#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
FERMT3	83706	hgsc.bcm.edu;broad.mit.edu	37	11	63988497	63988497	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr11:63988497C>T	ENST00000279227.5	+	13	1662	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	FERMT3_ENST00000345728.5_Missense_Mutation_p.R519W	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	523	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCTCACCCCACGGATCCTGGA	0.652																																																0													96.0	83.0	87.0					11																	63988497		2201	4297	6498	SO:0001583	missense	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1567C>T	11.37:g.63988497C>T	ENSP00000279227:p.Arg523Trp		Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022146	0.54576	.	.	ENSG00000149781	ENST00000345728;ENST00000279227	D;D	0.81739	-1.53;-1.53	4.29	1.16	0.20824	Band 4.1 domain (1);FERM central domain (2);	0.000000	0.85682	D	0.000000	D	0.87740	0.6253	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.87375	0.2353	10	0.87932	D	0	-41.2461	12.8765	0.57994	0.3055:0.6945:0.0:0.0	.	519;523	Q86UX7-2;Q86UX7	.;URP2_HUMAN	W	519;523	ENSP00000339950:R519W;ENSP00000279227:R523W	ENSP00000279227:R523W	R	+	1	2	FERMT3	63745073	0.959000	0.32827	0.466000	0.27168	0.472000	0.32918	2.235000	0.43044	0.134000	0.18681	0.462000	0.41574	CGG		0.652	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		8	128	8	128
EXPH5	23086	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	108381318	108381318	+	Missense_Mutation	SNP	C	C	T	rs201764835		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr11:108381318C>T	ENST00000265843.4	-	6	5026	c.4916G>A	c.(4915-4917)tGc>tAc	p.C1639Y	EXPH5_ENST00000428840.1_Missense_Mutation_p.C1563Y|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Missense_Mutation_p.C1632Y|EXPH5_ENST00000443411.1_Missense_Mutation_p.C1451Y	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1639					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CAGTGGGTTGCACTCCACTGT	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		21386	0.0		0.001	False		,,,				2504	0.0															0													124.0	121.0	122.0					11																	108381318		2201	4298	6499	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4916G>A	11.37:g.108381318C>T	ENSP00000265843:p.Cys1639Tyr		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.66	1.412910	0.25465	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.02974	4.31;4.24;4.09;4.31;4.16	5.73	-1.35	0.09114	.	1.320570	0.04579	N	0.394680	T	0.03348	0.0097	M	0.63428	1.95	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.49457	-0.8938	10	0.11485	T	0.65	1.6068	2.369	0.04326	0.1479:0.4044:0.094:0.3537	.	1639	Q8NEV8	EXPH5_HUMAN	Y	1639;1563;1451;1632;1563	ENSP00000265843:C1639Y;ENSP00000391966:C1563Y;ENSP00000411390:C1451Y;ENSP00000432546:C1632Y;ENSP00000432683:C1563Y	ENSP00000265843:C1639Y	C	-	2	0	EXPH5	107886528	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.639000	0.05446	0.062000	0.16340	0.650000	0.86243	TGC		0.483	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		56	47	56	47
LRIG3	121227	hgsc.bcm.edu;broad.mit.edu	37	12	59276787	59276787	+	Silent	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr12:59276787G>A	ENST00000320743.3	-	12	1630	c.1344C>T	c.(1342-1344)tgC>tgT	p.C448C	LRIG3_ENST00000379141.4_Silent_p.C388C	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	448	LRRCT.				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)			GCTGGCAATCGCACAAAAGGC	0.403			T	ROS1	NSCLC																																		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													65.0	63.0	64.0					12																	59276787		2203	4300	6503	SO:0001819	synonymous_variant	121227			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.1344C>T	12.37:g.59276787G>A			Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	CCDS8960.1																																																																																				0.403	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		4	70	4	70
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7574012	7574012	+	Nonsense_Mutation	SNP	C	C	A	rs17882252	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:7574012C>A	ENST00000269305.4	-	10	1204	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E339*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron	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	339	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252). {ECO:0000269|Ref.12}.|E -> Q (in a sporadic cancer; 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.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(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)	CGGAACATCTCGAAGCGCTCA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	31	Substitution - Nonsense(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)	upper_aerodigestive_tract(5)|breast(5)|liver(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|pancreas(2)|stomach(1)|oesophagus(1)|ovary(1)	GRCh37	CM984588	TP53	M	rs17882252						59.0	46.0	51.0					17																	7574012		2203	4300	6503	SO:0001587	stop_gained	7157	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;	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.1015G>T	17.37:g.7574012C>A	ENSP00000269305:p.Glu339*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.547605	0.96488	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	4.44	0.53790	.	0.053822	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-17.4901	10.1064	0.42535	0.0:0.8944:0.0:0.1056	.	.	.	.	X	339;339;328	.	ENSP00000269305:E339X	E	-	1	0	TP53	7514737	0.991000	0.36638	0.794000	0.32065	0.424000	0.31475	2.924000	0.48876	1.194000	0.43101	0.561000	0.74099	GAG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	55	12	55
