#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
MST1L	11223	broad.mit.edu	37	1	17087517	17087517	+	RNA	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:17087517G>A	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										TCCTGCCAAGGCCCGGGCACC	0.622																																						uc010ock.2																			0				breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						c.(148-150)Cct>Tct		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.																																						11223							g.chr1:17087517G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17087517G>A						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'Flank	p.P50S							1	148	-								B7WPB1|Q13209	Missense_Mutation	SNP	ENST00000455405.2	37	c.148C>T		.	.	.	.	.	.	.	.	.	.	.	3.069	-0.191631	0.06299	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	.	0.579548	0.14446	N	0.319042	T	0.32224	0.0822	.	.	.	.	.	.	B	0.22003	0.063	B	0.21917	0.037	T	0.25537	-1.0129	5	0.44086	T	0.13	.	.	.	.	.	50	Q2TV78-2	.	S	20;50;50	.	ENSP00000439273:P50S	P	-	1	0	MST1P9	16960104	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.000000	0.12993	-0.000000	0.14550	0.000000	0.15137	CCT		0.622	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733	
HSPG2	3339	broad.mit.edu	37	1	22211272	22211272	+	Missense_Mutation	SNP	C	C	T	rs376748881		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:22211272C>T	ENST00000374695.3	-	12	1574	c.1495G>A	c.(1495-1497)Gtc>Atc	p.V499I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	499	Ig-like C2-type 1.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGTTGTGGGACGAGCTCAAGG	0.667																																						uc009vqd.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(1495-1497)Gtc>Atc		Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	Becaplermin(DB00102)|Palifermin(DB00039)	C	ILE/VAL	0,4404		0,0,2202	42.0	33.0	36.0		1495	1.0	1.0	1		36	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSPG2	NM_005529.5	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	499/4392	22211272	1,13003	2202	4300	6502	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22211272C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1495G>A	1.37:g.22211272C>T	ENSP00000363827:p.Val499Ile					HSPG2_uc001bfj.3_Missense_Mutation_p.V499I	p.V499I	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	11	1535	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	499			Ig-like C2-type 1.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.1495G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	0.724	-0.782533	0.02907	0.0	1.16E-4	ENSG00000142798	ENST00000374695	T	0.75589	-0.95	5.32	1.03	0.20045	.	0.691467	0.11798	N	0.528448	T	0.53238	0.1784	N	0.21194	0.64	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.30327	-0.9982	10	0.14656	T	0.56	.	4.5687	0.12200	0.0:0.23:0.1592:0.6108	.	499	P98160	PGBM_HUMAN	I	499	ENSP00000363827:V499I	ENSP00000363827:V499I	V	-	1	0	HSPG2	22083859	1.000000	0.71417	0.981000	0.43875	0.430000	0.31655	1.621000	0.36986	-0.077000	0.12752	-0.367000	0.07326	GTC		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
DAB1	1600	broad.mit.edu	37	1	57535043	57535043	+	Missense_Mutation	SNP	T	T	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:57535043T>A	ENST00000371231.1	-	7	687	c.653A>T	c.(652-654)aAc>aTc	p.N218I	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371236.2_Missense_Mutation_p.N218I|DAB1_ENST00000371234.4_Missense_Mutation_p.N218I|DAB1_ENST00000414851.2_Intron			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	218					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTGATAAATGTTTTCTTCCGT	0.423																																						uc009vzx.1																			0		p.E217*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(652-654)aAc>aTc		Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.							166.0	150.0	155.0					1																	57535043		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57535043T>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.653A>T	1.37:g.57535043T>A	ENSP00000360275:p.Asn218Ile					DAB1_uc001cyt.1_Missense_Mutation_p.N218I|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Missense_Mutation_p.N218I	p.N218I	NM_021080	NP_066566	O75553	DAB1_HUMAN			7	973	-			218					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.653A>T		.	.	.	.	.	.	.	.	.	.	T	16.71	3.197792	0.58126	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000371231	T;T;T	0.47177	0.91;0.91;0.85	5.53	5.53	0.82687	.	0.092151	0.85682	D	0.000000	T	0.34019	0.0883	N	0.08118	0	0.80722	D	1	P;P	0.46706	0.883;0.744	P;B	0.44860	0.462;0.202	T	0.36016	-0.9765	10	0.56958	D	0.05	-35.1125	14.3878	0.66958	0.0:0.0:0.0:1.0	.	218;218	O75553;O75553-6	DAB1_HUMAN;.	I	218	ENSP00000360280:N218I;ENSP00000360278:N218I;ENSP00000360275:N218I	ENSP00000360275:N218I	N	-	2	0	DAB1	57307631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.601000	0.54059	2.324000	0.78689	0.533000	0.62120	AAC		0.423	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	
GBP2	2634	broad.mit.edu	37	1	89575480	89575482	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:89575480_89575482delCTC	ENST00000370466.3	-	10	1805_1807	c.1537_1539delGAG	c.(1537-1539)gagdel	p.E513del	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	513					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GTTCCATCATCTCCTCATTCTTC	0.404																																						uc001dmz.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(1537-1539)gagdel		Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.																																				SO:0001651	inframe_deletion	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89575480_89575482delCTC	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1537_1539delGAG	1.37:g.89575483_89575485delCTC	ENSP00000359497:p.Glu513del					GBP2_uc001dmy.1_Non-coding_Transcript	p.E513del	NM_004120	NP_004111	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	9	1808_1810	-		Lung NSC(277;0.0908)	513					Q6GPH0|Q6IAU2|Q86TB0	In_Frame_Del	DEL	ENST00000370466.3	37	c.1537_1539delGAG	CCDS719.1																																																																																				0.404	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120	
DCLRE1B	64858	broad.mit.edu	37	1	114448263	114448263	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:114448263C>T	ENST00000369563.3	+	1	501	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	AP4B1_ENST00000256658.4_5'Flank|DCLRE1B_ENST00000466480.1_3'UTR|AP4B1_ENST00000369567.1_5'Flank|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369569.1_5'Flank	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	19					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGAGCCTGCGCCGGGCTGG	0.642								Other identified genes with known or suspected DNA repair function																														uc001eeg.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(55-57)Cgc>Tgc	Other identified genes with known or suspected DNA repair function	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.							75.0	78.0	77.0					1																	114448263		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114448263C>T	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.55C>T	1.37:g.114448263C>T	ENSP00000358576:p.Arg19Cys					AP4B1_uc001eeb.3_5'Flank|AP4B1_uc001eec.3_5'Flank|AP4B1_uc010owp.2_5'Flank|AP4B1_uc001eed.3_5'Flank|AP4B1_uc010owq.2_5'Flank|DCLRE1B_uc001eeh.3_5'UTR|DCLRE1B_uc001eei.3_5'UTR	p.R19C	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	0	349	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	19					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.55C>T	CCDS866.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443654	0.83993	.	.	ENSG00000118655	ENST00000369563	T	0.76316	-1.01	5.56	3.7	0.42460	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	T	0.81221	0.4777	M	0.82056	2.57	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.81477	-0.0915	10	0.62326	D	0.03	-21.0491	5.4732	0.16682	0.2689:0.5803:0.0:0.1508	.	19	Q9H816	DCR1B_HUMAN	C	19	ENSP00000358576:R19C	ENSP00000358576:R19C	R	+	1	0	DCLRE1B	114249786	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.828000	0.39111	0.718000	0.32166	0.561000	0.74099	CGC		0.642	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836	
CASQ2	845	broad.mit.edu	37	1	116247851	116247851	+	Missense_Mutation	SNP	G	G	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:116247851G>C	ENST00000261448.5	-	9	1140	c.901C>G	c.(901-903)Ctg>Gtg	p.L301V	CASQ2_ENST00000456138.2_Missense_Mutation_p.L230V	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	301					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGGATGCTCAGATCGGGGTTG	0.547																																						uc001efx.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18						c.(901-903)Ctg>Gtg		Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.							154.0	144.0	147.0					1																	116247851		2203	4300	6503	SO:0001583	missense	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116247851G>C	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.901C>G	1.37:g.116247851G>C	ENSP00000261448:p.Leu301Val					CASQ2_uc010owu.2_Missense_Mutation_p.L230V	p.L301V	NM_001232	NP_001223	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	8	1165	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	301					B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	c.901C>G	CCDS884.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070287	0.55539	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.78364	-1.17;-1.17	5.58	0.847	0.18961	Thioredoxin-like fold (2);	0.068508	0.64402	D	0.000011	T	0.81133	0.4759	M	0.87180	2.865	0.51482	D	0.999926	D;D	0.76494	0.988;0.999	D;D	0.68483	0.938;0.958	T	0.78909	-0.2018	10	0.49607	T	0.09	-6.9504	6.3319	0.21274	0.3263:0.1195:0.5542:0.0	.	230;301	B4DIB0;O14958	.;CASQ2_HUMAN	V	301;230;255	ENSP00000261448:L301V;ENSP00000403858:L230V	ENSP00000261448:L301V	L	-	1	2	CASQ2	116049374	1.000000	0.71417	0.938000	0.37757	0.616000	0.37450	4.601000	0.61090	0.130000	0.18549	-0.136000	0.14681	CTG		0.547	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232	
PRSS38	339501	broad.mit.edu	37	1	228004940	228004940	+	Silent	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:228004940C>T	ENST00000366757.3	+	3	366	c.342C>T	c.(340-342)taC>taT	p.Y114Y		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	114	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATGACATGTACGTAGGCCTCG	0.562																																						uc001hrh.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(340-342)taC>taT		Homo sapiens protease, serine, 38 (PRSS38), mRNA.							129.0	107.0	114.0					1																	228004940		2203	4300	6503	SO:0001819	synonymous_variant	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228004940C>T		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.342C>T	1.37:g.228004940C>T							p.Y114Y	NM_183062	NP_898885	A1L453	PRS38_HUMAN			2	342	+			114			Peptidase S1.		Q7RTY6	Silent	SNP	ENST00000366757.3	37	c.342C>T	CCDS1563.1																																																																																				0.562	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062	
LYST	1130	broad.mit.edu	37	1	235866238	235866238	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:235866238C>T	ENST00000389794.3	-	45	10357	c.10183G>A	c.(10183-10185)Gtt>Att	p.V3395I	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.V3395I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3395	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGTCTCTGAACTGGATCTTCA	0.448																																						uc001hxj.2																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(10183-10185)Gtt>Att		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.							128.0	129.0	129.0					1																	235866238		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235866238C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10183G>A	1.37:g.235866238C>T	ENSP00000374444:p.Val3395Ile					LYST_uc001hxi.2_Missense_Mutation_p.V619I	p.V3395I	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		44	10358	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3395			BEACH.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10183G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257325	0.80246	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.64085	-0.08;-0.08	5.52	5.52	0.82312	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.69495	0.3117	N	0.20328	0.56	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73630	-0.3922	10	0.66056	D	0.02	.	19.4447	0.94841	0.0:1.0:0.0:0.0	.	3395	Q99698	LYST_HUMAN	I	3395	ENSP00000374444:V3395I;ENSP00000374443:V3395I	ENSP00000374443:V3395I	V	-	1	0	LYST	233932861	1.000000	0.71417	0.953000	0.39169	0.574000	0.36063	7.487000	0.81328	2.608000	0.88229	0.491000	0.48974	GTT		0.448	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
HEATR1	55127	broad.mit.edu	37	1	236749663	236749663	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:236749663C>A	ENST00000366582.3	-	15	1919	c.1805G>T	c.(1804-1806)tGt>tTt	p.C602F	HEATR1_ENST00000366581.2_Missense_Mutation_p.C602F	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	602					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGGCAGCAAACATACAACCAC	0.358																																						uc001hyd.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(1804-1806)tGt>tTt		Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.							112.0	115.0	114.0					1																	236749663		2203	4299	6502	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236749663C>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1805G>T	1.37:g.236749663C>A	ENSP00000355541:p.Cys602Phe						p.C602F	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		14	1957	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	602					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.1805G>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	0.609	-0.825976	0.02734	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.41758	0.99;0.99	5.42	1.68	0.24146	Armadillo-like helical (1);Armadillo-type fold (1);	0.854969	0.10988	N	0.611975	T	0.20700	0.0498	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.17592	-1.0364	10	0.42905	T	0.14	.	5.2519	0.15527	0.0:0.2211:0.1394:0.6395	.	602	Q9H583	HEAT1_HUMAN	F	602	ENSP00000355541:C602F;ENSP00000355540:C602F	ENSP00000355540:C602F	C	-	2	0	HEATR1	234816286	0.001000	0.12720	0.016000	0.15963	0.123000	0.20343	0.670000	0.25157	0.444000	0.26612	-0.440000	0.05779	TGT		0.358	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
