#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PPP1R16A	84988	broad.mit.edu	37	8	145726591	145726591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr8:145726591C>T	ENST00000292539.4	+	10	2034	c.1117C>T	c.(1117-1119)Caa>Taa	p.Q373*	PPP1R16A_ENST00000435887.1_Nonsense_Mutation_p.Q373*|GPT_ENST00000394955.2_5'Flank|GPT_ENST00000528431.1_5'Flank|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	373						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CATCGTGTGGCAACAGCCGCC	0.716																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(1117-1119)Caa>Taa		protein phosphatase 1, regulatory subunit 16A							19.0	21.0	20.0					8																	145726591		2180	4277	6457	SO:0001587	stop_gained	84988					plasma membrane	protein binding	g.chr8:145726591C>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1117C>T	8.37:g.145726591C>T	ENSP00000292539:p.Gln373*					PPP1R16A_ENST00000435887.1_Nonsense_Mutation_p.Q373*	p.Q373*			Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		10	2034	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		373					D3DWM5	Nonsense_Mutation	SNP	ENST00000292539.4	37	c.1117C>T	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943132	0.92526	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	.	.	.	4.72	3.78	0.43462	.	0.247880	0.36303	N	0.002677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	11.3091	0.49353	0.183:0.817:0.0:0.0	.	.	.	.	X	373	.	ENSP00000292539:Q373X	Q	+	1	0	PPP1R16A	145697399	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.766000	0.55280	2.153000	0.67306	0.462000	0.41574	CAA		0.716	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		3	10	0	0	0	1	0	3	10				
ALPK3	57538	broad.mit.edu	37	15	85402608	85402608	+	Nonsense_Mutation	SNP	G	G	T	rs142686791		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr15:85402608G>T	ENST00000258888.5	+	7	4725	c.4558G>T	c.(4558-4560)Gag>Tag	p.E1520*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1520	Ig-like 2.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCAGTGGGCGAGGTGGGCAG	0.552																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(4558-4560)Gag>Tag		alpha-kinase 3							65.0	56.0	59.0					15																	85402608		2203	4299	6502	SO:0001587	stop_gained	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85402608G>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4558G>T	15.37:g.85402608G>T	ENSP00000258888:p.Glu1520*						p.E1520*	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		7	4725	+			1520			Ig-like 2.		Q9P2L6	Nonsense_Mutation	SNP	ENST00000258888.5	37	c.4558G>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	45	11.739213	0.99597	.	.	ENSG00000136383	ENST00000258888	.	.	.	5.65	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-32.2291	9.244	0.37513	0.1651:0.0:0.8349:0.0	.	.	.	.	X	1520	.	ENSP00000258888:E1520X	E	+	1	0	ALPK3	83203612	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.050000	0.64251	2.664000	0.90586	0.655000	0.94253	GAG		0.552	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		8	34	1	0	2.62144e-13	1	2.70336e-13	8	34				
FANCF	2188	broad.mit.edu	37	11	22647295	22647295	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:22647295G>C	ENST00000327470.3	-	1	92	c.62C>G	c.(61-63)aCc>aGc	p.T21S	AC103801.2_ENST00000428556.2_3'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	21					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GCTGACGTAGGTAGTGCTTGA	0.637			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000327470.3			yes	Rec		Fanconi anaemia F	11	11p15	2188	"""N, F"""	"""Fanconi anemia, complementation group F"""			L		"""AML, leukemia"""			0				kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						c.(61-63)aCc>aGc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group F							45.0	47.0	46.0					11																	22647295		2203	4300	6503	SO:0001583	missense	2188	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22647295G>C		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.62C>G	11.37:g.22647295G>C	ENSP00000330875:p.Thr21Ser					AC103801.2_ENST00000428556.2_3'UTR	p.T21S	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN			1	92	-			21					Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.62C>G	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.257039	0.01457	.	.	ENSG00000183161	ENST00000327470	T	0.30981	1.51	5.39	0.924	0.19418	.	1.035320	0.07670	N	0.935373	T	0.19005	0.0456	N	0.15975	0.35	0.09310	N	0.999996	B	0.02656	0.0	B	0.08055	0.003	T	0.27938	-1.0059	10	0.20519	T	0.43	-0.8619	12.0326	0.53406	0.0:0.3999:0.4876:0.1125	.	21	Q9NPI8	FANCF_HUMAN	S	21	ENSP00000330875:T21S	ENSP00000330875:T21S	T	-	2	0	FANCF	22603871	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	0.616000	0.24344	0.327000	0.23409	0.655000	0.94253	ACC		0.637	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		8	15	0	0	0	1	0	8	15				