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:7579311C>T	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	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						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGGCAACTGACCGTGCAAGTC	0.532		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(1)	GRCh37	CS951538	TP53	S							66.0	61.0	63.0					17																	7579311		2203	4300	6503	SO:0001630	splice_region_variant	7157	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;	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.375+1G>A	17.37:g.7579311C>T			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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015182	0.75161	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6586	0.68852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520036	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.208000	0.72165	2.403000	0.81681	0.655000	0.94253	.		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	56	67	56	67
CWC25	54883	hgsc.bcm.edu;broad.mit.edu	37	17	36958970	36958970	+	Silent	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:36958970C>T	ENST00000225428.5	-	9	1443	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	PIP4K2B_ENST00000269554.3_5'Flank|CWC25_ENST00000536127.1_Silent_p.R319R	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	382										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ACTTCCCATCCCGGGAGTCCA	0.547																																																0													144.0	147.0	146.0					17																	36958970		1979	4159	6138	SO:0001819	synonymous_variant	54883			AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.1146G>A	17.37:g.36958970C>T			A0JLM3|Q68DK5	Silent	SNP	ENST00000225428.5	37	CCDS45663.1																																																																																				0.547	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		9	114	9	114
ERCC1	2067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	45916941	45916941	+	Silent	SNP	A	A	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:45916941A>T	ENST00000300853.3	-	9	1428	c.837T>A	c.(835-837)ccT>ccA	p.P279P	ERCC1_ENST00000588738.1_5'UTR|ERCC1_ENST00000423698.2_Silent_p.P207P|ERCC1_ENST00000013807.5_Silent_p.P279P|ERCC1_ENST00000589165.1_Silent_p.P279P|ERCC1_ENST00000340192.7_Silent_p.P255P|ERCC1_ENST00000591636.1_Intron	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	279	HhH2, dimerization with ERCC4.				cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		TTACTTTCTGAGGGCCCAGGC	0.522								Nucleotide excision repair (NER)																																								0													99.0	104.0	102.0					19																	45916941		2203	4300	6503	SO:0001819	synonymous_variant	2067				CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.837T>A	19.37:g.45916941A>T			B2RC01|B3KRR0|Q7Z7F5|Q96S40	Silent	SNP	ENST00000300853.3	37	CCDS12662.1																																																																																				0.522	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		13	131	13	131
DNAJC6	9829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	65858364	65858364	+	Silent	SNP	T	T	G			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:65858364T>G	ENST00000395325.3	+	12	1705	c.1548T>G	c.(1546-1548)gcT>gcG	p.A516A	DNAJC6_ENST00000263441.7_Silent_p.A503A|DNAJC6_ENST00000371069.4_Silent_p.A573A	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	516	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CGCCAGCGGCTCCTCCCACCA	0.582																																																0													46.0	45.0	45.0					1																	65858364		2203	4300	6503	SO:0001819	synonymous_variant	9829			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1548T>G	1.37:g.65858364T>G			B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	CCDS30739.1																																																																																				0.582	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			7	56	7	56
