#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
BAZ2A	11176	broad.mit.edu	37	12	56998880	56998880	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:56998880G>A	ENST00000551812.1	-	14	2924	c.2731C>T	c.(2731-2733)Cct>Tct	p.P911S	BAZ2A_ENST00000379441.3_Missense_Mutation_p.P881S|BAZ2A_ENST00000179765.5_Missense_Mutation_p.P879S|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P909S	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	911	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGAAAGCCAGGATCATGGAGT	0.522																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(2635-2637)Cct>Tct		bromodomain adjacent to zinc finger domain, 2A							70.0	70.0	70.0					12																	56998880		2097	4222	6319	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56998880G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2731C>T	12.37:g.56998880G>A	ENSP00000446880:p.Pro911Ser					BAZ2A_ENST00000379441.3_Missense_Mutation_p.P881S|BAZ2A_ENST00000551812.1_Missense_Mutation_p.P911S|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P909S	p.P879S			Q9UIF9	BAZ2A_HUMAN			15	2834	-			911			DDT.		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.2635C>T	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137951	0.94517	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.75260	-0.85;-0.85;-0.92;-0.92	5.4	5.4	0.78164	DDT domain superfamily (1);DDT domain, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.86686	0.5992	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.86933	0.2074	10	0.54805	T	0.06	.	18.3346	0.90283	0.0:0.0:1.0:0.0	.	909;911	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	S	881;879;911;909	ENSP00000368754:P881S;ENSP00000179765:P879S;ENSP00000446880:P911S;ENSP00000447941:P909S	ENSP00000179765:P879S	P	-	1	0	BAZ2A	55285147	1.000000	0.71417	0.984000	0.44739	0.962000	0.63368	9.736000	0.98828	2.717000	0.92951	0.655000	0.94253	CCT		0.522	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		13	21	0	0	0	1	0	13	21				
SNW1	22938	broad.mit.edu	37	14	78197382	78197382	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr14:78197382C>T	ENST00000261531.7	-	10	1044	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	SNW1_ENST00000554775.1_Missense_Mutation_p.A166T|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A328T	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	328	SNW.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCTTTCTGGGCCATTTCTCTA	0.403																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(982-984)Gcc>Acc		SNW domain containing 1							145.0	143.0	143.0					14																	78197382		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78197382C>T	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.982G>A	14.37:g.78197382C>T	ENSP00000261531:p.Ala328Thr					SNW1_ENST00000554775.1_Missense_Mutation_p.A166T|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A328T	p.A328T	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	10	1044	-			328			SNW.		A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.982G>A	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354443	0.95830	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761	.	.	.	5.36	5.36	0.76844	SKI-interacting protein SKIP, SNW domain (1);	0.148708	0.64402	N	0.000011	D	0.89441	0.6716	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.994	D	0.92427	0.5950	9	0.87932	D	0	.	19.1193	0.93355	0.0:1.0:0.0:0.0	.	328;328	G3V3A4;Q13573	.;SNW1_HUMAN	T	328;166;328	.	ENSP00000261531:A328T	A	-	1	0	SNW1	77267135	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.438000	0.80431	2.511000	0.84671	0.573000	0.79308	GCC		0.403	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		4	97	0	0	0	1	0	4	97				
PTPN23	25930	broad.mit.edu	37	3	47450743	47450743	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:47450743G>A	ENST00000265562.4	+	17	1810	c.1733G>A	c.(1732-1734)cGt>cAt	p.R578H	PTPN23_ENST00000431726.1_Missense_Mutation_p.R452H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	578					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCAGCTGCGTGAGCTTATC	0.602																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(1732-1734)cGt>cAt		protein tyrosine phosphatase, non-receptor type 23							60.0	57.0	58.0					3																	47450743		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47450743G>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1733G>A	3.37:g.47450743G>A	ENSP00000265562:p.Arg578His					PTPN23_ENST00000431726.1_Missense_Mutation_p.R452H	p.R578H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	17	1810	+			578					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.1733G>A	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868975	0.91587	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.34859	1.34	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.66582	-0.5887	10	0.87932	D	0	-11.3473	15.5092	0.75766	0.0:0.0:1.0:0.0	.	452;578	B4DST5;Q9H3S7	.;PTN23_HUMAN	H	543;578	ENSP00000265562:R578H	ENSP00000265562:R578H	R	+	2	0	PTPN23	47425747	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.362000	0.97126	2.181000	0.69327	0.462000	0.41574	CGT		0.602	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		12	27	0	0	0	1	0	12	27				
APOH	350	broad.mit.edu	37	17	64224315	64224315	+	Splice_Site	SNP	C	C	T	rs113836465		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:64224315C>T	ENST00000205948.6	-	2	102		c.e2-1			NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)						blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTGGGACAGGCTGAAAGAGGG	0.408																																					Melanoma(155;624 1882 16869 48804 51309)	ENST00000205948.6																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.e2-1		apolipoprotein H (beta-2-glycoprotein I)							110.0	107.0	108.0					17																	64224315		2203	4300	6503	SO:0001630	splice_region_variant	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64224315C>T		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.65-1G>A	17.37:g.64224315C>T								NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		2	102	-								B2R9M3|Q9UCN7	Splice_Site	SNP	ENST00000205948.6	37		CCDS11663.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843053	0.51057	.	.	ENSG00000091583	ENST00000205948	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3113	0.82872	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	APOH	61654777	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	4.210000	0.58500	2.573000	0.86826	0.650000	0.86243	.		0.408	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042	Intron	29	46	0	0	0	1	0	29	46				
MAGEE1	57692	broad.mit.edu	37	X	75649951	75649951	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:75649951T>G	ENST00000361470.2	+	1	1906	c.1628T>G	c.(1627-1629)aTt>aGt	p.I543S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	543	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGGAGTGCATTTTTAGGTTT	0.468																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1627-1629)aTt>aGt		melanoma antigen family E, 1							38.0	36.0	36.0					X																	75649951		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649951T>G	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1628T>G	X.37:g.75649951T>G	ENSP00000354912:p.Ile543Ser						p.I543S	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	1906	+			543			MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1628T>G	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	T	4.116	0.019681	0.08006	.	.	ENSG00000198934	ENST00000361470	T	0.04809	3.55	2.34	1.08	0.20341	.	.	.	.	.	T	0.11965	0.0291	L	0.52905	1.665	0.09310	N	1	D	0.60575	0.988	D	0.64595	0.927	T	0.16276	-1.0408	9	0.87932	D	0	.	4.6494	0.12587	0.0:0.0:0.3342:0.6658	.	543	Q9HCI5	MAGE1_HUMAN	S	543	ENSP00000354912:I543S	ENSP00000354912:I543S	I	+	2	0	MAGEE1	75566355	1.000000	0.71417	0.001000	0.08648	0.003000	0.03518	2.127000	0.42035	0.189000	0.20188	0.481000	0.45027	ATT		0.468	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		15	38	0	0	0	1	0	15	38				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	31	0	0	0	1	0	3	31				
NGLY1	55768	broad.mit.edu	37	3	25792628	25792628	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:25792628A>G	ENST00000280700.5	-	4	779	c.619T>C	c.(619-621)Tca>Cca	p.S207P	NGLY1_ENST00000428257.1_Missense_Mutation_p.S207P|NGLY1_ENST00000422724.2_Missense_Mutation_p.S130P|NGLY1_ENST00000417874.2_Missense_Mutation_p.S165P|NGLY1_ENST00000396649.3_Missense_Mutation_p.S207P	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	207					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TTTTCTTGTGATTTCCTTTTT	0.348																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(619-621)Tca>Cca		N-glycanase 1							175.0	169.0	171.0					3																	25792628		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25792628A>G	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.619T>C	3.37:g.25792628A>G	ENSP00000280700:p.Ser207Pro					NGLY1_ENST00000396649.3_Missense_Mutation_p.S207P|NGLY1_ENST00000280700.5_Missense_Mutation_p.S207P|NGLY1_ENST00000417874.2_Missense_Mutation_p.S165P|NGLY1_ENST00000422724.2_Missense_Mutation_p.S130P	p.S207P	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			4	726	-			207					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.619T>C	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.840879	0.51057	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000422724;ENST00000417874	T;T;T;T;T;T	0.22539	2.1;2.1;2.1;2.1;1.95;2.1	5.76	-1.52	0.08637	.	0.430246	0.25714	N	0.028787	T	0.20901	0.0503	L	0.50333	1.59	0.22701	N	0.998831	B;P;P;P	0.37398	0.323;0.566;0.593;0.586	B;B;B;B	0.42692	0.163;0.395;0.382;0.192	T	0.20174	-1.0283	10	0.72032	D	0.01	-4.0049	9.3053	0.37872	0.3657:0.4959:0.1384:0.0	.	165;207;207;207	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	P	207;207;207;204;130;165	ENSP00000387430:S207P;ENSP00000280700:S207P;ENSP00000379886:S207P;ENSP00000307980:S204P;ENSP00000395878:S130P;ENSP00000389888:S165P	ENSP00000280700:S207P	S	-	1	0	NGLY1	25767632	0.997000	0.39634	0.974000	0.42286	0.258000	0.26162	0.754000	0.26390	0.070000	0.16634	-0.346000	0.07831	TCA		0.348	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			10	48	0	0	0	1	0	10	48				
