g.18304795C>A								NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	24	3801	-		all_epithelial(15;0.198)						B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Splice_Site	SNP	ENST00000441493.2	37		CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	9.783	1.175868	0.21704	.	.	ENSG00000093100	ENST00000252134;ENST00000441493	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5672	0.56316	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XXbac-B461K10.4	16684795	1.000000	0.71417	0.990000	0.47175	0.092000	0.18411	3.846000	0.55888	2.098000	0.63641	0.555000	0.69702	.		0.582	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		Intron	62	44	1	0	2.01871e-26	1	2.28787e-26	62	44				
FDX1	2230	broad.mit.edu	37	11	110333129	110333129	+	Silent	SNP	T	T	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr11:110333129T>C	ENST00000260270.2	+	4	730	c.492T>C	c.(490-492)acT>acC	p.T164T		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	164	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				cholesterol metabolic process (GO:0008203)|hormone biosynthetic process (GO:0042446)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	ACAATATGACTGTTCGAGTGC	0.403																																						ENST00000260270.2																			0				lung(2)	2						c.(490-492)acT>acC		ferredoxin 1	Mitotane(DB00648)						80.0	70.0	73.0					11																	110333129		2201	4296	6497	SO:0001819	synonymous_variant	2230				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding	g.chr11:110333129T>C	M23668	CCDS8344.1	11q22.3	2008-02-01			ENSG00000137714	ENSG00000137714			3638	protein-coding gene	gene with protein product	"""adrenodoxin"""	103260		FDX		2969697	Standard	NM_004109		Approved	ADX	uc001pkx.3	P10109	OTTHUMG00000166589	ENST00000260270.2:c.492T>C	11.37:g.110333129T>C							p.T164T	NM_004109.4	NP_004100.1	P10109	ADX_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	4	730	+		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	164			2Fe-2S ferredoxin-type.		B0YJ14|Q53YD6	Silent	SNP	ENST00000260270.2	37	c.492T>C	CCDS8344.1																																																																																				0.403	FDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390590.1	NM_004109		12	20	0	0	0	1	0	12	20				
MATN2	4147	broad.mit.edu	37	8	98900459	98900459	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr8:98900459C>T	ENST00000520016.1	+	1	255	c.131C>T	c.(130-132)aCg>aTg	p.T44M	MATN2_ENST00000524308.1_Missense_Mutation_p.T44M|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000254898.5_Missense_Mutation_p.T44M|MATN2_ENST00000521689.1_Missense_Mutation_p.T44M			O00339	MATN2_HUMAN	matrilin 2	44						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CACCCGCAGACGGCCCTTCTG	0.647																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(130-132)aCg>aTg		matrilin 2							17.0	17.0	17.0					8																	98900459		1937	4139	6076	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98900459C>T	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.131C>T	8.37:g.98900459C>T	ENSP00000430487:p.Thr44Met					MATN2_ENST00000521689.1_Missense_Mutation_p.T44M|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.T44M|MATN2_ENST00000524308.1_Missense_Mutation_p.T44M	p.T44M	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		2	362	+	Breast(36;1.43e-06)		44					A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.131C>T	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000203	0.35320	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	D;T;D;T	0.83591	-1.71;-0.87;-1.74;-0.84	4.94	3.14	0.36123	.	0.301734	0.24111	N	0.041445	T	0.78240	0.4252	N	0.19112	0.55	0.27899	N	0.939051	P;D;P	0.71674	0.806;0.998;0.73	B;P;B	0.57846	0.071;0.828;0.044	T	0.68708	-0.5337	10	0.39692	T	0.17	-4.3568	6.4947	0.22136	0.0:0.7196:0.1838:0.0967	.	44;44;44	O00339-2;O00339;Q8N2G3	.;MATN2_HUMAN;.	M	44	ENSP00000429977:T44M;ENSP00000254898:T44M;ENSP00000430221:T44M;ENSP00000430487:T44M	ENSP00000254898:T44M	T	+	2	0	MATN2	98969635	0.988000	0.35896	0.996000	0.52242	0.879000	0.50718	0.545000	0.23268	0.670000	0.31165	-0.165000	0.13383	ACG		0.647	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			6	21	0	0	0	1	0	6	21				
RRNAD1	51093	broad.mit.edu	37	1	156703202	156703202	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:156703202G>A	ENST00000368216.4	+	5	1156	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	RRNAD1_ENST00000476229.1_Missense_Mutation_p.G53R|RRNAD1_ENST00000368218.4_Missense_Mutation_p.G176R	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	176						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TCTTGGCCTGGGGTTGATGGT	0.592																																						ENST00000368216.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(526-528)Ggg>Agg		ribosomal RNA adenine dimethylase domain containing 1							83.0	89.0	87.0					1																	156703202		2203	4300	6503	SO:0001583	missense	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156703202G>A	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.526G>A	1.37:g.156703202G>A	ENSP00000357199:p.Gly176Arg					RRNAD1_ENST00000476229.1_Missense_Mutation_p.G53R|RRNAD1_ENST00000368218.4_Missense_Mutation_p.G176R	p.G176R	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			5	1156	+			176					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.526G>A	CCDS1154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.719733|4.719733	0.89205|0.89205	.|.	.|.	ENSG00000143303|ENSG00000143303	ENST00000368218;ENST00000368216;ENST00000519086;ENST00000484742;ENST00000476229|ENST00000522237	T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Ribosomal RNA adenine methylase transferase, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72277|.	0.3440|.	M|M	0.81179|0.81179	2.53|2.53	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.56035|.	0.966;0.974|.	P;P|.	0.59357|.	0.796;0.856|.	T|.	0.74225|.	-0.3734|.	10|.	0.52906|.	T|.	0.07|.	-29.034|-29.034	16.4887|16.4887	0.84193|0.84193	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	176;176|.	Q4VX71;Q96FB5|.	.;RRNAD_HUMAN|.	R|X	176;176;155;74;53|62	ENSP00000357201:G176R;ENSP00000357199:G176R;ENSP00000429756:G155R;ENSP00000429053:G74R|.	ENSP00000357199:G176R|.	G|W	+|+	1|3	0|0	RRNAD1|RRNAD1	154969826|154969826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	4.608000|4.608000	0.61141|0.61141	2.490000|2.490000	0.84030|0.84030	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.592	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		14	110	0	0	0	1	0	14	110				
CWF19L2	143884	broad.mit.edu	37	11	107312239	107312239	+	Missense_Mutation	SNP	G	G	T	rs370930551		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr11:107312239G>T	ENST00000282251.5	-	5	587	c.560C>A	c.(559-561)gCg>gAg	p.A187E	CWF19L2_ENST00000433523.1_Missense_Mutation_p.A187E	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	187							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CTGTTCAAGCGCTTGGTTTTT	0.299																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(559-561)gCg>gAg		CWF19-like 2, cell cycle control (S. pombe)							95.0	78.0	83.0					11																	107312239		2169	4266	6435	SO:0001583	missense	143884						catalytic activity	g.chr11:107312239G>T	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.560C>A	11.37:g.107312239G>T	ENSP00000282251:p.Ala187Glu					CWF19L2_ENST00000433523.1_Missense_Mutation_p.A187E	p.A187E	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	5	587	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	187					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.560C>A	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	G	9.794	1.178829	0.21787	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.20738	2.05;2.05	5.88	3.97	0.46021	.	0.280839	0.38381	N	0.001715	T	0.19565	0.0470	L	0.59436	1.845	0.29911	N	0.823572	B	0.30584	0.286	B	0.26864	0.074	T	0.09818	-1.0657	10	0.38643	T	0.18	-12.7049	9.745	0.40442	0.1655:0.0:0.8345:0.0	.	187	Q2TBE0	C19L2_HUMAN	E	187	ENSP00000282251:A187E;ENSP00000387533:A187E	ENSP00000282251:A187E	A	-	2	0	CWF19L2	106817449	1.000000	0.71417	0.598000	0.28837	0.189000	0.23516	3.789000	0.55454	1.468000	0.48064	0.555000	0.69702	GCG		0.299	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		6	4	1	0	0.00198382	1	0.00203162	6	4				