PAMR1	25891	broad.mit.edu	37	11	35456159	35456159	+	Silent	SNP	C	C	G			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:35456159C>G	ENST00000378880.2	-	10	1972	c.1527G>C	c.(1525-1527)ctG>ctC	p.L509L	PAMR1_ENST00000278360.3_Silent_p.L526L|PAMR1_ENST00000532848.1_Silent_p.L469L|PAMR1_ENST00000378878.3_Silent_p.L398L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	509	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGACCTTCCCCAGGTCAGTAA	0.557																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(1525-1527)ctG>ctC		peptidase domain containing associated with muscle regeneration 1							111.0	98.0	102.0					11																	35456159		2202	4298	6500	SO:0001819	synonymous_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35456159C>G		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1527G>C	11.37:g.35456159C>G						PAMR1_ENST00000278360.3_Silent_p.L526L|PAMR1_ENST00000532848.1_Silent_p.L469L|PAMR1_ENST00000378878.3_Silent_p.L398L	p.L509L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			10	1972	-			509			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	c.1527G>C	CCDS31460.1																																																																																				0.557	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		15	48	0	0	0	1	0	15	48				
FER	2241	broad.mit.edu	37	5	108382846	108382846	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr5:108382846T>C	ENST00000281092.4	+	16	2255	c.1871T>C	c.(1870-1872)aTa>aCa	p.I624T	FER_ENST00000438717.2_Missense_Mutation_p.I449T	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	624	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTCAAACTTATAGGAGTTTGC	0.313																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(1870-1872)aTa>aCa		fer (fps/fes related) tyrosine kinase							114.0	108.0	110.0					5																	108382846		2202	4298	6500	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108382846T>C	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1871T>C	5.37:g.108382846T>C	ENSP00000281092:p.Ile624Thr					FER_ENST00000438717.2_Missense_Mutation_p.I449T	p.I624T	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	16	2255	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	624			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1871T>C	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.141011	0.77775	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.36340	1.26;1.26	5.33	5.33	0.75918	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.039246	0.85682	D	0.000000	T	0.65739	0.2720	M	0.87971	2.92	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.72972	-0.4129	10	0.87932	D	0	-23.5949	15.5911	0.76530	0.0:0.0:0.0:1.0	.	624	P16591	FER_HUMAN	T	624;449	ENSP00000281092:I624T;ENSP00000394297:I449T	ENSP00000281092:I624T	I	+	2	0	FER	108410745	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.417000	0.80156	2.145000	0.66743	0.454000	0.30748	ATA		0.313	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		5	43	0	0	0	1	0	5	43				
FAM181B	220382	broad.mit.edu	37	11	82443541	82443541	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:82443541C>T	ENST00000329203.3	-	1	1365	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	411										large_intestine(1)|lung(2)|prostate(1)	4						CAAACCCCGTCGGATCTCCAA	0.692																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(1231-1233)Gac>Aac		family with sequence similarity 181, member B							11.0	14.0	13.0					11																	82443541		2169	4253	6422	SO:0001583	missense	220382							g.chr11:82443541C>T	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1231G>A	11.37:g.82443541C>T	ENSP00000365295:p.Asp411Asn						p.D411N	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	1365	-			411					B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	c.1231G>A	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099700	0.76983	.	.	ENSG00000182103	ENST00000329203	T	0.39056	1.1	4.87	3.91	0.45181	.	.	.	.	.	T	0.45498	0.1345	N	0.24115	0.695	0.21861	N	0.999503	D	0.76494	0.999	P	0.62649	0.905	T	0.22347	-1.0219	8	.	.	.	.	11.7272	0.51716	0.1753:0.8247:0.0:0.0	.	411	A6NEQ2	F181B_HUMAN	N	411	ENSP00000365295:D411N	.	D	-	1	0	FAM181B	82121189	0.643000	0.27269	0.839000	0.33178	0.961000	0.63080	1.075000	0.30716	2.522000	0.85027	0.655000	0.94253	GAC		0.692	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		3	14	0	0	0	1	0	3	14				
OR7A10	390892	broad.mit.edu	37	19	14952014	14952014	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr19:14952014G>A	ENST00000248058.1	-	1	675	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GAGATTGCACGTATGGAGGAA	0.458																																						ENST00000248058.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19						c.(676-678)Cgt>Tgt		olfactory receptor, family 7, subfamily A, member 10							76.0	68.0	71.0					19																	14952014		2203	4300	6503	SO:0001583	missense	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14952014G>A		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.676C>T	19.37:g.14952014G>A	ENSP00000248058:p.Arg226Cys						p.R226C	NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN			1	675	-	Ovarian(108;0.203)		226					Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	c.676C>T	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	g	0.819	-0.749385	0.03065	.	.	ENSG00000127515	ENST00000248058	T	0.00084	8.75	2.75	-4.01	0.04045	GPCR, rhodopsin-like superfamily (1);	1.298900	0.05838	N	0.618728	T	0.00073	0.0002	N	0.12887	0.27	0.09310	N	1	B	0.16396	0.017	B	0.17098	0.017	T	0.02075	-1.1218	10	0.25106	T	0.35	.	8.9617	0.35851	0.7274:0.0:0.2726:0.0	.	226	O76100	OR7AA_HUMAN	C	226	ENSP00000248058:R226C	ENSP00000248058:R226C	R	-	1	0	OR7A10	14813014	0.000000	0.05858	0.000000	0.03702	0.566000	0.35808	-2.495000	0.00971	-0.603000	0.05767	0.134000	0.15878	CGT		0.458	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		8	31	0	0	0	1	0	8	31				