LGALS8	3964	broad.mit.edu	37	1	236700805	236700805	+	Silent	SNP	G	G	A	rs188331225		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr1:236700805G>A	ENST00000366584.4	+	3	620	c.54G>A	c.(52-54)ccG>ccA	p.P18P	LGALS8_ENST00000526589.1_Silent_p.P18P|LGALS8_ENST00000341872.6_Silent_p.P18P|RP11-385F5.5_ENST00000608547.1_RNA|LGALS8_ENST00000352231.2_Silent_p.P18P|LGALS8_ENST00000323938.6_Silent_p.P18P|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526634.1_Silent_p.P18P|LGALS8_ENST00000527974.1_Silent_p.P18P|LGALS8_ENST00000525042.1_Silent_p.P18P|LGALS8_ENST00000450372.2_Silent_p.P18P|LGALS8_ENST00000416919.2_Silent_p.P18P	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	18					plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGGTAATCCCGTTTGTTGGCA	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		18499	0.0		0.001	False		,,,				2504	0.0					ENST00000526589.1																			0				kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20						c.(52-54)ccG>ccA		lectin, galactoside-binding, soluble, 8		G	,,,	0,4406		0,0,2203	107.0	89.0	95.0		54,54,54,54	-2.9	1.0	1		95	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LGALS8	NM_006499.4,NM_201543.2,NM_201544.2,NM_201545.2	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	18/360,18/318,18/318,18/360	236700805	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3964					cytoplasm|extracellular space	sugar binding	g.chr1:236700805G>A	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.54G>A	1.37:g.236700805G>A						LGALS8_ENST00000527974.1_Silent_p.P18P|LGALS8_ENST00000416919.2_Silent_p.P18P|LGALS8_ENST00000526634.1_Silent_p.P18P|LGALS8_ENST00000352231.2_Silent_p.P18P|LGALS8_ENST00000450372.2_Silent_p.P18P|LGALS8_ENST00000341872.6_Silent_p.P18P|LGALS8_ENST00000323938.6_Silent_p.P18P|LGALS8_ENST00000525042.1_Silent_p.P18P|LGALS8_ENST00000366584.4_Silent_p.P18P	p.P18P			O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		6	574	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	18					O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Silent	SNP	ENST00000366584.4	37	c.54G>A	CCDS1612.1																																																																																				0.368	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		29	36	0	0	0	1	0	29	36				
AGAP6	414189	broad.mit.edu	37	10	51769588	51769588	+	Missense_Mutation	SNP	G	G	A	rs533152789	byFrequency	TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr10:51769588G>A	ENST00000374056.4	+	7	2032	c.1634G>A	c.(1633-1635)cGt>cAt	p.R545H	AGAP6_ENST00000412531.3_Missense_Mutation_p.R568H			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	545	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CGGTGGATCCGTTCCAAATAT	0.577													.|||	2	0.000399361	0.0	0.0	5008	,	,		23782	0.001		0.0	False		,,,				2504	0.001					ENST00000374056.4																			0				NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(1633-1635)cGt>cAt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51769588G>A		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.1634G>A	10.37:g.51769588G>A	ENSP00000363168:p.Arg545His					AGAP6_ENST00000412531.3_Missense_Mutation_p.R568H	p.R545H			C9IYN2	C9IYN2_HUMAN			7	2032	+			568						Missense_Mutation	SNP	ENST00000374056.4	37	c.1634G>A		.	.	.	.	.	.	.	.	.	.	.	4.864	0.160569	0.09287	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	-0.093	0.13652	.	0.135172	0.51477	N	0.000085	T	0.56321	0.1977	M	0.81341	2.54	0.44447	D	0.997376	B	0.26902	0.163	B	0.24269	0.052	T	0.33523	-0.9865	9	0.54805	T	0.06	.	4.5664	0.12189	0.3304:0.0:0.6696:0.0	.	568	C9IYN2	.	H	568;545	.	ENSP00000363168:R568H	R	+	2	0	AGAP6	51439594	1.000000	0.71417	0.074000	0.20217	0.075000	0.17131	6.482000	0.73613	-1.381000	0.02112	-1.368000	0.01194	CGT		0.577	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		33	111	0	0	0	1	0	33	111				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000330386.6_Silent_p.Q2646Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	60	0	0	0	1	0	4	60				
SLC28A2	9153	broad.mit.edu	37	15	45554261	45554261	+	Silent	SNP	C	C	T	rs59889218	byFrequency	TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr15:45554261C>T	ENST00000347644.3	+	4	284	c.219C>T	c.(217-219)caC>caT	p.H73H	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	73					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	GCAAAACACACGCCAGCTTGT	0.393																																					NSCLC(92;493 1501 26361 28917 47116)	ENST00000347644.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26						c.(217-219)caC>caT		solute carrier family 28 (concentrative nucleoside transporter), member 2							186.0	170.0	175.0					15																	45554261		2198	4298	6496	SO:0001819	synonymous_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45554261C>T	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.219C>T	15.37:g.45554261C>T						CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	p.H73H	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	4	284	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	73					A8K7F9|O43239|Q52LZ0	Silent	SNP	ENST00000347644.3	37	c.219C>T	CCDS10121.1																																																																																				0.393	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		4	121	0	0	0	1	0	4	121				
COL4A5	1287	broad.mit.edu	37	X	107938545	107938545	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:107938545G>T	ENST00000361603.2	+	50	5096	c.4852G>T	c.(4852-4854)Ggt>Tgt	p.G1618C	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1624C	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1618	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		Missing (in APSX). {ECO:0000269|PubMed:7853788}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGCCTCCCCTGGTTCCTGCTT	0.498									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4870-4872)Ggt>Tgt		collagen, type IV, alpha 5							172.0	149.0	157.0					X																	107938545		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107938545G>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4852G>T	X.37:g.107938545G>T	ENSP00000354505:p.Gly1618Cys					COL4A5_ENST00000361603.2_Missense_Mutation_p.G1618C	p.G1624C	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			52	5114	+			1618		Missing (in APSX).	Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4870G>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802268	0.90538	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99418	-5.87;-5.87	5.43	5.43	0.79202	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97140	0.9824	10	0.87932	D	0	.	18.3588	0.90368	0.0:0.0:1.0:0.0	.	1621;1618	E7EVY4;P29400	.;CO4A5_HUMAN	C	1624;1618;1624	ENSP00000331902:G1624C;ENSP00000354505:G1618C	ENSP00000331902:G1624C	G	+	1	0	COL4A5	107825201	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.275000	0.75901	0.594000	0.82650	GGT		0.498	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			33	99	1	0	9.93527e-08	1	9.93527e-08	33	99				
TP53	7157	broad.mit.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:7576897G>A	ENST00000269305.4	-	9	1138	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q317*	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	317	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (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.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(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)	TTCTTTGGCTGGGGAGAGGAG	0.473		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"""		46	Substitution - Nonsense(29)|Whole gene deletion(8)|Deletion - Frameshift(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Unknown(1)	p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(1)	breast(7)|large_intestine(5)|skin(4)|bone(4)|upper_aerodigestive_tract(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|ovary(3)|central_nervous_system(2)|lung(2)|NS(2)|pancreas(2)|thyroid(1)|stomach(1)|soft_tissue(1)|liver(1)|endometrium(1)|oesophagus(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.(949-951)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53							129.0	119.0	122.0					17																	7576897		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7576897G>A	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.949C>T	17.37:g.7576897G>A	ENSP00000269305:p.Gln317*	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_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*	p.Q317*	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)	9	1081	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	317		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.949C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032676	0.93575	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.96	2.84	0.33178	.	1.146690	0.06159	N	0.675692	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-0.0856	5.403	0.16306	0.1029:0.0:0.6855:0.2116	.	.	.	.	X	317;317;317;317;317;306;185	.	ENSP00000269305:Q317X	Q	-	1	0	TP53	7517622	0.001000	0.12720	0.022000	0.16811	0.871000	0.50021	0.741000	0.26202	1.318000	0.45170	0.561000	0.74099	CAG		0.473	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	33	0	0	0	1	0	15	33				
MYH1	4619	broad.mit.edu	37	17	10411266	10411266	+	Silent	SNP	G	G	A	rs149473835		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:10411266G>A	ENST00000226207.5	-	17	1999	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	635	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTTCCACCGCCAGCCTCTG	0.383													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18380	0.0		0.0	False		,,,				2504	0.0					ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(1903-1905)ggC>ggT		myosin, heavy chain 1, skeletal muscle, adult		G		4,4402	8.1+/-20.4	0,4,2199	54.0	61.0	59.0		1905	-3.9	0.5	17	dbSNP_134	59	0,8600		0,0,4300	no	coding-synonymous	MYH1	NM_005963.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		635/1940	10411266	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10411266G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1905C>T	17.37:g.10411266G>A						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.G635G	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			17	1999	-			635			Myosin head-like.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.1905C>T	CCDS11155.1																																																																																				0.383	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		28	37	0	0	0	1	0	28	37				