HADHB	3032	broad.mit.edu	37	2	26486314	26486314	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:26486314G>T	ENST00000317799.5	+	4	280	c.176G>T	c.(175-177)gGt>gTt	p.G59V	HADHB_ENST00000405867.3_Missense_Mutation_p.G59V|HADHB_ENST00000545822.1_Missense_Mutation_p.G37V|HADHB_ENST00000537713.1_Missense_Mutation_p.G59V|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	59			G -> D (in TFP deficiency). {ECO:0000269|PubMed:12754706}.		cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGTGGATGGTGTTCGCACT	0.348																																						ENST00000317799.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	GRCh37	CM031198	HADHB	M		c.(175-177)gGt>gTt		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit							164.0	153.0	157.0					2																	26486314		2203	4300	6503	SO:0001583	missense	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26486314G>T		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.176G>T	2.37:g.26486314G>T	ENSP00000325136:p.Gly59Val					HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Missense_Mutation_p.G59V|HADHB_ENST00000405867.3_Missense_Mutation_p.G59V|HADHB_ENST00000545822.1_Missense_Mutation_p.G37V	p.G59V	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN			4	280	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		59		G -> D (in TFP deficiency).			B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	c.176G>T	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327133	0.81690	.	.	ENSG00000138029	ENST00000448743;ENST00000317799;ENST00000405867;ENST00000537713;ENST00000545822;ENST00000425035;ENST00000412805	D;D;D;D;D;D;D	0.90620	-2.22;-2.22;-2.7;-2.22;-2.22;-2.22;-2.7	5.64	5.64	0.86602	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.95943	0.8679	M	0.86864	2.845	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.969;0.982;0.998;0.982	D	0.96330	0.9243	10	0.87932	D	0	-19.31	17.1859	0.86867	0.0:0.0:1.0:0.0	.	59;37;59;59	F5GZQ3;B4E2W0;B5MD38;P55084	.;.;.;ECHB_HUMAN	V	59;59;59;59;37;59;59	ENSP00000415300:G59V;ENSP00000325136:G59V;ENSP00000385411:G59V;ENSP00000444295:G59V;ENSP00000442665:G37V;ENSP00000404633:G59V;ENSP00000413103:G59V	ENSP00000325136:G59V	G	+	2	0	HADHB	26339818	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.776000	0.75023	2.655000	0.90218	0.585000	0.79938	GGT		0.348	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		35	108	1	0	6.90743e-12	1	7.43204e-12	35	108				
PDZRN4	29951	broad.mit.edu	37	12	41900421	41900421	+	Missense_Mutation	SNP	C	C	T	rs549596773		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:41900421C>T	ENST00000402685.2	+	4	1015	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M	PDZRN4_ENST00000298919.7_Missense_Mutation_p.T76M|PDZRN4_ENST00000539469.2_Missense_Mutation_p.T78M	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	336							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGCACTCAGACGGACATCACC	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		19496	0.0		0.0	False		,,,				2504	0.001					ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(226-228)aCg>aTg		PDZ domain containing ring finger 4							178.0	145.0	157.0					12																	41900421		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41900421C>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1007C>T	12.37:g.41900421C>T	ENSP00000384197:p.Thr336Met					PDZRN4_ENST00000539469.2_Missense_Mutation_p.T78M|PDZRN4_ENST00000402685.2_Missense_Mutation_p.T336M	p.T76M			Q6ZMN7	PZRN4_HUMAN			4	615	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	336					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.227C>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895505	0.91962	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.76448	-1.02;3.34;3.37	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	D	0.89364	0.6694	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.90434	0.4426	10	0.87932	D	0	-23.3367	19.3644	0.94456	0.0:1.0:0.0:0.0	.	336;76;78	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	M	336;78;76	ENSP00000384197:T336M;ENSP00000439990:T78M;ENSP00000298919:T76M	ENSP00000298919:T76M	T	+	2	0	PDZRN4	40186688	1.000000	0.71417	0.968000	0.41197	0.997000	0.91878	7.776000	0.85560	2.758000	0.94735	0.563000	0.77884	ACG		0.522	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		24	25	0	0	0	1	0	24	25				
STAG3	10734	broad.mit.edu	37	7	99802373	99802373	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr7:99802373C>T	ENST00000426455.1	+	27	3333	c.2926C>T	c.(2926-2928)Cgt>Tgt	p.R976C	GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.R918C|STAG3_ENST00000317296.5_Missense_Mutation_p.R976C|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	976					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTGCAGAACCGTGACCTCGT	0.597																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(2926-2928)Cgt>Tgt		stromal antigen 3							62.0	48.0	53.0					7																	99802373		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99802373C>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2926C>T	7.37:g.99802373C>T	ENSP00000400359:p.Arg976Cys					GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.R918C|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.R976C|GATS_ENST00000436886.2_Intron	p.R976C			Q9UJ98	STAG3_HUMAN			27	3333	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		976					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.2926C>T	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	17.67	3.446375	0.63178	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000317296	T;T;T	0.23147	1.92;1.92;1.92	5.0	4.11	0.48088	.	0.000000	0.45867	D	0.000328	T	0.52629	0.1746	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.99	T	0.58025	-0.7709	10	0.87932	D	0	-9.7374	10.7283	0.46081	0.3436:0.6564:0.0:0.0	.	918;976;976	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	C	976;918;976	ENSP00000400359:R976C;ENSP00000377586:R918C;ENSP00000319318:R976C	ENSP00000319318:R976C	R	+	1	0	STAG3	99640309	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.351000	0.34022	1.078000	0.41014	0.655000	0.94253	CGT		0.597	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		8	26	0	0	0	1	0	8	26				
SYCP2	10388	broad.mit.edu	37	20	58467325	58467325	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr20:58467325T>C	ENST00000357552.3	-	24	2309	c.2084A>G	c.(2083-2085)cAg>cGg	p.Q695R	SYCP2_ENST00000371001.2_Missense_Mutation_p.Q695R			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	695					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTTTGTTGCTGATTGTGTTT	0.343																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2083-2085)cAg>cGg		synaptonemal complex protein 2							173.0	178.0	176.0					20																	58467325		2203	4300	6503	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58467325T>C	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2084A>G	20.37:g.58467325T>C	ENSP00000350162:p.Gln695Arg					SYCP2_ENST00000371001.2_Missense_Mutation_p.Q695R	p.Q695R			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		24	2309	-	all_lung(29;0.00344)		695					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.2084A>G	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	T	5.827	0.336765	0.11013	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.18810	2.44;2.44;2.19	4.89	2.35	0.29111	.	0.912463	0.09353	N	0.813846	T	0.26268	0.0641	M	0.62723	1.935	0.09310	N	1	P	0.52061	0.95	P	0.50708	0.648	T	0.14615	-1.0466	10	0.13470	T	0.59	-9.9157	5.041	0.14458	0.1839:0.0:0.1912:0.6249	.	695	Q9BX26	SYCP2_HUMAN	R	695	ENSP00000360040:Q695R;ENSP00000350162:Q695R;ENSP00000402456:Q695R	ENSP00000350162:Q695R	Q	-	2	0	SYCP2	57900720	0.010000	0.17322	0.020000	0.16555	0.125000	0.20455	0.365000	0.20348	0.782000	0.33613	0.482000	0.46254	CAG		0.343	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		29	154	0	0	0	1	0	29	154				
