#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
UBN2	254048	broad.mit.edu	37	7	138946218	138946218	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr7:138946218A>T	ENST00000473989.3	+	6	1126	c.1126A>T	c.(1126-1128)Agc>Tgc	p.S376C	UBN2_ENST00000288561.8_Missense_Mutation_p.S293C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	376						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAATCTGAGCAGCGGTGATCC	0.478																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(877-879)Agc>Tgc		ubinuclein 2							91.0	89.0	90.0					7																	138946218		1907	4119	6026	SO:0001583	missense	254048							g.chr7:138946218A>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1126A>T	7.37:g.138946218A>T	ENSP00000418648:p.Ser376Cys					UBN2_ENST00000473989.2_Missense_Mutation_p.S376C	p.S293C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			6	1126	+			376			Lys-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.877A>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859258	0.32884	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.25085	1.82;1.82	5.55	4.4	0.53042	.	0.335396	0.36303	N	0.002668	T	0.20577	0.0495	L	0.36672	1.1	0.09310	N	1	D	0.55800	0.973	B	0.43754	0.43	T	0.08186	-1.0734	9	.	.	.	-4.4342	8.7042	0.34345	0.8553:0.0:0.1447:0.0	.	376	Q6ZU65	UBN2_HUMAN	C	376;293	ENSP00000418648:S376C;ENSP00000288561:S293C	.	S	+	1	0	UBN2	138596758	0.105000	0.21958	0.013000	0.15412	0.095000	0.18619	1.838000	0.39211	1.127000	0.42034	0.533000	0.62120	AGC		0.478	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		42	49	0	0	0	1	0	42	49				
SRCAP	10847	broad.mit.edu	37	16	30735046	30735046	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr16:30735046C>T	ENST00000262518.4	+	25	4686	c.4301C>T	c.(4300-4302)cCa>cTa	p.P1434L	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1372L|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1276L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1434	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTCTCAGTTCCATTGTCATCT	0.582																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(4300-4302)cCa>cTa		Snf2-related CREBBP activator protein							300.0	256.0	271.0					16																	30735046		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30735046C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4301C>T	16.37:g.30735046C>T	ENSP00000262518:p.Pro1434Leu					SRCAP_ENST00000395059.2_Missense_Mutation_p.P1372L|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1276L	p.P1434L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	4686	+			1434			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.4301C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529266	0.27387	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.94897	-3.55;-2.98;-3.08	5.13	5.13	0.70059	.	0.124725	0.37012	N	0.002292	D	0.93281	0.7859	N	0.14661	0.345	0.50813	D	0.999892	P;D;D	0.63046	0.934;0.992;0.986	P;P;P	0.59357	0.559;0.856;0.722	D	0.94532	0.7737	10	0.87932	D	0	-1.0671	16.1066	0.81225	0.0:1.0:0.0:0.0	.	1276;1372;1434	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	L	1434;1372;1276	ENSP00000262518:P1434L;ENSP00000378499:P1372L;ENSP00000343042:P1276L	ENSP00000262518:P1434L	P	+	2	0	SRCAP	30642547	0.050000	0.20438	0.786000	0.31890	0.320000	0.28249	3.112000	0.50368	2.658000	0.90341	0.557000	0.71058	CCA		0.582	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		5	197	0	0	0	1	0	5	197				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	69	0	0	0	1	0	4	69				
MIR24-2	407013	broad.mit.edu	37	19	13947327	13947327	+	lincRNA	SNP	C	C	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr19:13947327C>T	ENST00000386972.1	-	0	0				MIR23A_ENST00000385245.1_RNA|MIR27A_ENST00000385073.1_RNA	NR_029497.1				microRNA 24-2																		AGCCCTGCTCCTCAGGCCAGG	0.657																																						ENST00000385073.1																			0																				38.0	46.0	44.0					19																	13947327		1568	3581	5149			0							g.chr19:13947327C>T			19p13.13	2011-09-12		2008-12-18	ENSG00000209707	ENSG00000276797		"""ncRNAs / Micro RNAs"""	31608	non-coding RNA	RNA, micro		610724		MIRN24-2			Standard	NR_029497		Approved	hsa-mir-24-2					19.37:g.13947327C>T								NR_029501.1						0	4	-									RNA	SNP	ENST00000386972.1	37																																																																																						0.657	MIR24-2-201	KNOWN	basic	miRNA	lincRNA		NR_029497		8	11	0	0	0	1	0	8	11				
PRSS3P2	154754	broad.mit.edu	37	7	142481346	142481346	+	RNA	SNP	T	T	C	rs200370045		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr7:142481346T>C	ENST00000603901.1	+	0	420					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										CCGAGTGCCTTATCTCCGGCT	0.567																																						ENST00000603901.1																			0																				99.0	75.0	83.0					7																	142481346		688	1513	2201			0							g.chr7:142481346T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481346T>C								NR_001296.3						0	420	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.567	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	21	0	0	0	1	0	3	21				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	53	1	0	0.0477658	1	0.0488272	5	53				
ITGA4	3676	broad.mit.edu	37	2	182359504	182359504	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:182359504C>G	ENST00000397033.2	+	12	1734	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	435					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CAGTCTATATCAGGACAAATT	0.308																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1303-1305)tCa>tGa		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						159.0	149.0	152.0					2																	182359504		1826	4086	5912	SO:0001587	stop_gained	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182359504C>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1304C>G	2.37:g.182359504C>G	ENSP00000380227:p.Ser435*						p.S435*	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		12	1734	+			435					D3DPG4|Q7Z4L6	Nonsense_Mutation	SNP	ENST00000397033.2	37	c.1304C>G	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	39	7.896329	0.98548	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	.	.	.	5.83	5.83	0.93111	.	0.295259	0.34046	N	0.004310	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.126	0.97982	0.0:1.0:0.0:0.0	.	.	.	.	X	435	.	ENSP00000233573:S435X	S	+	2	0	ITGA4	182067749	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.634000	0.67833	2.749000	0.94314	0.655000	0.94253	TCA		0.308	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			4	129	0	0	0	1	0	4	129				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	34	0	0	0	1	0	4	34				