COL2A1	1280	broad.mit.edu	37	12	48373309	48373309	+	Silent	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:48373309T>C	ENST00000380518.3	-	41	2882	c.2718A>G	c.(2716-2718)ggA>ggG	p.G906G	COL2A1_ENST00000337299.6_Silent_p.G837G|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	906	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGCCTGGGGGTCCAACGCGGC	0.602																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(2716-2718)ggA>ggG		collagen, type II, alpha 1	Collagenase(DB00048)						58.0	58.0	58.0					12																	48373309		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48373309T>C	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.2718A>G	12.37:g.48373309T>C						COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.G837G	p.G906G	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			41	2882	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	906			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.2718A>G	CCDS41778.1																																																																																				0.602	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		3	53	0	0	0	1	0	3	53				
GPR18	2841	broad.mit.edu	37	13	99908051	99908051	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr13:99908051G>A	ENST00000340807.3	-	3	632	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	GPR18_ENST00000397470.2_Missense_Mutation_p.L26F|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.L26F|UBAC2_ENST00000376440.2_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	26					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TAGAAGACAAGGGCTGCAATT	0.388																																						ENST00000340807.3																			0				endometrium(2)|large_intestine(2)|lung(6)	10						c.(76-78)Ctt>Ttt		G protein-coupled receptor 18	Glycine(DB00145)						131.0	130.0	131.0					13																	99908051		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99908051G>A	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"""GPCR / Class A : Orphans"""	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.76C>T	13.37:g.99908051G>A	ENSP00000343428:p.Leu26Phe					GPR18_ENST00000397473.2_Missense_Mutation_p.L26F|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.L26F	p.L26F			Q14330	GPR18_HUMAN			3	632	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		26					Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	37	c.76C>T	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573713	0.65765	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807;ENST00000416594	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.95	5.08	0.68730	.	0.078514	0.52532	D	0.000062	T	0.26810	0.0656	N	0.08118	0	0.58432	D	0.999999	P	0.47191	0.891	P	0.46940	0.532	T	0.07654	-1.0761	9	.	.	.	-16.1138	16.3083	0.82859	0.0:0.0:0.8666:0.1334	.	26	Q14330	GPR18_HUMAN	F	26	ENSP00000380613:L26F;ENSP00000380610:L26F;ENSP00000343428:L26F;ENSP00000401611:L26F	.	L	-	1	0	GPR18	98706052	1.000000	0.71417	0.847000	0.33407	0.750000	0.42670	5.384000	0.66225	1.475000	0.48197	0.563000	0.77884	CTT		0.388	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			8	85	0	0	0	1	0	8	85				
MKS1	54903	broad.mit.edu	37	17	56294063	56294063	+	Silent	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:56294063C>T	ENST00000393119.2	-	3	299	c.225G>A	c.(223-225)gaG>gaA	p.E75E	LPO_ENST00000582328.1_5'Flank|MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000313863.6_Silent_p.E75E|MKS1_ENST00000537529.2_Silent_p.E65E|MKS1_ENST00000337050.7_Silent_p.E75E	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	75					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAATCACAATCTCCTCCTCTT	0.502																																						ENST00000393119.2																			0				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(223-225)gaG>gaA		Meckel syndrome, type 1							154.0	159.0	157.0					17																	56294063		1983	4166	6149	SO:0001819	synonymous_variant	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56294063C>T	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.225G>A	17.37:g.56294063C>T						MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000313863.6_Silent_p.E75E|MKS1_ENST00000337050.7_Silent_p.E75E|MKS1_ENST00000537529.2_Silent_p.E65E	p.E75E	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN			3	299	-			75					B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	c.225G>A	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451501	0.43531	.	.	ENSG00000011143	ENST00000313863	.	.	.	5.53	2.4	0.29515	.	.	.	.	.	T	0.55986	0.1955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50259	-0.8849	4	.	.	.	-15.3485	7.7914	0.29123	0.0:0.6738:0.0:0.3262	.	.	.	.	K	76	.	.	R	-	2	0	MKS1	53649062	0.872000	0.30054	0.738000	0.30950	0.947000	0.59692	1.365000	0.34182	0.883000	0.36040	0.643000	0.83706	AGA		0.502	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		22	51	0	0	0	1	0	22	51				
OR6C3	254786	broad.mit.edu	37	12	55725991	55725991	+	Silent	SNP	C	C	T	rs375250219		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:55725991C>T	ENST00000379667.1	+	1	507	c.507C>T	c.(505-507)aaC>aaT	p.N169N		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	169					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GTGCTTCCAACGTCATTGATC	0.433																																						ENST00000379667.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(505-507)aaC>aaT		olfactory receptor, family 6, subfamily C, member 3		C		0,4406		0,0,2203	285.0	255.0	265.0		507	-3.5	0.0	12		265	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR6C3	NM_054104.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		169/312	55725991	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725991C>T	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.507C>T	12.37:g.55725991C>T							p.N169N	NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN			1	507	+			169						Silent	SNP	ENST00000379667.1	37	c.507C>T	CCDS31819.1																																																																																				0.433	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			45	160	0	0	0	1	0	45	160				
ITGAE	3682	broad.mit.edu	37	17	3653745	3653745	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:3653745A>G	ENST00000263087.4	-	16	2023	c.1925T>C	c.(1924-1926)cTc>cCc	p.L642P		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	642					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAAGTACTGGAGTCCTGGGGC	0.632																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1924-1926)cTc>cCc		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							60.0	52.0	54.0					17																	3653745		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3653745A>G	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1925T>C	17.37:g.3653745A>G	ENSP00000263087:p.Leu642Pro						p.L642P	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	16	2023	-			642					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.1925T>C	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	A	9.043	0.990113	0.18966	.	.	ENSG00000083457	ENST00000263087	T	0.69175	-0.38	4.31	4.31	0.51392	.	.	.	.	.	T	0.54983	0.1892	M	0.63169	1.94	0.58432	D	0.999998	P	0.42409	0.779	B	0.31547	0.132	T	0.60667	-0.7218	9	0.56958	D	0.05	.	6.7795	0.23638	0.8911:0.0:0.1089:0.0	.	642	P38570	ITAE_HUMAN	P	642	ENSP00000263087:L642P	ENSP00000263087:L642P	L	-	2	0	ITGAE	3600494	0.997000	0.39634	0.936000	0.37596	0.057000	0.15508	6.739000	0.74827	1.733000	0.51620	0.397000	0.26171	CTC		0.632	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		3	29	0	0	0	1	0	3	29				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			0							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	32	0	0	0	1	0	3	32				
SLC9C1	285335	broad.mit.edu	37	3	111983138	111983138	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:111983138C>T	ENST00000305815.5	-	9	1183	c.931G>A	c.(931-933)Gga>Aga	p.G311R	SLC9C1_ENST00000487372.1_Intron	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	311					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										ATTAGAAGTCCAAAGAAAGTA	0.244																																						ENST00000305815.5																			0											c.(931-933)Gga>Aga		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							27.0	30.0	29.0					3																	111983138		2172	4251	6423	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111983138C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.931G>A	3.37:g.111983138C>T	ENSP00000306627:p.Gly311Arg					SLC9C1_ENST00000487372.1_Intron	p.G311R	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			9	1183	-			311					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.931G>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255655	0.59321	.	.	ENSG00000172139	ENST00000305815	T	0.73897	-0.79	5.96	5.96	0.96718	Cation/H+ exchanger (1);	0.000000	0.64402	D	0.000010	D	0.84579	0.5503	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85256	0.1047	10	0.87932	D	0	-16.2579	15.9183	0.79539	0.0:1.0:0.0:0.0	.	311	Q4G0N8	S9A10_HUMAN	R	311	ENSP00000306627:G311R	ENSP00000306627:G311R	G	-	1	0	SLC9A10	113465828	1.000000	0.71417	0.986000	0.45419	0.284000	0.27059	3.919000	0.56439	2.820000	0.97059	0.609000	0.83330	GGA		0.244	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		7	18	0	0	0	1	0	7	18				
