#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
OR4C16	219428	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	55339961	55339961	+	Missense_Mutation	SNP	C	C	T	rs201401810		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:55339961C>T	ENST00000314634.3	+	1	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GGCTGTTGACCGCTATGTGGA	0.517													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19529	0.0		0.0	False		,,,				2504	0.0															0													193.0	184.0	187.0					11																	55339961		2201	4296	6497	SO:0001583	missense	219428			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.358C>T	11.37:g.55339961C>T	ENSP00000324913:p.Arg120Cys		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682286	0.47991	.	.	ENSG00000181935	ENST00000314634	T	0.77358	-1.09	4.98	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.76891	0.4051	M	0.78285	2.405	0.43255	D	0.995185	B	0.23058	0.079	B	0.21546	0.035	T	0.76575	-0.2909	10	0.72032	D	0.01	.	11.2485	0.49010	0.0:0.9107:0.0:0.0893	.	120	Q8NGL9	OR4CG_HUMAN	C	120	ENSP00000324913:R120C	ENSP00000324913:R120C	R	+	1	0	OR4C16	55096537	0.990000	0.36364	0.999000	0.59377	0.955000	0.61496	3.648000	0.54410	1.333000	0.45449	0.549000	0.68633	CGC		0.517	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		106	138	106	138
OR4D6	219983	hgsc.bcm.edu;broad.mit.edu	37	11	59224594	59224594	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:59224594G>A	ENST00000300127.2	+	1	184	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R54H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGTGAGTCCCGCCTACACACT	0.458																																																1	Substitution - Missense(1)	lung(1)											156.0	133.0	141.0					11																	59224594		2201	4295	6496	SO:0001583	missense	219983			AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.161G>A	11.37:g.59224594G>A	ENSP00000300127:p.Arg54His		B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	0.492	-0.874879	0.02550	.	.	ENSG00000166884	ENST00000300127	T	0.01139	5.28	6.0	-1.7	0.08159	GPCR, rhodopsin-like superfamily (1);	0.233058	0.30235	N	0.010095	T	0.00845	0.0028	N	0.20530	0.585	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48115	-0.9063	10	0.12430	T	0.62	-0.5658	12.7298	0.57191	0.4874:0.0:0.5126:0.0	.	54	Q8NGJ1	OR4D6_HUMAN	H	54	ENSP00000300127:R54H	ENSP00000300127:R54H	R	+	2	0	OR4D6	58981170	0.000000	0.05858	0.007000	0.13788	0.072000	0.16883	-2.041000	0.01415	-0.424000	0.07382	-0.827000	0.03088	CGC		0.458	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		7	115	7	115
ZPR1	8882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	116657243	116657243	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:116657243T>C	ENST00000227322.3	-	4	538	c.479A>G	c.(478-480)gAc>gGc	p.D160G		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		160					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TGCAGGCTGGTCCTGCTCCAG	0.478																																																0													92.0	80.0	84.0					11																	116657243		2201	4296	6497	SO:0001583	missense	8882																														ENST00000227322.3:c.479A>G	11.37:g.116657243T>C	ENSP00000227322:p.Asp160Gly		Q2TAA0	Missense_Mutation	SNP	ENST00000227322.3	37	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.415307|4.415307	0.83449|0.83449	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000227322|ENST00000444935	T|.	0.45668|.	0.89|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Zinc finger, ZPR1-type (3);|.	0.128592|.	0.64402|.	D|.	0.000001|.	T|T	0.60011|0.60011	0.2236|0.2236	L|L	0.41632|0.41632	1.29|1.29	0.80722|0.80722	D|D	1|1	P;P|.	0.40794|.	0.729;0.725|.	P;P|.	0.53102|.	0.718;0.658|.	T|T	0.56986|0.56986	-0.7888|-0.7888	10|5	0.48119|.	T|.	0.1|.	-30.0377|-30.0377	15.6027|15.6027	0.76636|0.76636	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	109;160|.	B4DVT8;O75312|.	.;ZPR1_HUMAN|.	G|A	160|160	ENSP00000227322:D160G|.	ENSP00000227322:D160G|.	D|T	-|-	2|1	0|0	ZNF259|ZNF259	116162453|116162453	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.980000|6.980000	0.76160|0.76160	2.142000|2.142000	0.66516|0.66516	0.459000|0.459000	0.35465|0.35465	GAC|ACC		0.478	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			23	56	23	56
FKBP4	2288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	2910516	2910516	+	Silent	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:2910516G>A	ENST00000001008.4	+	9	1453	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	422					androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CTGAGGAGGAGAACAAGGTGA	0.557																																																0													61.0	66.0	64.0					12																	2910516		2203	4300	6503	SO:0001819	synonymous_variant	2288			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.1266G>A	12.37:g.2910516G>A			D3DUQ1|Q9UCP1|Q9UCV7	Silent	SNP	ENST00000001008.4	37	CCDS8512.1	.	.	.	.	.	.	.	.	.	.	G	7.204	0.594071	0.13875	.	.	ENSG00000004478	ENST00000539181	.	.	.	5.57	0.246	0.15516	.	.	.	.	.	T	0.42177	0.1191	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22452	-1.0216	4	.	.	.	-13.3303	1.8199	0.03109	0.3294:0.2434:0.3199:0.1073	.	.	.	.	K	58	.	.	R	+	2	0	FKBP4	2780777	0.001000	0.12720	0.705000	0.30386	0.961000	0.63080	-0.541000	0.06099	0.012000	0.14892	0.561000	0.74099	AGA		0.557	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			35	206	35	206