OR2M7	391196	broad.mit.edu	37	1	248487598	248487598	+	Silent	SNP	G	G	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:248487598G>T	ENST00000317965.2	-	1	301	c.273C>A	c.(271-273)tcC>tcA	p.S91S		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATAGAAATGGACTTGCTGC	0.478																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(271-273)tcC>tcA		olfactory receptor, family 2, subfamily M, member 7							222.0	225.0	224.0					1																	248487598		2203	4300	6503	SO:0001819	synonymous_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487598G>T	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.273C>A	1.37:g.248487598G>T							p.S91S	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	301	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		91					B2RNL0|Q6IEX6	Silent	SNP	ENST00000317965.2	37	c.273C>A	CCDS31111.1																																																																																				0.478	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		54	394	1	0	9.16383e-17	1	1.01159e-16	54	394				
NCKAP1	10787	broad.mit.edu	37	2	183817613	183817613	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:183817613T>A	ENST00000361354.4	-	22	2783	c.2411A>T	c.(2410-2412)cAt>cTt	p.H804L	NCKAP1_ENST00000360982.2_Missense_Mutation_p.H810L	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	804					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATATGCTATATGGCCATTGCT	0.343																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(2428-2430)cAt>cTt		NCK-associated protein 1							80.0	75.0	77.0					2																	183817613		2203	4298	6501	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183817613T>A	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2411A>T	2.37:g.183817613T>A	ENSP00000355348:p.His804Leu					NCKAP1_ENST00000361354.3_Missense_Mutation_p.H804L	p.H810L	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		23	3187	-			804					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.2429A>T	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.969932	0.34754	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.30182	1.54;1.54	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	L	0.31752	0.955	0.80722	D	1	B;B	0.11235	0.004;0.003	B;B	0.12156	0.007;0.004	T	0.03503	-1.1030	10	0.27082	T	0.32	-16.0449	16.4622	0.84064	0.0:0.0:0.0:1.0	.	804;810	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	L	804;810	ENSP00000355348:H804L;ENSP00000354251:H810L	ENSP00000354251:H810L	H	-	2	0	NCKAP1	183525858	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.949000	0.63596	2.289000	0.77006	0.533000	0.62120	CAT		0.343	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		27	26	0	0	0	1	0	27	26				
TMPRSS11B	132724	broad.mit.edu	37	4	69100236	69100236	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr4:69100236C>T	ENST00000332644.5	-	5	575	c.414G>A	c.(412-414)atG>atA	p.M138I		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	138	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGTTTTTCAACATCTGATGTA	0.363																																						ENST00000332644.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(412-414)atG>atA		transmembrane protease, serine 11B							118.0	111.0	114.0					4																	69100236		2203	4300	6503	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69100236C>T	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.414G>A	4.37:g.69100236C>T	ENSP00000330475:p.Met138Ile						p.M138I	NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN			5	575	-			138			SEA.		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.414G>A	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	C	4.492	0.091262	0.08632	.	.	ENSG00000185873	ENST00000332644	T	0.28454	1.61	5.16	-0.209	0.13180	.	1.030570	0.07743	N	0.947281	T	0.19685	0.0473	N	0.20685	0.6	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.29518	-1.0009	10	0.38643	T	0.18	.	8.5638	0.33527	0.0:0.5385:0.0:0.4615	.	138	Q86T26	TM11B_HUMAN	I	138	ENSP00000330475:M138I	ENSP00000330475:M138I	M	-	3	0	TMPRSS11B	68782831	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.015000	0.13355	-0.332000	0.08489	-0.119000	0.15052	ATG		0.363	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		17	39	0	0	0	1	0	17	39				
GNB5	10681	broad.mit.edu	37	15	52427914	52427914	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr15:52427914C>T	ENST00000261837.7	-	8	732	c.667G>A	c.(667-669)Gac>Aac	p.D223N	CTD-2184D3.7_ENST00000560613.1_RNA|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000396335.4_Missense_Mutation_p.D111N|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000358784.7_Missense_Mutation_p.D181N	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	223				D -> G (in Ref. 4; BAG37312). {ECO:0000305}.	GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CTCTCCACGTCCCACAGGGCA	0.612																																						ENST00000261837.7																			0				large_intestine(1)|lung(1)	2						c.(667-669)Gac>Aac		guanine nucleotide binding protein (G protein), beta 5							79.0	76.0	77.0					15																	52427914		2195	4293	6488	SO:0001583	missense	10681					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52427914C>T	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.667G>A	15.37:g.52427914C>T	ENSP00000261837:p.Asp223Asn					CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000358784.7_Missense_Mutation_p.D181N|GNB5_ENST00000396335.4_Missense_Mutation_p.D111N	p.D223N	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN		all cancers(107;0.0163)	8	732	-			223					B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	37	c.667G>A	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	C	36	5.846803	0.97016	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	T	0.68025	-0.3	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.116243	0.56097	D	0.000026	T	0.75729	0.3889	M	0.73753	2.245	0.80722	D	1	P;P	0.50819	0.939;0.769	P;P	0.49226	0.595;0.603	T	0.79391	-0.1823	10	0.72032	D	0.01	-18.7862	19.4128	0.94681	0.0:1.0:0.0:0.0	.	223;111	O14775;O14775-3	GBB5_HUMAN;.	N	223;181;21;111	ENSP00000261837:D223N	ENSP00000261837:D223N	D	-	1	0	GNB5	50215206	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.344000	0.79328	2.573000	0.86826	0.650000	0.86243	GAC		0.612	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			20	70	0	0	0	1	0	20	70				
HECTD4	283450	broad.mit.edu	37	12	112607337	112607337	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:112607337G>A	ENST00000430131.2	-	69	12057	c.10912C>T	c.(10912-10914)Cgc>Tgc	p.R3638C	HECTD4_ENST00000550722.1_Missense_Mutation_p.R3914C|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3888C			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3638	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CCAGTGAAGCGGATGTTGAAG	0.627																																						ENST00000550722.1																			0											c.(11740-11742)Cgc>Tgc		HECT domain containing E3 ubiquitin protein ligase 4							34.0	40.0	38.0					12																	112607337		2080	4199	6279	SO:0001583	missense	283450							g.chr12:112607337G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10912C>T	12.37:g.112607337G>A	ENSP00000404379:p.Arg3638Cys					HECTD4_ENST00000430131.2_Missense_Mutation_p.R3638C|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3888C	p.R3914C	NM_001109662.3	NP_001103132.3					70	12135	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.11740C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.416989	0.96092	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.44482	0.92;0.92;0.92	5.88	5.88	0.94601	HECT (3);	.	.	.	.	T	0.64789	0.2630	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.64837	-0.6313	9	0.87932	D	0	.	20.2207	0.98324	0.0:0.0:1.0:0.0	.	3638	Q9Y4D8	K0614_HUMAN	C	3888;3638;3914;103	ENSP00000366783:R3888C;ENSP00000404379:R3638C;ENSP00000449784:R3914C	ENSP00000366783:R3888C	R	-	1	0	C12orf51	111091720	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.294000	0.78760	2.790000	0.95986	0.591000	0.81541	CGC		0.627	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		5	20	0	0	0	1	0	5	20				