CA12	771	broad.mit.edu	37	15	63637702	63637702	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr15:63637702C>T	ENST00000178638.3	-	4	843	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	CA12_ENST00000344366.3_Missense_Mutation_p.V135I|CA12_ENST00000422263.2_Missense_Mutation_p.V75I	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	135					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	TGTCCGCTGACGGTGTGCTCA	0.647																																						ENST00000178638.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(403-405)Gtc>Atc		carbonic anhydrase XII	Acetazolamide(DB00819)						71.0	64.0	66.0					15																	63637702		2203	4300	6503	SO:0001583	missense	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63637702C>T	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.403G>A	15.37:g.63637702C>T	ENSP00000178638:p.Val135Ile					CA12_ENST00000422263.2_Missense_Mutation_p.V75I|CA12_ENST00000344366.3_Missense_Mutation_p.V135I	p.V135I	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN			4	843	-			135					B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	37	c.403G>A	CCDS10185.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.673632	0.00758	.	.	ENSG00000074410	ENST00000178638;ENST00000344366;ENST00000422263	T;T;T	0.72942	-0.7;-0.7;-0.7	5.09	-3.28	0.05033	Carbonic anhydrase, alpha-class, conserved site (1);Carbonic anhydrase, alpha-class, catalytic domain (4);	0.235946	0.42964	N	0.000622	T	0.42426	0.1202	N	0.11255	0.115	0.19775	N	0.999953	B;B;B	0.20261	0.035;0.043;0.004	B;B;B	0.19391	0.025;0.009;0.005	T	0.37663	-0.9696	10	0.07813	T	0.8	.	11.8841	0.52592	0.0:0.3744:0.0:0.6256	.	75;135;135	B3KUB4;O43570-2;O43570	.;.;CAH12_HUMAN	I	135;135;75	ENSP00000178638:V135I;ENSP00000343088:V135I;ENSP00000403028:V75I	ENSP00000178638:V135I	V	-	1	0	CA12	61424755	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.260000	0.02858	-0.752000	0.04728	-0.448000	0.05591	GTC		0.647	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		11	21	0	0	0	1	0	11	21				
CEP112	201134	broad.mit.edu	37	17	63847968	63847968	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:63847968T>A	ENST00000392769.2	-	21	2566	c.2348A>T	c.(2347-2349)gAg>gTg	p.E783V	CEP112_ENST00000541355.1_Missense_Mutation_p.E418V|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000535342.2_Missense_Mutation_p.E783V|CEP112_ENST00000537949.1_Missense_Mutation_p.E741V	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	783					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTTTTTCAGCTCTATTTTCAT	0.378																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(2347-2349)gAg>gTg		centrosomal protein 112kDa							201.0	187.0	192.0					17																	63847968		2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:63847968T>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2348A>T	17.37:g.63847968T>A	ENSP00000376522:p.Glu783Val					CEP112_ENST00000541355.1_Missense_Mutation_p.E418V|CEP112_ENST00000537949.1_Missense_Mutation_p.E741V|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000535342.2_Missense_Mutation_p.E783V	p.E783V	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			21	2566	-			783					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.2348A>T	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557522	0.65425	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.53857	0.76;0.76;0.6;0.76	5.05	5.05	0.67936	.	0.060984	0.64402	D	0.000008	T	0.59797	0.2220	L	0.40543	1.245	0.44214	D	0.99704	D;P;D	0.64830	0.982;0.95;0.994	P;P;P	0.57776	0.648;0.648;0.827	T	0.63594	-0.6602	10	0.66056	D	0.02	-17.2175	14.7888	0.69824	0.0:0.0:0.0:1.0	.	741;741;783	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	V	783;783;418;741	ENSP00000442784:E783V;ENSP00000376522:E783V;ENSP00000443711:E418V;ENSP00000440775:E741V	ENSP00000376522:E783V	E	-	2	0	CEP112	61278430	1.000000	0.71417	0.992000	0.48379	0.975000	0.68041	6.440000	0.73435	1.900000	0.55004	0.454000	0.30748	GAG		0.378	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		4	142	0	0	0	1	0	4	142				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	58	0	0	0	1	0	23	58				
LOC728323	728323	broad.mit.edu	37	2	243061143	243061143	+	RNA	SNP	A	A	G	rs202109001		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr2:243061143A>G	ENST00000456398.1	+	0	491																											CTTGGGAGAAACCTTTAATCG	0.358																																						ENST00000456398.1																			0																																																			0							g.chr2:243061143A>G																													2.37:g.243061143A>G														0	491	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.358	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			10	53	0	0	0	1	0	10	53				
LOC728323	728323	broad.mit.edu	37	2	243061183	243061183	+	RNA	SNP	C	C	T	rs188068415		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr2:243061183C>T	ENST00000456398.1	+	0	531																											ATTCAAGATACCCGAAGGTTC	0.358																																						ENST00000456398.1																			0																																																			0							g.chr2:243061183C>T																													2.37:g.243061183C>T														0	531	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.358	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			8	59	0	0	0	1	0	8	59				
DEGS2	123099	broad.mit.edu	37	14	100615600	100615600	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr14:100615600A>G	ENST00000305631.5	-	2	1105	c.530T>C	c.(529-531)gTc>gCc	p.V177A	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CTTGGGGTGGACGCAGAGCGG	0.667																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(529-531)gTc>gCc		delta(4)-desaturase, sphingolipid 2							37.0	41.0	40.0					14																	100615600		2203	4296	6499	SO:0001583	missense	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100615600A>G		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"""Fatty acid desaturases"""	20113	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 2"", ""dihydroceramide desaturase 2"""	610862	"""chromosome 14 open reading frame 66"", ""degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"""	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.530T>C	14.37:g.100615600A>G	ENSP00000307126:p.Val177Ala					DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	p.V177A	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			2	1105	-		Melanoma(154;0.212)	177						Missense_Mutation	SNP	ENST00000305631.5	37	c.530T>C	CCDS9956.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040514	0.35989	.	.	ENSG00000168350	ENST00000305631	T	0.15718	2.4	4.62	4.62	0.57501	Fatty acid desaturase, type 1 (1);	0.116848	0.56097	N	0.000022	T	0.31482	0.0798	M	0.91818	3.245	0.80722	D	1	B	0.20550	0.046	B	0.19946	0.027	T	0.32851	-0.9891	10	0.72032	D	0.01	-13.3503	14.2919	0.66284	1.0:0.0:0.0:0.0	.	177	Q6QHC5	DEGS2_HUMAN	A	177	ENSP00000307126:V177A	ENSP00000307126:V177A	V	-	2	0	DEGS2	99685353	1.000000	0.71417	0.954000	0.39281	0.050000	0.14768	9.226000	0.95229	1.842000	0.53543	0.459000	0.35465	GTC		0.667	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		16	42	0	0	0	1	0	16	42				
SERPINB5	5268	broad.mit.edu	37	18	61154285	61154285	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr18:61154285T>C	ENST00000382771.4	+	3	567	c.275T>C	c.(274-276)cTc>cCc	p.L92P	RP11-635N19.3_ENST00000602456.1_RNA|SERPINB5_ENST00000489441.1_Missense_Mutation_p.L92P	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	92					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ATCAAGCGGCTCTACGTAGAC	0.353																																						ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(274-276)cTc>cCc		serpin peptidase inhibitor, clade B (ovalbumin), member 5							88.0	86.0	87.0					18																	61154285		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61154285T>C	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.275T>C	18.37:g.61154285T>C	ENSP00000372221:p.Leu92Pro					SERPINB5_ENST00000489441.1_Missense_Mutation_p.L92P	p.L92P	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN			3	567	+			92					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.275T>C	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685960	0.68157	.	.	ENSG00000206075	ENST00000382771;ENST00000424602	D;D	0.87179	-2.22;-2.22	5.12	5.12	0.69794	Serpin domain (3);	0.099647	0.44483	D	0.000458	D	0.94938	0.8363	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96073	0.9047	10	0.87932	D	0	.	14.2016	0.65707	0.0:0.0:0.0:1.0	.	92;92	P36952;P36952-2	SPB5_HUMAN;.	P	92	ENSP00000372221:L92P;ENSP00000408821:L92P	ENSP00000372221:L92P	L	+	2	0	SERPINB5	59305265	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	4.871000	0.63042	2.065000	0.61736	0.528000	0.53228	CTC		0.353	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		4	104	0	0	0	1	0	4	104				
MAGEA8	4107	broad.mit.edu	37	X	149013818	149013818	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:149013818T>A	ENST00000542674.1	+	3	1293	c.772T>A	c.(772-774)Tac>Aac	p.Y258N	MAGEA8_ENST00000286482.1_Missense_Mutation_p.Y258N|MAGEA8_ENST00000535454.1_Missense_Mutation_p.Y258N	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	258	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGAGAACTACCTGGAGTA	0.577																																						ENST00000535454.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(772-774)Tac>Aac		melanoma antigen family A, 8							108.0	99.0	102.0					X																	149013818		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013818T>A		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.772T>A	X.37:g.149013818T>A	ENSP00000443776:p.Tyr258Asn					MAGEA8_ENST00000542674.1_Missense_Mutation_p.Y258N|MAGEA8_ENST00000286482.1_Missense_Mutation_p.Y258N	p.Y258N	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN			4	1321	+	Acute lymphoblastic leukemia(192;6.56e-05)		258			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.772T>A	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	13.76	2.331871	0.41297	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.30981	1.51;1.51;1.51	1.0	1.0	0.19881	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	H	0.96748	3.875	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51092	-0.8749	10	0.87932	D	0	.	3.9106	0.09201	0.0:0.0:0.0:1.0	.	258	P43361	MAGA8_HUMAN	N	258	ENSP00000438293:Y258N;ENSP00000443776:Y258N;ENSP00000286482:Y258N	ENSP00000286482:Y258N	Y	+	1	0	MAGEA8	148774476	0.007000	0.16637	0.158000	0.22627	0.292000	0.27327	1.327000	0.33746	0.636000	0.30508	0.158000	0.16466	TAC		0.577	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		34	182	0	0	0	1	0	34	182				
