#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
MYH2	4620	broad.mit.edu	37	17	10436865	10436865	+	Silent	SNP	G	G	A	rs146411264		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:10436865G>A	ENST00000245503.5	-	20	2649	c.2265C>T	c.(2263-2265)atC>atT	p.I755I	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.I755I|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	755	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGTCAATGTCGATGGATGCAA	0.403																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(2263-2265)atC>atT		myosin, heavy chain 2, skeletal muscle, adult		G	,	0,4406		0,0,2203	156.0	146.0	149.0		2265,2265	-8.1	0.7	17	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MYH2	NM_001100112.1,NM_017534.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	755/1942,755/1942	10436865	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10436865G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2265C>T	17.37:g.10436865G>A						CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.I755I	p.I755I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			20	2649	-			755			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.2265C>T	CCDS11156.1																																																																																				0.403	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		7	466	0	0	0	1	0	7	466				
PEG3	5178	broad.mit.edu	37	19	57328906	57328906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:57328906G>A	ENST00000326441.9	-	10	1267	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R302W|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R178W|PEG3_ENST00000593695.1_Missense_Mutation_p.R176W|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	302					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAAATCCCCCGCCGGTGGGTT	0.458																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(904-906)Cgg>Tgg		paternally expressed 3							49.0	57.0	54.0					19																	57328906		2203	4299	6502	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328906G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.904C>T	19.37:g.57328906G>A	ENSP00000326581:p.Arg302Trp					ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R302W|PEG3_ENST00000593695.1_Missense_Mutation_p.R176W|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R178W|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	p.R302W	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1267	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	302					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.904C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475230	0.63737	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02737	4.18;4.18	4.27	3.22	0.36961	.	0.000000	0.43919	D	0.000511	T	0.06962	0.0177	L	0.27053	0.805	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73708	0.972;0.972;0.981	T	0.36407	-0.9749	9	0.51188	T	0.08	-23.6433	11.7512	0.51849	0.0:0.0:0.8225:0.1775	.	178;302;237	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	W	302;302;272	ENSP00000326581:R302W;ENSP00000403051:R302W	ENSP00000292074:R272W	R	-	1	2	ZIM2	62020718	0.147000	0.22687	0.499000	0.27577	0.991000	0.79684	3.450000	0.52957	1.367000	0.46095	0.561000	0.74099	CGG		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			121	335	0	0	0	1	0	121	335				
DTL	51514	broad.mit.edu	37	1	212209261	212209261	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:212209261C>G	ENST00000366991.4	+	1	343	c.29C>G	c.(28-30)cCc>cGc	p.P10R	INTS7_ENST00000440600.2_5'Flank|INTS7_ENST00000366992.3_5'Flank|INTS7_ENST00000366993.3_5'Flank|DTL_ENST00000542077.1_Missense_Mutation_p.P10R|INTS7_ENST00000469606.1_5'Flank|DTL_ENST00000475419.1_3'UTR|INTS7_ENST00000366994.3_5'Flank	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	10					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CTCCGCCAGCCCCAGCTTGGC	0.572																																						ENST00000366991.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(28-30)cCc>cGc		denticleless E3 ubiquitin protein ligase homolog (Drosophila)							64.0	57.0	60.0					1																	212209261		2203	4300	6503	SO:0001583	missense	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212209261C>G	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.29C>G	1.37:g.212209261C>G	ENSP00000355958:p.Pro10Arg					DTL_ENST00000542077.1_Missense_Mutation_p.P10R|DTL_ENST00000475419.1_3'UTR	p.P10R	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	1	343	+			10					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	c.29C>G	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417373	0.83449	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.71103	-0.5;-0.54	5.63	5.63	0.86233	.	0.118711	0.56097	D	0.000025	T	0.81884	0.4917	M	0.64997	1.995	0.40200	D	0.977506	D;P	0.89917	1.0;0.944	D;P	0.87578	0.998;0.587	T	0.82438	-0.0457	10	0.51188	T	0.08	-13.6374	15.2097	0.73209	0.0:1.0:0.0:0.0	.	10;10	F5GZ90;Q9NZJ0	.;DTL_HUMAN	R	10	ENSP00000355958:P10R;ENSP00000443870:P10R	ENSP00000355958:P10R	P	+	2	0	DTL	210275884	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.185000	0.50934	2.652000	0.90054	0.655000	0.94253	CCC		0.572	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		38	97	0	0	0	1	0	38	97				
SHOC2	8036	broad.mit.edu	37	10	112724158	112724158	+	Silent	SNP	A	A	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:112724158A>G	ENST00000369452.4	+	2	387	c.42A>G	c.(40-42)aaA>aaG	p.K14K	SHOC2_ENST00000265277.5_Silent_p.K14K|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	14					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CTAAAGAAAAAGATCCCAAAG	0.383																																						ENST00000369452.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17						c.(40-42)aaA>aaG		soc-2 suppressor of clear homolog (C. elegans)							47.0	51.0	50.0					10																	112724158		2202	4299	6501	SO:0001819	synonymous_variant	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112724158A>G	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.42A>G	10.37:g.112724158A>G						SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Silent_p.K14K	p.K14K	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	2	387	+			14					A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	ENST00000369452.4	37	c.42A>G	CCDS7568.1																																																																																				0.383	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		4	168	0	0	0	1	0	4	168				