CFAP61	26074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	20123549	20123549	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr20:20123549A>T	ENST00000245957.5	+	9	984	c.908A>T	c.(907-909)gAg>gTg	p.E303V	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.E303V|C20orf26_ENST00000377306.1_Missense_Mutation_p.E303V|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		303										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATAGTCGAGGAGTTGCAGGAA	0.488																																																0													48.0	40.0	43.0					20																	20123549		2203	4299	6502	SO:0001583	missense	0																														ENST00000245957.5:c.908A>T	20.37:g.20123549A>T	ENSP00000245957:p.Glu303Val		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803080	0.31869	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767;ENST00000442372;ENST00000377297	T;T;T	0.08193	3.12;3.12;3.12	4.26	3.14	0.36123	.	0.790091	0.11839	N	0.524499	T	0.08537	0.0212	L	0.53249	1.67	0.39362	D	0.965947	P;B;B;B	0.38078	0.617;0.239;0.418;0.253	B;B;B;B	0.33799	0.11;0.048;0.076;0.17	T	0.24476	-1.0159	10	0.33141	T	0.24	.	7.8717	0.29569	0.7893:0.2107:0.0:0.0	.	303;303;258;303	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	V	258;303;303;303;303;303;62;95	ENSP00000245957:E303V;ENSP00000366521:E303V;ENSP00000414537:E303V	ENSP00000245957:E303V	E	+	2	0	C20orf26	20071549	0.826000	0.29277	0.519000	0.27824	0.097000	0.18754	1.408000	0.34668	0.941000	0.37499	0.533000	0.62120	GAG		0.488	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			6	19	6	19
ADSL	158	hgsc.bcm.edu;broad.mit.edu	37	22	40762494	40762494	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr22:40762494G>A	ENST00000216194.7	+	13	1479	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	ADSL_ENST00000454266.2_Missense_Mutation_p.V489M|ADSL_ENST00000342312.6_Missense_Mutation_p.V416M	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	475					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ATATGAAAGCGTGATGAAGGT	0.358																																					Colon(4;65 130 1097 1516)											0													128.0	121.0	123.0					22																	40762494		2203	4300	6503	SO:0001583	missense	158			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.1423G>A	22.37:g.40762494G>A	ENSP00000216194:p.Val475Met		B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478565	0.44044	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	D;D;D	0.96011	-3.88;-3.87;-3.61	5.47	3.29	0.37713	.	0.291585	0.36234	N	0.002719	D	0.88926	0.6570	L	0.28556	0.865	0.09310	N	0.999993	B;B;B;B	0.20459	0.045;0.036;0.001;0.001	B;B;B;B	0.14578	0.011;0.006;0.001;0.001	T	0.76937	-0.2774	10	0.30078	T	0.28	-5.8136	4.4035	0.11399	0.2563:0.1848:0.559:0.0	.	489;416;475;475	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	M	475;489;295;416	ENSP00000216194:V475M;ENSP00000390107:V489M;ENSP00000341429:V416M	ENSP00000216194:V475M	V	+	1	0	ADSL	39092440	1.000000	0.71417	0.666000	0.29783	0.892000	0.51952	3.110000	0.50352	1.547000	0.49401	0.655000	0.94253	GTG		0.358	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		5	55	5	55
MYO3B	140469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	171509614	171509614	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:171509614T>C	ENST00000408978.4	+	35	4152	c.4009T>C	c.(4009-4011)Tct>Cct	p.S1337P	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.S1310P|MYO3B_ENST00000334231.6_Missense_Mutation_p.S1346P|AC007277.3_ENST00000428156.1_RNA	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1337					peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAAAGGAGACTCTTTTGCTCA	0.418																																																0													139.0	134.0	135.0					2																	171509614		1869	4103	5972	SO:0001583	missense	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.4009T>C	2.37:g.171509614T>C	ENSP00000386213:p.Ser1337Pro		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	4.750	0.139526	0.09083	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000334231	T;T;T	0.78816	-1.21;-1.16;-1.17	5.53	1.21	0.21127	.	1.513960	0.04239	N	0.336569	T	0.65407	0.2688	N	0.22421	0.69	0.20563	N	0.999884	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.49113	-0.8973	10	0.30854	T	0.27	.	7.5917	0.28025	0.0:0.1492:0.1215:0.7293	.	1310;1337	Q8WXR4-4;Q8WXR4	.;MYO3B_HUMAN	P	1310;1337;1346	ENSP00000386497:S1310P;ENSP00000386213:S1337P;ENSP00000335100:S1346P	ENSP00000335100:S1346P	S	+	1	0	MYO3B	171217860	0.996000	0.38824	0.026000	0.17262	0.044000	0.14063	0.822000	0.27352	0.334000	0.23590	0.374000	0.22700	TCT		0.418	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			8	71	8	71
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	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)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				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		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	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			34	64	34	64