LRP1B	53353	broad.mit.edu	37	2	141986794	141986794	+	Silent	SNP	A	A	G			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:141986794A>G	ENST00000389484.3	-	6	1779	c.808T>C	c.(808-810)Tta>Cta	p.L270L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	270					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCTGTTAATCCTCCTGCT	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(808-810)Tta>Cta		low density lipoprotein receptor-related protein 1B							123.0	123.0	123.0					2																	141986794		2202	4300	6502	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141986794A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.808T>C	2.37:g.141986794A>G		TSP Lung(27;0.18)					p.L270L	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	6	1779	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	270					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.808T>C	CCDS2182.1																																																																																				0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		5	81	0	0	0	1	0	5	81				
OR11L1	391189	broad.mit.edu	37	1	248004293	248004293	+	Silent	SNP	T	T	C			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr1:248004293T>C	ENST00000355784.2	-	1	961	c.906A>G	c.(904-906)agA>agG	p.R302R		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	302						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCATGACCTTTCTAACAGCTT	0.373																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(904-906)agA>agG		olfactory receptor, family 11, subfamily L, member 1							90.0	86.0	87.0					1																	248004293		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004293T>C	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.906A>G	1.37:g.248004293T>C							p.R302R	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	961	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		302						Silent	SNP	ENST00000355784.2	37	c.906A>G	CCDS31098.1																																																																																				0.373	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		25	48	0	0	0	1	0	25	48				
DPPA3P2	400206	broad.mit.edu	37	14	36841171	36841171	+	RNA	SNP	A	A	G			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr14:36841171A>G	ENST00000557188.1	+	0	802									developmental pluripotency associated 3 pseudogene 2																		CTATGCTAGTATAGACTATAC	0.323																																						ENST00000557188.1																			0																																																			0							g.chr14:36841171A>G			14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36841171A>G														0	802	+									RNA	SNP	ENST00000557188.1	37																																																																																						0.323	DPPA3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000410122.1			3	30	0	0	0	1	0	3	30				
GOLGA6L3	100133220	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C	rs62009901		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498																																						ENST00000557886.1																			12	Substitution - coding silent(12)	p.V159V(12)	kidney(6)|endometrium(4)|prostate(2)	endometrium(6)|kidney(5)|prostate(1)	12						c.(475-477)gtA>gtG																																						SO:0001819	synonymous_variant	0							g.chr15:83014106T>C																												ENST00000557886.1:c.477A>G	15.37:g.83014106T>C							p.V159V							6	576	-									Silent	SNP	ENST00000557886.1	37	c.477A>G																																																																																					0.498	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1			4	1	0	0	0	1	0	4	1				
GDF6	392255	broad.mit.edu	37	8	97157052	97157052	+	Silent	SNP	G	G	A			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr8:97157052G>A	ENST00000287020.5	-	2	1206	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	369					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					TAATCCAGTCGTCCCAGCCCA	0.637																																						ENST00000287020.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1105-1107)gaC>gaT		growth differentiation factor 6							93.0	78.0	83.0					8																	97157052		2203	4300	6503	SO:0001819	synonymous_variant	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97157052G>A		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1107C>T	8.37:g.97157052G>A							p.D369D	NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN			2	1206	-	Breast(36;2.67e-05)		369					Q6PI58	Silent	SNP	ENST00000287020.5	37	c.1107C>T	CCDS34926.1																																																																																				0.637	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		7	17	0	0	0	1	0	7	17				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs189343211		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	57	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667																																						ENST00000391417.4																			4	Substitution - Missense(4)	p.S57P(4)	urinary_tract(2)|kidney(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(169-171)Tct>Cct		keratin associated protein 4-7							18.0	28.0	25.0					17																	39240627		691	1590	2281	SO:0001583	missense	100132476							g.chr17:39240627T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.169T>C	17.37:g.39240627T>C	ENSP00000375236:p.Ser57Pro						p.S57P	NM_033061.3	NP_149050.3					1	169	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.169T>C	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.387	-0.925721	0.02377	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01272	5.07	3.6	-0.386	0.12466	.	1.254490	0.05892	N	0.628448	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43572	-0.9383	9	0.02654	T	1	.	4.4551	0.11639	0.0:0.4346:0.1731:0.3923	.	57	Q9BYR0	KRA47_HUMAN	P	57	ENSP00000375236:S57P	ENSP00000375236:S57P	S	+	1	0	KRTAP4-9;KRTAP4-7	36494153	0.000000	0.05858	0.033000	0.17914	0.157000	0.22087	-0.806000	0.04525	0.004000	0.14682	0.374000	0.22700	TCT		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			4	50	0	0	0	1	0	4	50				