NMT2	9397	broad.mit.edu	37	10	15183429	15183429	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:15183429G>A	ENST00000378165.4	-	2	318	c.238C>T	c.(238-240)Cct>Tct	p.P80S	NMT2_ENST00000535341.1_Silent_p.S52S|NMT2_ENST00000540259.1_5'UTR|NMT2_ENST00000378150.1_Silent_p.S52S	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	80					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ACTTTCGAAGGCTGCTGAATT	0.443																																					Melanoma(117;1345 1645 4130 12688 30625)	uc001inz.1																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						c.(238-240)Cct>Tct		Homo sapiens N-myristoyltransferase 2 (NMT2), mRNA.							154.0	164.0	161.0					10																	15183429		2203	4300	6503	SO:0001583	missense	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15183429G>A	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.238C>T	10.37:g.15183429G>A	ENSP00000367407:p.Pro80Ser					NMT2_uc001ioa.1_Silent_p.S52S|NMT2_uc010qbz.1_5'UTR	p.P80S	NM_004808	NP_004799	O60551	NMT2_HUMAN			1	322	-			80					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	c.238C>T	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643165	0.47153	.	.	ENSG00000152465	ENST00000378165;ENST00000378143	T	0.40225	1.04	5.91	5.0	0.66597	.	0.076103	0.56097	N	0.000033	T	0.32734	0.0839	L	0.29908	0.895	0.80722	D	1	B;B	0.16166	0.0;0.016	B;B	0.12837	0.002;0.008	T	0.06092	-1.0846	10	0.36615	T	0.2	-8.4725	14.1759	0.65542	0.0722:0.0:0.9278:0.0	.	80;80	B2RCF3;O60551	.;NMT2_HUMAN	S	80	ENSP00000367407:P80S	ENSP00000367385:P80S	P	-	1	0	NMT2	15223435	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.412000	0.59787	1.471000	0.48121	0.655000	0.94253	CCT		0.443	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808	
MYOZ1	58529	broad.mit.edu	37	10	75399754	75399754	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:75399754C>T	ENST00000359322.4	-	2	386	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TTATTAGGGGCCGGGGTTCCT	0.542																																						uc001jur.3																			0				central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12						c.(22-24)Gcc>Acc		Homo sapiens myozenin 1 (MYOZ1), mRNA.							159.0	141.0	147.0					10																	75399754		2203	4300	6503	SO:0001583	missense	58529				myofibril assembly	nucleus|pseudopodium	FATZ binding	g.chr10:75399754C>T	AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.22G>A	10.37:g.75399754C>T	ENSP00000352272:p.Ala8Thr						p.A8T	NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN			1	387	-	Prostate(51;0.0112)		8						Missense_Mutation	SNP	ENST00000359322.4	37	c.22G>A	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	C	34	5.340385	0.95783	.	.	ENSG00000177791	ENST00000359322	T	0.66638	-0.22	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	M	0.64567	1.98	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.79843	-0.1632	10	0.54805	T	0.06	-13.5991	17.6998	0.88291	0.0:1.0:0.0:0.0	.	8	Q9NP98	MYOZ1_HUMAN	T	8	ENSP00000352272:A8T	ENSP00000352272:A8T	A	-	1	0	MYOZ1	75069760	0.998000	0.40836	0.975000	0.42487	0.894000	0.52154	3.819000	0.55686	2.785000	0.95823	0.655000	0.94253	GCC		0.542	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1		
DLG5	9231	broad.mit.edu	37	10	79571808	79571808	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:79571808C>T	ENST00000372391.2	-	22	4201	c.4196G>A	c.(4195-4197)gGc>gAc	p.G1399D	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.G1059D	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1399	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGGTTTATGCCGTTGAACTG	0.642																																						uc001jzk.3																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(4195-4197)gGc>gAc		Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.							71.0	63.0	66.0					10																	79571808		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79571808C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4196G>A	10.37:g.79571808C>T	ENSP00000361467:p.Gly1399Asp					DLG5_uc001jzi.3_Missense_Mutation_p.G154D|DLG5_uc001jzj.3_Missense_Mutation_p.G814D|DLG5_uc009xru.1_Non-coding_Transcript	p.G1399D	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		21	4266	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1399			PDZ 3.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.4196G>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	34	5.351853	0.95830	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.41400	1.0;1.0;1.0	5.5	5.5	0.81552	PDZ/DHR/GLGF (4);	0.000000	0.39834	N	0.001255	T	0.68915	0.3053	M	0.81614	2.55	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.71570	-0.4553	10	0.66056	D	0.02	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	1399;1059	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	D	1399;360;1059	ENSP00000361467:G1399D;ENSP00000394797:G360D;ENSP00000361464:G1059D	ENSP00000361464:G1059D	G	-	2	0	DLG5	79241814	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.297000	0.78799	2.735000	0.93741	0.655000	0.94253	GGC		0.642	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		
EBF3	253738	broad.mit.edu	37	10	131676050	131676050	+	Silent	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:131676050T>C	ENST00000355311.5	-	7	690	c.618A>G	c.(616-618)cgA>cgG	p.R206R	EBF3_ENST00000368648.3_Silent_p.R206R			Q9H4W6	COE3_HUMAN	early B-cell factor 3	206					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCCGCATATCTCGAGGGTTGC	0.368																																						uc021qav.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(574-576)cgA>cgG		Homo sapiens early B-cell factor 3 (EBF3), mRNA.							122.0	109.0	113.0					10																	131676050		2203	4300	6503	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131676050T>C		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.618A>G	10.37:g.131676050T>C						EBF3_uc001lki.2_Silent_p.R206R	p.R192R	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	6	677	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	206					A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.576A>G																																																																																					0.368	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463	
TEAD1	7003	broad.mit.edu	37	11	12902599	12902599	+	Splice_Site	SNP	G	G	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr11:12902599G>C	ENST00000526600.1	+	2	447		c.e2+1		TEAD1_ENST00000361905.4_Splice_Site|TEAD1_ENST00000527575.1_Splice_Site|TEAD1_ENST00000527636.1_Splice_Site|TEAD1_ENST00000334310.6_Splice_Site|TEAD1_ENST00000361985.2_Splice_Site			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)						gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCTCACAAGAGTAAGTCTGAG	0.547																																						uc021qdx.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.e7+1		Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.							148.0	131.0	137.0					11																	12902599		2200	4294	6494	SO:0001630	splice_region_variant	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12902599G>C	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.224+1G>C	11.37:g.12902599G>C						TEAD1_uc001mkk.4_Splice_Site_p.D75_splice|TEAD1_uc009ygl.3_Splice_Site_p.D50_splice	p.D171_splice	NM_021961	NP_068780	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	7	1132	+			171			Pro-rich.|Transcriptional activation (Potential).		A4FUP2|E7EV65	Splice_Site	SNP	ENST00000526600.1	37	c.512_splice		.	.	.	.	.	.	.	.	.	.	G	26.8	4.771152	0.90108	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0724	0.93145	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEAD1	12859175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.593000	0.87608	0.655000	0.94253	.		0.547	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961	Intron
OR4C15	81309	broad.mit.edu	37	11	55322827	55322827	+	Missense_Mutation	SNP	C	C	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr11:55322827C>G	ENST00000314644.2	+	1	1045	c.1045C>G	c.(1045-1047)Cag>Gag	p.Q349E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGAAGTAAAACAGGCCATGAG	0.328										HNSCC(20;0.049)																												uc010rig.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(1045-1047)Cag>Gag		Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.							80.0	79.0	79.0					11																	55322827		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322827C>G	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.1045C>G	11.37:g.55322827C>G	ENSP00000324958:p.Gln349Glu	HNSCC(20;0.049)					p.Q349E	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			0	1045	+			295					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.1045C>G	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	4.573	0.106470	0.08780	.	.	ENSG00000181939	ENST00000314644	T	0.36699	1.24	5.02	1.31	0.21738	.	.	.	.	.	T	0.17959	0.0431	N	0.13098	0.295	0.19300	N	0.999979	B	0.06786	0.001	B	0.01281	0.0	T	0.26326	-1.0106	9	0.87932	D	0	.	0.8722	0.01217	0.4988:0.1688:0.1754:0.157	.	295	Q8NGM1	OR4CF_HUMAN	E	349	ENSP00000324958:Q349E	ENSP00000324958:Q349E	Q	+	1	0	OR4C15	55079403	0.000000	0.05858	0.791000	0.31998	0.021000	0.10359	-0.096000	0.11059	0.050000	0.15949	-0.815000	0.03128	CAG		0.328	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920	
LRFN4	78999	broad.mit.edu	37	11	66626230	66626230	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr11:66626230delG	ENST00000309602.4	+	1	1258	c.1015delG	c.(1015-1017)gggfs	p.G339fs	PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Frame_Shift_Del_p.G339fs|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	339	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CTTAGAGATTGGGGTGACCGG	0.677																																						uc001ojr.3																			0				breast(1)|lung(1)|prostate(1)	3						c.(1015-1017)gggfs		Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.							9.0	10.0	9.0					11																	66626230		2141	4216	6357	SO:0001589	frameshift_variant	78999					integral to membrane		g.chr11:66626230delG	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1015delG	11.37:g.66626230delG	ENSP00000312535:p.Gly339fs					PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Frame_Shift_Del_p.G339fs	p.G339fs	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN			0	1355	+			339			Ig-like.		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Frame_Shift_Del	DEL	ENST00000309602.4	37	c.1015delG	CCDS8153.1																																																																																				0.677	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036	
KRT80	144501	broad.mit.edu	37	12	52565281	52565281	+	Silent	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr12:52565281C>T	ENST00000394815.2	-	9	1357	c.1260G>A	c.(1258-1260)aaG>aaA	p.K420K	KRT80_ENST00000313234.5_3'UTR	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	420	Tail.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GGGAGGGGGCCTTGGAGAGGC	0.542																																					GBM(178;2309 2916 15678 35873)	uc001rzw.3																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(1363-1365)aaG>aaA		Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.							43.0	47.0	46.0					12																	52565281		2203	4300	6503	SO:0001819	synonymous_variant	144501					keratin filament	structural molecule activity	g.chr12:52565281C>T	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.1260G>A	12.37:g.52565281C>T						KRT80_uc001rzy.3_3'UTR|KRT80_uc001rzx.3_Silent_p.K420K	p.K455K	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	6	1416	-			420					Q6P1A5|Q7Z3Q0	Silent	SNP	ENST00000394815.2	37	c.1365G>A	CCDS8821.2																																																																																				0.542	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507	
LRIG3	121227	broad.mit.edu	37	12	59271381	59271381	+	Silent	SNP	G	G	A	rs376403609		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr12:59271381G>A	ENST00000320743.3	-	15	2623	c.2337C>T	c.(2335-2337)aaC>aaT	p.N779N	LRIG3_ENST00000379141.4_Silent_p.N719N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	779	Ig-like C2-type 3.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGAGGCGCACGTTTCCTCTCT	0.532			T	ROS1	NSCLC																																	uc001sqr.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2335-2337)aaC>aaT		Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.		G	,	3,4403	4.2+/-10.8	0,3,2200	177.0	143.0	155.0		2157,2337	0.7	0.3	12		155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LRIG3	NM_001136051.1,NM_153377.3	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	719/1060,779/1120	59271381	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59271381G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2337C>T	12.37:g.59271381G>A						LRIG3_uc009zqh.3_Silent_p.N719N|LRIG3_uc010ssh.2_Non-coding_Transcript	p.N779N	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		14	2583	-			779			Ig-like C2-type 3.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.2337C>T	CCDS8960.1																																																																																				0.532	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
ANKLE2	23141	broad.mit.edu	37	12	133327271	133327272	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr12:133327271_133327272delGA	ENST00000357997.5	-	3	893_894	c.804_805delTC	c.(802-807)tctcctfs	p.P269fs	ANKLE2_ENST00000539605.1_Frame_Shift_Del_p.P207fs|ANKLE2_ENST00000337516.5_Frame_Shift_Del_p.P269fs	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	269					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GTTTTCACAGGAGACAGTGGTA	0.426																																						uc001ukx.2																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(802-807)tctcctfs		Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.																																				SO:0001589	frameshift_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133327271_133327272delGA	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.804_805delTC	12.37:g.133327273_133327274delGA	ENSP00000350686:p.Pro269fs					ANKLE2_uc001uky.3_Frame_Shift_Del_p.S206fs	p.S268fs	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	2	871_872	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	268					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Frame_Shift_Del	DEL	ENST00000357997.5	37	c.804_805delTC	CCDS41869.1																																																																																				0.426	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1		
NOP9	161424	broad.mit.edu	37	14	24769334	24769334	+	Missense_Mutation	SNP	C	C	A	rs201814151		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:24769334C>A	ENST00000267425.3	+	1	267	c.174C>A	c.(172-174)agC>agA	p.S58R	DHRS1_ENST00000288111.7_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.S58R|DHRS1_ENST00000396813.1_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	58							poly(A) RNA binding (GO:0044822)	p.S58R(1)									CGCACCTGAGCCCGGAAGCTC	0.662																																						uc001wol.1																			1	Substitution - Missense(1)	p.S58R(2)	prostate(1)	breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17						c.(172-174)agC>agA		Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.							34.0	42.0	39.0					14																	24769334		2125	4259	6384	SO:0001583	missense	161424						RNA binding	g.chr14:24769334C>A		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.174C>A	14.37:g.24769334C>A	ENSP00000267425:p.Ser58Arg					C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.2_5'Flank|DHRS1_uc001wok.3_5'Flank	p.S58R	NM_174913	NP_777573	Q86U38	CN021_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	0	237	+			58					A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.174C>A	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714358	0.30413	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.32272	1.47;1.46	4.82	0.574	0.17368	.	0.193742	0.43110	D	0.000620	T	0.22003	0.0530	L	0.44542	1.39	0.28515	N	0.913331	B	0.06786	0.001	B	0.06405	0.002	T	0.14337	-1.0476	10	0.59425	D	0.04	6.6998	6.7073	0.23258	0.0:0.573:0.2777:0.1493	.	58	Q86U38	CN021_HUMAN	R	58	ENSP00000267425:S58R;ENSP00000380020:S58R	ENSP00000267425:S58R	S	+	3	2	C14orf21	23839174	0.810000	0.29049	0.999000	0.59377	0.007000	0.05969	-0.242000	0.08928	0.186000	0.20125	-1.559000	0.00887	AGC		0.662	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2		