RPL37A	6168	hgsc.bcm.edu;broad.mit.edu	37	2	217364056	217364056	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:217364056C>T	ENST00000491306.1	+	2	753	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	RPL37A_ENST00000600880.1_Missense_Mutation_p.R23W|RPL37A_ENST00000446558.1_Missense_Mutation_p.R23W|AC098820.3_ENST00000453157.1_RNA|RPL37A_ENST00000441179.2_5'UTR|RPL37A_ENST00000598925.1_5'UTR|AC098820.3_ENST00000438978.1_RNA|RPL37A_ENST00000427280.2_5'UTR|RPL37A_ENST00000456586.1_5'UTR	NM_000998.4	NP_000989.1	P61513	RL37A_HUMAN	ribosomal protein L37a	23					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|ovary(1)	2		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCTCCCTCCGGAAAATGGT	0.502																																																0													52.0	57.0	56.0					2																	217364056		2203	4300	6503	SO:0001583	missense	6168				CCDS2404.1	2q35	2011-04-06			ENSG00000197756	ENSG00000197756		"""L ribosomal proteins"""	10348	protein-coding gene	gene with protein product		613314				1437567	Standard	NM_000998		Approved	L37A	uc002vgf.3	P61513	OTTHUMG00000133052	ENST00000491306.1:c.67C>T	2.37:g.217364056C>T	ENSP00000418082:p.Arg23Trp		P12751|Q6FGF5	Missense_Mutation	SNP	ENST00000491306.1	37	CCDS2404.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354961	0.61293	.	.	ENSG00000197756	ENST00000491306;ENST00000446558	.	.	.	5.1	1.72	0.24424	Ribosomal protein L37ae/L37e, N-terminal (1);Ribosomal protein, zinc-binding domain (1);	0.000000	0.53938	U	0.000047	T	0.57636	0.2067	.	.	.	0.80722	D	1	B;B	0.27932	0.194;0.008	B;B	0.33890	0.172;0.007	T	0.55405	-0.8146	8	0.52906	T	0.07	.	12.9871	0.58598	0.3979:0.6021:0.0:0.0	.	23;23	Q6P4E4;P61513	.;RL37A_HUMAN	W	23	.	ENSP00000410080:R23W	R	+	1	2	RPL37A	217072301	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.084000	0.50143	0.075000	0.16796	0.655000	0.94253	CGG		0.502	RPL37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256665.2	NM_000998		8	86	8	86
COL6A3	1293	hgsc.bcm.edu;broad.mit.edu	37	2	238277572	238277572	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:238277572A>G	ENST00000295550.4	-	10	4986	c.4534T>C	c.(4534-4536)Tcc>Ccc	p.S1512P	COL6A3_ENST00000472056.1_Missense_Mutation_p.S905P|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1312P|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1311P|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1306P|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1306P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1512	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCAGTGGGGACCCCCCTCTG	0.562																																																0													47.0	48.0	48.0					2																	238277572		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4534T>C	2.37:g.238277572A>G	ENSP00000295550:p.Ser1512Pro		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	6.865	0.528991	0.13127	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.36	-0.222	0.13122	von Willebrand factor, type A (3);	0.119880	0.38164	N	0.001798	D	0.83156	0.5193	L	0.45470	1.425	0.09310	N	1	D;D;B	0.69078	0.997;0.989;0.099	D;D;B	0.70227	0.968;0.923;0.055	T	0.72453	-0.4289	10	0.36615	T	0.2	.	5.3916	0.16247	0.3472:0.472:0.0664:0.1144	.	905;1306;1512	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	P	1512;1311;1306;905;1306;1312	ENSP00000295550:S1512P;ENSP00000315609:S1311P;ENSP00000315873:S1306P;ENSP00000418285:S905P;ENSP00000386844:S1306P;ENSP00000295546:S1312P	ENSP00000295550:S1512P	S	-	1	0	COL6A3	237942311	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	0.038000	0.13862	-0.267000	0.09325	-0.313000	0.08912	TCC		0.562	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		5	59	5	59
BRD8	10902	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	137501597	137501597	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr5:137501597T>C	ENST00000254900.5	-	11	1569	c.1198A>G	c.(1198-1200)Atg>Gtg	p.M400V	BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000455658.2_Missense_Mutation_p.M359V|BRD8_ENST00000411594.2_Missense_Mutation_p.M403V|BRD8_ENST00000230901.5_Missense_Mutation_p.M473V|BRD8_ENST00000402931.1_Missense_Mutation_p.M400V	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	400					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCAATATCCATCTTCTCAGCC	0.458																																																0													160.0	155.0	157.0					5																	137501597		2203	4300	6503	SO:0001583	missense	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.1198A>G	5.37:g.137501597T>C	ENSP00000254900:p.Met400Val		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.845033	0.71603	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000511898	T;T;T;T;T;T;T	0.32272	1.86;1.46;1.46;1.61;1.62;1.46;1.62	5.65	5.65	0.86999	.	0.114259	0.64402	D	0.000003	T	0.40372	0.1114	N	0.24115	0.695	0.50813	D	0.99989	P;D;D;P;P;P;D;D	0.61080	0.894;0.989;0.986;0.842;0.679;0.955;0.979;0.971	P;D;D;B;P;P;P;P	0.69654	0.702;0.958;0.965;0.318;0.65;0.64;0.725;0.666	T	0.16100	-1.0414	10	0.35671	T	0.21	-12.2342	15.2098	0.73214	0.0:0.0:0.0:1.0	.	359;384;179;473;403;294;473;400	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.;.;.;.;.;.;.;BRD8_HUMAN	V	400;429;398;473;400;403;294;359;19	ENSP00000254900:M400V;ENSP00000398067:M429V;ENSP00000398873:M398V;ENSP00000230901:M473V;ENSP00000384845:M400V;ENSP00000394330:M403V;ENSP00000408396:M359V	ENSP00000230901:M473V	M	-	1	0	BRD8	137529496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.829000	0.75314	2.371000	0.80710	0.533000	0.62120	ATG		0.458	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		9	60	9	60