FASN	2194	broad.mit.edu	37	17	80044961	80044961	+	Missense_Mutation	SNP	C	C	T	rs147660865		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:80044961C>T	ENST00000306749.2	-	21	3610	c.3392G>A	c.(3391-3393)cGc>cAc	p.R1131H		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1131					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CAGGGCAGCGCGCTCAGACAG	0.667																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(3391-3393)cGc>cAc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	C	HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	33.0	34.0	33.0		3392	-5.0	0.0	17	dbSNP_134	33	0,8588		0,0,4294	no	missense	FASN	NM_004104.4	29	0,1,6493	TT,TC,CC		0.0,0.0227,0.0077	benign	1131/2512	80044961	1,12987	2200	4294	6494	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80044961C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3392G>A	17.37:g.80044961C>T	ENSP00000304592:p.Arg1131His						p.R1131H	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		21	3610	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1131					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.3392G>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	4.022	0.001463	0.07819	2.27E-4	0.0	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.44881	0.91	3.84	-5.01	0.02991	.	0.492470	0.22652	N	0.057319	T	0.21674	0.0522	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.07028	-1.0794	10	0.44086	T	0.13	-18.4669	12.9716	0.58515	0.0:0.2783:0.0:0.7217	.	1131	P49327	FAS_HUMAN	H	1131;96	ENSP00000304592:R1131H	ENSP00000304592:R1131H	R	-	2	0	FASN	77638250	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.528000	0.02225	-0.985000	0.03503	-0.455000	0.05494	CGC		0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		3	15	0	0	0	1	0	3	15				
NUTM1	256646	broad.mit.edu	37	15	34648291	34648291	+	Silent	SNP	T	T	G			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr15:34648291T>G	ENST00000333756.4	+	7	2153	c.1998T>G	c.(1996-1998)ggT>ggG	p.G666G	NUTM1_ENST00000537011.1_Silent_p.G694G|NUTM1_ENST00000438749.3_Silent_p.G684G	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	666						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAACAGGGGGTCGTGGAGTGC	0.557																																						ENST00000537011.1																			0											c.(2080-2082)ggT>ggG		NUT midline carcinoma, family member 1							43.0	47.0	46.0					15																	34648291		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34648291T>G	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1998T>G	15.37:g.34648291T>G						NUTM1_ENST00000438749.3_Silent_p.G684G|NUTM1_ENST00000333756.4_Silent_p.G666G	p.G694G							8	2464	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.2082T>G	CCDS32190.1																																																																																				0.557	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		4	22	0	0	0	1	0	4	22				
TATDN1	83940	broad.mit.edu	37	8	125506161	125506161	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr8:125506161G>C	ENST00000276692.6	-	11	741	c.704C>G	c.(703-705)tCa>tGa	p.S235*	TATDN1_ENST00000521546.1_5'Flank|TATDN1_ENST00000517678.1_Nonsense_Mutation_p.S181*|TATDN1_ENST00000519548.1_Nonsense_Mutation_p.S188*|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	235					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TATATATTTTGATCCAGCATG	0.363																																						ENST00000276692.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(703-705)tCa>tGa		TatD DNase domain containing 1							127.0	119.0	122.0					8																	125506161		2203	4300	6503	SO:0001587	stop_gained	83940					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr8:125506161G>C	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.704C>G	8.37:g.125506161G>C	ENSP00000276692:p.Ser235*					TATDN1_ENST00000517678.1_Nonsense_Mutation_p.S181*|TATDN1_ENST00000519548.1_Nonsense_Mutation_p.S188*	p.S235*	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		11	741	-	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		235					B2R5J0|Q8TD02|Q9BY40	Nonsense_Mutation	SNP	ENST00000276692.6	37	c.704C>G	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445914	0.84101	.	.	ENSG00000147687	ENST00000276692;ENST00000519548;ENST00000522810;ENST00000517678	.	.	.	5.67	3.85	0.44370	.	0.347798	0.31041	N	0.008367	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-22.4598	12.8458	0.57829	0.1184:0.0:0.8816:0.0	.	.	.	.	X	235;188;271;181	.	ENSP00000276692:S235X	S	-	2	0	TATDN1	125575342	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.240000	0.58701	2.698000	0.92095	0.650000	0.86243	TCA		0.363	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		54	118	0	0	0	1	0	54	118				
CYP2B6	1555	broad.mit.edu	37	19	41512851	41512851	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:41512851G>A	ENST00000324071.4	+	4	533	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	176					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	GTCCATTACCGCCAACATCAT	0.498																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(526-528)Gcc>Acc		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						99.0	87.0	91.0					19																	41512851		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41512851G>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.526G>A	19.37:g.41512851G>A	ENSP00000324648:p.Ala176Thr					CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Intron	p.A176T	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		4	533	+			176					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.526G>A	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	11.75	1.730968	0.30684	.	.	ENSG00000197408	ENST00000324071	T	0.67523	-0.27	4.48	2.29	0.28610	.	0.065856	0.64402	D	0.000009	T	0.73009	0.3532	M	0.70842	2.15	0.80722	D	1	D	0.67145	0.996	P	0.62435	0.902	T	0.69665	-0.5084	10	0.46703	T	0.11	.	5.3645	0.16105	0.0965:0.0:0.5489:0.3545	.	176	P20813	CP2B6_HUMAN	T	176	ENSP00000324648:A176T	ENSP00000324648:A176T	A	+	1	0	CYP2B6	46204691	0.219000	0.23619	0.235000	0.24058	0.126000	0.20510	0.067000	0.14510	0.507000	0.28148	0.425000	0.28330	GCC		0.498	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		23	28	0	0	0	1	0	23	28				
RHBDF1	64285	broad.mit.edu	37	16	112635	112635	+	Missense_Mutation	SNP	G	G	A	rs143220179		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr16:112635G>A	ENST00000262316.6	-	7	996	c.854C>T	c.(853-855)tCg>tTg	p.S285L	RHBDF1_ENST00000454039.2_Missense_Mutation_p.S285L	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	285					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CGCTGCCTCCGATGGGGACTC	0.617																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(853-855)tCg>tTg		rhomboid 5 homolog 1 (Drosophila)		G	LEU/SER	0,4406		0,0,2203	148.0	165.0	159.0		854	4.8	0.9	16	dbSNP_134	159	1,8599		0,1,4299	no	missense	RHBDF1	NM_022450.3	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	285/856	112635	1,13005	2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:112635G>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.854C>T	16.37:g.112635G>A	ENSP00000262316:p.Ser285Leu					RHBDF1_ENST00000454039.2_Missense_Mutation_p.S285L	p.S285L	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			7	996	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	285					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.854C>T	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.940136	0.73557	0.0	1.16E-4	ENSG00000007384	ENST00000262316;ENST00000454039	T;T	0.64803	-0.12;-0.12	4.77	4.77	0.60923	.	0.066022	0.64402	D	0.000005	T	0.65322	0.2680	N	0.14661	0.345	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.208	D;D;B	0.76071	0.938;0.987;0.146	T	0.68800	-0.5313	10	0.44086	T	0.13	-13.9616	16.9514	0.86246	0.0:0.0:1.0:0.0	.	285;308;285	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	L	285	ENSP00000262316:S285L;ENSP00000392133:S285L	ENSP00000262316:S285L	S	-	2	0	RHBDF1	52635	1.000000	0.71417	0.939000	0.37840	0.340000	0.28889	8.943000	0.92975	2.470000	0.83445	0.462000	0.41574	TCG		0.617	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		65	301	0	0	0	1	0	65	301				