LRRC7	57554	broad.mit.edu	37	1	70488845	70488845	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:70488845C>T	ENST00000035383.5	+	15	1498	c.1468C>T	c.(1468-1470)Cgt>Tgt	p.R490C	LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000425754.1_RNA|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.R495C	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	490						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAGGGGCCAGCGTGGGATTAC	0.542																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1483-1485)Cgt>Tgt		leucine rich repeat containing 7							52.0	48.0	49.0					1																	70488845		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70488845C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1468C>T	1.37:g.70488845C>T	ENSP00000035383:p.Arg490Cys					RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.R490C|LRRC7_ENST00000415775.2_Intron	p.R495C			Q96NW7	LRRC7_HUMAN			18	1901	+			490					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1483C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925926	0.52759	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.38077	1.16;1.24	5.86	5.86	0.93980	.	0.257341	0.35495	N	0.003162	T	0.10981	0.0268	N	0.08118	0	0.80722	D	1	P	0.49358	0.923	B	0.35859	0.212	T	0.05273	-1.0895	10	0.72032	D	0.01	.	15.6849	0.77402	0.0:1.0:0.0:0.0	.	490	Q96NW7	LRRC7_HUMAN	C	495;490;313	ENSP00000309245:R495C;ENSP00000035383:R490C	ENSP00000035383:R490C	R	+	1	0	LRRC7	70261433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.522000	0.53480	2.775000	0.95449	0.585000	0.79938	CGT		0.542	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		56	75	0	0	0	1	0	56	75				
CBFB	865	broad.mit.edu	37	16	67070587	67070587	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr16:67070587G>A	ENST00000290858.6	+	3	472	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	CBFB_ENST00000412916.2_Missense_Mutation_p.A71T|CBFB_ENST00000561924.2_5'UTR	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	71					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GTTTTTTCCGGCCAGCTGGCA	0.423			T	MYH11	AML																																	ENST00000290858.6				Dom	yes		16	16q22	865	T	"""core-binding factor, beta subunit"""			L	MYH11		AML		0				breast(3)|large_intestine(1)	4						c.(211-213)Gcc>Acc		core-binding factor, beta subunit							85.0	86.0	86.0					16																	67070587		2200	4300	6500	SO:0001583	missense	865				transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr16:67070587G>A	BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.211G>A	16.37:g.67070587G>A	ENSP00000290858:p.Ala71Thr					CBFB_ENST00000561924.2_5'UTR|CBFB_ENST00000412916.2_Missense_Mutation_p.A71T	p.A71T	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)	3	472	+		Ovarian(137;0.0563)	71					A8K347|Q13124|Q9HCT2	Missense_Mutation	SNP	ENST00000290858.6	37	c.211G>A	CCDS10827.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115638	0.56505	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.05	5.05	0.67936	.	0.054238	0.64402	D	0.000001	T	0.74489	0.3723	L	0.58101	1.795	0.80722	D	1	P;D	0.58268	0.547;0.982	B;D	0.70935	0.361;0.971	T	0.69584	-0.5106	9	0.22109	T	0.4	-2.3241	17.3257	0.87246	0.0:0.0:1.0:0.0	.	71;71	Q13951-2;Q13951	.;PEBB_HUMAN	T	71	.	ENSP00000290858:A71T	A	+	1	0	CBFB	65628088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.171000	0.94802	2.498000	0.84270	0.561000	0.74099	GCC		0.423	CBFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268843.2	NM_001755		6	485	0	0	0	1	0	6	485				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	59	0	0	0	1	0	3	59				
FGF18	8817	broad.mit.edu	37	5	170876235	170876235	+	Missense_Mutation	SNP	G	G	A	rs201988531		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:170876235G>A	ENST00000274625.5	+	4	879	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	112					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCATGAACCGCAAAGGCAAG	0.567													g|||	1	0.000199681	0.0	0.0	5008	,	,		16702	0.0		0.001	False		,,,				2504	0.0					ENST00000274625.5																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9						c.(334-336)cGc>cAc		fibroblast growth factor 18							112.0	89.0	97.0					5																	170876235		2203	4300	6503	SO:0001583	missense	8817				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170876235G>A	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.335G>A	5.37:g.170876235G>A	ENSP00000274625:p.Arg112His						p.R112H	NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	879	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	112					D3DQL7|Q6UWF1	Missense_Mutation	SNP	ENST00000274625.5	37	c.335G>A	CCDS4378.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	21.3	4.124259	0.77436	.	.	ENSG00000156427	ENST00000274625	D	0.89343	-2.5	4.08	3.19	0.36642	.	0.556585	0.16736	U	0.201631	D	0.90769	0.7102	M	0.77820	2.39	0.25546	N	0.987134	D	0.55605	0.972	P	0.53809	0.735	T	0.83312	-0.0022	10	0.72032	D	0.01	-2.8976	6.6409	0.22909	0.0934:0.0:0.7276:0.1789	.	112	O76093	FGF18_HUMAN	H	112	ENSP00000274625:R112H	ENSP00000274625:R112H	R	+	2	0	FGF18	170808840	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	4.443000	0.59994	0.688000	0.31529	0.450000	0.29827	CGC		0.567	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	NM_033649, NM_003862		5	287	0	0	0	1	0	5	287				