TMEM260	54916	broad.mit.edu	37	14	57075891	57075891	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:57075891A>G	ENST00000261556.6	+	6	826	c.704A>G	c.(703-705)cAc>cGc	p.H235R	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.H235R	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	235						integral component of membrane (GO:0016021)											CCCTATGTCCACCTTCCCATC	0.488																																						uc001xcm.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(703-705)cAc>cGc		Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.							293.0	280.0	284.0					14																	57075891		2203	4300	6503	SO:0001583	missense	54916					integral to membrane		g.chr14:57075891A>G	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.704A>G	14.37:g.57075891A>G	ENSP00000261556:p.His235Arg					C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xck.3_Missense_Mutation_p.H235R|C14orf101_uc010aot.1_Missense_Mutation_p.H235R|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR	p.H235R	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	5	826	+			235					A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.704A>G	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463446	0.63513	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.41758	1.57;0.99	6.06	6.06	0.98353	.	0.114305	0.64402	D	0.000008	T	0.27967	0.0689	N	0.08118	0	0.80722	D	1	B	0.20550	0.046	B	0.17722	0.019	T	0.07947	-1.0746	10	0.59425	D	0.04	-13.0448	16.6245	0.84952	1.0:0.0:0.0:0.0	.	235	Q9NX78	CN101_HUMAN	R	235	ENSP00000261556:H235R;ENSP00000441934:H235R	ENSP00000261556:H235R	H	+	2	0	C14orf101	56145644	1.000000	0.71417	0.930000	0.37139	0.863000	0.49368	9.209000	0.95087	2.323000	0.78572	0.528000	0.53228	CAC		0.488	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799	
PAPOLA	10914	broad.mit.edu	37	14	96986512	96986512	+	Missense_Mutation	SNP	T	T	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:96986512T>G	ENST00000216277.8	+	2	349	c.129T>G	c.(127-129)atT>atG	p.I43M	PAPOLA_ENST00000557471.1_Missense_Mutation_p.I43M|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000392990.2_Missense_Mutation_p.I43M|PAPOLA_ENST00000557320.1_Missense_Mutation_p.I43M	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	43					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGAAACTAATTGAGACATTGA	0.408																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.3																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(127-129)atT>atG		Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.							103.0	94.0	97.0					14																	96986512		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:96986512T>G	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.129T>G	14.37:g.96986512T>G	ENSP00000216277:p.Ile43Met					PAPOLA_uc001yfp.3_Missense_Mutation_p.I43M|PAPOLA_uc001yfo.3_Missense_Mutation_p.I43M|PAPOLA_uc001yfr.3_Missense_Mutation_p.I43M|PAPOLA_uc010twv.2_Missense_Mutation_p.I43M|PAPOLA_uc010avp.3_5'UTR	p.I43M	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	1	346	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	43					Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.129T>G	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.908317	0.33721	.	.	ENSG00000090060	ENST00000216277;ENST00000557320;ENST00000546064;ENST00000557471;ENST00000556619;ENST00000392990	.	.	.	4.94	-5.11	0.02901	Poly(A) polymerase, central domain (1);	0.322094	0.32106	N	0.006567	T	0.39809	0.1092	L	0.31845	0.965	0.30556	N	0.764947	P;D;D;P;P	0.55605	0.762;0.972;0.972;0.717;0.923	B;P;P;B;P	0.60345	0.429;0.873;0.873;0.424;0.796	T	0.47724	-0.9095	9	0.46703	T	0.11	.	9.4831	0.38913	0.0:0.4578:0.1072:0.435	.	59;59;43;43;59	F5H5I8;B4DYF4;P51003;P51003-2;B4DHB8	.;.;PAPOA_HUMAN;.;.	M	43;43;59;43;43;43	.	ENSP00000216277:I43M	I	+	3	3	PAPOLA	96056265	0.001000	0.12720	0.036000	0.18154	0.961000	0.63080	-1.594000	0.02094	-1.266000	0.02446	0.528000	0.53228	ATT		0.408	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2		
WARS	7453	broad.mit.edu	37	14	100808747	100808747	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:100808747C>A	ENST00000355338.2	-	9	1719	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H	RP11-638I2.9_ENST00000556212.1_RNA|WARS_ENST00000556645.1_Missense_Mutation_p.Q326H|WARS_ENST00000557135.1_Missense_Mutation_p.Q367H|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000358655.4_Missense_Mutation_p.Q326H|WARS_ENST00000344102.5_Missense_Mutation_p.Q326H|WARS_ENST00000392882.2_Missense_Mutation_p.Q367H	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	367					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.Q367H(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TGGTTTTGATCTGCTTGGCCG	0.622																																						uc001yhh.1																			1	Substitution - Missense(1)	p.Q367H(2)	lung(1)	breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1099-1101)caG>caT		Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	L-Tryptophan(DB00150)						95.0	77.0	83.0					14																	100808747		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100808747C>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1101G>T	14.37:g.100808747C>A	ENSP00000347495:p.Gln367His					WARS_uc001yhi.1_Missense_Mutation_p.Q326H|WARS_uc001yhg.2_Missense_Mutation_p.Q367H|WARS_uc001yhl.1_Missense_Mutation_p.Q367H|WARS_uc001yhk.1_Missense_Mutation_p.Q326H	p.Q367H	NM_004184	NP_998811	P23381	SYWC_HUMAN			8	1482	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	367					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.1101G>T	CCDS9960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.31|18.31	3.596195|3.596195	0.66332|0.66332	.|.	.|.	ENSG00000140105|ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645|ENST00000554601	T;T;T;T;T;T|.	0.72942|.	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7|.	5.73|5.73	3.74|3.74	0.42951|0.42951	.|.	0.056280|.	0.64402|.	D|.	0.000001|.	T|T	0.81479|0.81479	0.4831|0.4831	H|H	0.96301|0.96301	3.8|3.8	0.80722|0.80722	D|D	1|1	P|.	0.44006|.	0.824|.	P|.	0.50659|.	0.647|.	T|T	0.82006|0.82006	-0.0671|-0.0671	10|5	0.72032|.	D|.	0.01|.	-5.5231|-5.5231	7.3656|7.3656	0.26770|0.26770	0.0:0.6029:0.0:0.3971|0.0:0.6029:0.0:0.3971	.|.	367|.	P23381|.	SYWC_HUMAN|.	H|I	367;326;367;326;367;326|120	ENSP00000376620:Q367H;ENSP00000351481:Q326H;ENSP00000347495:Q367H;ENSP00000339485:Q326H;ENSP00000451460:Q367H;ENSP00000451887:Q326H|.	ENSP00000339485:Q326H|.	Q|R	-|-	3|2	2|0	WARS|WARS	99878500|99878500	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.780000|0.780000	0.44128|0.44128	1.508000|1.508000	0.35769|0.35769	0.654000|0.654000	0.30846|0.30846	-0.140000|-0.140000	0.14226|0.14226	CAG|AGA		0.622	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184	
SPTBN5	51332	broad.mit.edu	37	15	42185109	42185109	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr15:42185109C>T	ENST00000320955.6	-	3	594	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	RP11-23P13.6_ENST00000568861.1_RNA|RP11-23P13.6_ENST00000309874.2_RNA|RP11-23P13.6_ENST00000562920.1_RNA|RP11-23P13.6_ENST00000564432.2_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	123	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGAGGAAGGCCAGAGCTCGG	0.687																																						uc001zos.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(262-264)Gcc>Acc		Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.							31.0	38.0	36.0					15																	42185109		1948	4149	6097	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42185109C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.367G>A	15.37:g.42185109C>T	ENSP00000317790:p.Ala123Thr						p.A88T	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	2	595	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	123			Actin-binding.|CH 1.			Missense_Mutation	SNP	ENST00000320955.6	37	c.262G>A		.	.	.	.	.	.	.	.	.	.	C	14.88	2.667098	0.47677	.	.	ENSG00000137877	ENST00000320955	D	0.95001	-3.58	5.15	4.22	0.49857	Calponin homology domain (5);	0.197230	0.33092	N	0.005289	D	0.84037	0.5384	N	0.08118	0	0.21256	N	0.999741	P	0.44776	0.843	P	0.44860	0.462	T	0.77822	-0.2445	10	0.06099	T	0.92	.	3.9717	0.09455	0.0:0.5763:0.2005:0.2232	.	123	Q9NRC6	SPTN5_HUMAN	T	123	ENSP00000317790:A123T	ENSP00000317790:A123T	A	-	1	0	SPTBN5	39972401	0.996000	0.38824	1.000000	0.80357	0.877000	0.50540	0.848000	0.27710	2.408000	0.81797	0.655000	0.94253	GCC		0.687	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
PDIA3	2923	broad.mit.edu	37	15	44055362	44055362	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr15:44055362C>T	ENST00000300289.5	+	5	708	c.560C>T	c.(559-561)aCg>aTg	p.T187M	PDIA3_ENST00000538521.1_Missense_Mutation_p.T167M	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	187					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TTTGCACATACGAATGTTGAG	0.408																																						uc001zsu.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17						c.(559-561)aCg>aTg		Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.							174.0	152.0	159.0					15																	44055362		2198	4298	6496	SO:0001583	missense	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44055362C>T		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.560C>T	15.37:g.44055362C>T	ENSP00000300289:p.Thr187Met					PDIA3_uc010bdp.3_Missense_Mutation_p.T167M|PDIA3_uc010ued.2_5'UTR	p.T187M	NM_005313	NP_005304	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	4	708	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	187					Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	c.560C>T	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.653775	0.67472	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000538521	D;D	0.82344	-1.6;-1.6	5.72	4.8	0.61643	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.91389	0.7283	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92691	0.6166	10	0.87932	D	0	.	16.8008	0.85614	0.0:0.8711:0.1289:0.0	.	167;187	G5EA52;P30101	.;PDIA3_HUMAN	M	187;162;167	ENSP00000300289:T187M;ENSP00000438260:T167M	ENSP00000300289:T187M	T	+	2	0	PDIA3	41842654	1.000000	0.71417	0.998000	0.56505	0.515000	0.34225	4.825000	0.62708	1.401000	0.46761	0.563000	0.77884	ACG		0.408	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313	
ADAMTSL3	57188	broad.mit.edu	37	15	84442304	84442304	+	Silent	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr15:84442304C>T	ENST00000286744.5	+	4	443	c.219C>T	c.(217-219)gaC>gaT	p.D73D	ADAMTSL3_ENST00000567476.1_Silent_p.D73D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	73						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGATGAAGACAAAGATGGCA	0.438																																						uc002bjz.4																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(217-219)gaC>gaT		Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.							132.0	123.0	126.0					15																	84442304		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84442304C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.219C>T	15.37:g.84442304C>T						ADAMTSL3_uc002bjy.1_Silent_p.D73D|ADAMTSL3_uc010bmt.1_Silent_p.D73D	p.D73D	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		3	443	+			73					A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.219C>T	CCDS10326.1																																																																																				0.438	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
ZFHX3	463	broad.mit.edu	37	16	72831003	72831003	+	Missense_Mutation	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr16:72831003T>C	ENST00000268489.5	-	9	6250	c.5578A>G	c.(5578-5580)Ata>Gta	p.I1860V	ZFHX3_ENST00000397992.5_Missense_Mutation_p.I946V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1860					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGGGCTATAGAGAGTTGG	0.532																																						uc002fck.3																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5578-5580)Ata>Gta		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.							105.0	109.0	108.0					16																	72831003		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831003T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5578A>G	16.37:g.72831003T>C	ENSP00000268489:p.Ile1860Val					ZFHX3_uc002fcl.3_Missense_Mutation_p.I946V	p.I1860V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			8	6251	-		Ovarian(137;0.13)	1860					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.5578A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	0.202	-1.044061	0.01997	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.72505	-0.66;-0.65	5.85	1.7	0.24286	.	0.822182	0.10098	N	0.716339	T	0.43233	0.1238	N	0.08118	0	0.19945	N	0.999946	B	0.06786	0.001	B	0.04013	0.001	T	0.22871	-1.0204	10	0.17369	T	0.5	.	2.4419	0.04497	0.1344:0.226:0.3999:0.2397	.	1860	Q15911	ZFHX3_HUMAN	V	1860;946	ENSP00000268489:I1860V;ENSP00000438926:I946V	ENSP00000268489:I1860V	I	-	1	0	ZFHX3	71388504	1.000000	0.71417	0.883000	0.34634	0.216000	0.24613	1.726000	0.38085	0.104000	0.17725	-0.828000	0.03084	ATA		0.532	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	uc002gim.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							50.0	50.0	50.0					17																	7578406		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.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7578460	7578460	+	Missense_Mutation	SNP	A	A	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:7578460A>C	ENST00000269305.4	-	5	659	c.470T>G	c.(469-471)gTc>gGc	p.V157G	TP53_ENST00000420246.2_Missense_Mutation_p.V157G|TP53_ENST00000445888.2_Missense_Mutation_p.V157G|TP53_ENST00000455263.2_Missense_Mutation_p.V157G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.V157G|TP53_ENST00000359597.4_Missense_Mutation_p.V157G	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (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.V157D(8)|p.0?(8)|p.V157G(7)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(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)	CATGGCGCGGACGCGGGTGCC	0.617		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)	uc002gim.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"""		53	Substitution - Missense(16)|Deletion - In frame(14)|Deletion - Frameshift(14)|Whole gene deletion(8)|Complex - frameshift(1)	p.V157F(151)|p.R156P(24)|p.V157D(16)|p.V157G(14)|p.R156fs*14(11)|p.V157I(10)|p.R156H(10)|p.0?(8)|p.V157L(6)|p.V157V(5)|p.R156_I162delRVRAMAI(4)|p.V157del(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.V157_C176del20(2)|p.R156_A161delRVRAMA(2)|p.P151_V173del23(2)|p.R156_V157del(2)|p.V157A(2)|p.R156_R158delRVR(2)|p.R156fs*12(2)|p.T155fs*23(2)|p.R156fs*18(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157fs*24(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R156fs*20(2)|p.R156C(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.T155_R156delTR(1)|p.R156_V157insV(1)|p.R156del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.R156fs*?