ARSD	414	broad.mit.edu	37	X	2828811	2828811	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:2828811C>G	ENST00000381154.1	-	7	1099	c.1024G>C	c.(1024-1026)Gac>Cac	p.D342H	ARSD_ENST00000217890.6_5'Flank	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	342					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAACCATTGTCTTCGATGGCA	0.433																																						ENST00000381154.1																			0				large_intestine(3)|lung(3)	6						c.(1024-1026)Gac>Cac		arylsulfatase D							238.0	191.0	207.0					X																	2828811		2203	4300	6503	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2828811C>G	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1024G>C	X.37:g.2828811C>G	ENSP00000370546:p.Asp342His						p.D342H	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN			7	1099	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	342					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.1024G>C	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	C	8.075	0.771179	0.16051	.	.	ENSG00000006756	ENST00000381154	D	0.94330	-3.4	3.44	0.14	0.14804	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.664060	0.14700	U	0.303607	D	0.88265	0.6390	L	0.58302	1.8	0.09310	N	1	B	0.20887	0.049	B	0.24155	0.051	T	0.78114	-0.2330	10	0.49607	T	0.09	.	0.5856	0.00719	0.1868:0.3266:0.183:0.3036	.	342	P51689	ARSD_HUMAN	H	342	ENSP00000370546:D342H	ENSP00000370546:D342H	D	-	1	0	ARSD	2838811	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	0.287000	0.18920	0.331000	0.23511	0.431000	0.28591	GAC		0.433	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			25	36	0	0	0	1	0	25	36				
TMTC3	160418	broad.mit.edu	37	12	88584341	88584341	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:88584341C>T	ENST00000266712.6	+	12	1868	c.1648C>T	c.(1648-1650)Cag>Tag	p.Q550*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	550					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AGAAGCAGATCAGCTGTACCG	0.423																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1648-1650)Cag>Tag		transmembrane and tetratricopeptide repeat containing 3							111.0	97.0	102.0					12																	88584341		2203	4300	6503	SO:0001587	stop_gained	160418					integral to membrane	binding	g.chr12:88584341C>T		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1648C>T	12.37:g.88584341C>T	ENSP00000266712:p.Gln550*						p.Q550*	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			12	1868	+			550					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Nonsense_Mutation	SNP	ENST00000266712.6	37	c.1648C>T	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	C	39	7.745925	0.98465	.	.	ENSG00000139324	ENST00000266712	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-8.9538	19.1259	0.93384	0.0:1.0:0.0:0.0	.	.	.	.	X	550	.	ENSP00000266712:Q550X	Q	+	1	0	TMTC3	87108472	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.974000	0.70465	2.593000	0.87608	0.655000	0.94253	CAG		0.423	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		16	63	0	0	0	1	0	16	63				
TTN	7273	broad.mit.edu	37	2	179434084	179434084	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:179434084G>T	ENST00000591111.1	-	276	72076	c.71852C>A	c.(71851-71853)gCc>gAc	p.A23951D	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A16652D|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A16719D|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A16527D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A25592D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A23024D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23951	Ig-like 120.				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)			AGTAACAAAGGCAGACTTTGT	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(76774-76776)gCc>gAc		titin							149.0	143.0	145.0					2																	179434084		1890	4112	6002	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434084G>T	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.71852C>A	2.37:g.179434084G>T	ENSP00000465570:p.Ala23951Asp					TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A23951D|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A16652D|TTN_ENST00000342992.6_Missense_Mutation_p.A23024D|TTN_ENST00000342175.6_Missense_Mutation_p.A16719D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A16527D	p.A25592D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	76999	-			23951			Fibronectin type-III 86.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.76775C>A		.	.	.	.	.	.	.	.	.	.	G	12.89	2.074721	0.36566	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.93	5.93	0.95920	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81302	0.4794	M	0.87038	2.855	0.54753	D	0.999981	P;P;P;P	0.47841	0.901;0.901;0.901;0.901	P;P;P;P	0.51777	0.679;0.599;0.679;0.599	D	0.83727	0.0196	9	0.87932	D	0	.	20.3507	0.98813	0.0:0.0:1.0:0.0	.	16527;16652;16719;23951	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	23024;16527;16719;16652;16525	ENSP00000343764:A23024D;ENSP00000434586:A16527D;ENSP00000340554:A16719D;ENSP00000352154:A16652D	ENSP00000340554:A16719D	A	-	2	0	TTN	179142330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.411000	0.73298	2.808000	0.96608	0.655000	0.94253	GCC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	147	1	0	1.22384e-17	1	1.36876e-17	34	147				
MAPK8IP1	9479	broad.mit.edu	37	11	45923556	45923556	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr11:45923556G>A	ENST00000241014.2	+	4	718	c.548G>A	c.(547-549)gGc>gAc	p.G183D	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.G173D	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	183	JNK-binding domain (JBD).				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		AATTCTCTGGGCAAAAAGCAC	0.577																																						ENST00000395629.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(517-519)gGc>gAc		mitogen-activated protein kinase 8 interacting protein 1							234.0	233.0	233.0					11																	45923556		2203	4299	6502	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45923556G>A		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.548G>A	11.37:g.45923556G>A	ENSP00000241014:p.Gly183Asp					MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.G183D	p.G173D			Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	4	848	+			183			JNK-binding domain (JBD).|Minimal inhibitory domain (MID).		D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.518G>A	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348812	0.82132	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.40756	1.02;1.04	4.81	4.81	0.61882	.	0.058092	0.64402	D	0.000002	T	0.55481	0.1923	L	0.48642	1.525	0.49798	D	0.999825	D	0.76494	0.999	D	0.68353	0.957	T	0.57341	-0.7828	10	0.72032	D	0.01	-37.9062	13.4385	0.61099	0.0:0.1575:0.8425:0.0	.	183	Q9UQF2	JIP1_HUMAN	D	183;173	ENSP00000241014:G183D;ENSP00000378991:G173D	ENSP00000241014:G183D	G	+	2	0	MAPK8IP1	45880132	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.914000	0.69964	2.504000	0.84457	0.561000	0.74099	GGC		0.577	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		5	239	0	0	0	1	0	5	239				
PRUNE2	158471	broad.mit.edu	37	9	79319818	79319818	+	Silent	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr9:79319818G>A	ENST00000376718.3	-	8	7495	c.7372C>T	c.(7372-7374)Ctg>Ttg	p.L2458L	PRUNE2_ENST00000428286.1_Silent_p.L2099L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2458					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGAATATGCAGCACAGCCAGC	0.493											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(6295-6297)Ctg>Ttg		prune homolog 2 (Drosophila)							62.0	53.0	56.0					9																	79319818		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79319818G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7372C>T	9.37:g.79319818G>A			OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1190	PRUNE2_ENST00000376718.3_Silent_p.L2458L	p.L2099L			Q8WUY3	PRUN2_HUMAN			8	7495	-			2458					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.6295C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	0.051	-1.251675	0.01469	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.93	2.72	0.32119	.	.	.	.	.	T	0.25382	0.0617	.	.	.	0.25788	N	0.984653	.	.	.	.	.	.	T	0.15723	-1.0427	4	.	.	.	-8.8671	4.1216	0.10108	0.2139:0.1958:0.5903:0.0	.	.	.	.	V	1779	.	.	A	-	2	0	PRUNE2	78509638	0.055000	0.20627	0.720000	0.30636	0.073000	0.16967	0.757000	0.26433	1.483000	0.48342	0.655000	0.94253	GCT		0.493	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		3	16	0	0	0	1	0	3	16				