GAS2L3	283431	broad.mit.edu	37	12	101018420	101018420	+	Silent	SNP	C	C	T			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:101018420C>T	ENST00000539410.1	+	9	2223	c.1837C>T	c.(1837-1839)Ctg>Ttg	p.L613L	GAS2L3_ENST00000266754.5_Silent_p.L613L|GAS2L3_ENST00000537247.1_Silent_p.L509L|GAS2L3_ENST00000547754.1_Silent_p.L613L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	613					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCGTACCCCACTGTCCATCGT	0.488																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1525-1527)Ctg>Ttg		growth arrest-specific 2 like 3							99.0	88.0	92.0					12																	101018420		2203	4300	6503	SO:0001819	synonymous_variant	283431				cell cycle arrest			g.chr12:101018420C>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1837C>T	12.37:g.101018420C>T						GAS2L3_ENST00000266754.5_Silent_p.L613L|GAS2L3_ENST00000539410.1_Silent_p.L613L|GAS2L3_ENST00000547754.1_Silent_p.L613L	p.L509L			Q86XJ1	GA2L3_HUMAN			10	2479	+			613					B2RCN2	Silent	SNP	ENST00000539410.1	37	c.1525C>T	CCDS9079.1																																																																																				0.488	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		10	35	0	0	0	1	0	10	35				
RNF40	9810	broad.mit.edu	37	16	30774767	30774767	+	Missense_Mutation	SNP	G	G	T	rs556209638		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr16:30774767G>T	ENST00000324685.6	+	4	764	c.329G>T	c.(328-330)cGa>cTa	p.R110L	C16orf93_ENST00000545825.1_5'Flank|C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000357890.5_Missense_Mutation_p.R110L|C16orf93_ENST00000543610.1_5'Flank|RNF40_ENST00000563683.1_Missense_Mutation_p.R110L|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	110					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCCCTTCTCCGATGCCATGAG	0.542																																						ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(328-330)cGa>cTa		ring finger protein 40, E3 ubiquitin protein ligase							75.0	75.0	75.0					16																	30774767		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30774767G>T	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.329G>T	16.37:g.30774767G>T	ENSP00000325677:p.Arg110Leu					RNF40_ENST00000357890.5_Missense_Mutation_p.R110L|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.R110L	p.R110L	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		4	764	+			110					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.329G>T	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339131	0.60963	.	.	ENSG00000103549	ENST00000324685;ENST00000357890	T;T	0.33654	1.4;1.42	5.84	4.87	0.63330	.	0.369008	0.28093	N	0.016626	T	0.29850	0.0746	L	0.43152	1.355	0.80722	D	1	B;B;B	0.30281	0.275;0.117;0.117	B;B;B	0.29716	0.061;0.106;0.106	T	0.13845	-1.0494	10	0.66056	D	0.02	-1.0246	8.2887	0.31943	0.1799:0.0:0.8201:0.0	.	110;110;110	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	L	110	ENSP00000325677:R110L;ENSP00000350563:R110L	ENSP00000325677:R110L	R	+	2	0	RNF40	30682268	0.546000	0.26457	0.986000	0.45419	0.982000	0.71751	1.765000	0.38481	1.438000	0.47492	0.563000	0.77884	CGA		0.542	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		13	32	1	0	2.62699e-14	1	2.79647e-14	13	32				
CRNN	49860	broad.mit.edu	37	1	152383267	152383267	+	Silent	SNP	G	G	A			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr1:152383267G>A	ENST00000271835.3	-	3	353	c.291C>T	c.(289-291)tgC>tgT	p.C97C	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	97					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGAGAGCCGCAGGCTCCCT	0.577																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(289-291)tgC>tgT		cornulin							106.0	121.0	116.0					1																	152383267		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152383267G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.291C>T	1.37:g.152383267G>A						RP1-91G5.3_ENST00000411804.1_RNA	p.C97C	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	353	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		97					B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.291C>T	CCDS1010.1																																																																																				0.577	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		27	136	0	0	0	1	0	27	136				
FAM86B3P	286042	broad.mit.edu	37	8	8095880	8095880	+	RNA	SNP	C	C	T			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr8:8095880C>T	ENST00000310542.3	+	0	0				ALG1L13P_ENST00000523017.1_RNA					family with sequence similarity 86, member B3, pseudogene																		GCCACATGGCCCCAGGCCCAA	0.617																																						ENST00000523017.1																			0																																																			0							g.chr8:8095880C>T			8p23.1	2013-06-10			ENSG00000173295	ENSG00000173295			44371	pseudogene	pseudogene							Standard	NR_024361		Approved		uc011kwt.2		OTTHUMG00000163669		8.37:g.8095880C>T														0	608	-									RNA	SNP	ENST00000310542.3	37																																																																																						0.617	FAM86B3P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000448496.1			3	15	0	0	0	1	0	3	15				