CD109	135228	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	74491008	74491008	+	Silent	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:74491008T>C	ENST00000287097.5	+	17	2041	c.1929T>C	c.(1927-1929)gaT>gaC	p.D643D	CD109_ENST00000422508.2_Silent_p.D566D|CD109_ENST00000437994.2_Silent_p.D643D			Q6YHK3	CD109_HUMAN	CD109 molecule	643	Bait region (approximate). {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATTGACAGATGCAAACCTCA	0.323																																																0													165.0	156.0	159.0					6																	74491008		2203	4300	6503	SO:0001819	synonymous_variant	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1929T>C	6.37:g.74491008T>C			A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	CCDS4982.1																																																																																				0.323	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		6	46	6	46
MDN1	23195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	90397120	90397120	+	Missense_Mutation	SNP	C	C	T	rs370169447		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:90397120C>T	ENST00000369393.3	-	68	11508	c.11393G>A	c.(11392-11394)cGg>cAg	p.R3798Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R3798Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3798					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGATGTTTCCGCAAAGACAA	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		19871	0.0		0.0	False		,,,				2504	0.001															0								C	GLN/ARG	0,4406		0,0,2203	108.0	96.0	100.0		11393	6.1	1.0	6		100	2,8598	2.2+/-6.3	0,2,4298	no	missense	MDN1	NM_014611.1	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	3798/5597	90397120	2,13004	2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11393G>A	6.37:g.90397120C>T	ENSP00000358400:p.Arg3798Gln		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403758	0.83230	0.0	2.33E-4	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03094	4.05;4.05	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.10465	0.0256	M	0.78916	2.43	0.54753	D	0.999988	D	0.89917	1.0	D	0.63957	0.92	T	0.33240	-0.9876	10	0.13470	T	0.59	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	3798	Q9NU22	MDN1_HUMAN	Q	3798	ENSP00000358400:R3798Q;ENSP00000413970:R3798Q	ENSP00000358400:R3798Q	R	-	2	0	MDN1	90453841	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	6.051000	0.71072	2.885000	0.99019	0.655000	0.94253	CGG		0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			13	66	13	66
FBXL18	80028	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	5540405	5540405	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr7:5540405T>C	ENST00000382368.3	-	3	1618	c.1495A>G	c.(1495-1497)Atg>Gtg	p.M499V	FBXL18_ENST00000453700.3_Missense_Mutation_p.M499V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	499									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TTGCGGGGCATGGCGGAGGAG	0.672																																																0													13.0	17.0	16.0					7																	5540405		2111	4217	6328	SO:0001583	missense	80028			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1495A>G	7.37:g.5540405T>C	ENSP00000371805:p.Met499Val		Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.70|14.70	2.614267|2.614267	0.46631|0.46631	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000297035|ENST00000382368;ENST00000312577;ENST00000453700	.|T;T	.|0.40756	.|1.02;1.02	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.039558	.|0.85682	.|D	.|0.000000	T|T	0.38665|0.38665	0.1049|0.1049	L|L	0.29908|0.29908	0.895|0.895	0.45554|0.45554	D|D	0.998509|0.998509	.|P;P	.|0.46859	.|0.885;0.794	.|P;B	.|0.45753	.|0.492;0.406	T|T	0.32214|0.32214	-0.9915|-0.9915	6|10	0.87932|0.62326	D|D	0|0.03	.|.	14.6933|14.6933	0.69101|0.69101	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|499;499	.|F5H4Z4;Q96ME1-4	.|.;.	R|V	58|499	.|ENSP00000371805:M499V;ENSP00000444797:M499V	ENSP00000297035:H58R|ENSP00000311990:M499V	H|M	-|-	2|1	0|0	FBXL18|FBXL18	5506931|5506931	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	4.737000|4.737000	0.62066|0.62066	2.140000|2.140000	0.66376|0.66376	0.477000|0.477000	0.44152|0.44152	CAT|ATG		0.672	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		19	88	19	88
CNTLN	54875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	17236520	17236520	+	Silent	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr9:17236520G>A	ENST00000380647.3	+	5	867	c.783G>A	c.(781-783)ctG>ctA	p.L261L	CNTLN_ENST00000262360.5_Silent_p.L261L|CNTLN_ENST00000425824.1_Silent_p.L261L|CNTLN_ENST00000380641.4_Silent_p.L261L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	261					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TAAATGACCTGGAGAAATTGA	0.368																																																0													102.0	102.0	102.0					9																	17236520		1840	4089	5929	SO:0001819	synonymous_variant	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.783G>A	9.37:g.17236520G>A			A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	CCDS43789.1																																																																																				0.368	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		11	49	11	49