RBM28	55131	broad.mit.edu	37	7	127957756	127957756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr7:127957756G>A	ENST00000223073.2	-	16	1858	c.1744C>T	c.(1744-1746)Cga>Tga	p.R582*	RBM28_ENST00000481788.1_Intron|RBM28_ENST00000415472.2_Nonsense_Mutation_p.R441*	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	582	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AGTTTTCTTCGATCTTCTAAA	0.368																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1744-1746)Cga>Tga		RNA binding motif protein 28							108.0	98.0	101.0					7																	127957756		2203	4300	6503	SO:0001587	stop_gained	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127957756G>A	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1744C>T	7.37:g.127957756G>A	ENSP00000223073:p.Arg582*					RBM28_ENST00000481788.1_Intron|RBM28_ENST00000415472.2_Nonsense_Mutation_p.R441*	p.R582*	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			16	1858	-			582			RRM 4.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Nonsense_Mutation	SNP	ENST00000223073.2	37	c.1744C>T	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	39	7.524716	0.98339	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	.	.	.	5.67	3.64	0.41730	.	0.537452	0.19846	N	0.104743	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-8.2631	8.5317	0.33337	0.0:0.1404:0.593:0.2665	.	.	.	.	X	582;441	.	ENSP00000223073:R582X	R	-	1	2	RBM28	127744992	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.337000	0.33862	2.661000	0.90470	0.591000	0.81541	CGA		0.368	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		17	103	0	0	0	1	0	17	103				
NF1	4763	broad.mit.edu	37	17	29528441	29528441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:29528441C>T	ENST00000358273.4	+	11	1581	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	400					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)|p.Q400*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCCTGGCTCAGAATTCACC	0.308			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	16	Whole gene deletion(8)|Unknown(6)|Substitution - Nonsense(2)	p.0?(8)|p.?(6)|p.Q400*(2)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|cervix(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(1198-1200)Cag>Tag		neurofibromin 1							78.0	86.0	83.0					17																	29528441		2203	4295	6498	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29528441C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1198C>T	17.37:g.29528441C>T	ENSP00000351015:p.Gln400*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*	p.Q400*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	11	1581	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	400					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.1198C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647345	0.87958	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.17	5.17	0.71159	.	0.119548	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	18.6538	0.91441	0.0:1.0:0.0:0.0	.	.	.	.	X	400;400;400;66	.	ENSP00000348498:Q400X	Q	+	1	0	NF1	26552567	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.284000	0.58983	2.412000	0.81896	0.491000	0.48974	CAG		0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		51	70	0	0	0	1	0	51	70				
NAV2	89797	broad.mit.edu	37	11	20125215	20125215	+	Missense_Mutation	SNP	A	A	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr11:20125215A>C	ENST00000396087.3	+	37	6865	c.6766A>C	c.(6766-6768)Aca>Cca	p.T2256P	NAV2_ENST00000311043.8_Missense_Mutation_p.T1261P|NAV2_ENST00000349880.4_Missense_Mutation_p.T2197P|NAV2_ENST00000360655.4_Missense_Mutation_p.T2133P|NAV2_ENST00000540292.1_Missense_Mutation_p.T2187P|NAV2_ENST00000396085.1_Missense_Mutation_p.T2200P|NAV2_ENST00000533917.1_Missense_Mutation_p.T1261P|NAV2_ENST00000527559.2_Missense_Mutation_p.T2185P	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2256					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CATAATTGGCACAATGAACCA	0.468																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(6598-6600)Aca>Cca		neuron navigator 2							171.0	163.0	165.0					11																	20125215		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20125215A>C	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6766A>C	11.37:g.20125215A>C	ENSP00000379396:p.Thr2256Pro					NAV2_ENST00000527559.2_Missense_Mutation_p.T2185P|NAV2_ENST00000349880.4_Missense_Mutation_p.T2197P|NAV2_ENST00000533917.1_Missense_Mutation_p.T1261P|NAV2_ENST00000540292.1_Missense_Mutation_p.T2187P|NAV2_ENST00000360655.4_Missense_Mutation_p.T2133P|NAV2_ENST00000396087.3_Missense_Mutation_p.T2256P|NAV2_ENST00000311043.8_Missense_Mutation_p.T1261P	p.T2200P	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			35	6959	+			2256					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.6598A>C	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.771259	0.90108	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	D;D;D;D;D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27;-3.27;-3.27;-3.27;-3.27	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	D	0.97145	0.9067	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97667	1.0164	9	.	.	.	.	15.9211	0.79575	1.0:0.0:0.0:0.0	.	2200;1261;2197;2133	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	P	2133;2200;2197;2256;2185;2187;1261;1261	ENSP00000353871:T2133P;ENSP00000379394:T2200P;ENSP00000309577:T2197P;ENSP00000379396:T2256P;ENSP00000435395:T2185P;ENSP00000443489:T2187P;ENSP00000437316:T1261P;ENSP00000312169:T1261P	.	T	+	1	0	NAV2	20081791	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.339000	0.96797	2.243000	0.73865	0.533000	0.62120	ACA		0.468	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		22	54	0	0	0	1	0	22	54				
DGKK	139189	broad.mit.edu	37	X	50167323	50167323	+	RNA	SNP	A	A	G			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:50167323A>G	ENST00000376025.2	-	0	738							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AAAGAGTTACAGTTCTTCAGC	0.378																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							144.0	126.0	132.0					X																	50167323		1869	4084	5953			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50167323A>G	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50167323A>G										Q5KSL6	DGKK_HUMAN			0	738	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.378	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		12	14	0	0	0	1	0	12	14				
HSP90B1	7184	broad.mit.edu	37	12	104336574	104336574	+	Splice_Site	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:104336574G>A	ENST00000299767.5	+	12	1826	c.1644G>A	c.(1642-1644)gaG>gaA	p.E548E		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	548					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GCAGAAAAGAGGTGAGATGAA	0.413																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.e12+1		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						72.0	66.0	68.0					12																	104336574		2203	4300	6503	SO:0001630	splice_region_variant	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104336574G>A	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1644+1G>A	12.37:g.104336574G>A							p.E548_splice	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			12	1826	+			548					Q96A97	Splice_Site	SNP	ENST00000299767.5	37	c.1644_splice	CCDS9094.1																																																																																				0.413	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299	Silent	15	73	0	0	0	1	0	15	73				
SCN9A	6335	broad.mit.edu	37	2	167168039	167168039	+	Silent	SNP	C	C	T	rs545277826		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:167168039C>T	ENST00000409435.1	-	1	227	c.228G>A	c.(226-228)gaG>gaA	p.E76E	SCN9A_ENST00000375387.4_Silent_p.E76E|SCN9A_ENST00000303354.6_Silent_p.E76E|SCN9A_ENST00000409672.1_Silent_p.E76E			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	76					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTCCAAGTCCTCCAGGGGCT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		10326	0.0		0.001	False		,,,				2504	0.0					ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(226-228)gaG>gaA		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						68.0	75.0	73.0					2																	167168039		2120	4283	6403	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167168039C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.228G>A	2.37:g.167168039C>T						SCN9A_ENST00000303354.6_Silent_p.E76E|SCN9A_ENST00000409672.1_Silent_p.E76E|SCN9A_ENST00000409435.1_Silent_p.E76E	p.E76E			Q15858	SCN9A_HUMAN			2	568	-			76					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.228G>A	CCDS46441.1																																																																																				0.458	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		7	59	0	0	0	1	0	7	59				