CCRL2	9034	broad.mit.edu	37	3	46450522	46450522	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:46450522C>T	ENST00000399036.3	+	2	1304	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	CCRL2_ENST00000400882.2_Missense_Mutation_p.R318C|CCRL2_ENST00000400880.3_Missense_Mutation_p.R318C|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Missense_Mutation_p.R330C	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	318					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TTTCCATCTGCGTAGTAACAC	0.512																																						ENST00000399036.3																			0											c.(952-954)Cgt>Tgt									148.0	153.0	151.0					3																	46450522		2134	4240	6374	SO:0001583	missense	0							g.chr3:46450522C>T	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.952C>T	3.37:g.46450522C>T	ENSP00000381994:p.Arg318Cys					ACKR5_ENST00000400882.2_Missense_Mutation_p.R318C|ACKR5_ENST00000357392.4_Missense_Mutation_p.R330C|ACKR5_ENST00000400880.3_Missense_Mutation_p.R318C	p.R318C	NM_003965.4	NP_003956.2					2	1304	+								B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	37	c.952C>T	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	C	8.900	0.956104	0.18507	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000400882	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.12	-10.2	0.00374	.	18.041800	0.00899	U	0.002339	T	0.12008	0.0292	N	0.02916	-0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13229	-1.0517	10	0.22109	T	0.4	.	4.4747	0.11729	0.3124:0.4529:0.091:0.1437	.	330;318	O00421-2;O00421	.;CCRL2_HUMAN	C	318;330;318;318	ENSP00000381994:R318C;ENSP00000349967:R330C;ENSP00000383677:R318C;ENSP00000383678:R318C	ENSP00000349967:R330C	R	+	1	0	CCRL2	46425526	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.356000	0.02609	-2.311000	0.00649	-1.269000	0.01422	CGT		0.512	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			25	77	0	0	0	1	0	25	77				
SLC2A13	114134	broad.mit.edu	37	12	40158559	40158559	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:40158559T>C	ENST00000280871.4	-	8	1597	c.1547A>G	c.(1546-1548)tAt>tGt	p.Y516C		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	516					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GAAGACAAGATATAAAATAAG	0.333										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(1546-1548)tAt>tGt		solute carrier family 2 (facilitated glucose transporter), member 13							111.0	124.0	120.0					12																	40158559		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40158559T>C	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1547A>G	12.37:g.40158559T>C	ENSP00000280871:p.Tyr516Cys	HNSCC(50;0.14)					p.Y516C	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			8	1597	-		Lung NSC(34;0.105)|all_lung(34;0.123)	516					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1547A>G	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.017176	0.75161	.	.	ENSG00000151229	ENST00000280871	T	0.77229	-1.08	5.39	5.39	0.77823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90752	0.7097	M	0.93150	3.385	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.93176	0.6570	10	0.87932	D	0	-11.6769	15.4273	0.75061	0.0:0.0:0.0:1.0	.	516	Q96QE2	MYCT_HUMAN	C	516	ENSP00000280871:Y516C	ENSP00000280871:Y516C	Y	-	2	0	SLC2A13	38444826	1.000000	0.71417	0.983000	0.44433	0.914000	0.54420	5.696000	0.68287	2.049000	0.60858	0.528000	0.53228	TAT		0.333	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			7	38	0	0	0	1	0	7	38				
LRP1	4035	broad.mit.edu	37	12	57593708	57593708	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:57593708G>A	ENST00000243077.3	+	62	10380	c.9914G>A	c.(9913-9915)tGc>tAc	p.C3305Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3305	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGCAACCTGTGCCTGCTGTCC	0.587																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(9913-9915)tGc>tAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						80.0	77.0	78.0					12																	57593708		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57593708G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9914G>A	12.37:g.57593708G>A	ENSP00000243077:p.Cys3305Tyr						p.C3305Y	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	62	10380	+			3305			EGF-like 13.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.9914G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400426	0.62177	.	.	ENSG00000123384	ENST00000243077	D	0.99966	-10.09	4.37	4.37	0.52481	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000001	D	0.99984	0.9995	H	0.99712	4.72	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.99406	1.0929	10	0.72032	D	0.01	.	15.8872	0.79261	0.0:0.0:1.0:0.0	.	3305	Q07954	LRP1_HUMAN	Y	3305	ENSP00000243077:C3305Y	ENSP00000243077:C3305Y	C	+	2	0	LRP1	55879975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.796000	0.85898	2.272000	0.75746	0.456000	0.33151	TGC		0.587	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		9	48	0	0	0	1	0	9	48				