PMEPA1	56937	broad.mit.edu	37	20	56234669	56234669	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr20:56234669T>C	ENST00000341744.3	-	2	513	c.194A>G	c.(193-195)tAc>tGc	p.Y65C	PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y15C|PMEPA1_ENST00000472841.1_5'UTR|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y30C|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y15C|PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y15C	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	65					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGACAGCTTGTAGTGGCTCAG	0.577																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(193-195)tAc>tGc		prostate transmembrane protein, androgen induced 1							98.0	68.0	79.0					20																	56234669		2203	4300	6503	SO:0001583	missense	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56234669T>C	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.194A>G	20.37:g.56234669T>C	ENSP00000345826:p.Tyr65Cys					PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y15C|PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y15C|PMEPA1_ENST00000472841.1_5'UTR|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y15C|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y30C	p.Y65C	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			2	513	-			65					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	c.194A>G	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185907	0.57909	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037;ENST00000395819	T;T;T;T;T;T;T	0.68903	-0.36;-0.24;-0.17;-0.17;-0.17;-0.14;-0.17	4.74	4.74	0.60224	.	0.131993	0.52532	D	0.000066	T	0.81413	0.4817	M	0.78049	2.395	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84316	0.0513	10	0.87932	D	0	-27.9109	14.2249	0.65853	0.0:0.0:0.0:1.0	.	30;65	Q5JY37;Q969W9	.;PMEPA_HUMAN	C	65;30;15;15;15;37;122	ENSP00000345826:Y65C;ENSP00000344014:Y30C;ENSP00000379161:Y15C;ENSP00000265626:Y15C;ENSP00000379159:Y15C;ENSP00000401506:Y37C;ENSP00000379164:Y122C	ENSP00000265626:Y15C	Y	-	2	0	PMEPA1	55668075	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	7.867000	0.87062	1.774000	0.52232	0.459000	0.35465	TAC		0.577	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		19	47	0	0	0	1	0	19	47				
PCDHA1	56147	broad.mit.edu	37	5	140167552	140167552	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:140167552C>T	ENST00000504120.2	+	1	1677	c.1677C>T	c.(1675-1677)aaC>aaT	p.N559N	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.N559N	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGAGAACGACAACGCGC	0.672																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1675-1677)aaC>aaT									86.0	87.0	87.0					5																	140167552		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140167552C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1677C>T	5.37:g.140167552C>T						PCDHA1_ENST00000378133.3_Silent_p.N559N|PCDHA1_ENST00000394633.3_Intron	p.N559N	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1677	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1677C>T	CCDS54913.1																																																																																				0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		147	403	0	0	0	1	0	147	403				
DBF4B	80174	broad.mit.edu	37	17	42828492	42828492	+	Silent	SNP	G	G	A	rs148114647	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:42828492G>A	ENST00000315005.3	+	14	1857	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	573					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTCACATCCGTGTACCCTTG	0.547																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(1717-1719)ccG>ccA		DBF4 homolog B (S. cerevisiae)		G	,	2,4404	4.2+/-10.8	0,2,2201	126.0	106.0	113.0		,1719	-4.8	0.0	17	dbSNP_134	113	5,8595	4.3+/-15.6	0,5,4295	no	intron,coding-synonymous	DBF4B	NM_025104.3,NM_145663.2	,	0,7,6496	AA,AG,GG		0.0581,0.0454,0.0538	,	,573/616	42828492	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828492G>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1719G>A	17.37:g.42828492G>A						DBF4B_ENST00000393547.2_Intron	p.P573P	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			14	1857	+		Prostate(33;0.0322)	573					D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	ENST00000315005.3	37	c.1719G>A	CCDS11485.1																																																																																				0.547	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		100	430	0	0	0	1	0	100	430				
CPXM2	119587	broad.mit.edu	37	10	125557566	125557566	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:125557566C>T	ENST00000241305.3	-	6	969	c.815G>A	c.(814-816)cGc>cAc	p.R272H	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	272	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGGGTTTATGCGGATGTAGCG	0.517																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(814-816)cGc>cAc		carboxypeptidase X (M14 family), member 2							125.0	105.0	112.0					10																	125557566		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125557566C>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.815G>A	10.37:g.125557566C>T	ENSP00000241305:p.Arg272His					CPXM2_ENST00000368854.3_5'UTR	p.R272H	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	6	969	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	272			F5/8 type C.		B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.815G>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328790	0.60743	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.99105	-5.43	4.46	4.46	0.54185	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99645	0.9869	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97155	0.9834	10	0.87932	D	0	1.3719	17.3109	0.87210	0.0:1.0:0.0:0.0	.	272	Q8N436	CPXM2_HUMAN	H	272;105;272	ENSP00000241305:R272H	ENSP00000241305:R272H	R	-	2	0	CPXM2	125547556	1.000000	0.71417	0.963000	0.40424	0.035000	0.12851	7.219000	0.78000	2.292000	0.77174	0.557000	0.71058	CGC		0.517	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		4	215	0	0	0	1	0	4	215				