(1)|p.G154fs*22(1)|p.T155_R156insDSTPPPGT(1)|p.G154_R156delGTR(1)|p.V157fs*23(1)|p.V157fs*25(1)	lung(8)|stomach(6)|oesophagus(6)|breast(5)|ovary(5)|upper_aerodigestive_tract(4)|central_nervous_system(4)|bone(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|pancreas(2)|biliary_tract(1)|prostate(1)|liver(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.(469-471)gTc>gGc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							51.0	52.0	51.0					17																	7578460		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.chr17:7578460A>C	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.470T>G	17.37:g.7578460A>C	ENSP00000269305:p.Val157Gly	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_uc002gig.1_Missense_Mutation_p.V157G|TP53_uc002gih.3_Missense_Mutation_p.V157G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V25G|TP53_uc010cnf.1_Missense_Mutation_p.V25G|TP53_uc002gii.1_Missense_Mutation_p.V25G|TP53_uc010cni.1_Missense_Mutation_p.V157G|TP53_uc010cnh.1_Missense_Mutation_p.V157G|TP53_uc002gij.2_Missense_Mutation_p.V157G|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V64G|TP53_uc002gio.2_Missense_Mutation_p.V25G|TP53_uc010vug.2_Missense_Mutation_p.V118G	p.V157G	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	664	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.470T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342925	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99825	-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99816	0.9919	M	0.86420	2.815	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.996;0.99;0.988;0.998;0.999;1.0	D	0.96765	0.9564	10	0.87932	D	0	-16.7152	13.8032	0.63214	1.0:0.0:0.0:0.0	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157G;ENSP00000352610:V157G;ENSP00000269305:V157G;ENSP00000398846:V157G;ENSP00000391127:V157G;ENSP00000391478:V157G;ENSP00000425104:V25G;ENSP00000423862:V64G;ENSP00000424104:V157G	ENSP00000269305:V157G	V	-	2	0	TP53	7519185	1.000000	0.71417	0.032000	0.17829	0.165000	0.22458	9.287000	0.95975	2.208000	0.71279	0.460000	0.39030	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ZNF207	7756	broad.mit.edu	37	17	30696410	30696410	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:30696410A>G	ENST00000321233.6	+	10	1367	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V	ZNF207_ENST00000394670.4_Missense_Mutation_p.M421V|ZNF207_ENST00000394673.2_Missense_Mutation_p.M390V|ZNF207_ENST00000342555.6_Missense_Mutation_p.M424V|ZNF207_ENST00000577908.1_Missense_Mutation_p.M421V|ZNF207_ENST00000341711.6_Missense_Mutation_p.M322V	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	405					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AATTGGAGGTATGATGCCACC	0.488																																						uc010csz.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(1270-1272)Atg>Gtg		Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.							128.0	130.0	129.0					17																	30696410		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30696410A>G	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1213A>G	17.37:g.30696410A>G	ENSP00000322777:p.Met405Val					ZNF207_uc002hhj.4_Missense_Mutation_p.M421V|ZNF207_uc002hhh.4_Missense_Mutation_p.M405V|ZNF207_uc002hhi.4_Missense_Mutation_p.M390V|ZNF207_uc002hhk.1_Missense_Mutation_p.M421V|ZNF207_uc002hhl.1_Non-coding_Transcript	p.M424V			O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		11	1617	+		Breast(31;0.116)|Ovarian(249;0.182)	405					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.1270A>G	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602260	0.46423	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T	0.40476	1.03;1.03	5.71	5.71	0.89125	.	0.074021	0.85682	D	0.000000	T	0.26122	0.0637	N	0.12182	0.205	0.53688	D	0.999977	B;B;B;B;B	0.25312	0.123;0.058;0.058;0.021;0.021	B;B;B;B;B	0.19666	0.026;0.01;0.01;0.006;0.006	T	0.09751	-1.0660	10	0.16420	T	0.52	.	15.9795	0.80097	1.0:0.0:0.0:0.0	.	374;424;421;390;405	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	V	421;374;424;390;322;405	ENSP00000378165:M421V;ENSP00000344913:M322V	ENSP00000322777:M390V	M	+	1	0	ZNF207	27720523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.168000	0.77570	2.168000	0.68352	0.477000	0.44152	ATG		0.488	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2		
TAF15	8148	broad.mit.edu	37	17	34171636	34171636	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:34171636G>A	ENST00000588240.1	+	15	1448	c.1333G>A	c.(1333-1335)Ggc>Agc	p.G445S	TAF15_ENST00000311979.3_Missense_Mutation_p.G442S|TAF15_ENST00000592237.1_Intron	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		aagtgggggcggctatggtgg	0.637			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	uc002hkd.3				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1333-1335)Ggc>Agc		Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.							19.0	20.0	20.0					17																	34171636		2201	4298	6499	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171636G>A	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1333G>A	17.37:g.34171636G>A	ENSP00000466950:p.Gly445Ser					TAF15_uc002hkc.3_Missense_Mutation_p.G442S	p.G445S	NM_139215	NP_631961	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	14	1419	+		Ovarian(249;0.17)	445			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.1333G>A	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757355	0.49468	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	D	0.95307	-3.67	4.25	2.19	0.27852	.	.	.	.	.	D	0.88392	0.6424	N	0.22421	0.69	0.25123	N	0.990622	B;B	0.19935	0.024;0.04	B;B	0.12837	0.003;0.008	T	0.80315	-0.1434	9	0.46703	T	0.11	-3.3061	8.6324	0.33928	0.1963:0.0:0.8037:0.0	.	445;442	Q92804;Q92804-2	RBP56_HUMAN;.	S	445;248	ENSP00000309558:G445S	ENSP00000309558:G445S	G	+	1	0	TAF15	31195749	0.286000	0.24305	1.000000	0.80357	0.909000	0.53808	0.897000	0.28390	1.019000	0.39547	0.591000	0.81541	GGC		0.637	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215	
NR1D1	9572	broad.mit.edu	37	17	38253028	38253028	+	Silent	SNP	C	C	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:38253028C>G	ENST00000246672.3	-	3	1005	c.375G>C	c.(373-375)ctG>ctC	p.L125L		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	125	Crucial for activation of GJA1. {ECO:0000250}.|Modulating.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					CCATGCCATTCAGCTCTGTGG	0.622																																						uc002htz.2																			0				endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11						c.(373-375)ctG>ctC		Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA.							75.0	57.0	63.0					17																	38253028		2203	4300	6503	SO:0001819	synonymous_variant	9572				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38253028C>G	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.375G>C	17.37:g.38253028C>G						NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_5'UTR	p.L125L	NM_021724	NP_068370	P20393	NR1D1_HUMAN			2	1001	-	Colorectal(19;0.000442)		125					Q0P5Z4|Q15304	Silent	SNP	ENST00000246672.3	37	c.375G>C	CCDS11361.1																																																																																				0.622	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1		
FBF1	85302	broad.mit.edu	37	17	73922854	73922854	+	Missense_Mutation	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:73922854T>C	ENST00000586717.1	-	9	811	c.538A>G	c.(538-540)Aca>Gca	p.T180A	FBF1_ENST00000389570.4_Missense_Mutation_p.T180A|FBF1_ENST00000319129.5_Missense_Mutation_p.T180A			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	180					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCTCTCACTGTGCTGGGGCTC	0.512																																						uc002jqc.3																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(538-540)Aca>Gca		Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.							56.0	56.0	56.0					17																	73922854		1953	4134	6087	SO:0001583	missense	85302							g.chr17:73922854T>C	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.538A>G	17.37:g.73922854T>C	ENSP00000465132:p.Thr180Ala					FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Missense_Mutation_p.T170A|FBF1_uc002jqd.1_Missense_Mutation_p.T180A	p.T180A	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN			8	812	-			180					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37	c.538A>G		.	.	.	.	.	.	.	.	.	.	T	7.079	0.569877	0.13560	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.18338	2.22;2.22	5.28	-2.89	0.05665	.	.	.	.	.	T	0.05731	0.0150	N	0.12182	0.205	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.39921	-0.9590	9	0.06891	T	0.86	-1.0E-4	1.9498	0.03364	0.1112:0.2657:0.3298:0.2933	.	194;180;180	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	A	180;180;180;193	ENSP00000374221:T180A;ENSP00000324292:T180A	ENSP00000324292:T180A	T	-	1	0	FBF1	71434449	0.000000	0.05858	0.000000	0.03702	0.471000	0.32888	-0.210000	0.09345	-0.890000	0.03945	0.533000	0.62120	ACA		0.512	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542	
OR10H2	26538	broad.mit.edu	37	19	15839024	15839024	+	Silent	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:15839024G>A	ENST00000305899.3	+	1	191	c.171G>A	c.(169-171)acG>acA	p.T57T		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCCTCCACACGCCCATGTACC	0.612																																						uc002nbm.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(169-171)acG>acA		Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.							205.0	166.0	179.0					19																	15839024		2203	4300	6503	SO:0001819	synonymous_variant	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839024G>A	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.171G>A	19.37:g.15839024G>A							p.T57T	NM_013939	NP_039227	O60403	O10H2_HUMAN			0	191	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		57					Q6IFQ1|Q96R58	Silent	SNP	ENST00000305899.3	37	c.171G>A	CCDS12333.1																																																																																				0.612	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1		
LRP3	4037	broad.mit.edu	37	19	33697915	33697915	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:33697915C>T	ENST00000253193.7	+	7	1949	c.1747C>T	c.(1747-1749)Cgc>Tgc	p.R583C	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	583					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGAATCTTCGCACAGCCAT	0.721																																						uc010edh.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(1747-1749)Cgc>Tgc		Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.							4.0	4.0	4.0					19																	33697915		1756	3467	5223	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33697915C>T	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1747C>T	19.37:g.33697915C>T	ENSP00000253193:p.Arg583Cys					LRP3_uc002nuk.4_Missense_Mutation_p.R457C	p.R583C	NM_002333	NP_002324	O75074	LRP3_HUMAN			6	1840	+	Esophageal squamous(110;0.137)		583					B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.1747C>T	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096155	0.76870	.	.	ENSG00000130881	ENST00000253193	D	0.94897	-3.55	4.31	3.22	0.36961	.	0.075992	0.52532	D	0.000061	D	0.95708	0.8604	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.95768	0.8806	10	0.87932	D	0	-31.7111	13.6924	0.62553	0.1651:0.8349:0.0:0.0	.	583;501	O75074;B7ZAJ9	LRP3_HUMAN;.	C	583	ENSP00000253193:R583C	ENSP00000253193:R583C	R	+	1	0	LRP3	38389755	1.000000	0.71417	0.993000	0.49108	0.933000	0.57130	4.314000	0.59166	2.245000	0.73994	0.491000	0.48974	CGC		0.721	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		
FFAR2	2867	broad.mit.edu	37	19	35940825	35940825	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:35940825C>T	ENST00000599180.2	+	2	289	c.209C>T	c.(208-210)gCg>gTg	p.A70V	FFAR2_ENST00000246549.2_Missense_Mutation_p.A70V|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	70					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATCGAGGCTGCGTCGAACTTC	0.637																																					GBM(40;139 809 9833 23358 48736)	uc002nzg.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(208-210)gCg>gTg		Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.							50.0	41.0	44.0					19																	35940825		2203	4300	6503	SO:0001583	missense	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940825C>T	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.209C>T	19.37:g.35940825C>T	ENSP00000473159:p.Ala70Val					FFAR2_uc010eea.3_Missense_Mutation_p.A70V	p.A70V	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	289	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		70					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	c.209C>T	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726572	0.30593	.	.	ENSG00000126262	ENST00000246549	T	0.37584	1.19	5.61	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.450275	0.23272	N	0.050009	T	0.31670	0.0804	L	0.58810	1.83	0.09310	N	1	P	0.49307	0.922	B	0.39904	0.313	T	0.21381	-1.0247	10	0.13470	T	0.59	-22.3343	12.8317	0.57750	0.0:0.9202:0.0:0.0798	.	70	O15552	FFAR2_HUMAN	V	70	ENSP00000246549:A70V	ENSP00000246549:A70V	A	+	2	0	FFAR2	40632665	0.000000	0.05858	0.063000	0.19743	0.002000	0.02628	0.405000	0.21015	1.512000	0.48834	0.655000	0.94253	GCG		0.637	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306	
ZNF283	284349	broad.mit.edu	37	19	44351487	44351487	+	Nonsense_Mutation	SNP	T	T	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:44351487T>A	ENST00000324461.7	+	7	1031	c.734T>A	c.(733-735)tTa>tAa	p.L245*	ZNF283_ENST00000588797.1_Nonsense_Mutation_p.L106*	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AAGAATTATTTAAGTGCCTAT	0.408																																						uc002oxr.4																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(733-735)tTa>tAa		Homo sapiens zinc finger protein 283 (ZNF283), mRNA.							65.0	75.0	72.0					19																	44351487		2184	4284	6468	SO:0001587	stop_gained	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44351487T>A	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.734T>A	19.37:g.44351487T>A	ENSP00000327314:p.Leu245*					ZNF283_uc002oxp.4_Nonsense_Mutation_p.L106*	p.L245*	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN			6	1002	+		Prostate(69;0.0352)	245					B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Nonsense_Mutation	SNP	ENST00000324461.7	37	c.734T>A	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	t	22.1	4.241534	0.79912	.	.	ENSG00000167637	ENST00000324461	.	.	.	3.49	2.47	0.30058	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	6.6506	0.22959	0.0:0.1226:0.0:0.8774	.	.	.	.	X	245	.	ENSP00000327314:L245X	L	+	2	0	ZNF283	49043327	0.263000	0.24083	0.389000	0.26208	0.511000	0.34104	-0.105000	0.10907	1.591000	0.50007	0.460000	0.39030	TTA		0.408	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845	