VSIG4	11326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	65253475	65253475	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:65253475G>A	ENST00000374737.4	-	2	361	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	VSIG4_ENST00000455586.2_Missense_Mutation_p.R85C|VSIG4_ENST00000412866.2_Missense_Mutation_p.R85C	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	85	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACATGCAGGCGGCCCTGGTAC	0.547																																																0													121.0	102.0	108.0					X																	65253475		2203	4300	6503	SO:0001583	missense	11326			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.253C>T	X.37:g.65253475G>A	ENSP00000363869:p.Arg85Cys		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.43|11.43	1.637215|1.637215	0.29157|0.29157	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000427538|ENST00000374737;ENST00000455586;ENST00000412866	.|T;T;T	.|0.10477	.|2.87;2.87;2.87	4.93|4.93	3.17|3.17	0.36434|0.36434	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.104783	.|0.42964	.|N	.|0.000622	T|T	0.30166|0.30166	0.0756|0.0756	M|M	0.81341|0.81341	2.54|2.54	0.47245|0.47245	D|D	0.999365|0.999365	.|P;D;D;D;D	.|0.89917	.|0.932;1.0;1.0;0.968;1.0	.|B;D;D;P;D	.|0.97110	.|0.362;1.0;0.999;0.482;1.0	T|T	0.01068|0.01068	-1.1462|-1.1462	5|10	.|0.87932	.|D	.|0	-4.4728|-4.4728	7.0986|7.0986	0.25323|0.25323	0.2124:0.0:0.7876:0.0|0.2124:0.0:0.7876:0.0	.|.	.|85;85;75;85;85	.|C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.|.;.;.;.;VSIG4_HUMAN	L|C	11|85	.|ENSP00000363869:R85C;ENSP00000411581:R85C;ENSP00000394143:R85C	.|ENSP00000363869:R85C	P|R	-|-	2|1	0|0	VSIG4|VSIG4	65170200|65170200	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.007000|0.007000	0.05969|0.05969	1.436000|1.436000	0.34980|0.34980	0.344000|0.344000	0.23847|0.23847	-0.896000|-0.896000	0.02909|0.02909	CCG|CGC		0.547	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		19	75	19	75
UNC93A	54346	broad.mit.edu;ucsc.edu	37	6	167728856	167728856	+	Silent	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:167728856C>T	ENST00000230256.3	+	8	1465	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	UNC93A_ENST00000366829.2_Silent_p.C388C	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	430						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTGTGGAGTGCGTGGAGTCCA	0.542																																																0													221.0	238.0	232.0					6																	167728856		2203	4300	6503	SO:0001819	synonymous_variant	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1290C>T	6.37:g.167728856C>T			B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	ENST00000230256.3	37	CCDS5300.1																																																																																				0.542	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		30	360	30	360
IGFBP2	3485	broad.mit.edu;ucsc.edu	37	2	217525369	217525369	+	Missense_Mutation	SNP	C	C	T	rs200421058		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:217525369C>T	ENST00000233809.4	+	2	661	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	IGFBP2_ENST00000456764.1_Missense_Mutation_p.R34W	NM_000597.2	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	178					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of activated T cell proliferation (GO:0042104)|regulation of cell growth (GO:0001558)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CAGTGCTGGCCGGAAGCCCCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17418	0.001		0.0	False		,,,				2504	0.0															0													27.0	33.0	31.0					2																	217525369		2039	4181	6220	SO:0001583	missense	3485				CCDS42815.1	2q35	2014-09-16	2002-08-29		ENSG00000115457	ENSG00000115457			5471	protein-coding gene	gene with protein product		146731	"""insulin-like growth factor binding protein 2 (36kD)"""	IBP2		1697583	Standard	NM_000597		Approved		uc021vwn.1	P18065	OTTHUMG00000155341	ENST00000233809.4:c.532C>T	2.37:g.217525369C>T	ENSP00000233809:p.Arg178Trp		Q14619|Q9UCL3	Missense_Mutation	SNP	ENST00000233809.4	37	CCDS42815.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	16.47	3.131132	0.56828	.	.	ENSG00000115457	ENST00000434997;ENST00000233809;ENST00000456764	T;T	0.15017	3.13;2.46	4.42	2.52	0.30459	.	0.744100	0.12885	N	0.431111	T	0.30293	0.0760	L	0.38175	1.15	0.47778	D	0.999519	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.973	T	0.01520	-1.1334	10	0.66056	D	0.02	-18.7483	10.57	0.45194	0.5814:0.4186:0.0:0.0	.	212;178	Q59FF1;P18065	.;IBP2_HUMAN	W	12;178;34	ENSP00000233809:R178W;ENSP00000389646:R34W	ENSP00000233809:R178W	R	+	1	2	IGFBP2	217233614	0.989000	0.36119	0.962000	0.40283	0.801000	0.45260	1.251000	0.32862	0.413000	0.25759	0.655000	0.94253	CGG		0.612	IGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339540.1	NM_000597		11	63	11	63