DEPDC7	91614	broad.mit.edu	37	11	33050184	33050184	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:33050184C>T	ENST00000241051.3	+	4	720	c.628C>T	c.(628-630)Cgt>Tgt	p.R210C	DEPDC7_ENST00000311388.3_Missense_Mutation_p.R201C	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	210					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						AACAATTGGGCGTCTACTACA	0.383																																						ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(601-603)Cgt>Tgt		DEP domain containing 7							89.0	82.0	84.0					11																	33050184		1868	4105	5973	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33050184C>T		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.628C>T	11.37:g.33050184C>T	ENSP00000241051:p.Arg210Cys					DEPDC7_ENST00000241051.3_Missense_Mutation_p.R210C	p.R201C	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN			4	977	+			210					G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.601C>T	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638348	0.47153	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.16597	2.33;2.34	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.04708	-1.0932	10	0.48119	T	0.1	-14.9224	20.6593	0.99626	0.0:1.0:0.0:0.0	.	201;210	G5E941;Q96QD5	.;DEPD7_HUMAN	C	210;201	ENSP00000241051:R210C;ENSP00000308971:R201C	ENSP00000241051:R210C	R	+	1	0	DEPDC7	33006760	1.000000	0.71417	0.995000	0.50966	0.090000	0.18270	4.212000	0.58514	2.885000	0.99019	0.655000	0.94253	CGT		0.383	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		11	50	0	0	0	1	0	11	50				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	26	0	0	0	1	0	7	26				
COPB1	1315	broad.mit.edu	37	11	14480108	14480108	+	Silent	SNP	G	G	A			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:14480108G>A	ENST00000249923.3	-	21	3072	c.2772C>T	c.(2770-2772)acC>acT	p.T924T	COPB1_ENST00000439561.2_Silent_p.T924T	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	924					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTATATGGCCGGTAACAGCAG	0.433																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(2770-2772)acC>acT		coatomer protein complex, subunit beta 1							81.0	82.0	81.0					11																	14480108		2200	4294	6494	SO:0001819	synonymous_variant	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14480108G>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2772C>T	11.37:g.14480108G>A						COPB1_ENST00000439561.2_Silent_p.T924T	p.T924T	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			21	3072	-			924					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	ENST00000249923.3	37	c.2772C>T	CCDS7815.1																																																																																				0.433	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		3	64	0	0	0	1	0	3	64				
OR4D6	219983	broad.mit.edu	37	11	59225187	59225187	+	Missense_Mutation	SNP	G	G	A	rs147116622		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:59225187G>A	ENST00000300127.2	+	1	777	c.754G>A	c.(754-756)Gtg>Atg	p.V252M		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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						TCTTCACTTCGTGCCTTGTGT	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20402	0.0		0.001	False		,,,				2504	0.0					ENST00000300127.2																			0				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						c.(754-756)Gtg>Atg		olfactory receptor, family 4, subfamily D, member 6		G	MET/VAL	3,4399	6.2+/-15.9	0,3,2198	113.0	105.0	108.0		754	2.1	0.0	11	dbSNP_134	108	17,8573	12.6+/-44.7	0,17,4278	yes	missense	OR4D6	NM_001004708.1	21	0,20,6476	AA,AG,GG		0.1979,0.0682,0.1539	probably-damaging	252/315	59225187	20,12972	2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225187G>A	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.754G>A	11.37:g.59225187G>A	ENSP00000300127:p.Val252Met						p.V252M	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	777	+			252					B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.754G>A	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	9.195	1.026896	0.19512	6.82E-4	0.001979	ENSG00000166884	ENST00000300127	T	0.39787	1.06	6.01	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	0.137675	0.32785	N	0.005651	T	0.54983	0.1892	M	0.76002	2.32	0.09310	N	1	D	0.76494	0.999	D	0.68353	0.957	T	0.45818	-0.9235	10	0.56958	D	0.05	-6.2803	3.9148	0.09219	0.2835:0.0:0.4551:0.2614	.	252	Q8NGJ1	OR4D6_HUMAN	M	252	ENSP00000300127:V252M	ENSP00000300127:V252M	V	+	1	0	OR4D6	58981763	0.000000	0.05858	0.028000	0.17463	0.078000	0.17371	0.379000	0.20585	0.134000	0.18681	-0.136000	0.14681	GTG		0.547	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		5	55	0	0	0	1	0	5	55				
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	byFrequency	TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr17:45128742T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TAATGATTTTTATTATACTTT	0.328													g|||	2160	0.43131	0.3593	0.4986	5008	,	,		16551	0.3482		0.4861	False		,,,				2504	0.5102					ENST00000575173.1																			0																																																			0							g.chr17:45128742T>G																													17.37:g.45128742T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.328	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	62	0	0	0	1	0	4	62				