SAE1	10055	broad.mit.edu	37	19	47700626	47700626	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:47700626C>A	ENST00000270225.7	+	7	938	c.870C>A	c.(868-870)gaC>gaA	p.D290E	SAE1_ENST00000413379.3_Intron|SAE1_ENST00000540850.1_Missense_Mutation_p.D116E|SAE1_ENST00000392776.3_Intron|SAE1_ENST00000598840.1_Missense_Mutation_p.D209E	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	290					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTCCTGAGGACTTTGTCAGGT	0.398																																						uc002pgc.3																			0				endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13						c.(868-870)gaC>gaA		Homo sapiens SUMO1 activating enzyme subunit 1 (SAE1), transcript variant 1, mRNA.							220.0	188.0	199.0					19																	47700626		2203	4300	6503	SO:0001583	missense	10055				protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	g.chr19:47700626C>A	BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.870C>A	19.37:g.47700626C>A	ENSP00000270225:p.Asp290Glu					SAE1_uc002pgd.3_Intron|SAE1_uc010ekx.3_Intron|SAE1_uc010ekw.3_Non-coding_Transcript|SAE1_uc010xyk.2_Missense_Mutation_p.D116E|SAE1_uc002pge.3_Missense_Mutation_p.D226E	p.D290E	NM_005500	NP_005491	Q9UBE0	SAE1_HUMAN		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)	6	978	+		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	290					B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Missense_Mutation	SNP	ENST00000270225.7	37	c.870C>A	CCDS12696.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517963	0.44763	.	.	ENSG00000142230	ENST00000270225;ENST00000540850	T;T	0.38401	1.14;1.14	6.07	3.92	0.45320	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.139953	0.64402	D	0.000005	T	0.21801	0.0525	L	0.33339	1.005	0.44843	D	0.997851	B;B	0.12630	0.006;0.0	B;B	0.08055	0.003;0.0	T	0.08680	-1.0710	10	0.02654	T	1	.	9.5917	0.39550	0.0:0.7665:0.0:0.2335	.	116;290	B4DY66;Q9UBE0	.;SAE1_HUMAN	E	290;116	ENSP00000270225:D290E;ENSP00000440955:D116E	ENSP00000270225:D290E	D	+	3	2	SAE1	52392466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.613000	0.36900	0.851000	0.35264	0.655000	0.94253	GAC		0.398	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	NM_005500	
FOSL2	2355	broad.mit.edu	37	2	28635026	28635026	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:28635026C>T	ENST00000264716.4	+	4	1555	c.692C>T	c.(691-693)cCc>cTc	p.P231L	FOSL2_ENST00000379619.1_Missense_Mutation_p.P223L|FOSL2_ENST00000545753.1_Missense_Mutation_p.P192L	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	231					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GAGGACAGCCCCTCGTCCTCG	0.692																																						uc002rma.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(691-693)cCc>cTc		Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.							34.0	37.0	36.0					2																	28635026		2201	4292	6493	SO:0001583	missense	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28635026C>T		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.692C>T	2.37:g.28635026C>T	ENSP00000264716:p.Pro231Leu					FOSL2_uc021vfg.1_Missense_Mutation_p.P223L|FOSL2_uc010ymi.2_Missense_Mutation_p.P192L	p.P231L	NM_005253	NP_005244	P15408	FOSL2_HUMAN			3	1501	+	Acute lymphoblastic leukemia(172;0.155)		231					B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.692C>T	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189153	0.57909	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	T;T;T;T	0.80393	-1.37;-0.35;-1.03;-1.34	5.05	5.05	0.67936	.	0.400028	0.28414	N	0.015430	T	0.72036	0.3411	L	0.43152	1.355	0.50171	D	0.999854	P	0.50943	0.94	B	0.33568	0.166	T	0.75827	-0.3180	10	0.40728	T	0.16	-23.0029	18.5671	0.91120	0.0:1.0:0.0:0.0	.	231	P15408	FOSL2_HUMAN	L	223;231;192;192	ENSP00000368939:P223L;ENSP00000264716:P231L;ENSP00000396497:P192L;ENSP00000439303:P192L	ENSP00000264716:P231L	P	+	2	0	FOSL2	28488530	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.677000	0.46892	2.611000	0.88343	0.561000	0.74099	CCC		0.692	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253	
THADA	63892	broad.mit.edu	37	2	43520122	43520122	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:43520122G>A	ENST00000405006.4	-	32	5020	c.4669C>T	c.(4669-4671)Cgc>Tgc	p.R1557C	THADA_ENST00000415080.2_Missense_Mutation_p.R1238C|THADA_ENST00000405975.2_Missense_Mutation_p.R1557C|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1557										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GTTAGTGAGCGCACTTCAGGG	0.557																																						uc002rsw.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(4669-4671)Cgc>Tgc		Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.							38.0	38.0	38.0					2																	43520122		1927	4131	6058	SO:0001583	missense	63892						binding	g.chr2:43520122G>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4669C>T	2.37:g.43520122G>A	ENSP00000385995:p.Arg1557Cys					THADA_uc010far.3_Missense_Mutation_p.R752C|THADA_uc002rsx.4_Missense_Mutation_p.R1557C|THADA_uc002rsy.4_Non-coding_Transcript	p.R1557C	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN			31	5021	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1557					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.4669C>T	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418098	0.62622	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	T;T;T	0.80033	-1.33;-1.33;-1.33	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.85596	0.5733	L	0.36672	1.1	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.86056	0.1529	10	0.59425	D	0.04	-26.6449	16.9603	0.86271	0.0:0.0:1.0:0.0	.	1484;1557	B6ZDQ0;Q6YHU6	.;THADA_HUMAN	C	1557;1484;1238;1557	ENSP00000386088:R1557C;ENSP00000416048:R1238C;ENSP00000385995:R1557C	ENSP00000349464:R1484C	R	-	1	0	THADA	43373626	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	5.556000	0.67307	2.731000	0.93534	0.650000	0.86243	CGC		0.557	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	
FSHR	2492	broad.mit.edu	37	2	49190747	49190747	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:49190747C>T	ENST00000406846.2	-	10	1332	c.1213G>A	c.(1213-1215)Gcc>Acc	p.A405T	FSHR_ENST00000541117.1_Missense_Mutation_p.A141T|FSHR_ENST00000304421.4_Missense_Mutation_p.A379T|FSHR_ENST00000346173.3_Missense_Mutation_p.A343T	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	405					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCAGCAAAGGCCAGGTTGCAC	0.458									Gonadal Dysgenesis, 46 XX																													uc002rww.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1213-1215)Gcc>Acc		Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						137.0	134.0	135.0					2																	49190747		2203	4300	6503	SO:0001583	missense	2492	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190747C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1213G>A	2.37:g.49190747C>T	ENSP00000384708:p.Ala405Thr					FSHR_uc010fbn.3_Missense_Mutation_p.A379T|FSHR_uc002rwx.3_Missense_Mutation_p.A343T	p.A405T	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	1323	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	405					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1213G>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.565987	0.86439	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	H	0.96175	3.78	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.988;0.998;0.988	D	0.87327	0.2322	9	.	.	.	.	18.3052	0.90177	0.0:1.0:0.0:0.0	.	379;343;405	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	T	405;343;379;141	ENSP00000384708:A405T;ENSP00000333908:A343T;ENSP00000306780:A379T;ENSP00000444172:A141T	.	A	-	1	0	FSHR	49044251	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.801000	0.96364	0.655000	0.94253	GCC		0.458	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2		
CTNNA2	1496	broad.mit.edu	37	2	80085194	80085194	+	Silent	SNP	A	A	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:80085194A>C	ENST00000402739.4	+	3	359	c.354A>C	c.(352-354)gtA>gtC	p.V118V	CTNNA2_ENST00000361291.4_Silent_p.V152V|CTNNA2_ENST00000466387.1_Silent_p.V118V|CTNNA2_ENST00000540488.1_Silent_p.V118V|CTNNA2_ENST00000541047.1_Silent_p.V118V|CTNNA2_ENST00000496558.1_Silent_p.V118V	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	118					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTCGTCGGTAAAGCGCGGCA	0.582																																						uc010ysh.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(352-354)gtA>gtC		Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.							97.0	95.0	96.0					2																	80085194		2063	4190	6253	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80085194A>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.354A>C	2.37:g.80085194A>C						CTNNA2_uc010yse.2_Silent_p.V118V|CTNNA2_uc010ysf.2_Silent_p.V118V|CTNNA2_uc010ysg.2_Silent_p.V118V	p.V118V	NM_004389	NP_004380	P26232	CTNA2_HUMAN			2	359	+			118					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.354A>C																																																																																					0.582	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
SLC9A2	6549	broad.mit.edu	37	2	103274233	103274233	+	Missense_Mutation	SNP	G	G	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:103274233G>C	ENST00000233969.2	+	2	642	c.500G>C	c.(499-501)gGc>gCc	p.G167A		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	167					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAGAACATTGGCACGATTTTC	0.493																																						uc002tca.3																			0		p.I166I(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(499-501)gGc>gCc		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.							328.0	309.0	315.0					2																	103274233		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103274233G>C		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.500G>C	2.37:g.103274233G>C	ENSP00000233969:p.Gly167Ala						p.G167A	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			1	642	+			167					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.500G>C	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865014	0.91511	.	.	ENSG00000115616	ENST00000233969	T	0.16196	2.36	5.93	5.93	0.95920	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53151	-0.8479	10	0.87932	D	0	.	20.3507	0.98813	0.0:0.0:1.0:0.0	.	167	Q9UBY0	SL9A2_HUMAN	A	167	ENSP00000233969:G167A	ENSP00000233969:G167A	G	+	2	0	SLC9A2	102640665	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	9.860000	0.99555	2.808000	0.96608	0.655000	0.94253	GGC		0.493	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2		
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							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_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			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		
GIGYF2	26058	broad.mit.edu	37	2	233613794	233613794	+	Splice_Site	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:233613794T>C	ENST00000409547.1	+	7	578		c.e7+2		GIGYF2_ENST00000409451.3_Splice_Site|GIGYF2_ENST00000409480.1_Splice_Site|GIGYF2_ENST00000373566.3_Splice_Site|GIGYF2_ENST00000373563.4_Splice_Site|GIGYF2_ENST00000409196.3_Splice_Site	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAGAACAGGTTTGTGATTAG	0.433																																						uc002vtj.4																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.e6+2		Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.							165.0	173.0	170.0					2																	233613794		2203	4300	6503	SO:0001630	splice_region_variant	26058				cell death		protein binding	g.chr2:233613794T>C	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.267+2T>C	2.37:g.233613794T>C						GIGYF2_uc010zmj.1_Splice_Site_p.Q89_splice|GIGYF2_uc002vtg.2_Splice_Site_p.Q89_splice|GIGYF2_uc002vti.4_Splice_Site_p.Q89_splice|GIGYF2_uc002vtk.4_Splice_Site_p.Q89_splice|GIGYF2_uc002vth.4_Splice_Site_p.Q89_splice|GIGYF2_uc010zmk.2_Splice_Site	p.Q89_splice	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	6	534	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	89					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Splice_Site	SNP	ENST00000409547.1	37	c.267_splice	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354629	0.82243	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000428883;ENST00000409480;ENST00000421433;ENST00000425040;ENST00000430720;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000429187;ENST00000440945	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8529	0.78947	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GIGYF2	233322038	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.992000	0.88273	2.149000	0.67028	0.383000	0.25322	.		0.433	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	Intron
HELZ2	85441	broad.mit.edu	37	20	62200951	62200951	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr20:62200951C>T	ENST00000467148.1	-	4	707	c.638G>A	c.(637-639)gGc>gAc	p.G213D	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	213					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGGCGGGAGGCCGGGAGCCAC	0.697																																						uc002yfm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47						c.(637-639)gGc>gAc		Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.							8.0	9.0	9.0					20																	62200951		2129	4223	6352	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62200951C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.638G>A	20.37:g.62200951C>T	ENSP00000417401:p.Gly213Asp					PRIC285_uc002yfl.1_5'Flank	p.G213D	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		4	1530	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		213					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.638G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	0.517	-0.863820	0.02590	.	.	ENSG00000130589	ENST00000467148	T	0.02446	4.29	4.5	-1.56	0.08532	.	1.385570	0.04756	N	0.425436	T	0.02767	0.0083	L	0.46157	1.445	0.09310	N	1	P	0.46706	0.883	B	0.39419	0.299	T	0.43130	-0.9410	10	0.16420	T	0.52	-0.6954	3.0794	0.06256	0.1243:0.5494:0.1209:0.2054	.	213	Q9BYK8	PR285_HUMAN	D	213	ENSP00000417401:G213D	ENSP00000417401:G213D	G	-	2	0	RP4-697K14.7	61671395	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.525000	0.06214	-0.646000	0.05452	0.563000	0.77884	GGC		0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335	
UCKL1	54963	broad.mit.edu	37	20	62577191	62577191	+	Nonsense_Mutation	SNP	A	A	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr20:62577191A>T	ENST00000354216.6	-	4	591	c.549T>A	c.(547-549)taT>taA	p.Y183*	UCKL1_ENST00000369908.5_Nonsense_Mutation_p.Y168*|UCKL1_ENST00000369892.3_Nonsense_Mutation_p.Y183*|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000358711.3_Nonsense_Mutation_p.Y183*	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	183					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGTGAAGTCATAAATGGGCA	0.587																																						uc010gkn.3																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(547-549)taT>taA		Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.							229.0	225.0	227.0					20																	62577191		2203	4300	6503	SO:0001587	stop_gained	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62577191A>T	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.549T>A	20.37:g.62577191A>T	ENSP00000346155:p.Tyr183*					UCKL1_uc011abm.2_Nonsense_Mutation_p.Y168*|UCKL1_uc011abn.2_Non-coding_Transcript|UCKL1_uc011abo.2_Non-coding_Transcript	p.Y183*	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN			3	624	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		183					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Nonsense_Mutation	SNP	ENST00000354216.6	37	c.549T>A	CCDS13547.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.624113	0.87560	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000358711;ENST00000369908	.	.	.	5.64	-3.04	0.05412	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.9732	11.4587	0.50197	0.5735:0.0:0.4265:0.0	.	.	.	.	X	183;183;183;168	.	ENSP00000346155:Y183X	Y	-	3	2	UCKL1	62047635	0.374000	0.25081	0.952000	0.39060	0.828000	0.46876	-0.436000	0.06922	-0.358000	0.08162	-0.415000	0.06103	TAT		0.587	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859	