DAPK3	1613	broad.mit.edu	37	19	3964910	3964910	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:3964910G>A	ENST00000545797.2	-	3	385	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	DAPK3_ENST00000301264.3_Missense_Mutation_p.R48C			O43293	DAPK3_HUMAN	death-associated protein kinase 3	48	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGACAGGCGGCGCTTCTTG	0.652																																						ENST00000545797.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(142-144)Cgc>Tgc		death-associated protein kinase 3							72.0	75.0	74.0					19																	3964910		2203	4300	6503	SO:0001583	missense	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964910G>A	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.142C>T	19.37:g.3964910G>A	ENSP00000442973:p.Arg48Cys					DAPK3_ENST00000301264.3_Missense_Mutation_p.R48C	p.R48C			O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	3	385	-		Hepatocellular(1079;0.137)	48			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	ENST00000545797.2	37	c.142C>T	CCDS12116.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781069	0.90282	.	.	ENSG00000167657	ENST00000301264;ENST00000545797	T;T	0.66815	-0.23;-0.23	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80336	0.4604	M	0.77712	2.385	0.80722	D	1	D	0.76494	0.999	D	0.65010	0.931	T	0.82398	-0.0477	10	0.87932	D	0	.	13.7387	0.62833	0.0:0.0:0.8462:0.1538	.	48	O43293	DAPK3_HUMAN	C	48	ENSP00000301264:R48C;ENSP00000442973:R48C	ENSP00000301264:R48C	R	-	1	0	DAPK3	3915910	1.000000	0.71417	0.975000	0.42487	0.923000	0.55619	5.283000	0.65621	2.691000	0.91804	0.561000	0.74099	CGC		0.652	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		16	64	0	0	0	1	0	16	64				
CACNA1A	773	broad.mit.edu	37	19	13476249	13476249	+	Silent	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:13476249C>T	ENST00000360228.5	-	5	665	c.666G>A	c.(664-666)gcG>gcA	p.A222A	CACNA1A_ENST00000573710.2_Silent_p.A222A	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	222					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGGGATCATCGCCTTCATGA	0.473																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(664-666)gcG>gcA		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						63.0	63.0	63.0					19																	13476249		1919	4133	6052	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13476249C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.666G>A	19.37:g.13476249C>T						CACNA1A_ENST00000573710.2_Silent_p.A222A	p.A222A	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		5	665	-			222					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.666G>A	CCDS45998.1																																																																																				0.473	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		14	32	0	0	0	1	0	14	32				
COL6A3	1293	broad.mit.edu	37	2	238243452	238243452	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:238243452C>T	ENST00000295550.4	-	41	9498	c.9046G>A	c.(9046-9048)Ggt>Agt	p.G3016S	COL6A3_ENST00000472056.1_Missense_Mutation_p.G2409S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2815S|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2810S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2816S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2810S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3016	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAATAAGGACCGGGGGGCTCA	0.542																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(9046-9048)Ggt>Agt		collagen, type VI, alpha 3							74.0	80.0	78.0					2																	238243452		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238243452C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9046G>A	2.37:g.238243452C>T	ENSP00000295550:p.Gly3016Ser					COL6A3_ENST00000409809.1_Missense_Mutation_p.G2810S|COL6A3_ENST00000472056.1_Missense_Mutation_p.G2409S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2815S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2816S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2810S	p.G3016S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	41	9498	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	3016			Fibronectin type-III.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.9046G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	7.594	0.671275	0.14776	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61	5.23	-1.5	0.08691	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.379885	0.25183	N	0.032507	T	0.05456	0.0144	N	0.00289	-1.7	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.40136	-0.9579	10	0.02654	T	1	.	9.9702	0.41749	0.0:0.3675:0.0:0.6325	.	2409;2810;3016	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	S	3016;2815;2810;2409;2810;2816	ENSP00000295550:G3016S;ENSP00000315609:G2815S;ENSP00000315873:G2810S;ENSP00000418285:G2409S;ENSP00000386844:G2810S;ENSP00000295546:G2816S	ENSP00000295550:G3016S	G	-	1	0	COL6A3	237908191	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	-0.669000	0.05262	-0.545000	0.06224	-0.414000	0.06135	GGT		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		25	97	0	0	0	1	0	25	97				
ELK3	2004	broad.mit.edu	37	12	96617528	96617528	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:96617528G>A	ENST00000228741.3	+	2	510	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	RP11-394J1.2_ENST00000551844.1_RNA|ELK3_ENST00000552142.1_Missense_Mutation_p.A62T	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	62					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GCTGAGCAGAGCCCTGCGATA	0.468																																						ENST00000228741.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20						c.(184-186)Gcc>Acc		ELK3, ETS-domain protein (SRF accessory protein 2)							69.0	65.0	66.0					12																	96617528		2203	4300	6503	SO:0001583	missense	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96617528G>A	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.184G>A	12.37:g.96617528G>A	ENSP00000228741:p.Ala62Thr					ELK3_ENST00000552142.1_Missense_Mutation_p.A62T|RP11-394J1.2_ENST00000551844.1_RNA	p.A62T	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN			2	510	+	all_cancers(2;0.00173)		62					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	ENST00000228741.3	37	c.184G>A	CCDS9060.1	.	.	.	.	.	.	.	.	.	.	g	35	5.594493	0.96602	.	.	ENSG00000111145	ENST00000228741;ENST00000552142;ENST00000547860	T;T;T	0.71817	-0.6;-0.6;-0.6	5.48	5.48	0.80851	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	D	0.89829	0.6828	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92735	0.6203	10	0.87932	D	0	.	19.3608	0.94436	0.0:0.0:1.0:0.0	.	62	P41970	ELK3_HUMAN	T	62	ENSP00000228741:A62T;ENSP00000449430:A62T;ENSP00000447857:A62T	ENSP00000228741:A62T	A	+	1	0	ELK3	95141659	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.590000	0.87494	0.561000	0.74099	GCC		0.468	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		10	44	0	0	0	1	0	10	44				