TESPA1	9840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	55356531	55356531	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:55356531G>A	ENST00000449076.1	-	9	1283	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L	TESPA1_ENST00000532804.1_Missense_Mutation_p.S246L|TESPA1_ENST00000524622.1_Missense_Mutation_p.S246L|TESPA1_ENST00000531122.1_Missense_Mutation_p.S246L|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000316577.8_Missense_Mutation_p.S384L	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	384					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.S246L(1)|p.S384L(1)									CTTGGGGTTCGAATCCAGAGT	0.507																																																2	Substitution - Missense(2)	prostate(2)											85.0	84.0	84.0					12																	55356531		2002	4176	6178	SO:0001583	missense	9840			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1151C>T	12.37:g.55356531G>A	ENSP00000400892:p.Ser384Leu		B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	G	0.137	-1.107012	0.01813	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	3.92	2.11	0.27256	.	0.612725	0.14756	N	0.300303	T	0.22205	0.0535	N	0.24115	0.695	0.19300	N	0.999975	P	0.35700	0.516	B	0.24974	0.057	T	0.09314	-1.0680	10	0.46703	T	0.11	0.0505	6.2833	0.21019	0.2236:0.0:0.7764:0.0	.	384	A2RU30	K0748_HUMAN	L	246;246;384;384;246	ENSP00000435622:S246L;ENSP00000432030:S246L;ENSP00000400892:S384L;ENSP00000312679:S384L;ENSP00000433098:S246L	ENSP00000312679:S384L	S	-	2	0	KIAA0748	53642798	0.062000	0.20869	0.414000	0.26521	0.019000	0.09904	0.254000	0.18314	0.633000	0.30452	-0.140000	0.14226	TCG		0.507	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		33	37	33	37
SLC39A9	55334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	69908908	69908908	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr14:69908908G>A	ENST00000336643.5	+	3	1006	c.328G>A	c.(328-330)Gtt>Att	p.V110I	SLC39A9_ENST00000556605.1_Missense_Mutation_p.V110I|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Missense_Mutation_p.V110I|SLC39A9_ENST00000031146.4_Intron	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	110					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CTATATTGGTGTTTCCCTCGT	0.483																																																0													389.0	320.0	343.0					14																	69908908		2203	4300	6503	SO:0001583	missense	55334				CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.328G>A	14.37:g.69908908G>A	ENSP00000336887:p.Val110Ile		G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210341	0.39003	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.62639	1.58;0.01;0.74	5.41	5.41	0.78517	.	0.054433	0.64402	D	0.000001	T	0.47173	0.1431	N	0.15975	0.35	0.58432	D	0.999998	B;B;B	0.12013	0.001;0.005;0.003	B;B;B	0.15052	0.012;0.011;0.011	T	0.36744	-0.9735	10	0.16420	T	0.52	-17.1673	19.561	0.95373	0.0:0.0:1.0:0.0	.	110;110;110	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	I	110	ENSP00000452385:V110I;ENSP00000336887:V110I;ENSP00000451833:V110I	ENSP00000031146:V110I	V	+	1	0	SLC39A9	68978661	1.000000	0.71417	0.999000	0.59377	0.888000	0.51559	7.230000	0.78097	2.696000	0.92011	0.655000	0.94253	GTT		0.483	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		31	205	31	205
LTK	4058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	41796600	41796600	+	Silent	SNP	G	G	A	rs556097894		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr15:41796600G>A	ENST00000263800.6	-	19	2382	c.2286C>T	c.(2284-2286)caC>caT	p.H762H	LTK_ENST00000561619.1_Silent_p.H460H|LTK_ENST00000453182.2_Silent_p.H632H|LTK_ENST00000355166.5_Silent_p.H701H	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	762	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCTCAGGCTCGTGCTGCCAAC	0.592										TSP Lung(18;0.14)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		18187	0.0		0.0	False		,,,				2504	0.0															0													80.0	70.0	73.0					15																	41796600		2203	4300	6503	SO:0001819	synonymous_variant	4058			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.2286C>T	15.37:g.41796600G>A			A6NNJ8|B4DL89|E9PFX4	Silent	SNP	ENST00000263800.6	37	CCDS10077.1																																																																																				0.592	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			7	71	7	71
SRRM2	23524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	2816330	2816330	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr16:2816330G>A	ENST00000301740.8	+	11	6350	c.5801G>A	c.(5800-5802)cGt>cAt	p.R1934H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1934	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACCCGCCGTCGTTCAAGGTCT	0.582																																																0													76.0	79.0	78.0					16																	2816330		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5801G>A	16.37:g.2816330G>A	ENSP00000301740:p.Arg1934His		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707022	0.30232	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.25579	1.79	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000020	T	0.29458	0.0734	N	0.08118	0	0.34950	D	0.751166	D	0.76494	0.999	P	0.62435	0.902	T	0.49781	-0.8903	10	0.72032	D	0.01	-7.8039	16.3084	0.82859	0.0:0.0:1.0:0.0	.	1934	Q9UQ35	SRRM2_HUMAN	H	1934;1934;1186	ENSP00000301740:R1934H	ENSP00000301740:R1934H	R	+	2	0	SRRM2	2756331	0.230000	0.23740	0.987000	0.45799	0.985000	0.73830	2.620000	0.46410	2.454000	0.82982	0.650000	0.86243	CGT		0.582	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			64	77	64	77