MTMR9	66036	broad.mit.edu	37	8	11180232	11180232	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr8:11180232G>A	ENST00000221086.3	+	10	2058	c.1585G>A	c.(1585-1587)Gtc>Atc	p.V529I	AF131216.6_ENST00000498997.2_RNA|MTMR9_ENST00000526292.1_Missense_Mutation_p.V444I	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	529						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ACAAGCAAAAGTCAATATCCT	0.418																																						ENST00000221086.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16						c.(1585-1587)Gtc>Atc		myotubularin related protein 9							77.0	76.0	77.0					8																	11180232		2203	4300	6503	SO:0001583	missense	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11180232G>A	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1585G>A	8.37:g.11180232G>A	ENSP00000221086:p.Val529Ile					MTMR9_ENST00000526292.1_Missense_Mutation_p.V444I|AF131216.6_ENST00000498997.2_RNA	p.V529I	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	10	2058	+			529					B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	ENST00000221086.3	37	c.1585G>A	CCDS5979.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.835885	0.50951	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	D;D	0.95205	-3.58;-3.64	5.7	5.7	0.88788	.	0.111230	0.64402	D	0.000010	D	0.91978	0.7459	L	0.43701	1.375	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	D	0.87490	0.2426	10	0.25751	T	0.34	.	18.81	0.92054	0.0:0.0:1.0:0.0	.	529	Q96QG7	MTMR9_HUMAN	I	529;444	ENSP00000221086:V529I;ENSP00000433239:V444I	ENSP00000221086:V529I	V	+	1	0	MTMR9	11217642	1.000000	0.71417	0.999000	0.59377	0.662000	0.39071	9.247000	0.95444	2.678000	0.91216	0.655000	0.94253	GTC		0.418	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		13	45	0	0	0	1	0	13	45				
MAGEC1	9947	broad.mit.edu	37	X	140996487	140996487	+	Silent	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:140996487T>C	ENST00000285879.4	+	4	3583	c.3297T>C	c.(3295-3297)ttT>ttC	p.F1099F	MAGEC1_ENST00000406005.2_Silent_p.F166F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1099	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTATTACCTTTCCATCCTCTT	0.448										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(3295-3297)ttT>ttC		melanoma antigen family C, 1							136.0	124.0	128.0					X																	140996487		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996487T>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3297T>C	X.37:g.140996487T>C		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Silent_p.F166F	p.F1099F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3583	+	Acute lymphoblastic leukemia(192;6.56e-05)		1099			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.3297T>C	CCDS35417.1																																																																																				0.448	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		53	193	0	0	0	1	0	53	193				
VNN1	8876	broad.mit.edu	37	6	133032924	133032924	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr6:133032924T>C	ENST00000367928.4	-	2	278	c.265A>G	c.(265-267)Agg>Ggg	p.R89G		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	89	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		AGAGAGTCCCTGTTGAAGTTC	0.433																																						ENST00000367928.4																			0				NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(265-267)Agg>Ggg		vanin 1							112.0	113.0	112.0					6																	133032924		2203	4300	6503	SO:0001583	missense	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133032924T>C	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.265A>G	6.37:g.133032924T>C	ENSP00000356905:p.Arg89Gly						p.R89G	NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	2	278	-	Breast(56;0.135)		89			CN hydrolase.		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	c.265A>G	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.707297	0.48412	.	.	ENSG00000112299	ENST00000367928	D	0.89681	-2.55	5.6	5.6	0.85130	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.060323	0.64402	D	0.000002	D	0.93719	0.7993	M	0.85945	2.785	0.47123	D	0.999322	D	0.67145	0.996	D	0.68039	0.955	D	0.94767	0.7941	10	0.87932	D	0	-20.3971	15.4376	0.75157	0.0:0.0:0.0:1.0	.	89	O95497	VNN1_HUMAN	G	89	ENSP00000356905:R89G	ENSP00000356905:R89G	R	-	1	2	VNN1	133074617	0.996000	0.38824	0.217000	0.23759	0.115000	0.19883	3.842000	0.55858	2.136000	0.66102	0.454000	0.30748	AGG		0.433	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			33	94	0	0	0	1	0	33	94				
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874|rs137852790|rs137852791		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:7578479G>A	ENST00000269305.4	-	5	640	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000420246.2_Missense_Mutation_p.P151S	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and 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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	CCGGGCGGGGGTGTGGAATCA	0.612		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"""		156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM012662|CM941326	TP53	M	rs28934874	c.(451-453)Ccc>Tcc	Other conserved DNA damage response genes	tumor protein p53							55.0	55.0	55.0					17																	7578479		2203	4300	6503	SO:0001583	missense	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.chr17:7578479G>A	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.451C>T	17.37:g.7578479G>A	ENSP00000269305:p.Pro151Ser	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_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S	p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	583	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and 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	Missense_Mutation	SNP	ENST00000269305.4	37	c.451C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460739	0.63513	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999985	D;P;P;P;D;P;D	0.89917	0.99;0.941;0.92;0.835;0.98;0.953;1.0	P;P;P;P;P;P;D	0.97110	0.793;0.749;0.814;0.652;0.837;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151S;ENSP00000352610:P151S;ENSP00000269305:P151S;ENSP00000398846:P151S;ENSP00000391127:P151S;ENSP00000391478:P151S;ENSP00000425104:P19S;ENSP00000423862:P58S;ENSP00000424104:P151S	ENSP00000269305:P151S	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	36	0	0	0	1	0	18	36				
OFD1	8481	broad.mit.edu	37	X	13767612	13767612	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:13767612A>G	ENST00000340096.6	+	9	1222	c.895A>G	c.(895-897)Aga>Gga	p.R299G	OFD1_ENST00000398395.3_Missense_Mutation_p.R299G|OFD1_ENST00000380567.1_Missense_Mutation_p.R159G|OFD1_ENST00000380550.3_Missense_Mutation_p.R299G|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	299					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCTAAGAGGAAGAGAAGCAGA	0.299																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(475-477)Aga>Gga		oral-facial-digital syndrome 1							65.0	63.0	64.0					X																	13767612		2203	4298	6501	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13767612A>G	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.895A>G	X.37:g.13767612A>G	ENSP00000344314:p.Arg299Gly					OFD1_ENST00000380550.3_Missense_Mutation_p.R299G|OFD1_ENST00000398395.3_Missense_Mutation_p.R299G|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.R299G	p.R159G			O75665	OFD1_HUMAN			10	1347	+			299					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.475A>G	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.106397	0.56291	.	.	ENSG00000046651	ENST00000380550;ENST00000398395;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D;D	0.97529	-4.07;-3.99;-4.42;-2.58	5.66	1.69	0.24217	.	0.042575	0.85682	D	0.000000	D	0.98093	0.9371	M	0.80746	2.51	0.32287	N	0.566779	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.974;0.999;0.994;0.99;0.999	D	0.98270	1.0503	10	0.51188	T	0.08	-13.6643	14.2389	0.65945	0.4439:0.5561:0.0:0.0	.	162;299;299;159;299	F5H2Z4;A8K2T9;O75665-3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	G	299;299;299;159;162	ENSP00000369923:R299G;ENSP00000381432:R299G;ENSP00000344314:R299G;ENSP00000369941:R159G	ENSP00000344314:R299G	R	+	1	2	OFD1	13677533	0.989000	0.36119	0.143000	0.22291	0.966000	0.64601	1.953000	0.40352	-0.073000	0.12842	0.486000	0.48141	AGA		0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		3	42	0	0	0	1	0	3	42				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	106	0	0	0	1	0	6	106				
MRC1	4360	broad.mit.edu	37	10	17891628	17891628	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr10:17891628C>T	ENST00000331429.2	+	7	1212	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	MRC1L1_ENST00000457317.1_Missense_Mutation_p.A370V																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGCCGTATGCCGGTCACTGT	0.443																																						ENST00000331429.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1108-1110)gCc>gTc									61.0	75.0	70.0					10																	17891628		2168	4167	6335	SO:0001583	missense	0							g.chr10:17891628C>T																												ENST00000331429.2:c.1109C>T	10.37:g.17891628C>T	ENSP00000332124:p.Ala370Val					MRC1L1_ENST00000457317.1_Missense_Mutation_p.A370V	p.A370V							7	1212	+									Missense_Mutation	SNP	ENST00000331429.2	37	c.1109C>T		.	.	.	.	.	.	.	.	.	.	C	16.48	3.135340	0.56828	.	.	ENSG00000183748	ENST00000331429;ENST00000457317	T;T	0.17370	2.28;2.28	3.74	3.74	0.42951	.	0.000000	0.53938	U	0.000041	T	0.16514	0.0397	.	.	.	0.40571	D	0.981302	P	0.41420	0.749	B	0.43575	0.424	T	0.18272	-1.0342	8	0.29301	T	0.29	-6.1652	11.2846	0.49214	0.0:0.8153:0.1847:0.0	.	370	B9EJA8	.	V	370	ENSP00000332124:A370V;ENSP00000391843:A370V	ENSP00000332124:A370V	A	+	2	0	AL928580.1	17931634	0.057000	0.20700	0.974000	0.42286	0.652000	0.38707	1.280000	0.33202	2.081000	0.62600	0.461000	0.40582	GCC		0.443	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			4	173	0	0	0	1	0	4	173				