ZNF512B	57473	broad.mit.edu	37	20	62648082	62648082	+	Intron	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr20:62648082G>A	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.E511K			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCAGGATGCCGAGGAATGTGA	0.512																																						uc002yho.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1531-1533)Gag>Aag		Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.							124.0	107.0	113.0					20																	62648082		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62648082G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+31975C>T	20.37:g.62648082G>A						PRPF6_uc002yhp.3_Missense_Mutation_p.E511K	p.E511K	NM_012469	NP_036601	O94906	PRP6_HUMAN			11	1699	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		511					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.1531G>A	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382699	0.82792	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.37411	1.2;1.2	6.16	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	L	0.55213	1.73	0.80722	D	1	P;B	0.43701	0.815;0.089	B;B	0.36244	0.22;0.007	T	0.08166	-1.0735	10	0.27785	T	0.31	.	17.0397	0.86486	0.0:0.0:0.8724:0.1276	.	511;511	O94906-2;O94906	.;PRP6_HUMAN	K	511	ENSP00000266079:E511K;ENSP00000446216:E511K	ENSP00000266079:E511K	E	+	1	0	PRPF6	62118526	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	7.609000	0.82925	2.937000	0.99478	0.650000	0.86243	GAG		0.512	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	
MKL1	57591	broad.mit.edu	37	22	40814732	40814737	+	In_Frame_Del	DEL	GGGGGC	GGGGGC	-	rs144888766		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr22:40814732_40814737delGGGGGC	ENST00000355630.3	-	12	2295_2300	c.1705_1710delGCCCCC	c.(1705-1710)gcccccdel	p.AP569del	MKL1_ENST00000407029.1_In_Frame_Del_p.AP569del|MKL1_ENST00000396617.3_In_Frame_Del_p.AP569del|MKL1_ENST00000402042.1_In_Frame_Del_p.AP519del	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	569	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGGTGCCGAGgggggcgggggcgggg	0.723			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(1705-1710)gcccccdel		Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.				75,1267		36,3,632						2.1	0.0			2	45,3333		21,3,1665	no	coding	MKL1	NM_020831.3		57,6,2297	A1A1,A1R,RR		1.3321,5.5887,2.5424				120,4600				SO:0001651	inframe_deletion	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40814732_40814737delGGGGGC	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1705_1710delGCCCCC	22.37:g.40814738_40814743delGGGGGC	ENSP00000347847:p.Ala569_Pro570del					MKL1_uc010gyf.1_In_Frame_Del_p.AP519del|MKL1_uc003ayw.1_In_Frame_Del_p.AP569del|MKL1_uc010gye.1_In_Frame_Del_p.AP569del	p.AP569del	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			8	1912_1917	-			569			Pro-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	In_Frame_Del	DEL	ENST00000355630.3	37	c.1705_1710delGCCCCC	CCDS14003.1																																																																																				0.723	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831	
PRKCD	5580	broad.mit.edu	37	3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr3:53220653delG	ENST00000394729.2	+	13	1622	c.1294delG	c.(1294-1296)gggfs	p.G433fs	PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	433	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GTTCCTCAACGGGGGGGACCT	0.602																																						uc003dgl.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1294-1296)gggfs		Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.							215.0	220.0	218.0					3																	53220653		2203	4300	6503	SO:0001589	frameshift_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220653delG		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1294delG	3.37:g.53220653delG	ENSP00000378217:p.Gly433fs					PRKCD_uc003dgm.3_Frame_Shift_Del_p.G432fs	p.G432fs	NM_006254	NP_997704	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	13	1647	+		Ovarian(412;0.0728)	432			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Del	DEL	ENST00000394729.2	37	c.1294delG	CCDS2870.1																																																																																				0.602	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1		
RAP2B	5912	broad.mit.edu	37	3	152880606	152880606	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr3:152880606A>G	ENST00000323534.2	+	1	578	c.124A>G	c.(124-126)Aag>Gag	p.K42E	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	42					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTTTTACCGCAAGGAGATTGA	0.627																																						uc003ezr.3																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(124-126)Aag>Gag		Homo sapiens RAP2B, member of RAS oncogene family (RAP2B), mRNA.							107.0	105.0	106.0					3																	152880606		2203	4300	6503	SO:0001583	missense	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880606A>G		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.124A>G	3.37:g.152880606A>G	ENSP00000319096:p.Lys42Glu						p.K42E	NM_002886	NP_002877	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		0	578	+			42					P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	c.124A>G	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145743	0.77888	.	.	ENSG00000181467	ENST00000323534	T	0.78481	-1.18	4.71	3.53	0.40419	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.89798	0.6819	M	0.94142	3.5	0.58432	D	0.999999	D	0.65815	0.995	D	0.81914	0.995	D	0.90072	0.4164	10	0.87932	D	0	.	9.6905	0.40125	0.8247:0.1753:0.0:0.0	.	42	P61225	RAP2B_HUMAN	E	42	ENSP00000319096:K42E	ENSP00000319096:K42E	K	+	1	0	RAP2B	154363296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.088000	0.76901	0.798000	0.33994	0.460000	0.39030	AAG		0.627	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886	
MCCC1	56922	broad.mit.edu	37	3	182775185	182775185	+	Missense_Mutation	SNP	C	C	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr3:182775185C>G	ENST00000265594.4	-	8	933	c.787G>C	c.(787-789)Gat>Cat	p.D263H	MCCC1_ENST00000539926.1_Missense_Mutation_p.D128H|MCCC1_ENST00000492597.1_Missense_Mutation_p.D154H	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	263	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CCATGGTGATCACCAAACACC	0.413																																						uc003fle.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(787-789)Gat>Cat		Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	Biotin(DB00121)						90.0	75.0	80.0					3																	182775185		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182775185C>G	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.787G>C	3.37:g.182775185C>G	ENSP00000265594:p.Asp263His					MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Missense_Mutation_p.D146H|MCCC1_uc003flg.3_Missense_Mutation_p.D154H|MCCC1_uc011bqp.1_Missense_Mutation_p.D216H|MCCC1_uc011bqq.1_Missense_Mutation_p.D154H	p.D263H	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		7	924	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		263			ATP-grasp.|Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.787G>C	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457812	0.84317	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585;ENST00000541636	D;D;D;D	0.99259	-5.64;-5.64;-5.64;-5.64	5.37	5.37	0.77165	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99757	0.9902	H	0.99475	4.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96821	0.9604	10	0.87932	D	0	.	18.6938	0.91593	0.0:1.0:0.0:0.0	.	216;154;263	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	H	263;154;113;128;216;216;154	ENSP00000265594:D263H;ENSP00000419898:D154H;ENSP00000441253:D128H;ENSP00000420433:D216H	ENSP00000265594:D263H	D	-	1	0	MCCC1	184257879	1.000000	0.71417	0.379000	0.26080	0.902000	0.53008	7.161000	0.77505	2.515000	0.84797	0.467000	0.42956	GAT		0.413	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166	
ZNF595	152687	broad.mit.edu	37	4	59387	59387	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr4:59387C>A	ENST00000509152.2	+	2	253	c.68C>A	c.(67-69)cCt>cAt	p.P23H	ZNF595_ENST00000526473.2_Missense_Mutation_p.P23H|ZNF595_ENST00000339368.6_3'UTR			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P23H(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGTCTGGACCCTGCCCAGCAG	0.423																																						uc003fzv.1																			1	Substitution - Missense(1)	p.P23H(1)	lung(1)								c.(67-69)cCt>cAt		Homo sapiens zinc finger protein 595 (ZNF595), mRNA.							367.0	400.0	389.0					4																	59387		2203	4300	6503	SO:0001583	missense	152687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:59387C>A	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.68C>A	4.37:g.59387C>A	ENSP00000434858:p.Pro23His					ZNF718_uc003fzt.4_Missense_Mutation_p.P23H|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron	p.P23H	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	1	224	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	23	I -> T (in Ref. 1; AAI04028).		KRAB.			Missense_Mutation	SNP	ENST00000509152.2	37	c.68C>A		.	.	.	.	.	.	.	.	.	.	C	7.875	0.729054	0.15507	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.02579	4.24;4.24	1.26	-0.063	0.13778	Krueppel-associated box (4);	.	.	.	.	T	0.06826	0.0174	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.64042	0.921	T	0.38824	-0.9643	8	0.34782	T	0.22	.	4.6601	0.12637	0.5676:0.4323:0.0:0.0	.	23	Q8IYB9	ZN595_HUMAN	H	23	ENSP00000434858:P23H;ENSP00000437878:P23H	ENSP00000434858:P23H	P	+	2	0	ZNF595	49387	0.000000	0.05858	0.007000	0.13788	0.018000	0.09664	-0.502000	0.06390	0.655000	0.30866	0.484000	0.47621	CCT		0.423	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524	
MTHFD2L	441024	broad.mit.edu	37	4	75065528	75065528	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr4:75065528A>G	ENST00000395759.2	+	4	496	c.469A>G	c.(469-471)Aca>Gca	p.T157A	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.T99A|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.T99A|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.T22A	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	157					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TGATGAGCGAACAATATGCAA	0.328																																						uc011cbk.2																			0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8						c.(469-471)Aca>Gca		Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.							70.0	73.0	72.0					4																	75065528		2203	4300	6503	SO:0001583	missense	441024				folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	g.chr4:75065528A>G	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.469A>G	4.37:g.75065528A>G	ENSP00000379108:p.Thr157Ala					MTHFD2L_uc011cbj.2_Missense_Mutation_p.T99A|MTHFD2L_uc003hhn.1_Missense_Mutation_p.T99A	p.T157A	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		3	496	+			99					Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	c.469A>G	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	A	1.230	-0.624333	0.03636	.	.	ENSG00000163738	ENST00000433372;ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T;T	0.27557	1.66;2.07;1.68;1.66;2.08	5.2	4.02	0.46733	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.200985	0.46145	N	0.000311	T	0.15435	0.0372	N	0.13140	0.3	0.34265	D	0.680382	B;B	0.13594	0.008;0.003	B;B	0.20384	0.029;0.011	T	0.19289	-1.0310	10	0.15952	T	0.53	.	6.6643	0.23032	0.8192:0.0:0.1808:0.0	.	157;99	Q9H903;Q9H903-3	MTD2L_HUMAN;.	A	22;157;99;99;99	ENSP00000405692:T22A;ENSP00000379108:T157A;ENSP00000330982:T99A;ENSP00000352012:T99A;ENSP00000321984:T99A	ENSP00000321984:T99A	T	+	1	0	MTHFD2L	75284392	0.929000	0.31497	0.953000	0.39169	0.047000	0.14425	2.191000	0.42640	0.994000	0.38892	0.533000	0.62120	ACA		0.328	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346	
CDKN2AIP	55602	broad.mit.edu	37	4	184367366	184367366	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr4:184367366A>G	ENST00000504169.1	+	3	736	c.529A>G	c.(529-531)Acg>Gcg	p.T177A	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	177	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAACAGTTCAACGTGTATAGG	0.473																																						uc003ivp.1																			0		p.T177T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(529-531)Acg>Gcg		Homo sapiens CDKN2A interacting protein (CDKN2AIP), mRNA.							93.0	92.0	92.0					4																	184367366		2203	4300	6503	SO:0001583	missense	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367366A>G	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.529A>G	4.37:g.184367366A>G	ENSP00000427108:p.Thr177Ala					CDKN2AIP_uc003ivq.1_5'UTR	p.T177A	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	691	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	177			Ser-rich.		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	37	c.529A>G	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	A	1.865	-0.461793	0.04508	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.25	-10.5	0.00291	.	1.498860	0.03770	N	0.259612	T	0.23572	0.0570	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38735	-0.9647	9	0.07644	T	0.81	7.4866	14.3923	0.66989	0.6535:0.1314:0.2151:0.0	.	177	Q9NXV6	CARF_HUMAN	A	177	.	ENSP00000427108:T177A	T	+	1	0	CDKN2AIP	184604360	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.746000	0.00795	-4.044000	0.00079	-2.267000	0.00277	ACG		0.473	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632	
TAF7	6879	broad.mit.edu	37	5	140698719	140698719	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr5:140698719C>A	ENST00000313368.5	-	1	1611	c.893G>T	c.(892-894)aGg>aTg	p.R298M		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	298					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTTTTGCCCTGTCCTGGGT	0.453																																						uc003ljg.3																			0		p.D297H(2)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(892-894)aGg>aTg		Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.							158.0	142.0	148.0					5																	140698719		2203	4300	6503	SO:0001583	missense	6879				negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	g.chr5:140698719C>A	AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"""	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.893G>T	5.37:g.140698719C>A	ENSP00000312709:p.Arg298Met						p.R298M	NM_005642	NP_005633	Q15545	TAF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1633	-			298					B2RBV9|Q13036	Missense_Mutation	SNP	ENST00000313368.5	37	c.893G>T	CCDS4259.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804227	0.70682	.	.	ENSG00000178913	ENST00000313368	T	0.24538	1.85	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	M	0.68952	2.095	0.58432	D	0.999997	D	0.71674	0.998	P	0.60173	0.87	T	0.34601	-0.9822	10	0.44086	T	0.13	-17.1014	14.6781	0.68996	0.0:1.0:0.0:0.0	.	298	Q15545	TAF7_HUMAN	M	298	ENSP00000312709:R298M	ENSP00000312709:R298M	R	-	2	0	TAF7	140678903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.341000	0.65964	2.392000	0.81423	0.655000	0.94253	AGG		0.453	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251823.2	NM_005642	