RTN4RL1	146760	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	1840572	1840572	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:1840572C>T	ENST00000331238.6	-	2	1023	c.544G>A	c.(544-546)Ggc>Agc	p.G182S		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGCTTGTTGCCGTGGAGAAAC	0.602																																					GBM(68;949 1139 14865 32798 38342)											0													37.0	43.0	41.0					17																	1840572		2036	4182	6218	SO:0001583	missense	146760			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.544G>A	17.37:g.1840572C>T	ENSP00000330631:p.Gly182Ser			Missense_Mutation	SNP	ENST00000331238.6	37	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775990	0.90195	.	.	ENSG00000185924	ENST00000331238	T	0.02525	4.26	5.72	5.72	0.89469	.	0.000000	0.40064	N	0.001189	T	0.08358	0.0208	L	0.31157	0.91	0.80722	D	1	D	0.63046	0.992	P	0.60236	0.871	T	0.28364	-1.0046	10	0.46703	T	0.11	.	19.5547	0.95338	0.0:1.0:0.0:0.0	.	182	Q86UN2	R4RL1_HUMAN	S	182	ENSP00000330631:G182S	ENSP00000330631:G182S	G	-	1	0	RTN4RL1	1787322	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	7.814000	0.86154	2.717000	0.92951	0.644000	0.83932	GGC		0.602	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		8	66	8	66
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	18	14	18
LRRC37A3	374819	hgsc.bcm.edu;broad.mit.edu	37	17	62856443	62856443	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:62856443T>C	ENST00000584306.1	-	11	4351	c.3821A>G	c.(3820-3822)gAc>gGc	p.D1274G	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.D1274G|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.D251G|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.D392G|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.D312G	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1274						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTGGGTTAAGTCTTTCCATCT	0.458																																																0													78.0	81.0	80.0					17																	62856443		2203	4297	6500	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3821A>G	17.37:g.62856443T>C	ENSP00000464535:p.Asp1274Gly		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.584544	0.28268	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.73469	0.73;0.73;-0.75	2.26	-0.14	0.13456	.	.	.	.	.	T	0.77082	0.4078	L	0.53249	1.67	0.09310	N	1	P;D	0.57571	0.512;0.98	B;D	0.68192	0.228;0.956	T	0.63301	-0.6668	9	0.66056	D	0.02	.	1.7073	0.02884	0.2882:0.1789:0.0:0.5329	.	392;1274	B4DG20;O60309	.;L37A3_HUMAN	G	355;312;251;1274	ENSP00000383674:D312G;ENSP00000335617:D251G;ENSP00000325713:D1274G	ENSP00000325713:D1274G	D	-	2	0	LRRC37A3	60286905	0.090000	0.21635	0.099000	0.21106	0.013000	0.08279	0.694000	0.25512	0.133000	0.18654	-1.987000	0.00451	GAC		0.458	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		22	186	22	186
USH1G	124590	hgsc.bcm.edu;broad.mit.edu	37	17	72916511	72916511	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:72916511G>C	ENST00000319642.1	-	2	602	c.420C>G	c.(418-420)ttC>ttG	p.F140L		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	140					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCGCCTCGCGGAAGGCCTTGT	0.672																																																0													82.0	60.0	67.0					17																	72916511		2203	4300	6503	SO:0001583	missense	124590			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.420C>G	17.37:g.72916511G>C	ENSP00000320076:p.Phe140Leu		Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297856	0.23650	.	.	ENSG00000182040	ENST00000319642	T	0.70282	-0.47	3.8	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	L	0.49350	1.555	0.58432	D	0.999998	B	0.24721	0.11	B	0.19148	0.024	T	0.52328	-0.8590	10	0.05525	T	0.97	-18.2349	11.8856	0.52600	0.0899:0.0:0.9101:0.0	.	140	Q495M9	USH1G_HUMAN	L	140	ENSP00000320076:F140L	ENSP00000320076:F140L	F	-	3	2	USH1G	70428106	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.630000	0.46494	2.118000	0.64928	0.313000	0.20887	TTC		0.672	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		4	72	4	72