DTWD1	56986	broad.mit.edu	37	15	49935734	49935734	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr15:49935734A>G	ENST00000251250.6	+	6	1081	c.874A>G	c.(874-876)Aaa>Gaa	p.K292E	DTWD1_ENST00000558653.1_Missense_Mutation_p.K292E|DTWD1_ENST00000415425.1_Missense_Mutation_p.K205E|DTWD1_ENST00000403028.3_Missense_Mutation_p.K292E	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	292										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AAAGAATGCCAAATGCTCTGG	0.289																																						ENST00000251250.6																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(874-876)Aaa>Gaa		DTW domain containing 1							77.0	87.0	84.0					15																	49935734		2192	4285	6477	SO:0001583	missense	56986							g.chr15:49935734A>G	BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.874A>G	15.37:g.49935734A>G	ENSP00000251250:p.Lys292Glu					DTWD1_ENST00000415425.1_Missense_Mutation_p.K205E|DTWD1_ENST00000558653.1_Missense_Mutation_p.K292E|DTWD1_ENST00000403028.3_Missense_Mutation_p.K292E	p.K292E	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)	6	1081	+		all_lung(180;0.0384)	292					Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	ENST00000251250.6	37	c.874A>G	CCDS10132.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.945450	0.92593	.	.	ENSG00000104047	ENST00000403028;ENST00000251250;ENST00000415425	T;T	0.26067	1.76;1.76	5.52	5.52	0.82312	DTW (1);	0.184987	0.56097	D	0.000029	T	0.38026	0.1025	M	0.67953	2.075	0.80722	D	1	P;P	0.45715	0.837;0.865	B;P	0.48189	0.434;0.57	T	0.12915	-1.0529	9	.	.	.	-13.409	15.6564	0.77140	1.0:0.0:0.0:0.0	.	205;292	Q8N5C7-2;Q8N5C7	.;DTWD1_HUMAN	E	292;292;205	ENSP00000385399:K292E;ENSP00000251250:K292E	.	K	+	1	0	DTWD1	47723026	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.070000	0.93974	2.100000	0.63781	0.533000	0.62120	AAA		0.289	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234		40	81	0	0	0	1	0	40	81				
KIF9	64147	broad.mit.edu	37	3	47307320	47307320	+	Silent	SNP	G	G	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:47307320G>C	ENST00000265529.3	-	9	1496	c.816C>G	c.(814-816)ctC>ctG	p.L272L	KIF9_ENST00000352910.4_Silent_p.L179L|KIF9_ENST00000335044.2_Silent_p.L272L|KIF9_ENST00000452770.2_Silent_p.L272L|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Silent_p.L272L			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	272	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCAGGAATGAGAGCGATTTGT	0.542																																					Colon(44;962 1147 15977 24541)	ENST00000335044.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(814-816)ctC>ctG		kinesin family member 9							211.0	181.0	191.0					3																	47307320		2203	4300	6503	SO:0001819	synonymous_variant	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47307320G>C	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.816C>G	3.37:g.47307320G>C						KIF9_ENST00000444589.2_Silent_p.L272L|KIF9_ENST00000452770.2_Silent_p.L272L|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Silent_p.L272L|KIF9_ENST00000352910.4_Silent_p.L179L	p.L272L	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	8	1173	-		Acute lymphoblastic leukemia(5;0.164)	272					Q86Z28|Q9H8A4	Silent	SNP	ENST00000265529.3	37	c.816C>G	CCDS2752.1																																																																																				0.542	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			38	80	0	0	0	1	0	38	80				
FBXO24	26261	broad.mit.edu	37	7	100189399	100189399	+	Silent	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr7:100189399T>C	ENST00000241071.6	+	4	754	c.432T>C	c.(430-432)gaT>gaC	p.D144D	FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Silent_p.D130D|FBXO24_ENST00000468962.1_Silent_p.D132D|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Silent_p.D182D|FBXO24_ENST00000360609.2_Silent_p.D130D	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	144					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCACCAAGGATCACGTCTTCA	0.602																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(430-432)gaT>gaC		F-box protein 24							86.0	81.0	83.0					7																	100189399		2203	4300	6503	SO:0001819	synonymous_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100189399T>C	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.432T>C	7.37:g.100189399T>C						FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Silent_p.D132D|FBXO24_ENST00000465843.1_Silent_p.D130D|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.D182D|FBXO24_ENST00000360609.2_Silent_p.D130D	p.D144D	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			4	754	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		144					A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	c.432T>C	CCDS5698.1																																																																																				0.602	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			17	74	0	0	0	1	0	17	74				
PLD2	5338	broad.mit.edu	37	17	4718863	4718863	+	Silent	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:4718863G>A	ENST00000263088.6	+	13	1397	c.1266G>A	c.(1264-1266)ctG>ctA	p.L422L	PLD2_ENST00000572940.1_Silent_p.L422L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	422					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CGCTGATGCTGCTGCACCCCA	0.582											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1264-1266)ctG>ctA		phospholipase D2	Choline(DB00122)						230.0	201.0	211.0					17																	4718863		2203	4300	6503	SO:0001819	synonymous_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4718863G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1266G>A	17.37:g.4718863G>A			OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	621	PLD2_ENST00000572940.1_Silent_p.L422L	p.L422L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			13	1397	+			422					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	c.1266G>A	CCDS11057.1																																																																																				0.582	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		41	136	0	0	0	1	0	41	136				
TTN	7273	broad.mit.edu	37	2	179419409	179419409	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr2:179419409C>G	ENST00000591111.1	-	282	83966	c.83742G>C	c.(83740-83742)tgG>tgC	p.W27914C	TTN_ENST00000589042.1_Missense_Mutation_p.W29555C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W26987C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W20682C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W20615C|TTN_ENST00000460472.2_Missense_Mutation_p.W20490C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27914	Fibronectin type-III 103. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CTGGAGGCCGCCAGAGAAGGG	0.473																																						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.(88663-88665)tgG>tgC		titin							113.0	115.0	115.0					2																	179419409		1985	4164	6149	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179419409C>G	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.83742G>C	2.37:g.179419409C>G	ENSP00000465570:p.Trp27914Cys					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W20490C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W26987C|TTN_ENST00000342175.6_Missense_Mutation_p.W20682C|TTN_ENST00000359218.5_Missense_Mutation_p.W20615C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W27914C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.W29555C	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)		332	88889	-			27914			Fibronectin type-III 115.		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.88665G>C		.	.	.	.	.	.	.	.	.	.	C	17.40	3.379973	0.61845	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.66	5.66	0.87406	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.95996	0.8696	H	0.98594	4.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97125	0.9814	9	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	20490;20615;20682;27914	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	26987;20490;20682;20615;20487	ENSP00000343764:W26987C;ENSP00000434586:W20490C;ENSP00000340554:W20682C;ENSP00000352154:W20615C	ENSP00000340554:W20682C	W	-	3	0	TTN	179127655	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	TGG		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	87	0	0	0	1	0	30	87				
FLT1	2321	broad.mit.edu	37	13	29041202	29041202	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr13:29041202T>C	ENST00000282397.4	-	3	477	c.226A>G	c.(226-228)Ata>Gta	p.I76V	FLT1_ENST00000539099.1_Missense_Mutation_p.I76V|FLT1_ENST00000541932.1_Missense_Mutation_p.I76V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	76	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GATTTAGTTATGCTCAGCCTT	0.418																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(226-228)Ata>Gta		fms-related tyrosine kinase 1	Sunitinib(DB01268)						228.0	209.0	215.0					13																	29041202		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29041202T>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.226A>G	13.37:g.29041202T>C	ENSP00000282397:p.Ile76Val					FLT1_ENST00000541932.1_Missense_Mutation_p.I76V|FLT1_ENST00000539099.1_Missense_Mutation_p.I76V	p.I76V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	3	477	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	76			Ig-like C2-type 1.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.226A>G	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	T	5.896	0.349472	0.11182	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000450836;ENST00000539099	T;T;T	0.19394	2.15;2.15;2.15	5.81	3.36	0.38483	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.202923	0.42294	N	0.000731	T	0.09113	0.0225	N	0.11789	0.175	0.38218	D	0.94066	B;B;B;B;B	0.18013	0.025;0.025;0.006;0.025;0.003	B;B;B;B;B	0.24155	0.039;0.023;0.051;0.023;0.014	T	0.18398	-1.0338	10	0.02654	T	1	.	7.6365	0.28270	0.0:0.2322:0.0:0.7678	.	76;76;76;76;76	P17948-4;P17948-3;B5A924;P17948-2;P17948	.;.;.;.;VGFR1_HUMAN	V	76	ENSP00000282397:I76V;ENSP00000437631:I76V;ENSP00000442630:I76V	ENSP00000282397:I76V	I	-	1	0	FLT1	27939202	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	0.700000	0.25601	0.989000	0.38761	0.528000	0.53228	ATA		0.418	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			6	158	0	0	0	1	0	6	158				