HIVEP2	3097	broad.mit.edu;ucsc.edu	37	6	143095693	143095693	+	Silent	SNP	T	T	C			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:143095693T>C	ENST00000367604.1	-	4	822	c.183A>G	c.(181-183)gcA>gcG	p.A61A	HIVEP2_ENST00000012134.2_Silent_p.A61A|HIVEP2_ENST00000367603.2_Silent_p.A61A			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	61					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CAAACAGTTGTGCTGATGCTG	0.498																																					Esophageal Squamous(107;843 1510 13293 16805 42198)											0													194.0	201.0	199.0					6																	143095693		2096	4238	6334	SO:0001819	synonymous_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.183A>G	6.37:g.143095693T>C			Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	CCDS43510.1																																																																																				0.498	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			29	207	29	207
FLRT2	23768	broad.mit.edu;ucsc.edu	37	14	86089274	86089274	+	Silent	SNP	C	C	T	rs146568257	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr14:86089274C>T	ENST00000330753.4	+	2	2183	c.1416C>T	c.(1414-1416)agC>agT	p.S472S	FLRT2_ENST00000554746.1_Silent_p.S472S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	472	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCATAGTCAGCGGTGAGAAGC	0.517													c|||	14	0.00279553	0.0	0.0086	5008	,	,		17661	0.0		0.008	False		,,,				2504	0.0															0								T		4,4402	8.1+/-20.4	0,4,2199	136.0	117.0	123.0		1416	-7.4	0.5	14	dbSNP_134	123	34,8566	22.8+/-68.1	0,34,4266	no	coding-synonymous	FLRT2	NM_013231.4		0,38,6465	TT,TC,CC		0.3953,0.0908,0.2922		472/661	86089274	38,12968	2203	4300	6503	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1416C>T	14.37:g.86089274C>T			A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			45	96	45	96
MUC16	94025	broad.mit.edu;ucsc.edu	37	19	8987333	8987333	+	Splice_Site	SNP	G	G	A			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:8987333G>A	ENST00000397910.4	-	68	41957	c.41754C>T	c.(41752-41754)acC>acT	p.T13918T	MUC16_ENST00000380951.5_Splice_Site_p.T559T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13943				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T13918T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACCACCCCGGCTAGGGCAG	0.597																																																1	Substitution - coding silent(1)	endometrium(1)											75.0	70.0	72.0					19																	8987333		2096	4236	6332	SO:0001630	splice_region_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41753-1C>T	19.37:g.8987333G>A			Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	1.934	-0.445200	0.04604	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.45	-1.76	0.08006	.	.	.	.	.	T	0.39036	0.1063	.	.	.	.	.	.	.	.	.	.	.	.	T	0.47983	-0.9074	3	.	.	.	.	8.1489	0.31128	0.4404:0.0:0.5596:0.0	.	.	.	.	L	758	.	.	P	-	2	0	MUC16	8848333	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.704000	0.05058	-0.438000	0.07232	-0.384000	0.06662	CCG		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Silent	14	112	14	112
TNFRSF9	3604	broad.mit.edu;ucsc.edu	37	1	7998823	7998823	+	Missense_Mutation	SNP	C	C	T	rs9657963	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:7998823C>T	ENST00000377507.3	-	3	332	c.166G>A	c.(166-168)Gca>Aca	p.A56T		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	56			A -> T (in dbSNP:rs9657963). {ECO:0000269|Ref.5}.		apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCACCTGCGCTGGAGAAA	0.408													C|||	8	0.00159744	0.0	0.0043	5008	,	,		18680	0.0		0.003	False		,,,				2504	0.002															0								C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	184.0	180.0	182.0		166	3.1	0.0	1	dbSNP_119	182	37,8563	25.1+/-72.6	0,37,4263	yes	missense	TNFRSF9	NM_001561.5	58	0,39,6464	TT,TC,CC		0.4302,0.0454,0.2999	benign	56/256	7998823	39,12967	2203	4300	6503	SO:0001583	missense	3604			L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.166G>A	1.37:g.7998823C>T	ENSP00000366729:p.Ala56Thr			Missense_Mutation	SNP	ENST00000377507.3	37	CCDS92.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	0.012	-1.663242	0.00772	4.54E-4	0.004302	ENSG00000049249	ENST00000377507	T	0.06142	3.34	5.39	3.06	0.35304	TNFR/CD27/30/40/95 cysteine-rich region (3);	1.492440	0.04145	N	0.320357	T	0.02929	0.0087	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42447	-0.9451	10	0.17832	T	0.49	1.4177	6.1629	0.20373	0.0:0.2271:0.0:0.7729	rs9657963;rs9657963	56	Q07011	TNR9_HUMAN	T	56	ENSP00000366729:A56T	ENSP00000366729:A56T	A	-	1	0	TNFRSF9	7921410	0.439000	0.25610	0.034000	0.17996	0.005000	0.04900	1.359000	0.34113	0.441000	0.26529	-0.471000	0.05019	GCA		0.408	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1			17	157	17	157