CNDP1	84735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	72201914	72201914	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr18:72201914A>T	ENST00000358821.3	+	1	240	c.12A>T	c.(10-12)aaA>aaT	p.K4N	CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000582365.1_Missense_Mutation_p.K4N	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	4						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGGATCCCAAACTCGGGAGAA	0.537																																					Melanoma(32;1029 1042 25286 38395 44237)											0													101.0	91.0	94.0					18																	72201914		2203	4300	6503	SO:0001583	missense	84735				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.12A>T	18.37:g.72201914A>T	ENSP00000351682:p.Lys4Asn		Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	A	8.322	0.824601	0.16678	.	.	ENSG00000150656	ENST00000358821	T	0.15017	2.46	3.98	2.82	0.32997	.	2.345130	0.01753	N	0.030072	T	0.08626	0.0214	N	0.08118	0	0.19300	N	0.999977	P	0.37781	0.608	B	0.29598	0.104	T	0.23440	-1.0188	10	0.28530	T	0.3	.	5.9114	0.19031	0.8752:0.0:0.1248:0.0	.	4	Q96KN2	CNDP1_HUMAN	N	4	ENSP00000351682:K4N	ENSP00000351682:K4N	K	+	3	2	CNDP1	70352894	0.475000	0.25894	0.035000	0.18076	0.055000	0.15305	-0.257000	0.08745	0.439000	0.26476	0.528000	0.53228	AAA		0.537	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		13	39	13	39
MAST3	23031	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	18260436	18260436	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr19:18260436C>T	ENST00000262811.6	+	27	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1277							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TTCGATGAGCCGCAGGAGGAG	0.667																																																0													18.0	21.0	20.0					19																	18260436		2098	4216	6314	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.3830C>T	19.37:g.18260436C>T	ENSP00000262811:p.Pro1277Leu		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965291	0.34659	.	.	ENSG00000099308	ENST00000262811	T	0.70516	-0.49	4.56	3.28	0.37604	.	0.286267	0.32655	N	0.005808	T	0.57475	0.2056	L	0.32530	0.975	0.43368	D	0.995457	B	0.06786	0.001	B	0.04013	0.001	T	0.48736	-0.9009	10	0.25106	T	0.35	-8.5681	12.3184	0.54971	0.4035:0.5965:0.0:0.0	.	1277	O60307	MAST3_HUMAN	L	1277	ENSP00000262811:P1277L	ENSP00000262811:P1277L	P	+	2	0	MAST3	18121436	0.844000	0.29557	0.894000	0.35097	0.772000	0.43724	0.398000	0.20899	0.674000	0.31244	0.313000	0.20887	CCG		0.667	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		8	33	8	33
AHDC1	27245	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	27875777	27875777	+	Silent	SNP	C	C	T	rs151218177		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr1:27875777C>T	ENST00000247087.5	-	5	3446	c.2850G>A	c.(2848-2850)ccG>ccA	p.P950P	AHDC1_ENST00000374011.2_Silent_p.P950P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	950							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGCTGAGGGCGGGGGCACCA	0.672																																																0								C		1,4405	2.1+/-5.4	0,1,2202	48.0	58.0	54.0		2850	-10.5	0.0	1	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	AHDC1	NM_001029882.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		950/1604	27875777	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2850G>A	1.37:g.27875777C>T			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	CCDS30652.1																																																																																				0.672	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			60	65	60	65
YIPF1	54432	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	54331952	54331952	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr1:54331952C>G	ENST00000072644.1	-	9	1088	c.752G>C	c.(751-753)cGt>cCt	p.R251P	YIPF1_ENST00000371399.1_Missense_Mutation_p.R68P|YIPF1_ENST00000539954.1_Missense_Mutation_p.R276P|YIPF1_ENST00000469457.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	251						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.R251H(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GTTATCCTCACGAACAGCTGG	0.483																																																1	Substitution - Missense(1)	lung(1)											103.0	88.0	93.0					1																	54331952		2203	4300	6503	SO:0001583	missense	54432			BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.752G>C	1.37:g.54331952C>G	ENSP00000072644:p.Arg251Pro		B2RCM7|D3DQ40|Q9NWJ1	Missense_Mutation	SNP	ENST00000072644.1	37	CCDS584.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553366	0.86127	.	.	ENSG00000058799	ENST00000371399;ENST00000072644;ENST00000539954	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83105	0.5182	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83682	0.0172	9	0.56958	D	0.05	-28.9557	19.7096	0.96089	0.0:1.0:0.0:0.0	.	251	Q9Y548	YIPF1_HUMAN	P	68;251;276	.	ENSP00000072644:R251P	R	-	2	0	YIPF1	54104540	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	7.636000	0.83301	2.652000	0.90054	0.655000	0.94253	CGT		0.483	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5	NM_018982		44	69	44	69
DIDO1	11083	hgsc.bcm.edu;broad.mit.edu	37	20	61511961	61511961	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr20:61511961C>T	ENST00000266070.4	-	16	5672	c.5347G>A	c.(5347-5349)Gaa>Aaa	p.E1783K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1783K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1783	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATATTCTCTTCTGGAAACGGA	0.612																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0													63.0	76.0	72.0					20																	61511961		2203	4299	6502	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5347G>A	20.37:g.61511961C>T	ENSP00000266070:p.Glu1783Lys		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182345	0.38511	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.10288	2.89;2.89	5.02	5.02	0.67125	.	0.000000	0.44285	D	0.000462	T	0.15912	0.0383	M	0.63428	1.95	0.80722	D	1	P	0.43094	0.799	B	0.38562	0.276	T	0.02398	-1.1165	10	0.62326	D	0.03	-24.6877	18.3426	0.90311	0.0:1.0:0.0:0.0	.	1783	Q9BTC0	DIDO1_HUMAN	K	1783	ENSP00000266070:E1783K;ENSP00000378752:E1783K	ENSP00000266070:E1783K	E	-	1	0	DIDO1	60982406	1.000000	0.71417	0.131000	0.22000	0.051000	0.14879	4.266000	0.58871	2.301000	0.77427	0.555000	0.69702	GAA		0.612	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		17	209	17	209