SNX25	83891	broad.mit.edu	37	4	186267775	186267775	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr4:186267775T>C	ENST00000504273.1	+	13	2074	c.1780T>C	c.(1780-1782)Tcg>Ccg	p.S594P	SNX25_ENST00000264694.8_Missense_Mutation_p.S594P|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	594	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TATGGAAAAGTCGAAGAATCA	0.338																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(1780-1782)Tcg>Ccg		sorting nexin 25							54.0	58.0	56.0					4																	186267775		2203	4297	6500	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186267775T>C	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1780T>C	4.37:g.186267775T>C	ENSP00000426255:p.Ser594Pro					SNX25_ENST00000264694.8_Missense_Mutation_p.S594P|SNX25_ENST00000512853.1_3'UTR	p.S594P			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	13	2074	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	594			PX.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.1780T>C	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.924703	0.73213	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.29397	1.57;1.57	5.02	5.02	0.67125	Phox homologous domain (5);	0.141865	0.50627	D	0.000117	T	0.54062	0.1835	M	0.65975	2.015	0.43555	D	0.995866	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.999	T	0.58239	-0.7671	10	0.72032	D	0.01	-9.8691	15.0355	0.71744	0.0:0.0:0.0:1.0	.	365;127;594	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	P	594;594;127	ENSP00000426255:S594P;ENSP00000264694:S594P	ENSP00000264693:S127P	S	+	1	0	SNX25	186504769	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.731000	0.68554	2.009000	0.58944	0.533000	0.62120	TCG		0.338	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		9	65	0	0	0	1	0	9	65				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	98	0	0	0	1	0	5	98				
PARD6B	84612	broad.mit.edu	37	20	49366352	49366352	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr20:49366352A>G	ENST00000371610.2	+	3	689	c.446A>G	c.(445-447)gAt>gGt	p.D149G	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	149	Interaction with PARD3 and CDC42. {ECO:0000250}.|Pseudo-CRIB.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ATAGACGTGGATATTCTCCCA	0.448																																						ENST00000371610.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(445-447)gAt>gGt		par-6 family cell polarity regulator beta							75.0	73.0	74.0					20																	49366352		2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366352A>G	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.446A>G	20.37:g.49366352A>G	ENSP00000360672:p.Asp149Gly					PARD6B_ENST00000396039.1_Intron	p.D149G	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN			3	689	+			149			Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.446A>G	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.812917	0.70912	.	.	ENSG00000124171	ENST00000371610	T	0.46451	0.87	6.02	4.9	0.64082	PDZ/DHR/GLGF (1);	0.043931	0.85682	D	0.000000	T	0.67144	0.2862	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72007	-0.4420	10	0.87932	D	0	-35.591	12.5669	0.56314	0.8753:0.0:0.0:0.1247	.	149	Q9BYG5	PAR6B_HUMAN	G	149	ENSP00000360672:D149G	ENSP00000360672:D149G	D	+	2	0	PARD6B	48799759	1.000000	0.71417	0.864000	0.33941	0.603000	0.37013	8.875000	0.92372	1.061000	0.40601	0.533000	0.62120	GAT		0.448	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		6	74	0	0	0	1	0	6	74				
MADCAM1	8174	broad.mit.edu	37	19	498503	498503	+	Silent	SNP	G	G	A			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr19:498503G>A	ENST00000215637.3	+	3	391	c.345G>A	c.(343-345)ccG>ccA	p.P115P	MADCAM1_ENST00000587541.1_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Silent_p.P115P|MADCAM1_ENST00000382683.4_Silent_p.P20P	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	115	Ig-like 2.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCTTCCCGGACCAGCTGA	0.706																																						ENST00000215637.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(343-345)ccG>ccA		mucosal vascular addressin cell adhesion molecule 1							25.0	33.0	30.0					19																	498503		2200	4299	6499	SO:0001819	synonymous_variant	8174				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		g.chr19:498503G>A	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.345G>A	19.37:g.498503G>A						MADCAM1_ENST00000587541.1_Intron|MADCAM1_ENST00000382683.4_Silent_p.P20P|MADCAM1_ENST00000346144.4_Silent_p.P115P|AC005775.2_ENST00000592413.1_RNA	p.P115P	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	391	+		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	115			Ig-like 2.		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Silent	SNP	ENST00000215637.3	37	c.345G>A	CCDS12028.1																																																																																				0.706	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		7	24	0	0	0	1	0	7	24				
CCDC27	148870	broad.mit.edu	37	1	3679740	3679740	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr1:3679740delG	ENST00000294600.2	+	7	1107	c.1023delG	c.(1021-1023)gagfs	p.E341fs		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	341	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGAGGACGAGGGCCTGGAAG	0.677																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(1021-1023)gafs		coiled-coil domain containing 27							43.0	43.0	43.0					1																	3679740		2181	4283	6464	SO:0001589	frameshift_variant	148870							g.chr1:3679740delG		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1023delG	1.37:g.3679740delG	ENSP00000294600:p.Glu341fs						p.E341fs	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	7	1107	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	341			Glu-rich.		Q5TBV3|Q96M50	Frame_Shift_Del	DEL	ENST00000294600.2	37	c.1023delG	CCDS50.1																																																																																				0.677	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		2	4						2	4	---	---	---	---
RAD54L	8438	broad.mit.edu	37	1	46743501	46743503	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr1:46743501_46743503delGAG	ENST00000371975.4	+	17	2556_2558	c.1882_1884delGAG	c.(1882-1884)gagdel	p.E629del	RAD54L_ENST00000442598.1_In_Frame_Del_p.E629del|LRRC41_ENST00000472710.1_5'Flank	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	629	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AGGGACCATTGAGGAGAAGATCT	0.527								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1882-1884)del	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)																																				SO:0001651	inframe_deletion	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46743501_46743503delGAG	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1882_1884delGAG	1.37:g.46743504_46743506delGAG	ENSP00000361043:p.Glu629del					RAD54L_ENST00000488942.1_3'UTR|RAD54L_ENST00000442598.1_In_Frame_Del_p.E629del	p.E629del	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	17	2556_2558	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	629			Helicase C-terminal.		Q5TE31|Q6IUY3	In_Frame_Del	DEL	ENST00000371975.4	37	c.1882_1884delGAG	CCDS532.1																																																																																				0.527	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		8	53						8	53	---	---	---	---
ALCAM	214	broad.mit.edu	37	3	105266056	105266057	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:105266056_105266057delTA	ENST00000306107.5	+	10	1668_1669	c.1168_1169delTA	c.(1168-1170)tatfs	p.Y390fs	ALCAM_ENST00000486979.2_Frame_Shift_Del_p.Y339fs|ALCAM_ENST00000472644.2_Frame_Shift_Del_p.Y390fs|ALCAM_ENST00000389927.4_Frame_Shift_Del_p.Y112fs	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	390	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGCTGGAAACTATGTCTGCGAA	0.381																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1168-1170)tfs		activated leukocyte cell adhesion molecule																																				SO:0001589	frameshift_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105266056_105266057delTA	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1168_1169delTA	3.37:g.105266056_105266057delTA	ENSP00000305988:p.Tyr390fs					ALCAM_ENST00000389927.4_Frame_Shift_Del_p.Y112fs|ALCAM_ENST00000472644.2_Frame_Shift_Del_p.Y390fs|ALCAM_ENST00000486979.2_Frame_Shift_Del_p.Y339fs	p.Y390fs	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			10	1668_1669	+			390			Ig-like C2-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Frame_Shift_Del	DEL	ENST00000306107.5	37	c.1168_1169delTA	CCDS33810.1																																																																																				0.381	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		35	94						35	94	---	---	---	---