PLA2G2C	391013	broad.mit.edu	37	1	20501534	20501534	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:20501534C>A	ENST00000429261.2	-	2	205	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	PLA2G2C_ENST00000247992.5_Missense_Mutation_p.G52W|PLA2G2C_ENST00000495760.2_5'UTR			Q5R387	PA2GC_HUMAN	phospholipase A2, group IIC	49					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTTTATCCCCAAGCCCACAG	0.502																																						ENST00000429261.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7						c.(145-147)Ggg>Tgg		phospholipase A2, group IIC							57.0	63.0	61.0					1																	20501534		1964	4165	6129	SO:0001583	missense	391013							g.chr1:20501534C>A			1p36.12	2010-06-04	2003-10-13		ENSG00000187980	ENSG00000187980			9032	protein-coding gene	gene with protein product			"""phospholipase A2, group IIC (possible pseudogene)"""			8838795	Standard	NM_001105572		Approved		uc009vpq.1	Q5R387	OTTHUMG00000002705	ENST00000429261.2:c.145G>T	1.37:g.20501534C>A	ENSP00000389335:p.Gly49Trp					PLA2G2C_ENST00000495760.2_5'UTR|PLA2G2C_ENST00000247992.5_Missense_Mutation_p.G52W	p.G49W						UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	205	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)						Q7M4M6	Missense_Mutation	SNP	ENST00000429261.2	37	c.145G>T		.	.	.	.	.	.	.	.	.	.	C	18.49	3.635175	0.67130	.	.	ENSG00000187980	ENST00000429261;ENST00000247992	T;D	0.86030	1.34;-2.06	5.13	5.13	0.70059	.	0.000000	0.56097	D	0.000031	D	0.94621	0.8266	H	0.96142	3.775	0.50632	D	0.99988	.	.	.	.	.	.	D	0.95955	0.8957	8	0.87932	D	0	.	14.0795	0.64912	0.0:1.0:0.0:0.0	.	.	.	.	W	49;52	ENSP00000389335:G49W;ENSP00000247992:G52W	ENSP00000247992:G52W	G	-	1	0	PLA2G2C	20374121	0.879000	0.30193	1.000000	0.80357	0.765000	0.43378	2.413000	0.44618	2.364000	0.80123	0.655000	0.94253	GGG		0.502	PLA2G2C-001	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000007689.3	NM_001105572		5	127	1	0	0.0215528	1	0.0221745	5	127				
ESRRG	2104	broad.mit.edu	37	1	216680448	216680448	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:216680448C>A	ENST00000408911.3	-	7	1363	c.1210G>T	c.(1210-1212)Gct>Tct	p.A404S	ESRRG_ENST00000361395.2_Missense_Mutation_p.A381S|ESRRG_ENST00000493748.1_Missense_Mutation_p.A381S|ESRRG_ENST00000366940.2_Missense_Mutation_p.A381S|ESRRG_ENST00000463665.1_Missense_Mutation_p.A342S|ESRRG_ENST00000493603.1_Missense_Mutation_p.A381S|ESRRG_ENST00000359162.2_Missense_Mutation_p.A381S|ESRRG_ENST00000366937.1_Missense_Mutation_p.A416S|ESRRG_ENST00000361525.3_Missense_Mutation_p.A381S|ESRRG_ENST00000366938.2_Missense_Mutation_p.A381S|ESRRG_ENST00000360012.3_Missense_Mutation_p.A381S|ESRRG_ENST00000391890.3_Missense_Mutation_p.A388S|ESRRG_ENST00000487276.1_Missense_Mutation_p.A381S	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	404					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGCTGGCCAGCTTCATAATCC	0.498																																						ENST00000391890.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1162-1164)Gct>Tct		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)						114.0	101.0	106.0					1																	216680448		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216680448C>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.1210G>T	1.37:g.216680448C>A	ENSP00000386171:p.Ala404Ser					ESRRG_ENST00000366937.1_Missense_Mutation_p.A416S|ESRRG_ENST00000463665.1_Missense_Mutation_p.A342S|ESRRG_ENST00000493748.1_Missense_Mutation_p.A381S|ESRRG_ENST00000493603.1_Missense_Mutation_p.A381S|ESRRG_ENST00000408911.3_Missense_Mutation_p.A404S|ESRRG_ENST00000487276.1_Missense_Mutation_p.A381S|ESRRG_ENST00000361525.3_Missense_Mutation_p.A381S|ESRRG_ENST00000366938.2_Missense_Mutation_p.A381S|ESRRG_ENST00000359162.2_Missense_Mutation_p.A381S|ESRRG_ENST00000366940.2_Missense_Mutation_p.A381S|ESRRG_ENST00000360012.3_Missense_Mutation_p.A381S|ESRRG_ENST00000361395.2_Missense_Mutation_p.A381S	p.A388S	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	9	1679	-			404					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.1162G>T	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847181	0.32606	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748	D;D;D;D;D;D;D;D;D;D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01	5.61	5.61	0.85477	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.047654	0.85682	D	0.000000	D	0.91633	0.7356	N	0.12569	0.235	0.80722	D	1	B;B;B	0.10296	0.0;0.002;0.003	B;B;B	0.15052	0.008;0.012;0.012	D	0.86965	0.2094	10	0.19590	T	0.45	.	19.652	0.95819	0.0:1.0:0.0:0.0	.	342;416;404	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	S	381;381;416;404;381;381;381;381;381;388;342;381;381;381	ENSP00000355225:A381S;ENSP00000355907:A381S;ENSP00000355904:A416S;ENSP00000386171:A404S;ENSP00000352077:A381S;ENSP00000354584:A381S;ENSP00000355905:A381S;ENSP00000353108:A381S;ENSP00000419594:A381S;ENSP00000375761:A388S;ENSP00000418629:A342S;ENSP00000419155:A381S;ENSP00000417374:A381S	ENSP00000346386:A381S	A	-	1	0	ESRRG	214747071	1.000000	0.71417	0.973000	0.42090	0.976000	0.68499	4.892000	0.63193	2.656000	0.90262	0.561000	0.74099	GCT		0.498	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		8	439	1	0	0.00307968	1	0.00323064	8	439				
KCNQ3	3786	broad.mit.edu	37	8	133141815	133141815	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:133141815C>T	ENST00000388996.4	-	15	2733	c.2313G>A	c.(2311-2313)tcG>tcA	p.S771S	KCNQ3_ENST00000521134.1_Silent_p.S651S|KCNQ3_ENST00000519445.1_Silent_p.S759S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	771					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGATTCGGTCCGAGTAGGGGC	0.607																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(2311-2313)tcG>tcA		potassium voltage-gated channel, KQT-like subfamily, member 3							45.0	45.0	45.0					8																	133141815		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133141815C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2313G>A	8.37:g.133141815C>T						KCNQ3_ENST00000521134.1_Silent_p.S651S|KCNQ3_ENST00000519445.1_Silent_p.S759S	p.S771S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2733	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		771					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.2313G>A	CCDS34943.1																																																																																				0.607	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		5	182	0	0	0	1	0	5	182				