USP16	10600	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	30419419	30419419	+	Silent	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr21:30419419T>C	ENST00000334352.4	+	15	2019	c.1788T>C	c.(1786-1788)aaT>aaC	p.N596N	USP16_ENST00000399975.3_Silent_p.N595N|USP16_ENST00000399976.2_Silent_p.N596N|USP16_ENST00000535828.1_Silent_p.N225N	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGATTCTGAATGATAGTCATA	0.378																																					Melanoma(92;625 1444 27493 34101 44971)											0													85.0	89.0	88.0					21																	30419419		2203	4300	6503	SO:0001819	synonymous_variant	10600			AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1788T>C	21.37:g.30419419T>C				Silent	SNP	ENST00000334352.4	37	CCDS13583.1																																																																																				0.378	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			25	135	25	135
REG1A	5967	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	79348733	79348733	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:79348733C>T	ENST00000233735.1	+	3	213	c.110C>T	c.(109-111)cCa>cTa	p.P37L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	37	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ATCAGCTGCCCAGAAGGCACC	0.527																																																0													177.0	180.0	179.0					2																	79348733		2203	4300	6503	SO:0001583	missense	5967				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.110C>T	2.37:g.79348733C>T	ENSP00000233735:p.Pro37Leu		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.980120	0.74474	.	.	ENSG00000115386	ENST00000233735	T	0.12255	2.7	2.85	1.96	0.26148	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.000000	0.38778	N	0.001568	T	0.36413	0.0966	M	0.88310	2.945	0.23082	N	0.998321	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.08617	-1.0713	10	0.87932	D	0	.	5.6612	0.17670	0.0:0.8448:0.0:0.1552	.	37;37	A8K7G6;P05451	.;REG1A_HUMAN	L	37	ENSP00000233735:P37L	ENSP00000233735:P37L	P	+	2	0	REG1A	79202241	0.084000	0.21492	0.211000	0.23655	0.897000	0.52465	1.630000	0.37081	0.750000	0.32877	0.563000	0.77884	CCA		0.527	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		63	281	63	281
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	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			49	64	49	64
PDHA2	5161	hgsc.bcm.edu;broad.mit.edu	37	4	96761529	96761529	+	Silent	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr4:96761529A>G	ENST00000295266.4	+	1	291	c.228A>G	c.(226-228)gcA>gcG	p.A76A		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	76					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AATTGAAGGCAGATCAGCTGT	0.537																																																0													106.0	91.0	96.0					4																	96761529		2203	4300	6503	SO:0001819	synonymous_variant	5161				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.228A>G	4.37:g.96761529A>G			B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	CCDS3644.1																																																																																				0.537	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			7	136	7	136
NEUROG2	63973	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	113436146	113436146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr4:113436146C>T	ENST00000313341.3	-	2	812	c.486G>A	c.(484-486)tgG>tgA	p.W162*	RP11-402J6.1_ENST00000506057.1_RNA|RP11-402J6.1_ENST00000504009.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	162	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CGGTGAGTGCCCAGATGTAGT	0.711																																																0													40.0	40.0	40.0					4																	113436146		2203	4300	6503	SO:0001587	stop_gained	63973			AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.486G>A	4.37:g.113436146C>T	ENSP00000317333:p.Trp162*		Q8N416	Nonsense_Mutation	SNP	ENST00000313341.3	37	CCDS3698.1	.	.	.	.	.	.	.	.	.	.	C	38	6.969561	0.97971	.	.	ENSG00000178403	ENST00000313341	.	.	.	3.76	3.76	0.43208	.	0.000000	0.45126	D	0.000399	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9758	13.1517	0.59492	0.0:1.0:0.0:0.0	.	.	.	.	X	162	.	ENSP00000317333:W162X	W	-	3	0	NEUROG2	113655595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.189000	0.77747	1.931000	0.55961	0.563000	0.77884	TGG		0.711	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		9	39	9	39