TTN	7273	broad.mit.edu	37	2	179466815	179466815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:179466815G>A	ENST00000591111.1	-	234	50484	c.50260C>T	c.(50260-50262)Cag>Tag	p.Q16754*	TTN_ENST00000359218.5_Nonsense_Mutation_p.Q9455*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q9330*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q9522*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q15827*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Q18395*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16754	Ig-like 101.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCTAATCTGTGAGCCAGCT	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(55183-55185)Cag>Tag		titin							130.0	125.0	127.0					2																	179466815		1902	4120	6022	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466815G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50260C>T	2.37:g.179466815G>A	ENSP00000465570:p.Gln16754*					TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q9330*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q9522*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q15827*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q9455*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q16754*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	p.Q18395*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	55407	-			16754			Fibronectin type-III 33.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.55183C>T		.	.	.	.	.	.	.	.	.	.	G	60	44.793502	0.99986	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.07	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.1261	0.42649	0.0:0.1117:0.6303:0.258	.	.	.	.	X	15827;9330;9522;9455;9330	.	ENSP00000340554:Q9522X	Q	-	1	0	TTN	179175060	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.621000	0.61233	1.559000	0.49555	-0.176000	0.13171	CAG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	72	0	0	0	1	0	10	72				
PDIA4	9601	broad.mit.edu	37	7	148701035	148701035	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr7:148701035C>T	ENST00000286091.4	-	10	2021	c.1789G>A	c.(1789-1791)Gtg>Atg	p.V597M		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	597	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AAGCCCTCCACCTTATAGCGG	0.552																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(1789-1791)Gtg>Atg		protein disulfide isomerase family A, member 4							90.0	92.0	91.0					7																	148701035		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148701035C>T	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1789G>A	7.37:g.148701035C>T	ENSP00000286091:p.Val597Met						p.V597M	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		10	2021	-	Melanoma(164;0.15)		597			Thioredoxin 3.		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.1789G>A	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677409	0.88445	.	.	ENSG00000155660	ENST00000286091	T	0.08008	3.14	5.81	5.81	0.92471	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.192438	0.46442	D	0.000296	T	0.43853	0.1266	H	0.95224	3.64	0.58432	D	0.999998	P	0.50443	0.935	D	0.66196	0.942	T	0.57406	-0.7817	10	0.87932	D	0	.	20.0734	0.97734	0.0:1.0:0.0:0.0	.	597	P13667	PDIA4_HUMAN	M	597	ENSP00000286091:V597M	ENSP00000286091:V597M	V	-	1	0	PDIA4	148331968	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.731000	0.62022	2.751000	0.94390	0.555000	0.69702	GTG		0.552	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		14	31	0	0	0	1	0	14	31				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	42	0	0	0	1	0	19	42				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	13	0	0	0	1	0	3	13				
USP25	29761	broad.mit.edu	37	21	17199374	17199374	+	Silent	SNP	A	A	G			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr21:17199374A>G	ENST00000285679.6	+	14	1914	c.1545A>G	c.(1543-1545)agA>agG	p.R515R	USP25_ENST00000285681.2_Silent_p.R515R|USP25_ENST00000400183.2_Silent_p.R515R|USP25_ENST00000351097.5_Intron	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	515	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTTCATCGAGATCAGTAATAC	0.468																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(1543-1545)agA>agG		ubiquitin specific peptidase 25							163.0	142.0	149.0					21																	17199374		2203	4300	6503	SO:0001819	synonymous_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17199374A>G	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1545A>G	21.37:g.17199374A>G						USP25_ENST00000400183.2_Silent_p.R515R|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Silent_p.R515R	p.R515R			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	14	1914	+			515					C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	c.1545A>G	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	A	1.742	-0.491378	0.04322	.	.	ENSG00000155313	ENST00000453553	.	.	.	4.6	2.28	0.28536	.	.	.	.	.	T	0.55049	0.1896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48958	-0.8988	4	.	.	.	-5.8687	7.0908	0.25283	0.7723:0.0:0.2277:0.0	.	.	.	.	G	44	.	.	D	+	2	0	USP25	16121245	1.000000	0.71417	0.993000	0.49108	0.061000	0.15899	2.060000	0.41394	0.859000	0.35456	0.455000	0.32223	GAT		0.468	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			31	70	0	0	0	1	0	31	70				