CCNG1	900	broad.mit.edu	37	5	162868235	162868235	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr5:162868235A>G	ENST00000340828.2	+	3	640	c.416A>G	c.(415-417)aAg>aGg	p.K139R	CCNG1_ENST00000510664.1_Missense_Mutation_p.K11R|CCNG1_ENST00000393929.1_Missense_Mutation_p.K139R|CCNG1_ENST00000511683.2_Missense_Mutation_p.K5R|AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000504553.1_Missense_Mutation_p.K5R|CCNG1_ENST00000512163.1_Missense_Mutation_p.K5R	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	139					brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		AGAATGGAAAAGATTGTATTG	0.378																																						uc003lzb.3																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(415-417)aAg>aGg		Homo sapiens cyclin G1 (CCNG1), transcript variant 2, mRNA.							125.0	121.0	122.0					5																	162868235		2203	4300	6503	SO:0001583	missense	900				cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		g.chr5:162868235A>G	D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.416A>G	5.37:g.162868235A>G	ENSP00000344635:p.Lys139Arg					CCNG1_uc011dek.1_Missense_Mutation_p.K3R|CCNG1_uc011del.2_Missense_Mutation_p.K3R|CCNG1_uc003lzc.3_Non-coding_Transcript	p.K139R	NM_199246	NP_954854	P51959	CCNG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)	2	650	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	139					B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Missense_Mutation	SNP	ENST00000340828.2	37	c.416A>G	CCDS4360.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187019	0.78789	.	.	ENSG00000113328	ENST00000512163;ENST00000393929;ENST00000340828;ENST00000511683;ENST00000510664;ENST00000504553	T;T;T;T;T;T	0.32753	1.53;2.84;2.84;1.53;1.93;1.44	5.23	5.23	0.72850	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	L	0.43757	1.38	0.54753	D	0.999988	B	0.29136	0.234	B	0.30029	0.11	T	0.05435	-1.0885	10	0.30078	T	0.28	-1.6368	11.7536	0.51862	0.8529:0.1471:0.0:0.0	.	139	P51959	CCNG1_HUMAN	R	5;139;139;5;11;5	ENSP00000424315:K5R;ENSP00000377506:K139R;ENSP00000344635:K139R;ENSP00000424141:K5R;ENSP00000422379:K11R;ENSP00000427086:K5R	ENSP00000344635:K139R	K	+	2	0	CCNG1	162800813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.688000	0.68227	1.979000	0.57680	0.533000	0.62120	AAG		0.378	CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252750.3	NM_004060	
OR2J3	442186	broad.mit.edu	37	6	29080438	29080438	+	Silent	SNP	G	G	A	rs556178725	byFrequency	TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:29080438G>A	ENST00000377169.1	+	1	771	c.771G>A	c.(769-771)ccG>ccA	p.P257P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTTTCATTCCGGCCATGTGCA	0.458													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21499	0.0		0.0	False		,,,				2504	0.001					uc011dll.2																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(769-771)ccG>ccA		Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.							112.0	112.0	112.0					6																	29080438		1246	2560	3806	SO:0001819	synonymous_variant	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080438G>A		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.771G>A	6.37:g.29080438G>A							p.P257P	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			0	771	+			257					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Silent	SNP	ENST00000377169.1	37	c.771G>A	CCDS43433.1																																																																																				0.458	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2		
DNAH8	1769	broad.mit.edu	37	6	38783392	38783392	+	Missense_Mutation	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:38783392T>C	ENST00000359357.3	+	24	3085	c.2831T>C	c.(2830-2832)gTg>gCg	p.V944A	DNAH8_ENST00000441566.1_Missense_Mutation_p.V944A|DNAH8_ENST00000449981.2_Missense_Mutation_p.V1161A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	944					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTACTGACGTGACCCATCAA	0.448																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3481-3483)gTg>gCg		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							80.0	66.0	71.0					6																	38783392		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38783392T>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2831T>C	6.37:g.38783392T>C	ENSP00000352312:p.Val944Ala					DNAH8_uc003ooe.2_Missense_Mutation_p.V944A	p.V1161A	NM_001206927	NP_001193856					25	3591	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3482T>C		.	.	.	.	.	.	.	.	.	.	T	3.872	-0.027627	0.07589	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.24350	1.9;1.89;1.86	5.01	-4.4	0.03600	.	2.459610	0.02175	N	0.060021	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16958	-1.0385	10	0.06891	T	0.86	.	0.4927	0.00566	0.3511:0.2119:0.2608:0.1763	.	944	Q96JB1	DYH8_HUMAN	A	1149;1149;944;944	ENSP00000333363:V1149A;ENSP00000352312:V944A;ENSP00000402294:V944A	ENSP00000333363:V1149A	V	+	2	0	DNAH8	38891370	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.116000	0.10724	-0.574000	0.05990	-0.323000	0.08544	GTG		0.448	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
CD2AP	23607	broad.mit.edu	37	6	47512403	47512403	+	Silent	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:47512403G>A	ENST00000359314.5	+	4	837	c.381G>A	c.(379-381)ctG>ctA	p.L127L		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	127	Interaction with ANLN and localization to the midbody.|SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGGATGAACTGGAGCTGAAAG	0.313																																						uc003oyw.3																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(379-381)ctG>ctA		Homo sapiens CD2-associated protein (CD2AP), mRNA.							108.0	109.0	109.0					6																	47512403		2203	4296	6499	SO:0001819	synonymous_variant	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47512403G>A	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.381G>A	6.37:g.47512403G>A							p.L127L	NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		3	837	+			127			Interaction with ANLN and localization to the midbody.|SH3 2.		A6NL34|Q5VYA3|Q9UG97	Silent	SNP	ENST00000359314.5	37	c.381G>A	CCDS34472.1																																																																																				0.313	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2		
MB21D1	115004	broad.mit.edu	37	6	74149963	74149963	+	Silent	SNP	G	G	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:74149963G>T	ENST00000370315.3	-	3	1177	c.1083C>A	c.(1081-1083)ccC>ccA	p.P361P	MB21D1_ENST00000370318.1_Silent_p.P361P	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	361					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						TTGCATGCTTGGGTACAAGGT	0.383																																						uc003pgx.1																			0				central_nervous_system(1)|large_intestine(4)|lung(1)	6						c.(1081-1083)ccC>ccA		Homo sapiens Mab-21 domain containing 1 (MB21D1), mRNA.							85.0	81.0	83.0					6																	74149963		2203	4300	6503	SO:0001819	synonymous_variant	115004							g.chr6:74149963G>T	BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1083C>A	6.37:g.74149963G>T							p.P361P	NM_138441	NP_612450	Q8N884	M21D1_HUMAN			2	1222	-			361					L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	ENST00000370315.3	37	c.1083C>A	CCDS4978.1																																																																																				0.383	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441	
LPA	4018	broad.mit.edu	37	6	160977190	160977190	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:160977190G>A	ENST00000316300.5	-	30	4884	c.4840C>T	c.(4840-4842)Cgg>Tgg	p.R1614W	LPA_ENST00000447678.1_Missense_Mutation_p.R1614W			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4122	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAGCACTGCCGGACCACAGGG	0.463																																						uc003qtl.3																			0		p.R1614Q(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4840-4842)Cgg>Tgg		Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	Aminocaproic Acid(DB00513)						105.0	108.0	107.0					6																	160977190		2161	4296	6457	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160977190G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4840C>T	6.37:g.160977190G>A	ENSP00000321334:p.Arg1614Trp						p.R1614W	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	30	4960	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4122			Kringle 15.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4840C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	9.733	1.162696	0.21538	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.63417	-0.04;-0.04	2.61	1.69	0.24217	Kringle (2);Kringle-like fold (1);	.	.	.	.	T	0.53126	0.1777	L	0.45137	1.4	0.20975	N	0.999814	D	0.89917	1.0	D	0.73380	0.98	T	0.37957	-0.9683	9	0.66056	D	0.02	.	4.9244	0.13885	0.1307:0.2236:0.6457:0.0	.	4122	P08519	APOA_HUMAN	W	1614	ENSP00000321334:R1614W;ENSP00000395608:R1614W	ENSP00000321334:R1614W	R	-	1	2	LPA	160897180	0.960000	0.32886	0.979000	0.43373	0.056000	0.15407	1.450000	0.35134	0.393000	0.25203	0.313000	0.20887	CGG		0.463	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
ZNF12	7559	broad.mit.edu	37	7	6737438	6737438	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:6737438G>A	ENST00000405858.1	-	3	561	c.20C>T	c.(19-21)cCa>cTa	p.P7L	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.P7L|ZNF12_ENST00000404360.1_5'UTR	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	7					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GAATGACACTGGCCCCTGAAA	0.493																																						uc003sqt.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(19-21)cCa>cTa		Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.							139.0	138.0	139.0					7																	6737438		2203	4300	6503	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6737438G>A	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.20C>T	7.37:g.6737438G>A	ENSP00000385939:p.Pro7Leu					ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Missense_Mutation_p.P7L	p.P7L	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	2	574	-		Ovarian(82;0.0776)	7					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.20C>T	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	.	13.41	2.227656	0.39399	.	.	ENSG00000164631	ENST00000405858;ENST00000342651;ENST00000399476;ENST00000394917	T;T;T	0.00717	5.79;5.79;5.79	3.66	3.66	0.41972	Krueppel-associated box (1);	0.422527	0.17667	N	0.166104	T	0.01189	0.0039	L	0.27944	0.81	0.25181	N	0.990203	P;P	0.51653	0.891;0.947	B;P	0.50352	0.439;0.638	T	0.63646	-0.6590	10	0.27082	T	0.32	.	13.6621	0.62374	0.0:0.0:1.0:0.0	.	7;7	P17014;P17014-5	ZNF12_HUMAN;.	L	7;7;65;7	ENSP00000385939:P7L;ENSP00000344745:P7L;ENSP00000378375:P7L	ENSP00000344745:P7L	P	-	2	0	ZNF12	6703963	0.438000	0.25602	0.400000	0.26346	0.970000	0.65996	3.376000	0.52417	2.355000	0.79922	0.563000	0.77884	CCA		0.493	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265	
POM121C	100101267	broad.mit.edu	37	7	75070792	75070792	+	Missense_Mutation	SNP	A	A	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:75070792A>T	ENST00000257665.5	-	2	708	c.709T>A	c.(709-711)Tcc>Acc	p.S237T	POM121C_ENST00000453279.2_5'UTR			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	237	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TTGCGAGGGGACAGCACAGCC	0.527																																						uc003udk.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14								Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.							55.0	45.0	48.0					7																	75070792		2201	4293	6494	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75070792A>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.709T>A	7.37:g.75070792A>T	ENSP00000257665:p.Ser237Thr					POM121C_uc003udl.1_Non-coding_Transcript|POM121C_uc010lde.1_Missense_Mutation_p.S237T		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN			3		-								O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37			.	.	.	.	.	.	.	.	.	.	A	10.58	1.389329	0.25118	.	.	ENSG00000135213	ENST00000257665	T	0.07444	3.19	4.05	4.05	0.47172	.	0.000000	0.38381	N	0.001712	T	0.14056	0.0340	.	.	.	0.25918	N	0.98314	.	.	.	.	.	.	T	0.02885	-1.1098	7	0.87932	D	0	.	10.6955	0.45896	1.0:0.0:0.0:0.0	.	.	.	.	T	237	ENSP00000257665:S237T	ENSP00000257665:S237T	S	-	1	0	POM121C	74908728	0.986000	0.35501	0.014000	0.15608	0.001000	0.01503	2.979000	0.49313	1.621000	0.50320	0.413000	0.27773	TCC		0.527	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415	
TRRAP	8295	broad.mit.edu	37	7	98588209	98588209	+	Silent	SNP	G	G	A	rs557915803		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:98588209G>A	ENST00000359863.4	+	63	9944	c.9735G>A	c.(9733-9735)tcG>tcA	p.S3245S	TRRAP_ENST00000355540.3_Silent_p.S3216S|TRRAP_ENST00000446306.3_Silent_p.S3216S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3245	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTTGGCTCGGAGGGAAAGC	0.527																																						uc003upp.3																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(9733-9735)tcG>tcA		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.							75.0	58.0	64.0					7																	98588209		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98588209G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9735G>A	7.37:g.98588209G>A						TRRAP_uc011kis.2_Silent_p.S3216S|TRRAP_uc003upr.3_Silent_p.S2933S	p.S3245S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		62	9944	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3245			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.9735G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	3.519	-0.098096	0.07010	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.30417	0.0764	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54964	-0.8214	4	.	.	.	.	0.5558	0.00670	0.3015:0.1457:0.1871:0.3657	.	.	.	.	Q	2956	.	.	R	+	2	0	TRRAP	98426145	0.000000	0.05858	0.008000	0.14137	0.656000	0.38851	-4.996000	0.00162	-4.772000	0.00032	-1.827000	0.00596	CGG		0.527	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