SPINK5	11005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	147484546	147484546	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr5:147484546A>G	ENST00000256084.7	+	16	1504	c.1462A>G	c.(1462-1464)Aaa>Gaa	p.K488E	SPINK5_ENST00000398454.1_Missense_Mutation_p.K488E|SPINK5_ENST00000359874.3_Missense_Mutation_p.K488E	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	488	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAAGGCTAAAAGAGAAGC	0.328																																																0													97.0	100.0	99.0					5																	147484546		1813	4088	5901	SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1462A>G	5.37:g.147484546A>G	ENSP00000256084:p.Lys488Glu		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.063112	0.55432	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.51817	0.71;0.69;0.82;0.69	3.91	3.91	0.45181	Proteinase inhibitor I1, Kazal (1);	0.000000	0.47093	D	0.000242	T	0.59074	0.2167	M	0.75447	2.3	0.26152	N	0.980126	D;D;D;P	0.76494	0.996;0.997;0.999;0.46	D;D;D;B	0.73708	0.972;0.953;0.981;0.279	T	0.53858	-0.8379	10	0.06236	T	0.91	-34.0529	9.4193	0.38541	1.0:0.0:0.0:0.0	.	469;488;488;488	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	E	488;488;469;488	ENSP00000381472:K488E;ENSP00000352936:K488E;ENSP00000421519:K469E;ENSP00000256084:K488E	ENSP00000256084:K488E	K	+	1	0	SPINK5	147464739	0.991000	0.36638	1.000000	0.80357	0.758000	0.43043	3.500000	0.53318	2.012000	0.59069	0.260000	0.18958	AAA		0.328	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		4	34	4	34
UBE3D	90025	hgsc.bcm.edu;ucsc.edu	37	6	83754360	83754360	+	Silent	SNP	G	G	C	rs76697527	byFrequency	TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:83754360G>C	ENST00000369747.3	-	4	506	c.384C>G	c.(382-384)ctC>ctG	p.L128L		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	128					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										TCGGCAGTGGGAGCACCCTGA	0.403																																																0													92.0	105.0	101.0					6																	83754360		2203	4300	6503	SO:0001819	synonymous_variant	90025			AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.384C>G	6.37:g.83754360G>C			B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Silent	SNP	ENST00000369747.3	37	CCDS34491.1																																																																																				0.403	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		52	89	52	89
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	152697565	152697565	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:152697565T>C	ENST00000367255.5	-	58	9876	c.9275A>G	c.(9274-9276)gAt>gGt	p.D3092G	SYNE1_ENST00000423061.1_Missense_Mutation_p.D3099G|SYNE1_ENST00000341594.5_Missense_Mutation_p.D3131G|SYNE1_ENST00000265368.4_Missense_Mutation_p.D3092G|SYNE1_ENST00000448038.1_Missense_Mutation_p.D3099G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3092					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGAGGTATATCAAAACACTT	0.358										HNSCC(10;0.0054)																																						0													103.0	110.0	108.0					6																	152697565		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9275A>G	6.37:g.152697565T>C	ENSP00000356224:p.Asp3092Gly		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.8|25.8	4.673992|4.673992	0.88445|0.88445	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.58652|.	1.13;0.33;1.13;0.32;1.13|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.67401|0.67401	0.2889|0.2889	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.997;0.999;1.0|.	T|T	0.68262|0.68262	-0.5455|-0.5455	10|5	0.37606|.	T|.	0.19|.	.|.	15.9822|15.9822	0.80121|0.80121	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3092;209;3092;3099|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	G|V	3092;3099;3092;3099;3131|209	ENSP00000356224:D3092G;ENSP00000396024:D3099G;ENSP00000265368:D3092G;ENSP00000390975:D3099G;ENSP00000341887:D3131G|.	ENSP00000265368:D3092G|.	D|I	-|-	2|1	0|0	SYNE1|SYNE1	152739258|152739258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.635000|7.635000	0.83286|0.83286	2.186000|2.186000	0.69663|0.69663	0.533000|0.533000	0.62120|0.62120	GAT|ATA		0.358	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		45	46	45	46
ITGB8	3696	hgsc.bcm.edu;broad.mit.edu	37	7	20441726	20441726	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:20441726A>G	ENST00000222573.4	+	10	2348	c.1664A>G	c.(1663-1665)tAt>tGt	p.Y555C	ITGB8_ENST00000537992.1_Missense_Mutation_p.Y420C	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	555	Cysteine-rich tandem repeats.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCTTGTCCATATCACCATGGA	0.363																																																0													90.0	94.0	93.0					7																	20441726		2203	4300	6503	SO:0001583	missense	3696				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1664A>G	7.37:g.20441726A>G	ENSP00000222573:p.Tyr555Cys		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118414	0.77323	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.92595	-3.07;-3.07	6.06	6.06	0.98353	EGF, extracellular (1);Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000002	D	0.95217	0.8449	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95560	0.8628	10	0.87932	D	0	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	555	P26012	ITB8_HUMAN	C	420;555	ENSP00000441561:Y420C;ENSP00000222573:Y555C	ENSP00000222573:Y555C	Y	+	2	0	ITGB8	20408251	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	6.190000	0.72057	2.315000	0.78130	0.533000	0.62120	TAT		0.363	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		10	139	10	139