CDK7	1022	broad.mit.edu	37	5	68555730	68555730	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr5:68555730C>G	ENST00000256443.3	+	7	597	c.494C>G	c.(493-495)cCc>cGc	p.P165R	CDK7_ENST00000514676.1_Missense_Mutation_p.P128R|CDK7_ENST00000513629.1_Intron|CDK7_ENST00000502604.1_Missense_Mutation_p.P72R	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TTTGGGAGCCCCAATAGAGCT	0.413								Nucleotide excision repair (NER)																														ENST00000502604.1																			0				endometrium(1)|lung(2)	3						c.(214-216)cCc>cGc	Nucleotide excision repair (NER)	cyclin-dependent kinase 7							66.0	69.0	68.0					5																	68555730		2203	4300	6503	SO:0001583	missense	1022				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	g.chr5:68555730C>G		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.494C>G	5.37:g.68555730C>G	ENSP00000256443:p.Pro165Arg					CDK7_ENST00000513629.1_Intron|CDK7_ENST00000256443.3_Missense_Mutation_p.P165R|CDK7_ENST00000514676.1_Missense_Mutation_p.P128R	p.P72R			P50613	CDK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	6	705	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	165			Protein kinase.		Q9BS60|Q9UE19	Missense_Mutation	SNP	ENST00000256443.3	37	c.215C>G	CCDS3999.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840602	0.91197	.	.	ENSG00000134058	ENST00000506563;ENST00000256443;ENST00000514676;ENST00000502604	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.78537	-0.2166	10	0.87932	D	0	.	18.5748	0.91150	0.0:1.0:0.0:0.0	.	128;165	D6RAD4;P50613	.;CDK7_HUMAN	R	72;165;128;72	ENSP00000425043:P72R;ENSP00000256443:P165R;ENSP00000422737:P128R;ENSP00000422121:P72R	ENSP00000256443:P165R	P	+	2	0	CDK7	68591486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.517000	0.81783	2.764000	0.94973	0.491000	0.48974	CCC		0.413	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	NM_001799		10	36	0	0	0	1	0	10	36				
FLG	2312	broad.mit.edu	37	1	152280684	152280684	+	Silent	SNP	G	G	C	rs386635457		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr1:152280684G>C	ENST00000368799.1	-	3	6713	c.6678C>G	c.(6676-6678)ggC>ggG	p.G2226G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2226	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGTCCCTGGCCCACCAGTG	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6676-6678)ggC>ggG		filaggrin							242.0	240.0	240.0					1																	152280684		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280684G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6678C>G	1.37:g.152280684G>C						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G2226G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6713	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2226			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.6678C>G	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		24	121	0	0	0	1	0	24	121				
SALL4	57167	broad.mit.edu	37	20	50407255	50407255	+	Silent	SNP	G	G	A	rs201329321		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr20:50407255G>A	ENST00000217086.4	-	2	1878	c.1767C>T	c.(1765-1767)acC>acT	p.T589T	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	589					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCTCTCCCCGGTGTGGGTGC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		19405	0.001		0.0	False		,,,				2504	0.0					ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1765-1767)acC>acT		spalt-like transcription factor 4							93.0	82.0	86.0					20																	50407255		2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407255G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1767C>T	20.37:g.50407255G>A						SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	p.T589T	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	1878	-			589					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.1767C>T	CCDS13438.1																																																																																				0.507	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			13	32	0	0	0	1	0	13	32				
TCTA	6988	broad.mit.edu	37	3	49449962	49449962	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:49449962C>T	ENST00000273590.3	+	1	324	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	RHOA_ENST00000418115.1_5'Flank|RHOA_ENST00000265538.3_5'UTR|RHOA_ENST00000454011.2_5'Flank|RHOA_ENST00000422781.1_5'Flank|TCTA_ENST00000493381.1_3'UTR	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	35						integral component of membrane (GO:0016021)				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGGACATGCGCGTGACCCT	0.652																																						ENST00000273590.3																			0				large_intestine(4)|lung(1)	5						c.(103-105)Cgc>Tgc		T-cell leukemia translocation altered							113.0	119.0	117.0					3																	49449962		2203	4300	6503	SO:0001583	missense	6988					integral to membrane		g.chr3:49449962C>T		CCDS2796.1	3p21	2012-02-27	2012-02-27		ENSG00000145022	ENSG00000145022			11692	protein-coding gene	gene with protein product		600690	"""T-cell leukemia translocation altered gene"""			7728759	Standard	NM_022171		Approved		uc003cwv.4	P57738	OTTHUMG00000156846	ENST00000273590.3:c.103C>T	3.37:g.49449962C>T	ENSP00000273590:p.Arg35Cys					TCTA_ENST00000493381.1_3'UTR|RHOA_ENST00000265538.3_5'UTR	p.R35C	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	324	+			35					B2R4I4|Q6I9U4|Q9BSB0	Missense_Mutation	SNP	ENST00000273590.3	37	c.103C>T	CCDS2796.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744525	0.89663	.	.	ENSG00000145022	ENST00000273590	.	.	.	5.18	5.18	0.71444	.	0.052704	0.64402	D	0.000001	T	0.65974	0.2743	L	0.32530	0.975	0.58432	D	0.999992	D	0.89917	1.0	D	0.80764	0.994	T	0.68303	-0.5444	9	0.87932	D	0	-25.1906	14.0669	0.64837	0.0:1.0:0.0:0.0	.	35	P57738	TCTA_HUMAN	C	35	.	ENSP00000273590:R35C	R	+	1	0	TCTA	49424966	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.814000	0.38972	2.695000	0.91970	0.555000	0.69702	CGC		0.652	TCTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346210.1	NM_022171		3	52	0	0	0	1	0	3	52				