SLC25A27	9481	broad.mit.edu	37	6	46637948	46637948	+	Silent	SNP	C	C	A			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr6:46637948C>A	ENST00000371347.5	+	7	1033	c.781C>A	c.(781-783)Cga>Aga	p.R261R	SLC25A27_ENST00000411689.2_Intron|RP11-446F17.3_ENST00000434329.2_RNA|SLC25A27_ENST00000452689.2_Silent_p.R175R|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	261					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GAATCAACCACGAGATAAACA	0.328																																						ENST00000371347.5																			0				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8						c.(781-783)Cga>Aga		solute carrier family 25, member 27							77.0	73.0	74.0					6																	46637948		1830	4084	5914	SO:0001819	synonymous_variant	9481				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		g.chr6:46637948C>A	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"""Solute carriers"""	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.781C>A	6.37:g.46637948C>A						SLC25A27_ENST00000452689.2_Silent_p.R175R|SLC25A27_ENST00000411689.2_Intron	p.R261R	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	Lung(136;0.192)		7	1033	+			261					F5GWR4|Q5VTS9|Q8N518	Silent	SNP	ENST00000371347.5	37	c.781C>A	CCDS43470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.043|9.043	0.990270|0.990270	0.18966|0.18966	.|.	.|.	ENSG00000153291|ENSG00000153291	ENST00000417490|ENST00000444329	.|.	.|.	.|.	5.72|5.72	3.71|3.71	0.42584|0.42584	.|.	.|.	.|.	.|.	.|.	T|T	0.50188|0.50188	0.1601|0.1601	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49133|0.49133	-0.8971|-0.8971	4|4	.|.	.|.	.|.	-15.6505|-15.6505	12.1|12.1	0.53778|0.53778	0.3477:0.6523:0.0:0.0|0.3477:0.6523:0.0:0.0	.|.	.|.	.|.	.|.	Q|K	58|105	.|.	.|.	H|T	+|+	3|2	2|0	SLC25A27|SLC25A27	46745907|46745907	0.989000|0.989000	0.36119|0.36119	0.995000|0.995000	0.50966|0.50966	0.992000|0.992000	0.81027|0.81027	1.626000|1.626000	0.37039|0.37039	0.690000|0.690000	0.31570|0.31570	0.655000|0.655000	0.94253|0.94253	CAC|ACG		0.328	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277		3	30	1	0	1	1	1	3	30				
PADI3	51702	broad.mit.edu	37	1	17594365	17594365	+	Missense_Mutation	SNP	C	C	T	rs146396025	byFrequency	TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr1:17594365C>T	ENST00000375460.3	+	6	600	c.560C>T	c.(559-561)aCg>aTg	p.T187M		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	187					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTCCTGCGGACGCAGGGCCCT	0.577																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(559-561)aCg>aTg		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	121.0	97.0	105.0		560	4.5	1.0	1	dbSNP_134	105	0,8600		0,0,4300	yes	missense	PADI3	NM_016233.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	187/665	17594365	1,13005	2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17594365C>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.560C>T	1.37:g.17594365C>T	ENSP00000364609:p.Thr187Met						p.T187M	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	6	600	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	187					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.560C>T	CCDS179.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610427	0.46527	2.27E-4	0.0	ENSG00000142619	ENST00000375460	T	0.20881	2.04	5.42	4.51	0.55191	Protein-arginine deiminase (PAD), central domain (2);	0.095886	0.64402	D	0.000001	T	0.20414	0.0491	M	0.69523	2.12	0.43368	D	0.995455	P	0.39903	0.694	B	0.30572	0.117	T	0.03875	-1.0996	10	0.54805	T	0.06	-32.8818	9.5284	0.39178	0.0:0.838:0.0:0.162	.	187	Q9ULW8	PADI3_HUMAN	M	187	ENSP00000364609:T187M	ENSP00000364609:T187M	T	+	2	0	PADI3	17466952	1.000000	0.71417	0.998000	0.56505	0.626000	0.37791	4.641000	0.61375	1.300000	0.44818	-0.224000	0.12420	ACG		0.577	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			23	37	0	0	0	1	0	23	37				
BCL11B	64919	broad.mit.edu	37	14	99641152	99641152	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr14:99641152G>A	ENST00000357195.3	-	4	2030	c.2021C>T	c.(2020-2022)gCg>gTg	p.A674V	BCL11B_ENST00000443726.2_Missense_Mutation_p.A480V|BCL11B_ENST00000345514.2_Missense_Mutation_p.A603V	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	674					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGCAGCGGCGCGGGCTTGCG	0.776			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1807-1809)gCg>gTg		B-cell CLL/lymphoma 11B (zinc finger protein)							8.0	9.0	9.0					14																	99641152		1962	3882	5844	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99641152G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2021C>T	14.37:g.99641152G>A	ENSP00000349723:p.Ala674Val					BCL11B_ENST00000443726.2_Missense_Mutation_p.A480V|BCL11B_ENST00000357195.3_Missense_Mutation_p.A674V	p.A603V	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	2074	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	674			Gly-rich.		Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.1808C>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213158	0.39102	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.11385	2.8;2.81;2.78	3.95	3.95	0.45737	.	0.624309	0.14520	N	0.314527	T	0.05960	0.0155	N	0.08118	0	0.38343	D	0.944122	B;B	0.27192	0.009;0.171	B;B	0.23018	0.021;0.043	T	0.34329	-0.9833	10	0.46703	T	0.11	-8.0723	10.1367	0.42710	0.0946:0.0:0.9054:0.0	.	603;674	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	V	674;603;480	ENSP00000349723:A674V;ENSP00000280435:A603V;ENSP00000387419:A480V	ENSP00000280435:A603V	A	-	2	0	BCL11B	98710905	1.000000	0.71417	0.983000	0.44433	0.940000	0.58332	5.689000	0.68234	1.907000	0.55213	0.561000	0.74099	GCG		0.776	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		11	8	0	0	0	1	0	11	8				