HOXA3	3200	broad.mit.edu	37	7	27148046	27148046	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr7:27148046C>T	ENST00000396352.4	-	3	1019	c.820G>A	c.(820-822)Ggt>Agt	p.G274S	HOXA3_ENST00000317201.2_Missense_Mutation_p.G274S|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	274					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGATAGCCACCGGCTCCGGGG	0.627																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(820-822)Ggt>Agt		homeobox A3							86.0	88.0	88.0					7																	27148046		2203	4300	6503	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148046C>T		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.820G>A	7.37:g.27148046C>T	ENSP00000379640:p.Gly274Ser					HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.G274S	p.G274S	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			3	1019	-			274					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.820G>A	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340433	0.41498	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.86297	-2.1;-2.1	5.41	5.41	0.78517	.	0.047410	0.85682	D	0.000000	D	0.91955	0.7452	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90337	0.4356	10	0.33940	T	0.23	.	19.215	0.93772	0.0:1.0:0.0:0.0	.	274	O43365	HXA3_HUMAN	S	274;274;116	ENSP00000379640:G274S;ENSP00000324884:G274S	ENSP00000324884:G274S	G	-	1	0	HOXA3	27114571	1.000000	0.71417	0.432000	0.26747	0.546000	0.35178	6.089000	0.71384	2.539000	0.85634	0.655000	0.94253	GGT		0.627	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			82	278	0	0	0	1	0	82	278				
OR2G2	81470	broad.mit.edu	37	1	247752184	247752184	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:247752184C>T	ENST00000320065.1	+	1	523	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R175C(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGTGGGCATCGCCAAGTGGA	0.557																																						ENST00000320065.1																			1	Substitution - Missense(1)	p.R175C(1)	large_intestine(1)	endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(523-525)Cgc>Tgc		olfactory receptor, family 2, subfamily G, member 2							184.0	171.0	175.0					1																	247752184		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752184C>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.523C>T	1.37:g.247752184C>T	ENSP00000326349:p.Arg175Cys					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.R175C	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	523	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		175					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.523C>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563482	0.45694	.	.	ENSG00000177489	ENST00000320065	T	0.00137	8.68	4.29	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.910260	0.08981	U	0.865762	T	0.00384	0.0012	M	0.80616	2.505	0.09310	N	1	D	0.76494	0.999	D	0.65140	0.932	T	0.49872	-0.8893	10	0.54805	T	0.06	.	3.3058	0.07000	0.2201:0.5548:0.0:0.2251	.	175	Q8NGZ5	OR2G2_HUMAN	C	175	ENSP00000326349:R175C	ENSP00000326349:R175C	R	+	1	0	OR2G2	245818807	0.025000	0.19082	0.764000	0.31436	0.987000	0.75469	2.319000	0.43788	1.013000	0.39391	0.591000	0.81541	CGC		0.557	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			5	393	0	0	0	1	0	5	393				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	249	0	0	0	1	0	5	249				
CHML	1122	broad.mit.edu	37	1	241797637	241797637	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:241797637T>C	ENST00000366553.1	-	1	1595	c.1432A>G	c.(1432-1434)Ata>Gta	p.I478V	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	478					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GGAGGAACTATCAGAATGGAA	0.428																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1432-1434)Ata>Gta		choroideremia-like (Rab escort protein 2)							96.0	94.0	94.0					1																	241797637		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797637T>C	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1432A>G	1.37:g.241797637T>C	ENSP00000355511:p.Ile478Val					OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	p.I478V	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1595	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	478					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1432A>G	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	T	6.570	0.473395	0.12461	.	.	ENSG00000203668	ENST00000366553	D	0.82167	-1.58	5.08	0.907	0.19321	.	0.297564	0.35013	N	0.003520	T	0.66954	0.2842	.	.	.	0.21147	N	0.999771	B	0.02656	0.0	B	0.09377	0.004	T	0.53236	-0.8467	9	0.42905	T	0.14	-1.3604	0.6338	0.00799	0.164:0.2371:0.1696:0.4293	.	478	P26374	RAE2_HUMAN	V	478	ENSP00000355511:I478V	ENSP00000355511:I478V	I	-	1	0	CHML	239864260	0.971000	0.33674	0.988000	0.46212	0.919000	0.55068	1.313000	0.33585	0.059000	0.16252	-0.313000	0.08912	ATA		0.428	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		31	386	0	0	0	1	0	31	386				
TTLL12	23170	broad.mit.edu	37	22	43575882	43575882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr22:43575882G>A	ENST00000216129.6	-	4	734	c.671C>T	c.(670-672)aCg>aTg	p.T224M		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	224					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCACAGCAGCGTGTAGGCCAC	0.657																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(670-672)aCg>aTg		tubulin tyrosine ligase-like family, member 12							51.0	45.0	47.0					22																	43575882		2203	4300	6503	SO:0001583	missense	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43575882G>A	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.671C>T	22.37:g.43575882G>A	ENSP00000216129:p.Thr224Met						p.T224M	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			4	734	-		Ovarian(80;0.221)|Glioma(61;0.222)	224					Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	c.671C>T	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906526	0.72868	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.54479	0.57	5.55	5.55	0.83447	.	0.057372	0.64402	D	0.000001	T	0.63426	0.2510	M	0.77820	2.39	0.58432	D	0.999999	D;D	0.53462	0.96;0.96	P;P	0.46237	0.508;0.508	T	0.70590	-0.4830	10	0.87932	D	0	-2.0841	19.5034	0.95105	0.0:0.0:1.0:0.0	.	224;224	B1AH89;Q14166	.;TTL12_HUMAN	M	224	ENSP00000216129:T224M	ENSP00000216129:T224M	T	-	2	0	TTLL12	41905826	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	9.272000	0.95707	2.593000	0.87608	0.655000	0.94253	ACG		0.657	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		4	160	0	0	0	1	0	4	160				