DPPA2	151871	broad.mit.edu	37	3	109031399	109031399	+	Silent	SNP	G	G	A			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:109031399G>A	ENST00000478945.1	-	3	420	c.174C>T	c.(172-174)taC>taT	p.Y58Y		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	58					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TACCTGGATTGTATTTCTTAG	0.413																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(172-174)taC>taT		developmental pluripotency associated 2							183.0	167.0	173.0					3																	109031399		2203	4300	6503	SO:0001819	synonymous_variant	151871					nucleus	nucleic acid binding	g.chr3:109031399G>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.174C>T	3.37:g.109031399G>A							p.Y58Y	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			3	420	-			58					Q8WVF0	Silent	SNP	ENST00000478945.1	37	c.174C>T	CCDS2956.1																																																																																				0.413	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		12	78	0	0	0	1	0	12	78				
SPATA31A6	389730	broad.mit.edu	37	9	43627100	43627100	+	Silent	SNP	T	T	C			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr9:43627100T>C	ENST00000332857.6	-	4	1615	c.1587A>G	c.(1585-1587)caA>caG	p.Q529Q	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	529					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGGAGAGAGCTTGCACTTTAT	0.483																																						ENST00000332857.6																			0											c.(1585-1587)caA>caG		SPATA31 subfamily A, member 6							7.0	8.0	7.0					9																	43627100		598	1511	2109	SO:0001819	synonymous_variant	389730							g.chr9:43627100T>C		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1587A>G	9.37:g.43627100T>C							p.Q529Q	NM_001145196.1	NP_001138668.1					4	1615	-									Silent	SNP	ENST00000332857.6	37	c.1587A>G	CCDS47973.1																																																																																				0.483	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		50	169	0	0	0	1	0	50	169				
TG	7038	broad.mit.edu	37	8	134042179	134042179	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr8:134042179G>A	ENST00000220616.4	+	41	7190	c.7150G>A	c.(7150-7152)Gca>Aca	p.A2384T	TG_ENST00000542445.1_Missense_Mutation_p.A754T|TG_ENST00000377869.1_Missense_Mutation_p.A2327T|TG_ENST00000519543.1_Missense_Mutation_p.A517T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2384					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTCCCTGGCAGCAGACCGTGG	0.652																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(7150-7152)Gca>Aca		thyroglobulin							54.0	56.0	55.0					8																	134042179		2203	4299	6502	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134042179G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7150G>A	8.37:g.134042179G>A	ENSP00000220616:p.Ala2384Thr					TG_ENST00000542445.1_Missense_Mutation_p.A754T|TG_ENST00000519543.1_Missense_Mutation_p.A517T|TG_ENST00000377869.1_Missense_Mutation_p.A2327T	p.A2384T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	41	7190	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2384					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7150G>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.431242|5.431242	0.96150|0.96150	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178;ENST00000518108	T;T;T;T|.	0.58358|.	0.34;0.34;0.34;0.34|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Carboxylesterase, type B (1);|.	0.238117|.	0.35207|.	N|.	0.003378|.	T|T	0.75852|0.75852	0.3906|0.3906	M|M	0.75447|0.75447	2.3|2.3	0.50813|0.50813	D|D	0.999892|0.999892	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.81914|.	0.986;0.995;0.995|.	T|T	0.76386|0.76386	-0.2978|-0.2978	10|5	0.87932|.	D|.	0|.	.|.	17.2154|17.2154	0.86941|0.86941	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	517;754;2384|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	T|N	2327;1190;2384;754;517|839;179	ENSP00000367100:A2327T;ENSP00000220616:A2384T;ENSP00000441693:A754T;ENSP00000430430:A517T|.	ENSP00000220616:A2384T|.	A|S	+|+	1|2	0|0	TG|TG	134111361|134111361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	7.037000|7.037000	0.76531|0.76531	2.407000|2.407000	0.81776|0.81776	0.485000|0.485000	0.47835|0.47835	GCA|AGC		0.652	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		3	40	0	0	0	1	0	3	40				