ADAMTS9	56999	broad.mit.edu;ucsc.edu	37	3	64526873	64526873	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr3:64526873C>T	ENST00000498707.1	-	36	5761	c.5419G>A	c.(5419-5421)Ggg>Agg	p.G1807R	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G1779R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1807	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CGCCGGCTCCCGTTATAGGGA	0.473																																																0													75.0	79.0	78.0					3																	64526873		2203	4300	6503	SO:0001583	missense	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5419G>A	3.37:g.64526873C>T	ENSP00000418735:p.Gly1807Arg		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157319	0.78114	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.20738	2.05;2.05	5.73	5.73	0.89815	Peptidase M12B, GON-ADAMTSs (2);	0.059630	0.64402	D	0.000003	T	0.55545	0.1927	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61417	-0.7067	10	0.87932	D	0	.	19.9036	0.96999	0.0:1.0:0.0:0.0	.	1779;1807	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	R	1779;1807	ENSP00000295903:G1779R;ENSP00000418735:G1807R	ENSP00000295903:G1779R	G	-	1	0	ADAMTS9	64501913	1.000000	0.71417	0.981000	0.43875	0.439000	0.31926	5.305000	0.65750	2.706000	0.92434	0.655000	0.94253	GGG		0.473	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			23	120	23	120
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76890105	76890106	+	Frame_Shift_Ins	INS	-	-	CATA			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:76890105_76890106insCATA	ENST00000373344.5	-	17	5002_5003	c.4788_4789insTATG	c.(4786-4791)atgggcfs	p.MG1596fs	ATRX_ENST00000480283.1_De_novo_Start_InFrame|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.MG1558fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1596	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						TTACCAAGGCCCATACAGTGGG	0.371			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	546			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.4785_4788dupTATG	X.37:g.76890106_76890109dupCATA	ENSP00000362441:p.Met1596fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	CCDS14434.1																																																																																				0.371	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		16	61	16	61
TCF12	6938	broad.mit.edu	37	15	57565437	57565438	+	Frame_Shift_Ins	INS	-	-	TTGAC			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr15:57565437_57565438insTTGAC	ENST00000267811.5	+	18	2187_2188	c.1883_1884insTTGAC	c.(1882-1887)cttagtfs	p.S629fs	TCF12_ENST00000452095.2_Frame_Shift_Ins_p.S649fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.S629fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.S459fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.S653fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.S483fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.S393fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.S653fs|TCF12_ENST00000559703.1_Frame_Shift_Ins_p.S286fs|TCF12_ENST00000559710.1_Frame_Shift_Ins_p.S263fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	629	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCAGTCATCCTTAGTCTAGAAC	0.441			T	TEC	extraskeletal myxoid chondrosarcoma																																		Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	0																																										SO:0001589	frameshift_variant	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	Exception_encountered	15.37:g.57565437_57565438insTTGAC	ENSP00000267811:p.Ser629fs		Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Ins	INS	ENST00000267811.5	37	CCDS10159.1																																																																																				0.441	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		9	51	9	51
ATRX	546	broad.mit.edu	37	X	76938654	76938655	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:76938654_76938655insT	ENST00000373344.5	-	9	2307_2308	c.2093_2094insA	c.(2092-2094)aagfs	p.K698fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K660fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	698					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						TACGCTTATCCTTTTTTCTCAC	0.356			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	546			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.2094dupA	X.37:g.76938660_76938660dupT	ENSP00000362441:p.Lys698fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	CCDS14434.1																																																																																				0.356	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		9	64	9	64
ATRX	546	broad.mit.edu	37	X	76845302	76845302	+	Splice_Site	SNP	A	A	G			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:76845302A>G	ENST00000373344.5	-	27	6432		c.e27+1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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						TTTGTAGCTCACCTTTATAAA	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											46.0	45.0	45.0					X																	76845302		2203	4292	6495	SO:0001630	splice_region_variant	546			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.6217+1T>C	X.37:g.76845302A>G			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.231469	0.79688	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9752	0.64268	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76731958	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	8.817000	0.91985	1.762000	0.52044	0.425000	0.28330	.		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	3	8	3	8