HHLA2	11148	broad.mit.edu	37	3	108072600	108072603	+	Frame_Shift_Del	DEL	ACAA	ACAA	-	rs200858373		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:108072600_108072603delACAA	ENST00000357759.5	+	4	805_808	c.391_394delACAA	c.(391-396)acaaacfs	p.TN131fs	HHLA2_ENST00000467761.1_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000489514.2_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000467562.1_Frame_Shift_Del_p.TN67fs|HHLA2_ENST00000491820.1_Frame_Shift_Del_p.TN131fs	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	131	Ig-like V-type 1.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCAAGTGATTACAAACAAAGTGGT	0.382																																						ENST00000357759.5																			0				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						c.(391-396)acfs		HERV-H LTR-associating 2																																				SO:0001589	frameshift_variant	11148					integral to membrane		g.chr3:108072600_108072603delACAA	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.391_394delACAA	3.37:g.108072604_108072607delACAA	ENSP00000350402:p.Thr131fs					HHLA2_ENST00000489514.2_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000467562.1_Frame_Shift_Del_p.TN67fs|HHLA2_ENST00000491820.1_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000467761.1_Frame_Shift_Del_p.TN131fs	p.TN131fs	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN			4	805_808	+			131			Ig-like V-type 1.		B4DKN2|D3DN60|Q9NWQ6	Frame_Shift_Del	DEL	ENST00000357759.5	37	c.391_394delACAA	CCDS46883.1																																																																																				0.382	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		8	30						8	30	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143603376	143603378	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr8:143603376_143603378delCTT	ENST00000517894.1	+	21	3969_3971	c.3075_3077delCTT	c.(3073-3078)tccttc>tcc	p.F1026del	BAI1_ENST00000323289.5_In_Frame_Del_p.F1026del			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1026					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCTGTCCTCCTTCTGCTGGGTG	0.695																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3073-3078)tcc>tc		brain-specific angiogenesis inhibitor 1																																				SO:0001651	inframe_deletion	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143603376_143603378delCTT	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3075_3077delCTT	8.37:g.143603376_143603378delCTT	ENSP00000430945:p.Phe1026del					BAI1_ENST00000323289.5_In_Frame_Del_p.SF1025del	p.SF1025del			O14514	BAI1_HUMAN			21	3969_3971	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1025						In_Frame_Del	DEL	ENST00000517894.1	37	c.3075_3077delCTT																																																																																					0.695	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		11	15						11	15	---	---	---	---
RPL35	11224	broad.mit.edu	37	9	127623796	127623798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr9:127623796_127623798delCTT	ENST00000348462.3	-	2	88_90	c.40_42delAAG	c.(40-42)aagdel	p.K14del	ARPC5L_ENST00000353214.2_5'Flank|RPL35_ENST00000373570.4_In_Frame_Del_p.K14del	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	14					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GCAGCTCCTCCTTCTTCTTCCCG	0.621																																						ENST00000373570.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(40-42)del		ribosomal protein L35				0,4264		0,0,2132						5.4	1.0			55	1,8253		0,1,4126	no	coding	RPL35	NM_007209.3		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001651	inframe_deletion	11224				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome	g.chr9:127623796_127623798delCTT	U12465	CCDS6858.1	9q34.1	2011-04-06			ENSG00000136942	ENSG00000136942		"""L ribosomal proteins"""	10344	protein-coding gene	gene with protein product	"""60S ribosomal protein L35"""					11401437	Standard	NM_007209		Approved	L35	uc004boy.1	P42766	OTTHUMG00000020659	ENST00000348462.3:c.40_42delAAG	9.37:g.127623802_127623804delCTT	ENSP00000259469:p.Lys14del					RPL35_ENST00000348462.3_In_Frame_Del_p.K14del	p.K14del			P42766	RL35_HUMAN		GBM - Glioblastoma multiforme(294;0.182)	2	42_44	-			14					A8K4V7|Q4VBY5|Q5JTN5|Q6IBC7|Q96QJ7|Q9BYF4	In_Frame_Del	DEL	ENST00000348462.3	37	c.40_42delAAG	CCDS6858.1																																																																																				0.621	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054035.1	NM_007209		22	62						22	62	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94673311	94673314	+	Frame_Shift_Del	DEL	TCAG	TCAG	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:94673311_94673314delTCAG	ENST00000258526.4	+	22	3910_3913	c.3661_3664delTCAG	c.(3661-3666)tcagtcfs	p.SV1221fs	PLXNC1_ENST00000547057.1_Frame_Shift_Del_p.SV268fs|RP11-1105G2.3_ENST00000551941.1_Intron|RP11-1105G2.4_ENST00000550111.1_RNA|RP11-1105G2.3_ENST00000547927.1_5'Flank|PLXNC1_ENST00000545312.1_5'UTR	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1221					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCGGAATATTTCAGTCAATGTTCT	0.402																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3661-3666)tcfs		plexin C1																																				SO:0001589	frameshift_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94673311_94673314delTCAG	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3661_3664delTCAG	12.37:g.94673311_94673314delTCAG	ENSP00000258526:p.Ser1221fs					PLXNC1_ENST00000545312.1_5'UTR|RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000547057.1_Frame_Shift_Del_p.SV268fs	p.SV1221fs	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			22	3910_3913	+			1221					Q59H25	Frame_Shift_Del	DEL	ENST00000258526.4	37	c.3661_3664delTCAG	CCDS9049.1																																																																																				0.402	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			34	94						34	94	---	---	---	---
SMOC1	64093	broad.mit.edu	37	14	70442502	70442502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr14:70442502delC	ENST00000381280.4	+	4	702	c.449delC	c.(448-450)tctfs	p.S150fs	SMOC1_ENST00000361956.3_Frame_Shift_Del_p.S150fs	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	150	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)	p.S150F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGTGGCTCTTCTGTGCAGAAT	0.522																																						ENST00000381280.4																			1	Substitution - Missense(1)	p.S150F(1)	skin(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(448-450)ttfs		SPARC related modular calcium binding 1							110.0	101.0	104.0					14																	70442502		2203	4300	6503	SO:0001589	frameshift_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70442502delC	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.449delC	14.37:g.70442502delC	ENSP00000370680:p.Ser150fs					SMOC1_ENST00000361956.3_Frame_Shift_Del_p.S150fs	p.S150fs	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	4	702	+			150			Thyroglobulin type-1 1.		A8K1S3|B2R7P5|Q96F78	Frame_Shift_Del	DEL	ENST00000381280.4	37	c.449delC	CCDS9798.1																																																																																				0.522	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			18	47						18	47	---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11135109	11135111	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr19:11135109_11135111delAAG	ENST00000429416.3	+	22	3357_3359	c.3076_3078delAAG	c.(3076-3078)aagdel	p.K1027del	SMARCA4_ENST00000444061.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K1027del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000358026.2_In_Frame_Del_p.K1027del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K1027del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K1027del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K1027del	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1027					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGAGAAGGACAAGAAGGTGGGCC	0.626			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3076-3078)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4																																				SO:0001651	inframe_deletion	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11135109_11135111delAAG	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3076_3078delAAG	19.37:g.11135112_11135114delAAG	ENSP00000395654:p.Lys1027del					SMARCA4_ENST00000413806.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000429416.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K1027del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K1027del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K1027del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K1027del	p.K1027del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			21	3360_3362	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1027					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	In_Frame_Del	DEL	ENST00000429416.3	37	c.3076_3078delAAG	CCDS12253.1																																																																																				0.626	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		16	34						16	34	---	---	---	---
P2RX6P	440799	broad.mit.edu	37	22	21396684	21396686	+	RNA	DEL	AAG	AAG	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr22:21396684_21396686delAAG	ENST00000450652.1	+	0	147				P2RX6P_ENST00000439119.1_RNA																							GTTGGTCACCAAGAAGAACACGT	0.571																																						ENST00000450652.1																			0																																																			0							g.chr22:21396684_21396686delAAG																													22.37:g.21396687_21396689delAAG						P2RX6P_ENST00000439119.1_RNA								0	147	+									RNA	DEL	ENST00000450652.1	37																																																																																						0.571	AC002472.11-001	KNOWN	basic	antisense	antisense	OTTHUMT00000320476.1			4	7						4	7	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76918921	76918921	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:76918921delT	ENST00000373344.5	-	12	4284	c.4070delA	c.(4069-4071)aagfs	p.K1357fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1319fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1357					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGGCTTTGTCTTTTTTTCTTC	0.383			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4069-4071)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						170.0	140.0	150.0					X																	76918921		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76918921delT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4070delA	X.37:g.76918921delT	ENSP00000362441:p.Lys1357fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1319fs	p.K1357fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			12	4284	-			1357					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4070delA	CCDS14434.1																																																																																				0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		44	111						44	111	---	---	---	---