GRIN2B	2904	broad.mit.edu	37	12	13716215	13716215	+	Silent	SNP	C	C	T	rs141730031		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:13716215C>T	ENST00000609686.1	-	13	4166	c.3957G>A	c.(3955-3957)ccG>ccA	p.P1319P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1319					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTACGCTGCGCGGGGCCAGGG	0.582																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3955-3957)ccG>ccA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	C		0,4406		0,0,2203	66.0	75.0	72.0		3957	-6.4	0.8	12	dbSNP_134	72	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	GRIN2B	NM_000834.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		1319/1485	13716215	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716215C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3957G>A	12.37:g.13716215C>T							p.P1319P	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	4166	-			1319					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3957G>A	CCDS8662.1																																																																																				0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			7	37	0	0	0	1	0	7	37				
CTC-260E6.6	0	broad.mit.edu	37	19	20369528	20369528	+	RNA	SNP	C	C	T	rs575942846		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr19:20369528C>T	ENST00000593655.1	-	0	199																											CTGGAGATGGCGTGACTCACA	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		18807	0.0		0.0	False		,,,				2504	0.001					ENST00000593655.1																			0																																																			0							g.chr19:20369528C>T																													19.37:g.20369528C>T														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.443	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			9	63	0	0	0	1	0	9	63				
GARNL3	84253	broad.mit.edu	37	9	130098420	130098420	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr9:130098420G>A	ENST00000373387.4	+	11	1239	c.887G>A	c.(886-888)cGc>cAc	p.R296H	GARNL3_ENST00000314904.5_Missense_Mutation_p.R296H|GARNL3_ENST00000435213.2_Missense_Mutation_p.R274H	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	296	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GAAAGGAAACGCCACATTGGA	0.413																																						ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(886-888)cGc>cAc		GTPase activating Rap/RanGAP domain-like 3							152.0	119.0	130.0					9																	130098420		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130098420G>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.887G>A	9.37:g.130098420G>A	ENSP00000362485:p.Arg296His					GARNL3_ENST00000435213.2_Missense_Mutation_p.R274H|GARNL3_ENST00000314904.5_Missense_Mutation_p.R296H	p.R296H	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN			11	1239	+			296			Rap-GAP.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.887G>A	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	33	5.194126	0.94960	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	D;D;D	0.96967	-4.19;-4.19;-4.19	5.11	5.11	0.69529	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.993	D	0.99705	1.1005	9	.	.	.	.	17.1185	0.86695	0.0:0.0:1.0:0.0	.	296;274;237	Q5VVW2;B7Z3Q6;Q5VVW4	GARL3_HUMAN;.;.	H	274;296;296	ENSP00000396205:R274H;ENSP00000313970:R296H;ENSP00000362485:R296H	.	R	+	2	0	GARNL3	129138241	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.245000	0.95431	2.376000	0.81061	0.655000	0.94253	CGC		0.413	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		7	29	0	0	0	1	0	7	29				
SEMA3F	6405	broad.mit.edu	37	3	50225399	50225399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:50225399delC	ENST00000002829.3	+	19	2693	c.2209delC	c.(2209-2211)ccafs	p.P737fs	SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.P638fs|SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.P706fs	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	737					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCTGGCCCAGCCAGAAGTGGG	0.697																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(2209-2211)cafs		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							8.0	10.0	9.0					3																	50225399		2170	4243	6413	SO:0001589	frameshift_variant	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50225399delC	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.2209delC	3.37:g.50225399delC	ENSP00000002829:p.Pro737fs					SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.P638fs|SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.P706fs	p.P737fs	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	19	2693	+			737					C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Frame_Shift_Del	DEL	ENST00000002829.3	37	c.2209delC	CCDS2811.1																																																																																				0.697	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		2	4						2	4	---	---	---	---
LINC00502	100874184	broad.mit.edu	37	10	92813180	92813180	+	lincRNA	DEL	A	A	-	rs111380766		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr10:92813180delA	ENST00000423621.1	+	0	264									long intergenic non-protein coding RNA 502																		TGGGCCTGATAAAAAAAAAGC	0.343																																						ENST00000423621.1																			0																																																			0							g.chr10:92813180delA			10q23.31	2012-10-12			ENSG00000224851	ENSG00000224851		"""Long non-coding RNAs"""	43442	non-coding RNA	RNA, long non-coding							Standard	NR_047467		Approved		uc031pwt.1		OTTHUMG00000018738		10.37:g.92813180delA														0	264	+									RNA	DEL	ENST00000423621.1	37																																																																																						0.343	LINC00502-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000049361.1			2	4						2	4	---	---	---	---