PDE4DIP	9659	broad.mit.edu	37	1	144916738	144916739	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:144916738_144916739insCT	ENST00000369354.3	-	13	1805_1806	c.1616_1617insAG	c.(1615-1617)agtfs	p.S539fs	PDE4DIP_ENST00000313431.9_Frame_Shift_Ins_p.S702fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Ins_p.S539fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Ins_p.S539fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Ins_p.S539fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Ins_p.S605fs|PDE4DIP_ENST00000529945.1_Frame_Shift_Ins_p.S702fs|PDE4DIP_ENST00000479408.2_Frame_Shift_Ins_p.S326fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Ins_p.S676fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Ins_p.S676fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	539					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCCTCAGGAGACTCTCCATACT	0.411			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(2104-2106)actfs		phosphodiesterase 4D interacting protein																																				SO:0001589	frameshift_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144916738_144916739insCT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1615_1616dupAG	1.37:g.144916741_144916742dupCT	ENSP00000358360:p.Ser539fs					PDE4DIP_ENST00000369349.3_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Ins_p.T676fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Ins_p.T676fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Ins_p.T702fs|PDE4DIP_ENST00000479408.2_Frame_Shift_Ins_p.T326fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Ins_p.T605fs	p.T702fs			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	9	2544_2545	-			539					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Frame_Shift_Ins	INS	ENST00000369354.3	37	c.2105_2106insAG	CCDS30824.1																																																																																				0.411	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		81	490						81	490	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	100990177	100990178	+	Frame_Shift_Ins	INS	-	-	T	rs7841915	byFrequency	TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr8:100990177_100990178insT	ENST00000360863.6	-	23	3680_3681	c.3486_3487insA	c.(3484-3489)aaattgfs	p.L1163fs	RGS22_ENST00000523437.1_Frame_Shift_Ins_p.L1151fs|RGS22_ENST00000523287.1_Frame_Shift_Ins_p.L982fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1163					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGGACTGCCAATTTTTTTTTCT	0.312																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(3484-3489)aatggcfs		regulator of G-protein signaling 22																																				SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:100990177_100990178insT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3487dupA	8.37:g.100990186_100990186dupT	ENSP00000354109:p.Leu1163fs					RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs|RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs	p.NG1162fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		23	3680_3681	-			1162					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Ins	INS	ENST00000360863.6	37	c.3486_3487insA	CCDS43758.1																																																																																				0.312	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		7	117						7	117	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89720726	89720729	+	Frame_Shift_Del	DEL	GGAA	GGAA	-			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr10:89720726_89720729delGGAA	ENST00000371953.3	+	8	2234_2237	c.877_880delGGAA	c.(877-882)ggaagtfs	p.GS293fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	293	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G293fs*14(2)|p.G165_*404del(1)|p.G293G(1)|p.W274_F341del(1)|p.G293fs*4(1)|p.G293*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTAGAAAATGGAAGTCTATGTGA	0.314		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		55	Whole gene deletion(37)|Deletion - Frameshift(12)|Deletion - In frame(2)|Unknown(2)|Substitution - Nonsense(1)|Substitution - coding silent(1)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G293fs*14(2)|p.G165_*404del(1)|p.G293G(1)|p.W274_F341del(1)|p.G293fs*4(1)|p.G293*(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|large_intestine(1)|stomach(1)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(877-882)gtfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720726_89720729delGGAA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.877_880delGGAA	10.37:g.89720726_89720729delGGAA	ENSP00000361021:p.Gly293fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.GS293fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2234_2237	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	293			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.877_880delGGAA	CCDS31238.1																																																																																				0.314	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		35	52						35	52	---	---	---	---
DNAJC4	3338	broad.mit.edu	37	11	63997567	63997567	+	5'Flank	DEL	A	A	-	rs10708923|rs63552063	byFrequency	TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr11:63997567delA	ENST00000321685.3	+	0	0				RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321460.5_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000355040.4_5'Flank	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4						protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						GTGACTTGGGAAAAAAAAAAA	0.498													|||unknown(HR)	2125	0.424321	0.4319	0.3833	5008	,	,		15038	0.4623		0.3926	False		,,,				2504	0.4366					ENST00000534988.1																			0																																																	SO:0001631	upstream_gene_variant	84304							g.chr11:63997567delA	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792		11.37:g.63997567delA	Exception_encountered													0	99	-								O14716	RNA	DEL	ENST00000321685.3	37		CCDS41666.1																																																																																				0.498	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			4	9						4	9	---	---	---	---
LOC101928880	101928880	broad.mit.edu	37	16	88226611	88226611	+	lincRNA	DEL	G	G	-			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr16:88226611delG	ENST00000569362.1	+	0	0				RP11-863P13.2_ENST00000568587.1_lincRNA																							tggtggtgatggtggtgatgg	0.522																																						ENST00000568587.1																			0																																																			0							g.chr16:88226611delG																													16.37:g.88226611delG														0	91	-									RNA	DEL	ENST00000569362.1	37																																																																																						0.522	LA16c-444G7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430450.1			2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578207	7578207	+	Frame_Shift_Del	DEL	A	A	-	rs587781386		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:7578207delA	ENST00000269305.4	-	6	831	c.642delT	c.(640-642)catfs	p.H214fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.H214fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.H214fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.H214fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H214fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.H214fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	214	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(5)|p.H214Q(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H214fs*7(1)|p.H214H(1)|p.H214_S215insX(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCACCACACTATGTCGAAAAG	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		30	Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Substitution - Missense(4)|Deletion - In frame(3)|Insertion - In frame(1)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.0?(8)|p.?(5)|p.H214Q(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H214fs*7(1)|p.H214H(1)|p.H214_S215insX(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)	biliary_tract(5)|large_intestine(4)|bone(4)|stomach(3)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|oesophagus(1)|liver(1)|skin(1)|lung(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(640-642)cafs	Other conserved DNA damage response genes	tumor protein p53							126.0	113.0	117.0					17																	7578207		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578207delA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.642delT	17.37:g.7578207delA	ENSP00000269305:p.His214fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.H214fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.H214fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H214fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.H214fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H214fs	p.H214fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	774	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	214		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.642delT	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	22						25	22	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	440452							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			3	3						3	3	---	---	---	---