HOXB3	3213	broad.mit.edu	37	17	46629478	46629478	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr17:46629478C>A	ENST00000470495.1	-	1	1806	c.359G>T	c.(358-360)gGc>gTc	p.G120V	HOXB3_ENST00000489475.1_Missense_Mutation_p.G47V|HOXB3_ENST00000311626.4_Missense_Mutation_p.G120V|HOXB3_ENST00000485909.2_Intron|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.G47V|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.G120V|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G120V			P14651	HXB3_HUMAN	homeobox B3	120					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGAGTTGGTGCCGGGACCGCA	0.597																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(358-360)gGc>gTc		homeobox B3							192.0	214.0	207.0					17																	46629478		2203	4300	6503	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46629478C>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.359G>T	17.37:g.46629478C>A	ENSP00000417207:p.Gly120Val					HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.G120V|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000489475.1_Missense_Mutation_p.G47V|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.G120V|HOXB3_ENST00000498678.1_Missense_Mutation_p.G120V|HOXB3_ENST00000472863.1_Missense_Mutation_p.G47V	p.G120V			P14651	HXB3_HUMAN			1	1806	-			120					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.359G>T	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612389	0.28712	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000489475;ENST00000476342;ENST00000471459	D;D;D;D;D;D;T	0.91124	-2.79;-2.74;-2.79;-2.79;-2.74;-2.79;1.52	4.11	4.11	0.48088	.	0.664559	0.14452	U	0.318738	D	0.85513	0.5714	L	0.31926	0.97	0.80722	D	1	P	0.37423	0.594	B	0.35413	0.202	T	0.83184	-0.0087	10	0.23302	T	0.38	.	16.8769	0.86054	0.0:1.0:0.0:0.0	.	120	P14651	HXB3_HUMAN	V	120;47;120;120;47;120;47	ENSP00000417207:G120V;ENSP00000419676:G47V;ENSP00000308252:G120V;ENSP00000420595:G120V;ENSP00000418729:G47V;ENSP00000418892:G120V;ENSP00000417400:G47V	ENSP00000308252:G120V	G	-	2	0	HOXB3	43984477	0.979000	0.34478	0.998000	0.56505	0.873000	0.50193	2.563000	0.45922	2.304000	0.77564	0.484000	0.47621	GGC		0.597	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			151	202	1	0	3.7336e-74	1	3.90331e-74	151	202				
PARD3	56288	broad.mit.edu	37	10	34558691	34558691	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr10:34558691T>C	ENST00000374789.3	-	22	3647	c.3322A>G	c.(3322-3324)Atg>Gtg	p.M1108V	PARD3_ENST00000346874.4_Missense_Mutation_p.M1071V|PARD3_ENST00000374794.3_Missense_Mutation_p.M996V|PARD3_ENST00000466092.1_5'Flank|PARD3_ENST00000545260.1_Missense_Mutation_p.M1018V|PARD3_ENST00000545693.1_Missense_Mutation_p.M1092V|PARD3_ENST00000374788.3_Missense_Mutation_p.M1105V|PARD3_ENST00000374790.3_Missense_Mutation_p.M1048V|PARD3_ENST00000350537.4_Missense_Mutation_p.M1062V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1108					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTGAGAGCCATGGAACCTTCA	0.473																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(3322-3324)Atg>Gtg		par-3 family cell polarity regulator							102.0	93.0	96.0					10																	34558691		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34558691T>C	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3322A>G	10.37:g.34558691T>C	ENSP00000363921:p.Met1108Val					PARD3_ENST00000374794.3_Missense_Mutation_p.M996V|PARD3_ENST00000374790.3_Missense_Mutation_p.M1048V|PARD3_ENST00000545260.1_Missense_Mutation_p.M1018V|PARD3_ENST00000545693.1_Missense_Mutation_p.M1092V|PARD3_ENST00000374788.3_Missense_Mutation_p.M1105V|PARD3_ENST00000346874.4_Missense_Mutation_p.M1071V|PARD3_ENST00000350537.4_Missense_Mutation_p.M1062V	p.M1108V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			22	3647	-		Breast(68;0.0707)	1108					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.3322A>G	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	T	7.357	0.624150	0.14193	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;2.83;2.78;1.6;1.6	5.78	-10.7	0.00240	.	0.965426	0.08633	N	0.916673	T	0.12092	0.0294	N	0.22421	0.69	0.42816	D	0.993977	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.001;0.001;0.001;0.0	T	0.09357	-1.0678	10	0.18710	T	0.47	.	3.9256	0.09262	0.1391:0.2751:0.4333:0.1525	.	996;1018;1025;1062;1092;1071;1105;1108	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	V	1092;1018;1108;1105;1071;996;1062;1048	ENSP00000443147:M1092V;ENSP00000440857:M1018V;ENSP00000363921:M1108V;ENSP00000363920:M1105V;ENSP00000340591:M1071V;ENSP00000363926:M996V;ENSP00000311986:M1062V;ENSP00000363922:M1048V	ENSP00000340591:M1071V	M	-	1	0	PARD3	34598697	0.002000	0.14202	0.001000	0.08648	0.898000	0.52572	-1.012000	0.03649	-1.974000	0.00998	-0.438000	0.05819	ATG		0.473	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		11	32	0	0	0	1	0	11	32				
CEP192	55125	broad.mit.edu	37	18	13114159	13114159	+	Missense_Mutation	SNP	G	G	A	rs373578111		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr18:13114159G>A	ENST00000325971.8	+	40	7003	c.5410G>A	c.(5410-5412)Gca>Aca	p.A1804T	CEP192_ENST00000506447.1_Missense_Mutation_p.A2400T|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.A1925T			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1804					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCCTGAAAACGCATGCCTTTC	0.388																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7198-7200)Gca>Aca		centrosomal protein 192kDa		G	THR/ALA	0,4406		0,0,2203	132.0	130.0	131.0		7198	-6.6	0.0	18		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP192	NM_032142.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	2400/2538	13114159	1,13005	2203	4300	6503	SO:0001583	missense	55125							g.chr18:13114159G>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5410G>A	18.37:g.13114159G>A	ENSP00000317156:p.Ala1804Thr					CEP192_ENST00000325971.8_Missense_Mutation_p.A1804T|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.A1925T	p.A2400T	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			42	7278	+			1995					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.7198G>A		.	.	.	.	.	.	.	.	.	.	G	11.33	1.606697	0.28623	0.0	1.16E-4	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.06294	3.32;3.32;3.32	5.08	-6.57	0.01842	.	0.591809	0.17679	N	0.165692	T	0.02494	0.0076	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.24132	0.098;0.098;0.032;0.028	B;B;B;B	0.12837	0.008;0.008;0.003;0.003	T	0.34800	-0.9814	10	0.26408	T	0.33	-0.026	2.147	0.03790	0.1495:0.2549:0.3607:0.235	.	1925;2400;404;1002	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	T	2400;1804;1804;1925;404	ENSP00000427550:A2400T;ENSP00000317156:A1804T;ENSP00000389190:A1925T	ENSP00000317156:A1804T	A	+	1	0	CEP192	13104159	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.340000	0.07821	-1.107000	0.03004	0.455000	0.32223	GCA		0.388	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		4	179	0	0	0	1	0	4	179				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	52	0	0	0	1	0	5	52				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		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.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	p.Y220C	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)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	10	0	0	0	1	0	28	10				