AVL9	23080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	32599062	32599062	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:32599062G>A	ENST00000318709.4	+	10	1422	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	AVL9_ENST00000409301.1_Missense_Mutation_p.A401T|AVL9_ENST00000404479.1_Missense_Mutation_p.A401T	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	401					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CATGCCCCTGGCCATCTTCAC	0.388																																																0													50.0	52.0	51.0					7																	32599062		2093	3951	6044	SO:0001583	missense	23080			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1201G>A	7.37:g.32599062G>A	ENSP00000315568:p.Ala401Thr		Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671095	0.67814	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.41	5.41	0.78517	.	0.103818	0.64402	D	0.000003	T	0.57373	0.2049	L	0.59436	1.845	0.47862	D	0.999532	D;D;P	0.58268	0.982;0.976;0.939	P;P;P	0.57620	0.824;0.542;0.795	T	0.50701	-0.8797	10	0.36615	T	0.2	-14.8706	19.3887	0.94570	0.0:0.0:1.0:0.0	.	401;401;401	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	T	401;401;401;401;332	ENSP00000315568:A401T;ENSP00000387011:A401T;ENSP00000385242:A401T;ENSP00000395134:A332T	ENSP00000315568:A401T	A	+	1	0	AVL9	32565587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.113000	0.57851	2.826000	0.97356	0.655000	0.94253	GCC		0.388	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		29	44	29	44
PPP1R3F	89801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	49142309	49142309	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:49142309C>T	ENST00000055335.6	+	4	1173	c.1157C>T	c.(1156-1158)cCg>cTg	p.P386L	PPP1R3F_ENST00000438316.1_Missense_Mutation_p.P57L|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.P40L|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.P40L|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.P40L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	386					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TCTGACGTTCCGATGACTGGC	0.577																																																0													42.0	41.0	41.0					X																	49142309		2203	4300	6503	SO:0001583	missense	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1157C>T	X.37:g.49142309C>T	ENSP00000055335:p.Pro386Leu		A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	C	4.854	0.158749	0.09236	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.51817	1.12;1.12;0.69;1.12;1.12	5.27	3.45	0.39498	.	0.474638	0.17946	N	0.156696	T	0.29028	0.0721	N	0.14661	0.345	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.001	B;B;B	0.06405	0.002;0.002;0.0	T	0.20505	-1.0273	10	0.62326	D	0.03	1.3044	8.1842	0.31328	0.0:0.7989:0.0:0.2011	.	57;71;386	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	L	40;57;386;40;40	ENSP00000420687:P40L;ENSP00000415548:P57L;ENSP00000055335:P386L;ENSP00000417535:P40L;ENSP00000365359:P40L	ENSP00000055335:P386L	P	+	2	0	PPP1R3F	49029253	0.113000	0.22115	0.152000	0.22495	0.405000	0.30901	0.262000	0.18460	0.977000	0.38444	0.529000	0.55759	CCG		0.577	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		23	44	23	44
SCN2A	6326	broad.mit.edu;ucsc.edu	37	2	166179921	166179921	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:166179921A>G	ENST00000375437.2	+	12	2217	c.1927A>G	c.(1927-1929)Aag>Gag	p.K643E	SCN2A_ENST00000375427.2_Missense_Mutation_p.K643E|SCN2A_ENST00000283256.6_Missense_Mutation_p.K643E|SCN2A_ENST00000357398.3_Missense_Mutation_p.K643E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	643					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATGAATGGGAAGATGCATAG	0.617																																																0													54.0	48.0	50.0					2																	166179921		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1927A>G	2.37:g.166179921A>G	ENSP00000364586:p.Lys643Glu		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.523906	0.85600	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	5.64	5.64	0.86602	Domain of unknown function DUF3451 (1);	0.557474	0.18199	N	0.148598	D	0.96549	0.8874	M	0.86864	2.845	0.46609	D	0.999129	B;D	0.76494	0.162;0.999	B;D	0.87578	0.071;0.998	D	0.96926	0.9677	10	0.72032	D	0.01	.	15.8587	0.79005	1.0:0.0:0.0:0.0	.	643;643	Q99250-2;Q99250	.;SCN2A_HUMAN	E	643	ENSP00000364586:K643E;ENSP00000349973:K643E;ENSP00000283256:K643E;ENSP00000364576:K643E	ENSP00000283256:K643E	K	+	1	0	SCN2A	165888167	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.401000	0.79962	2.153000	0.67306	0.519000	0.50382	AAG		0.617	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		6	46	6	46