PRSS3P2	154754	broad.mit.edu	37	7	142481807	142481807	+	RNA	SNP	C	C	T	rs4726591	byFrequency	TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:142481807C>T	ENST00000603901.1	+	0	486					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										AGTGCCTGGACGCTCCTGTGC	0.502													C|||	3794	0.757588	0.1513	0.9063	5008	,	,		10477	0.9901		0.9901	False		,,,				2504	0.9928					uc011ksq.2																			0											c.(484-486)gaC>gaT		Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																																						154754							g.chr7:142481807C>T			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481807C>T						TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron	p.D162D							3	569	+									Silent	SNP	ENST00000603901.1	37	c.486C>T																																																																																					0.502	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296	
RP1	6101	broad.mit.edu	37	8	55537403	55537403	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr8:55537403A>G	ENST00000220676.1	+	4	1109	c.961A>G	c.(961-963)Aaa>Gaa	p.K321E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	321					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGATATTGAGAAATCAATTAT	0.323																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(961-963)Aaa>Gaa		Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.							59.0	62.0	61.0					8																	55537403		2202	4299	6501	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537403A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.961A>G	8.37:g.55537403A>G	ENSP00000220676:p.Lys321Glu					RP1_uc011ldy.1_Intron	p.K321E	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		3	1109	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	321						Missense_Mutation	SNP	ENST00000220676.1	37	c.961A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011882	0.75046	.	.	ENSG00000104237	ENST00000220676	T	0.61627	0.09	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000008	T	0.77638	0.4160	M	0.82323	2.585	0.48395	D	0.99964	D	0.89917	1.0	D	0.87578	0.998	T	0.81810	-0.0762	10	0.87932	D	0	.	14.8752	0.70488	1.0:0.0:0.0:0.0	.	321	P56715	RP1_HUMAN	E	321	ENSP00000220676:K321E	ENSP00000220676:K321E	K	+	1	0	RP1	55699956	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.957000	0.93082	1.914000	0.55421	0.533000	0.62120	AAA		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
ARHGAP39	80728	broad.mit.edu	37	8	145758601	145758601	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr8:145758601G>A	ENST00000276826.5	-	7	2905	c.2704C>T	c.(2704-2706)Cgc>Tgc	p.R902C	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R902C|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R933C			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	902	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCGGGGTAGCGCTCTCTCTGC	0.647																																						uc003zds.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(2797-2799)Cgc>Tgc		Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.							80.0	73.0	75.0					8																	145758601		2202	4300	6502	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145758601G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2704C>T	8.37:g.145758601G>A	ENSP00000276826:p.Arg902Cys					ARHGAP39_uc011llk.1_Missense_Mutation_p.R902C|ARHGAP39_uc003zdt.1_Missense_Mutation_p.R902C	p.R933C	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			9	3352	-			902			Rho-GAP.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2797C>T		.	.	.	.	.	.	.	.	.	.	G	22.4	4.283487	0.80803	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.70516	-0.49;-0.22;-0.49	4.94	4.94	0.65067	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.323778	0.30068	N	0.010483	D	0.85080	0.5615	M	0.88570	2.965	0.51482	D	0.999922	D;D	0.89917	1.0;1.0	D;D	0.85130	0.976;0.997	D	0.86578	0.1852	10	0.54805	T	0.06	-31.942	11.8579	0.52449	0.0:0.177:0.823:0.0	.	902;933	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	C	902;933;902	ENSP00000276826:R902C;ENSP00000366522:R933C;ENSP00000445075:R902C	ENSP00000276826:R902C	R	-	1	0	ARHGAP39	145729409	0.001000	0.12720	1.000000	0.80357	0.807000	0.45602	0.932000	0.28884	2.448000	0.82819	0.563000	0.77884	CGC		0.647	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1		
AAED1	195827	broad.mit.edu	37	9	99413984	99413984	+	Missense_Mutation	SNP	A	A	G	rs374719525		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr9:99413984A>G	ENST00000375234.3	-	3	271	c.272T>C	c.(271-273)gTc>gCc	p.V91A	AAED1_ENST00000464512.1_5'UTR	NM_153698.1	NP_714542.1	Q7RTV5	AAED1_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	91																	TATAAGGGTGACATTTGCTTC	0.313																																						uc004awm.3																			0											c.(271-273)gTc>gCc		Homo sapiens chromosome 9 open reading frame 21 (C9orf21), mRNA.		A	ALA/VAL	0,4406		0,0,2203	80.0	86.0	84.0		272	4.4	1.0	9		84	1,8593	1.2+/-3.3	0,1,4296	no	missense	C9orf21	NM_153698.1	64	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	91/227	99413984	1,12999	2203	4297	6500	SO:0001583	missense	195827						antioxidant activity|oxidoreductase activity	g.chr9:99413984A>G	BK000255	CCDS35073.1	9q22.32	2013-01-07	2012-03-06	2012-03-06	ENSG00000158122	ENSG00000158122			16881	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 21"""	C9orf21			Standard	XM_005251783		Approved		uc004awm.3	Q7RTV5	OTTHUMG00000020299	ENST00000375234.3:c.272T>C	9.37:g.99413984A>G	ENSP00000364382:p.Val91Ala						p.V91A	NM_153698	NP_714542	Q7RTV5	CI021_HUMAN			2	308	-			91					B2RMW4|Q5JU02	Missense_Mutation	SNP	ENST00000375234.3	37	c.272T>C	CCDS35073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.65|16.65	3.183320|3.183320	0.57800|0.57800	0.0|0.0	1.16E-4|1.16E-4	ENSG00000158122|ENSG00000158122	ENST00000411939|ENST00000375234;ENST00000375233	.|T	.|0.51071	.|0.72	4.42|4.42	4.42|4.42	0.53409|0.53409	.|Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (2);	.|0.216139	.|0.39687	.|N	.|0.001298	T|T	0.62208|0.62208	0.2409|0.2409	M|M	0.81497|0.81497	2.545|2.545	0.45318|0.45318	D|D	0.998316|0.998316	.|P	.|0.52316	.|0.952	.|P	.|0.56343	.|0.796	T|T	0.67304|0.67304	-0.5704|-0.5704	5|10	.|0.72032	.|D	.|0.01	-7.574|-7.574	9.8|9.8	0.40759|0.40759	0.8274:0.1726:0.0:0.0|0.8274:0.1726:0.0:0.0	.|.	.|91	.|Q7RTV5	.|CI021_HUMAN	P|A	19|91	.|ENSP00000364382:V91A	.|ENSP00000364381:V91A	S|V	-|-	1|2	0|0	C9orf21|C9orf21	98453805|98453805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	6.975000|6.975000	0.76128|0.76128	1.990000|1.990000	0.58119|0.58119	0.533000|0.533000	0.62120|0.62120	TCA|GTC		0.313	AAED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053273.1	NM_153698	
OBP2A	29991	broad.mit.edu	37	9	138438640	138438640	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr9:138438640A>G	ENST00000539850.1	+	2	115	c.89A>G	c.(88-90)tAc>tGc	p.Y30C	OBP2A_ENST00000371776.1_Missense_Mutation_p.Y30C|OBP2A_ENST00000340780.3_Missense_Mutation_p.Y30C|OBP2A_ENST00000342114.4_Intron			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	30					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GGGACCTGGTACGTGAAGGCC	0.607																																						uc004cgc.3																			0		p.Y30Y(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(88-90)tAc>tGc		Homo sapiens odorant binding protein 2A (OBP2A), mRNA.							15.0	17.0	16.0					9																	138438640		2196	4274	6470	SO:0001583	missense	29991				response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:138438640A>G	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.89A>G	9.37:g.138438640A>G	ENSP00000441028:p.Tyr30Cys					OBP2A_uc004cgb.3_Missense_Mutation_p.Y30C|OBP2A_uc010nau.3_Non-coding_Transcript|OBP2A_uc010nav.3_Intron	p.Y30C			Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	1	131	+			30					Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	ENST00000539850.1	37	c.89A>G	CCDS6992.1	.	.	.	.	.	.	.	.	.	.	a	12.14	1.847123	0.32606	.	.	ENSG00000122136	ENST00000340780;ENST00000371776;ENST00000539850	T;T;T	0.22743	1.94;2.33;2.33	2.37	2.37	0.29283	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.381192	0.19305	N	0.117540	T	0.43765	0.1262	M	0.83118	2.625	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.995	T	0.11542	-1.0583	10	0.87932	D	0	-48.1387	6.6981	0.23211	1.0:0.0:0.0:0.0	.	30;30	Q5T8A5;Q9NY56	.;OBP2A_HUMAN	C	30	ENSP00000342097:Y30C;ENSP00000360841:Y30C;ENSP00000441028:Y30C	ENSP00000342097:Y30C	Y	+	2	0	OBP2A	137578461	0.212000	0.23540	0.188000	0.23233	0.028000	0.11728	0.493000	0.22451	1.334000	0.45468	0.450000	0.29827	TAC		0.607	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582	
KIAA2022	340533	broad.mit.edu	37	X	73959989	73959989	+	Missense_Mutation	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:73959989T>C	ENST00000055682.6	-	3	5014	c.4403A>G	c.(4402-4404)gAg>gGg	p.E1468G		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1468					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.E1468G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTGTTCTCGCTCCATGTGCTT	0.473																																						uc004eby.3																			1	Substitution - Missense(1)	p.E1468G(2)	ovary(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(4402-4404)gAg>gGg		Homo sapiens KIAA2022 (KIAA2022), mRNA.							209.0	164.0	179.0					X																	73959989		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73959989T>C		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4403A>G	X.37:g.73959989T>C	ENSP00000055682:p.Glu1468Gly						p.E1468G	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			2	5020	-			1468					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.4403A>G	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.769015	0.69992	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.39997	1.05;1.05	5.36	5.36	0.76844	.	0.154190	0.56097	D	0.000022	T	0.43055	0.1230	L	0.29908	0.895	0.52099	D	0.999942	D	0.53312	0.959	P	0.50659	0.647	T	0.44112	-0.9349	10	0.87932	D	0	-10.3741	14.4375	0.67293	0.0:0.0:0.0:1.0	.	1468	Q5QGS0	K2022_HUMAN	G	1468	ENSP00000362567:E1468G;ENSP00000055682:E1468G	ENSP00000055682:E1468G	E	-	2	0	KIAA2022	73876714	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.698000	0.84413	1.789000	0.52484	0.441000	0.28932	GAG		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
ATRX	546	broad.mit.edu	37	X	76937111	76937111	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:76937111delG	ENST00000373344.5	-	9	3851	c.3637delC	c.(3637-3639)cagfs	p.Q1213fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q1175fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1213	Interaction with DAXX.				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						ATAGAATTCTGATCATCATCT	0.388			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				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.(3637-3639)cagfs		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						158.0	133.0	142.0					X																	76937111		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:76937111delG	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.3637delC	X.37:g.76937111delG	ENSP00000362441:p.Gln1213fs					ATRX_uc004ecq.4_Frame_Shift_Del_p.Q1175fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Q998fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.Q1145fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.Q1184fs|ATRX_uc010nly.1_Frame_Shift_Del_p.Q1158fs	p.Q1213fs	NM_000489	NP_000480	P46100	ATRX_HUMAN			8	3869	-			1213					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3637delC	CCDS14434.1																																																																																				0.388	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
DIAPH2	1730	broad.mit.edu	37	X	96638984	96638984	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:96638984C>T	ENST00000324765.8	+	25	3433	c.3086C>T	c.(3085-3087)gCt>gTt	p.A1029V	DIAPH2_ENST00000355827.4_Missense_Mutation_p.A1029V|DIAPH2_ENST00000373049.4_Missense_Mutation_p.A1029V|DIAPH2_ENST00000373061.3_Missense_Mutation_p.A1029V|DIAPH2_ENST00000373054.4_Missense_Mutation_p.A1025V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1029					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AAAGAGAAAGCTGAACAAGAA	0.313																																						uc004efu.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(3085-3087)gCt>gTt		Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.							66.0	59.0	61.0					X																	96638984		2203	4299	6502	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96638984C>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.3086C>T	X.37:g.96638984C>T	ENSP00000321348:p.Ala1029Val					DIAPH2_uc004eft.4_Missense_Mutation_p.A1029V	p.A1029V	NM_006729	NP_006720	O60879	DIAP2_HUMAN			24	3482	+			1029					A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.3086C>T	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885258	0.72410	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.52	4.52	0.55395	Actin-binding FH2/DRF autoregulatory (1);	0.000000	0.64402	D	0.000001	T	0.67031	0.2850	M	0.83223	2.63	0.48395	D	0.999648	D;D	0.71674	0.986;0.998	P;D	0.71870	0.876;0.975	T	0.73943	-0.3823	10	0.72032	D	0.01	.	16.6994	0.85344	0.0:1.0:0.0:0.0	.	1029;1029	O60879;O60879-2	DIAP2_HUMAN;.	V	1029;1025;1029;1029;1029;1036	ENSP00000362152:A1029V;ENSP00000362145:A1025V;ENSP00000348082:A1029V;ENSP00000362140:A1029V;ENSP00000321348:A1029V	ENSP00000321348:A1029V	A	+	2	0	DIAPH2	96525640	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.449000	0.60034	2.204000	0.70986	0.544000	0.68410	GCT		0.313	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309	
VAMP7	6845	broad.mit.edu	37	X	155149532	155149532	+	Missense_Mutation	SNP	T	T	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:155149532T>G	ENST00000286448.6	+	6	654	c.489T>G	c.(487-489)aaT>aaG	p.N163K	VAMP7_ENST00000262640.6_Intron|VAMP7_ENST00000460621.1_Missense_Mutation_p.N122K|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	163	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAACAGAAAATCTTGTGGATT	0.338																																						uc004fnr.3																			0				large_intestine(1)|lung(8)	9						c.(487-489)aaT>aaG		Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.							115.0	125.0	122.0					X																	155149532		2203	4296	6499	SO:0001583	missense	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155149532T>G	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.489T>G	X.37:g.155149532T>G	ENSP00000286448:p.Asn163Lys					VAMP7_uc011naa.2_Missense_Mutation_p.N124K|VAMP7_uc011nab.2_Missense_Mutation_p.N62K|VAMP7_uc004fnt.3_Missense_Mutation_p.N122K|VAMP7_uc004fns.3_Intron|VAMP7_uc011nac.2_Missense_Mutation_p.N96K	p.N163K	NM_005638	NP_005629	P51809	VAMP7_HUMAN			5	667	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		163			v-SNARE coiled-coil homology.		Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	ENST00000286448.6	37	c.489T>G	CCDS14770.4	.	.	.	.	.	.	.	.	.	.	T	8.476	0.858587	0.17178	.	.	ENSG00000124333	ENST00000286448;ENST00000460621	T;T	0.42900	0.96;0.96	3.05	0.206	0.15208	Synaptobrevin (3);	.	.	.	.	T	0.37517	0.1006	.	.	.	0.09310	N	1	P;B;B;B	0.44344	0.833;0.036;0.348;0.273	P;B;B;B	0.49387	0.609;0.043;0.191;0.16	T	0.22591	-1.0212	8	0.25751	T	0.34	.	6.1313	0.20207	0.0:0.509:0.0:0.491	.	96;124;122;163	B4DE96;B4DIH9;P51809-3;P51809	.;.;.;VAMP7_HUMAN	K	163;122	ENSP00000286448:N163K;ENSP00000427822:N122K	ENSP00000286448:N163K	N	+	3	2	VAMP7	154802726	1.000000	0.71417	0.958000	0.39756	0.715000	0.41141	0.532000	0.23067	-0.036000	0.13669	0.235000	0.17854	AAT		0.338	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638	