CDC42BPB	9578	broad.mit.edu	37	14	103465909	103465909	+	Missense_Mutation	SNP	C	C	T	rs147856179		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr14:103465909C>T	ENST00000361246.2	-	5	877	c.589G>A	c.(589-591)Gtg>Atg	p.V197M		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TACCTGTGCACGTAATGAAGC	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		20030	0.0		0.001	False		,,,				2504	0.0					ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(589-591)Gtg>Atg		CDC42 binding protein kinase beta (DMPK-like)							123.0	113.0	116.0					14																	103465909		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103465909C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.589G>A	14.37:g.103465909C>T	ENSP00000355237:p.Val197Met						p.V197M	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	5	877	-		Melanoma(154;0.155)	197			Protein kinase.			Missense_Mutation	SNP	ENST00000361246.2	37	c.589G>A	CCDS9978.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.70	3.876263	0.72180	.	.	ENSG00000198752	ENST00000361246	T	0.49720	0.77	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061993	0.64402	D	0.000004	T	0.69106	0.3074	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73142	-0.4076	10	0.87932	D	0	.	18.5862	0.91189	0.0:1.0:0.0:0.0	.	197	Q9Y5S2	MRCKB_HUMAN	M	197	ENSP00000355237:V197M	ENSP00000355237:V197M	V	-	1	0	CDC42BPB	102535662	1.000000	0.71417	0.994000	0.49952	0.871000	0.50021	4.816000	0.62642	2.465000	0.83290	0.655000	0.94253	GTG		0.463	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		44	60	0	0	0	1	0	44	60				
MAEL	84944	broad.mit.edu	37	1	166987180	166987180	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr1:166987180A>T	ENST00000367872.4	+	10	1269	c.1025A>T	c.(1024-1026)gAt>gTt	p.D342V	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.D311V	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	342					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GTTGTATTGGATGCAGGGCGT	0.458																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(1024-1026)gAt>gTt		maelstrom spermatogenic transposon silencer							153.0	129.0	137.0					1																	166987180		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166987180A>T	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1025A>T	1.37:g.166987180A>T	ENSP00000356846:p.Asp342Val					MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.D311V	p.D342V	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN			10	1269	+			342					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.1025A>T	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755338	0.69648	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624;ENST00000537744	T;T;T	0.59772	0.24;0.28;0.25	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000009	T	0.55909	0.1950	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.63994	-0.6511	10	0.72032	D	0.01	.	12.0145	0.53307	1.0:0.0:0.0:0.0	.	311;342	E9JVC3;Q96JY0	.;MAEL_HUMAN	V	342;311;311;64	ENSP00000356846:D342V;ENSP00000356844:D311V;ENSP00000402143:D311V	ENSP00000356844:D311V	D	+	2	0	MAEL	165253804	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.862000	0.62976	2.098000	0.63641	0.454000	0.30748	GAT		0.458	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		7	67	0	0	0	1	0	7	67				
MOAP1	64112	broad.mit.edu	37	14	93650096	93650096	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr14:93650096C>G	ENST00000556883.1	-	2	976	c.492G>C	c.(490-492)aaG>aaC	p.K164N	MOAP1_ENST00000298894.4_Missense_Mutation_p.K164N|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000415050.2_5'Flank|TMEM251_ENST00000283534.4_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	164					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		acactctcagctttttatact	0.517																																						ENST00000556883.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13						c.(490-492)aaG>aaC		modulator of apoptosis 1							75.0	80.0	79.0					14																	93650096		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93650096C>G	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.492G>C	14.37:g.93650096C>G	ENSP00000451594:p.Lys164Asn					MOAP1_ENST00000298894.4_Missense_Mutation_p.K164N	p.K164N			Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	2	976	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	164					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.492G>C	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846018	0.32606	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.10860	2.83;2.83	3.78	1.97	0.26223	.	.	.	.	.	T	0.16085	0.0387	L	0.28649	0.875	0.28417	N	0.917895	D	0.71674	0.998	D	0.66979	0.948	T	0.10753	-1.0616	9	0.38643	T	0.18	3.2871	6.0892	0.19985	0.0:0.7696:0.0:0.2304	.	164	Q96BY2	MOAP1_HUMAN	N	164	ENSP00000298894:K164N;ENSP00000451594:K164N	ENSP00000298894:K164N	K	-	3	2	MOAP1	92719849	0.996000	0.38824	0.999000	0.59377	0.215000	0.24574	0.043000	0.13971	0.590000	0.29694	0.650000	0.86243	AAG		0.517	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			27	67	0	0	0	1	0	27	67				