LINC00957	255031	broad.mit.edu	37	7	44080405	44080405	+	lincRNA	SNP	A	A	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr7:44080405A>G	ENST00000441052.1	+	0	1090				RASA4CP_ENST00000446874.1_RNA					long intergenic non-protein coding RNA 957																		AGAGGAGGTCACGGTCAGCGC	0.672																																						ENST00000441052.1																			0																																																			0							g.chr7:44080405A>G	BC014556		7p13	2013-06-04			ENSG00000235314	ENSG00000235314		"""Long non-coding RNAs"""	22332	non-coding RNA	RNA, long non-coding							Standard	NR_015401		Approved				OTTHUMG00000155351		7.37:g.44080405A>G														0	1090	+									RNA	SNP	ENST00000441052.1	37																																																																																						0.672	LINC00957-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339589.1			5	25	0	0	0	1	0	5	25				
RAB27A	5873	broad.mit.edu	37	15	55497880	55497880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:55497880G>A	ENST00000396307.2	-	6	742	c.491C>T	c.(490-492)gCt>gTt	p.A164V	RAB27A_ENST00000569493.1_Missense_Mutation_p.A164V|RAB27A_ENST00000564609.1_Missense_Mutation_p.A164V|RAB27A_ENST00000336787.1_Missense_Mutation_p.A164V	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	164					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		CCCATTGGCAGCACTAGTTTC	0.443																																						ENST00000396307.2																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9						c.(490-492)gCt>gTt		RAB27A, member RAS oncogene family							200.0	162.0	175.0					15																	55497880		2193	4292	6485	SO:0001583	missense	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55497880G>A	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"""RAB, member RAS oncogene"""	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.491C>T	15.37:g.55497880G>A	ENSP00000379601:p.Ala164Val					RAB27A_ENST00000569493.1_Missense_Mutation_p.A164V|RAB27A_ENST00000564609.1_Missense_Mutation_p.A164V|RAB27A_ENST00000336787.1_Missense_Mutation_p.A164V	p.A164V	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	6	742	-			164					O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP	ENST00000396307.2	37	c.491C>T	CCDS10153.1	.	.	.	.	.	.	.	.	.	.	G	35	5.584941	0.96578	.	.	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	D;D	0.88818	-2.43;-2.43	5.49	5.49	0.81192	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95494	0.8536	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96017	0.9006	10	0.87932	D	0	-18.6991	18.3593	0.90370	0.0:0.0:1.0:0.0	.	164	P51159	RB27A_HUMAN	V	164;156;164	ENSP00000379601:A164V;ENSP00000337761:A164V	ENSP00000337761:A164V	A	-	2	0	RAB27A	53285172	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.751000	0.98889	2.585000	0.87301	0.655000	0.94253	GCT		0.443	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		5	355	0	0	0	1	0	5	355				
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	rs587782529		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C	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	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)	ATCTCGAAGCGCTCACGCCCA	0.522		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)	ENST00000269305.4		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"""		31	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)	central_nervous_system(6)|large_intestine(5)|ovary(4)|bone(4)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|liver(1)|peritoneum(1)|lung(1)|kidney(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	CM981929	TP53	M		c.(1009-1011)Cgc>Tgc	Other conserved DNA damage response genes	tumor protein p53							56.0	44.0	48.0					17																	7574018		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.chr17:7574018G>A	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.1009C>T	17.37:g.7574018G>A	ENSP00000269305:p.Arg337Cys	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_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	p.R337C	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1198	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	337		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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.1009C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159246	0.21454	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95205	-3.64;-3.64	5.43	3.38	0.38709	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.82323	2.585	0.48341	D	0.999635	P	0.39940	0.696	B	0.40940	0.344	D	0.93083	0.6493	10	0.87932	D	0	-7.3279	12.447	0.55657	0.0:0.0:0.6947:0.3053	.	337	P04637	P53_HUMAN	C	337;337;326	ENSP00000269305:R337C;ENSP00000391478:R337C	ENSP00000269305:R337C	R	-	1	0	TP53	7514743	0.558000	0.26554	0.006000	0.13384	0.274000	0.26718	1.012000	0.29924	0.615000	0.30124	0.561000	0.74099	CGC		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	47	0	0	0	1	0	38	47				