ZNF319	57567	broad.mit.edu;ucsc.edu	37	16	58030901	58030901	+	Silent	SNP	C	C	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr16:58030901C>T	ENST00000299237.2	-	2	1891	c.1269G>A	c.(1267-1269)gcG>gcA	p.A423A	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCCGCTCGGCCGCGCCGGGCA	0.657																																																0													27.0	29.0	28.0					16																	58030901		2195	4297	6492	SO:0001819	synonymous_variant	57567			AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1269G>A	16.37:g.58030901C>T			Q52LH8	Silent	SNP	ENST00000299237.2	37	CCDS32462.1																																																																																				0.657	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			14	41	14	41
STXBP5L	9515	broad.mit.edu;hgsc.bcm.edu	37	3	120628568	120628569	+	In_Frame_Ins	INS	-	-	CGC			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr3:120628568_120628569insCGC	ENST00000273666.6	+	2	414_415	c.143_144insCGC	c.(142-147)gaggaa>gaCGCggaa	p.48_48E>DA	STXBP5L_ENST00000492541.1_In_Frame_Ins_p.48_48E>DA|STXBP5L_ENST00000471454.1_In_Frame_Ins_p.48_48E>DA|STXBP5L_ENST00000497029.1_In_Frame_Ins_p.48_48E>DA|STXBP5L_ENST00000472879.1_In_Frame_Ins_p.48_48E>DA	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	48					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTTCTCAGAGAGGAAATTCAGG	0.48																																																0																																										SO:0001652	inframe_insertion	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	Exception_encountered	3.37:g.120628568_120628569insCGC	ENSP00000273666:p.Glu48delinsAspAla		Q4G1B4|Q6PIC3	In_Frame_Ins	INS	ENST00000273666.6	37	CCDS43137.1																																																																																				0.480	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			17	30	17	30
PLCH1	23007	broad.mit.edu;hgsc.bcm.edu	37	3	155215187	155215187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr3:155215187delT	ENST00000340059.7	-	14	1779	c.1780delA	c.(1780-1782)accfs	p.T594fs	PLCH1_ENST00000334686.6_Frame_Shift_Del_p.T576fs|PLCH1_ENST00000460012.1_Frame_Shift_Del_p.T576fs|PLCH1_ENST00000447496.2_Frame_Shift_Del_p.T594fs|PLCH1_ENST00000494598.1_Frame_Shift_Del_p.T594fs|PLCH1_ENST00000414191.1_Frame_Shift_Del_p.T576fs	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	594					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCTTCATGGTTTTCCTTCGG	0.468																																																0													122.0	111.0	114.0					3																	155215187		2203	4300	6503	SO:0001589	frameshift_variant	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1780delA	3.37:g.155215187delT	ENSP00000345988:p.Thr594fs		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Frame_Shift_Del	DEL	ENST00000340059.7	37	CCDS46939.1																																																																																				0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		56	81	56	81
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	17	7577076	7577077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:7577076_7577077insC	ENST00000269305.4	-	8	1050_1051	c.861_862insG	c.(859-864)gagaatfs	p.N288fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.N288fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.N288fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.N288fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Ins_p.N288fs	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	288	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N288fs*13(17)|p.0?(8)|p.E287E(5)|p.N288Y(3)|p.N288fs*18(3)|p.E287D(2)|p.?(2)|p.R283fs*16(2)|p.N288fs*57(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.E287fs*17(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.N288D(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.N288fs*17(1)|p.N288fs*15(1)|p.E285_L289delEEENL(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)	TTGCGGAGATTCTCTTCCTCTG	0.569		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"""	58	Deletion - Frameshift(28)|Whole gene deletion(8)|Deletion - In frame(6)|Substitution - Missense(6)|Substitution - coding silent(5)|Insertion - Frameshift(3)|Unknown(2)	upper_aerodigestive_tract(20)|urinary_tract(5)|breast(5)|liver(5)|large_intestine(4)|stomach(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(2)|soft_tissue(1)|oesophagus(1)|lung(1)																																								SO:0001589	frameshift_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.862dupG	17.37:g.7577077_7577077dupC	ENSP00000269305:p.Asn288fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				0.569	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	43	33	43
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76939673	76939674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:76939673_76939674insT	ENST00000373344.5	-	9	1288_1289	c.1074_1075insA	c.(1072-1077)aaactgfs	p.L359fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.L321fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	359					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						GTCTCAATCAGTTTTTTTGCCT	0.366			"""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.1075dupA	X.37:g.76939680_76939680dupT	ENSP00000362441:p.Leu359fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	CCDS14434.1																																																																																				0.366	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		71	136	71	136