AFF4	27125	broad.mit.edu	37	5	132270106	132270106	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr5:132270106A>C	ENST00000265343.5	-	3	1030	c.651T>G	c.(649-651)gaT>gaG	p.D217E	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.D217E	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	217	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAGTTTGCATCAGGGTCCC	0.463																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(649-651)gaT>gaG		AF4/FMR2 family, member 4							116.0	109.0	112.0					5																	132270106		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132270106A>C	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.651T>G	5.37:g.132270106A>C	ENSP00000265343:p.Asp217Glu					AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.D217E	p.D217E	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1030	-		all_cancers(142;0.145)|Breast(839;0.198)	217			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.651T>G	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	A	4.826	0.153585	0.09185	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.60548	0.18;0.18	5.72	4.49	0.54785	.	0.091207	0.85682	D	0.000000	T	0.32041	0.0816	N	0.05554	-0.025	0.37754	D	0.926066	B;B;B	0.14012	0.005;0.009;0.001	B;B;B	0.16722	0.01;0.016;0.003	T	0.26710	-1.0095	10	0.02654	T	1	-11.6615	12.4841	0.55861	0.7499:0.2501:0.0:0.0	.	217;217;217	Q9UHB7-3;Q9UHB7-2;Q9UHB7	.;.;AFF4_HUMAN	E	217	ENSP00000265343:D217E;ENSP00000367858:D217E	ENSP00000265343:D217E	D	-	3	2	AFF4	132298005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.305000	0.33493	2.183000	0.69458	0.455000	0.32223	GAT		0.463	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		4	80	0	0	0	1	0	4	80				
MFSD2B	388931	broad.mit.edu	37	2	24240178	24240178	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:24240178C>T	ENST00000406420.3	+	5	510	c.494C>T	c.(493-495)gCg>gTg	p.A165V	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A165V	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	165					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCCTACACAGCGCTCACCATG	0.667																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(493-495)gCg>gTg		major facilitator superfamily domain containing 2B							16.0	19.0	18.0					2																	24240178		2134	4239	6373	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24240178C>T		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.494C>T	2.37:g.24240178C>T	ENSP00000385527:p.Ala165Val					MFSD2B_ENST00000406420.3_Missense_Mutation_p.A165V	p.A165V			A6NFX1	MFS2B_HUMAN			5	494	+			165					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.494C>T	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853850	0.91355	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.89746	-2.56;-2.56	4.12	4.12	0.48240	Major facilitator superfamily domain, general substrate transporter (1);	0.063138	0.64402	U	0.000006	D	0.93337	0.7876	M	0.75777	2.31	0.58432	D	0.99999	D	0.71674	0.998	D	0.65323	0.934	D	0.94379	0.7603	10	0.87932	D	0	-23.0181	15.5218	0.75871	0.0:1.0:0.0:0.0	.	165	A6NFX1	MFS2B_HUMAN	V	165	ENSP00000385527:A165V;ENSP00000342501:A165V	ENSP00000342501:A165V	A	+	2	0	MFSD2B	24093682	1.000000	0.71417	0.952000	0.39060	0.719000	0.41307	5.343000	0.65976	2.034000	0.60081	0.511000	0.50034	GCG		0.667	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		2	2	0	0	0	1	0	2	2				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	55	0	0	0	1	0	5	55				
COMMD9	29099	broad.mit.edu	37	11	36302379	36302379	+	Silent	SNP	C	C	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr11:36302379C>T	ENST00000263401.5	-	2	76	c.60G>A	c.(58-60)tcG>tcA	p.S20S	COMMD9_ENST00000532705.1_Silent_p.S20S|COMMD9_ENST00000452374.2_Intron	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	20										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				CAACATCTTTCGAGGAGGCCT	0.383																																						ENST00000263401.5																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5						c.(58-60)tcG>tcA		COMM domain containing 9							56.0	58.0	58.0					11																	36302379		2202	4298	6500	SO:0001819	synonymous_variant	29099							g.chr11:36302379C>T	AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.60G>A	11.37:g.36302379C>T						COMMD9_ENST00000452374.2_Intron|COMMD9_ENST00000532705.1_Silent_p.S20S	p.S20S	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN			2	76	-	all_lung(20;0.211)	all_hematologic(20;0.107)	20					E9PAN2|Q96FI2|Q9H0R0	Silent	SNP	ENST00000263401.5	37	c.60G>A	CCDS7900.1																																																																																				0.383	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1	NM_014186		19	20	0	0	0	1	0	19	20				
STAT2	6773	broad.mit.edu	37	12	56743287	56743287	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr12:56743287G>C	ENST00000314128.4	-	15	1287	c.1264C>G	c.(1264-1266)Cta>Gta	p.L422V	RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000557235.1_Missense_Mutation_p.L418V|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_Missense_Mutation_p.L418V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	422					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GTCACACCTAGTGGCCCCTGG	0.527																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1264-1266)Cta>Gta		signal transducer and activator of transcription 2, 113kDa							162.0	156.0	158.0					12																	56743287		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56743287G>C	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1264C>G	12.37:g.56743287G>C	ENSP00000315768:p.Leu422Val					STAT2_ENST00000557235.1_Missense_Mutation_p.L418V|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_Missense_Mutation_p.L418V	p.L422V			P52630	STAT2_HUMAN			15	1287	-			422					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.1264C>G	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370496	0.95900	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	D;D;D	0.88124	-2.34;-2.34;-2.34	5.36	4.45	0.53987	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.90215	0.6941	L	0.48986	1.54	0.58432	D	0.999998	D;P;D	0.89917	1.0;0.849;0.999	D;P;D	0.75020	0.985;0.623;0.965	D	0.88169	0.2863	10	0.27785	T	0.31	-6.81	13.3429	0.60555	0.0:0.0:0.8408:0.1592	.	418;418;422	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	V	422;418;224;418	ENSP00000315768:L422V;ENSP00000450751:L418V;ENSP00000387354:L418V	ENSP00000315768:L422V	L	-	1	2	STAT2	55029554	1.000000	0.71417	0.085000	0.20634	0.974000	0.67602	6.095000	0.71439	1.351000	0.45789	0.563000	0.77884	CTA		0.527	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		7	159	0	0	0	1	0	7	159				