BANP	54971	broad.mit.edu	37	16	88061097	88061097	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr16:88061097T>C	ENST00000393207.1	+	8	1101	c.880T>C	c.(880-882)Ttc>Ctc	p.F294L	BANP_ENST00000355022.4_Missense_Mutation_p.F263L|BANP_ENST00000538234.1_Missense_Mutation_p.F302L|BANP_ENST00000393208.2_Missense_Mutation_p.F263L|BANP_ENST00000355163.5_Missense_Mutation_p.F269L|BANP_ENST00000479780.2_Missense_Mutation_p.F263L|BANP_ENST00000286122.7_Missense_Mutation_p.F294L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	294	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.|Interaction with CUX1 and HDAC1. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AGGTCACCTTTTCTATAAATT	0.617																																						ENST00000393207.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.(880-882)Ttc>Ctc		BTG3 associated nuclear protein							64.0	67.0	66.0					16																	88061097		2198	4300	6498	SO:0001583	missense	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88061097T>C	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.880T>C	16.37:g.88061097T>C	ENSP00000376902:p.Phe294Leu					BANP_ENST00000355022.4_Missense_Mutation_p.F263L|BANP_ENST00000286122.7_Missense_Mutation_p.F294L|BANP_ENST00000393208.2_Missense_Mutation_p.F263L|BANP_ENST00000538234.1_Missense_Mutation_p.F302L|BANP_ENST00000479780.2_Missense_Mutation_p.F263L|BANP_ENST00000355163.5_Missense_Mutation_p.F269L	p.F294L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	8	1101	+			294			BEN.|Interaction with CUX1 and HDAC1 (By similarity).		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	c.880T>C	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049507	0.75846	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.5	5.5	0.81552	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	N	0.14661	0.345	0.58432	D	0.999999	P;D;D;D;P;D	0.65815	0.951;0.973;0.963;0.995;0.954;0.993	P;P;D;D;D;D	0.77557	0.696;0.872;0.966;0.989;0.916;0.99	T	0.26538	-1.0100	10	0.51188	T	0.08	-0.7334	14.7894	0.69827	0.0:0.0:0.0:1.0	.	302;269;263;294;263;263	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	L	294;269;259;263;263;263;263;302;294	ENSP00000286122:F294L;ENSP00000347290:F269L;ENSP00000432508:F263L;ENSP00000376903:F263L;ENSP00000347125:F263L;ENSP00000444352:F302L;ENSP00000376902:F294L	ENSP00000286122:F294L	F	+	1	0	BANP	86618598	1.000000	0.71417	0.923000	0.36655	0.252000	0.25951	7.305000	0.78891	2.090000	0.63153	0.379000	0.24179	TTC		0.617	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		94	221	0	0	0	1	0	94	221				
TDRD1	56165	broad.mit.edu	37	10	115970681	115970681	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:115970681G>T	ENST00000369280.1	+	13	2075	c.1615G>T	c.(1615-1617)Gat>Tat	p.D539Y	TDRD1_ENST00000251864.2_Missense_Mutation_p.D539Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D539Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D539Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D200Y			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	539					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCCACGCTCTGATTTTTATCC	0.348																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(1615-1617)Gat>Tat		tudor domain containing 1							120.0	108.0	112.0					10																	115970681		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115970681G>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1615G>T	10.37:g.115970681G>T	ENSP00000358286:p.Asp539Tyr					TDRD1_ENST00000369282.1_Missense_Mutation_p.D539Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D539Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D200Y|TDRD1_ENST00000369280.1_Missense_Mutation_p.D539Y	p.D539Y	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	13	1768	+		Colorectal(252;0.172)|Breast(234;0.188)	539					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.1615G>T		.	.	.	.	.	.	.	.	.	.	G	13.84	2.356797	0.41801	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95	5.9	4.05	0.47172	Maternal tudor protein (1);	0.205916	0.39985	N	0.001202	T	0.27098	0.0664	M	0.75884	2.315	0.09310	N	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.81914	0.978;0.973;0.995;0.955;0.991	T	0.07366	-1.0776	10	0.66056	D	0.02	-14.3001	5.4576	0.16600	0.2129:0.0:0.6388:0.1482	.	200;539;539;539;539	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	Y	539;539;539;200;539	ENSP00000358288:D539Y;ENSP00000251864:D539Y;ENSP00000358287:D539Y;ENSP00000402794:D200Y;ENSP00000358286:D539Y	ENSP00000251864:D539Y	D	+	1	0	TDRD1	115960671	0.914000	0.31030	0.540000	0.28089	0.698000	0.40448	1.437000	0.34991	1.498000	0.48600	0.563000	0.77884	GAT		0.348	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			77	199	1	0	6.8793e-45	1	7.4352e-45	77	199				
BCL7A	605	broad.mit.edu	37	12	122492809	122492809	+	Missense_Mutation	SNP	G	G	A	rs148056282		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:122492809G>A	ENST00000261822.4	+	5	744	c.538G>A	c.(538-540)Gca>Aca	p.A180T	BCL7A_ENST00000538010.1_Missense_Mutation_p.A180T	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	180					negative regulation of transcription, DNA-templated (GO:0045892)					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GGGTCTGGCCGCAGAGACGTC	0.567			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(17;197 467 16477 23242 44349)	ENST00000538010.1				Dom	yes		12	12q24.1	605	T	B-cell CLL/lymphoma 7A			L	MYC		BNHL		0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(538-540)Gca>Aca		B-cell CLL/lymphoma 7A		G	THR/ALA,THR/ALA	0,4406		0,0,2203	70.0	77.0	74.0		538,538	0.1	0.0	12	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BCL7A	NM_001024808.1,NM_020993.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	180/211,180/232	122492809	1,13005	2203	4300	6503	SO:0001583	missense	605				negative regulation of transcription, DNA-dependent			g.chr12:122492809G>A	X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.538G>A	12.37:g.122492809G>A	ENSP00000261822:p.Ala180Thr		OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1519	BCL7A_ENST00000261822.4_Missense_Mutation_p.A180T	p.A180T	NM_020993.3	NP_066273.1	Q4VC05	BCL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)	5	3208	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		180					B4DJN6|B7ZB21|Q13843|Q14CT7	Missense_Mutation	SNP	ENST00000261822.4	37	c.538G>A	CCDS53841.1	.	.	.	.	.	.	.	.	.	.	G	0.318	-0.963497	0.02249	0.0	1.16E-4	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.44083	0.93;1.01	6.07	0.0514	0.14297	.	0.533452	0.21468	N	0.074043	T	0.12774	0.0310	N	0.02539	-0.55	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.08055	0.003;0.002	T	0.28299	-1.0048	10	0.08837	T	0.75	.	5.2306	0.15420	0.4794:0.0:0.3844:0.1362	.	180;180	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	T	180	ENSP00000445868:A180T;ENSP00000261822:A180T	ENSP00000261822:A180T	A	+	1	0	BCL7A	120977192	0.318000	0.24598	0.000000	0.03702	0.001000	0.01503	0.660000	0.25009	-0.097000	0.12307	-0.137000	0.14449	GCA		0.567	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1			6	293	0	0	0	1	0	6	293				