SCNN1B	6338	broad.mit.edu	37	16	23383131	23383131	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr16:23383131C>T	ENST00000343070.2	+	7	1255	c.1079C>T	c.(1078-1080)cCg>cTg	p.P360L	SCNN1B_ENST00000568923.1_Missense_Mutation_p.P333L|SCNN1B_ENST00000307331.5_Missense_Mutation_p.P405L|SCNN1B_ENST00000568085.1_Intron	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	360					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCTACAGCCCGTGCACCGTG	0.587																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1078-1080)cCg>cTg		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						168.0	152.0	157.0					16																	23383131		2197	4300	6497	SO:0001583	missense	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23383131C>T	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1079C>T	16.37:g.23383131C>T	ENSP00000345751:p.Pro360Leu					SCNN1B_ENST00000307331.5_Missense_Mutation_p.P405L|SCNN1B_ENST00000568085.1_Intron|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P333L	p.P360L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	7	1255	+			360					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.1079C>T	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	C	8.676	0.904004	0.17760	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.62788	0.0;0.0	4.64	-0.126	0.13515	.	0.730444	0.13376	N	0.392516	T	0.45013	0.1321	N	0.24115	0.695	0.35625	D	0.809781	B	0.24920	0.114	B	0.24394	0.053	T	0.40664	-0.9551	10	0.66056	D	0.02	-24.9388	8.9264	0.35643	0.5986:0.3174:0.084:0.0	.	360	P51168	SCNNB_HUMAN	L	360;405	ENSP00000345751:P360L;ENSP00000302874:P405L	ENSP00000302874:P405L	P	+	2	0	SCNN1B	23290632	0.611000	0.26992	0.777000	0.31699	0.073000	0.16967	1.034000	0.30204	-0.197000	0.10350	-0.268000	0.10319	CCG		0.587	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			34	85	0	0	0	1	0	34	85				
GRB7	2886	broad.mit.edu	37	17	37902419	37902419	+	Silent	SNP	C	C	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr17:37902419C>T	ENST00000309156.4	+	14	1673	c.1416C>T	c.(1414-1416)tgC>tgT	p.C472C	GRB7_ENST00000309185.3_Missense_Mutation_p.A443V|GRB7_ENST00000394209.2_Silent_p.C472C|GRB7_ENST00000394204.1_Missense_Mutation_p.A443V|GRB7_ENST00000394211.3_Silent_p.C472C|GRB7_ENST00000445327.2_Silent_p.C495C	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	472	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.C472C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCTCTTTGTGCCACCTGCAGA	0.587																																						ENST00000309185.3																			1	Substitution - coding silent(1)	p.C472C(1)	urinary_tract(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1327-1329)gCc>gTc		growth factor receptor-bound protein 7							148.0	134.0	139.0					17																	37902419		2203	4300	6503	SO:0001819	synonymous_variant	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37902419C>T	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1416C>T	17.37:g.37902419C>T						GRB7_ENST00000394204.1_Missense_Mutation_p.A443V|GRB7_ENST00000394209.2_Silent_p.C472C|GRB7_ENST00000445327.2_Silent_p.C495C|GRB7_ENST00000394211.3_Silent_p.C472C|GRB7_ENST00000309156.4_Silent_p.C472C	p.A443V			Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		13	1578	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		0			SH2.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1328C>T	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.186042	0.78789	.	.	ENSG00000141738	ENST00000309185;ENST00000394204	T;T	0.56444	0.46;0.46	5.18	0.888	0.19206	.	.	.	.	.	T	0.41465	0.1160	.	.	.	0.24777	N	0.992835	B	0.12013	0.005	B	0.11329	0.006	T	0.40232	-0.9574	8	0.87932	D	0	-27.1618	9.4523	0.38734	0.0:0.6232:0.0:0.3768	.	443	Q14451-2	.	V	443	ENSP00000311752:A443V;ENSP00000377754:A443V	ENSP00000311752:A443V	A	+	2	0	GRB7	35155945	0.969000	0.33509	1.000000	0.80357	0.916000	0.54674	0.215000	0.17562	0.224000	0.20940	-0.974000	0.02594	GCC		0.587	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		5	129	0	0	0	1	0	5	129				
ANKRD36BP2	645784	broad.mit.edu	37	2	89083951	89083951	+	RNA	DEL	A	A	-	rs111608027		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:89083951delA	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		CTTTTTTTTCAGTGTATTTCT	0.348																																						ENST00000393525.3																			0																																																			0							g.chr2:89083951delA			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083951delA														0	576	+									RNA	DEL	ENST00000393525.3	37																																																																																						0.348	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			2	4						2	4	---	---	---	---
COIL	8161	broad.mit.edu	37	17	55028117	55028118	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr17:55028117_55028118insT	ENST00000240316.4	-	2	519_520	c.485_486insA	c.(484-486)aacfs	p.N162fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	162						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTTTTCTCTTGTTTTTTTTGCT	0.366																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(484-486)aaafs		coilin																																				SO:0001589	frameshift_variant	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028117_55028118insT	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.486dupA	17.37:g.55028125_55028125dupT	ENSP00000240316:p.Asn162fs						p.K162fs	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	519_520	-	Breast(9;6.15e-08)		162					B2R931	Frame_Shift_Ins	INS	ENST00000240316.4	37	c.485_486insA	CCDS11592.1																																																																																				0.366	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			9	206						9	206	---	---	---	---