HLA-V	352962	broad.mit.edu	37	6	29761774	29761774	+	RNA	SNP	G	G	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr6:29761774G>C	ENST00000457107.1	+	0	1000									major histocompatibility complex, class I, V (pseudogene)																		tcctcagcaggattggtgcaa	0.542																																						ENST00000457107.1																			0																																																			0							g.chr6:29761774G>C	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761774G>C														0	1000	+									RNA	SNP	ENST00000457107.1	37																																																																																						0.542	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		3	35	0	0	0	1	0	3	35				
TACR1	6869	broad.mit.edu	37	2	75425709	75425709	+	Missense_Mutation	SNP	C	C	T	rs199510054		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:75425709C>T	ENST00000305249.5	-	1	1117	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	118					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGATACTGGCGAAGACAGCG	0.498																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.(352-354)Gcc>Acc		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						121.0	112.0	115.0					2																	75425709		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75425709C>T	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.352G>A	2.37:g.75425709C>T	ENSP00000303522:p.Ala118Thr					TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN			1	1117	-			118					A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.352G>A	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001310	0.74818	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.76060	-0.99;-0.99	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.049231	0.85682	D	0.000000	T	0.66684	0.2814	L	0.51914	1.62	0.80722	D	1	P	0.47604	0.898	B	0.39660	0.306	T	0.67225	-0.5724	10	0.37606	T	0.19	.	11.5873	0.50925	0.1776:0.8224:0.0:0.0	.	118	P25103	NK1R_HUMAN	T	118	ENSP00000303522:A118T;ENSP00000386448:A118T	ENSP00000303522:A118T	A	-	1	0	TACR1	75279217	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	4.545000	0.60698	2.798000	0.96311	0.655000	0.94253	GCC		0.498	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		8	351	0	0	0	1	0	8	351				
NPIPB11	728888	broad.mit.edu	37	16	29415043	29415043	+	Silent	SNP	G	G	A	rs62035609		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr16:29415043G>A	ENST00000524087.1	-	2	155	c.81C>T	c.(79-81)caC>caT	p.H27H	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	27						integral component of membrane (GO:0016021)		p.H27H(24)									CTGACTTTACGTGCTGCTGCA	0.577																																						ENST00000524087.1																			24	Substitution - coding silent(24)	p.H27H(24)	endometrium(22)|kidney(2)								c.(79-81)caC>caT		nuclear pore complex interacting protein family, member B11																																				SO:0001819	synonymous_variant	728888							g.chr16:29415043G>A			16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.81C>T	16.37:g.29415043G>A						SNX29P2_ENST00000398878.3_lincRNA	p.H27H							2	155	-									Silent	SNP	ENST00000524087.1	37	c.81C>T																																																																																					0.577	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000374094.1	XM_002343430		3	52	0	0	0	1	0	3	52				
TPTE2	93492	broad.mit.edu	37	13	20006615	20006615	+	Missense_Mutation	SNP	C	C	T	rs140778301	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr13:20006615C>T	ENST00000400230.2	-	16	1264	c.1220G>A	c.(1219-1221)cGt>cAt	p.R407H	TPTE2_ENST00000400103.2_Missense_Mutation_p.R296H|TPTE2_ENST00000382975.4_Missense_Mutation_p.R367H|TPTE2_ENST00000255310.6_Missense_Mutation_p.R330H|TPTE2_ENST00000457266.2_Missense_Mutation_p.R296H|TPTE2_ENST00000390680.2_Missense_Mutation_p.R330H|TPTE2_ENST00000382977.4_Missense_Mutation_p.R407H|TPTE2_ENST00000382978.1_Missense_Mutation_p.R367H			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	407	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCACTTACCACGAATCGAATA	0.393																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1219-1221)cGt>cAt		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405		0,1,2202	30.0	27.0	28.0		887,989,1220	1.4	0.3	13	dbSNP_134	28	0,8594		0,0,4297	no	missense,missense,missense	TPTE2	NM_001141968.1,NM_130785.3,NM_199254.2	29,29,29	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	296/412,330/446,407/523	20006615	1,12999	2203	4297	6500	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20006615C>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1220G>A	13.37:g.20006615C>T	ENSP00000383089:p.Arg407His					TPTE2_ENST00000457266.2_Missense_Mutation_p.R296H|TPTE2_ENST00000255310.6_Missense_Mutation_p.R330H|TPTE2_ENST00000400103.2_Missense_Mutation_p.R296H|TPTE2_ENST00000390680.2_Missense_Mutation_p.R330H|TPTE2_ENST00000382978.1_Missense_Mutation_p.R367H|TPTE2_ENST00000382977.4_Missense_Mutation_p.R407H|TPTE2_ENST00000382975.4_Missense_Mutation_p.R367H	p.R407H			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	16	1264	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	407			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.1220G>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	6.843	0.524841	0.13066	2.27E-4	0.0	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	2.75	1.37	0.22104	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.315610	0.34507	N	0.003913	T	0.55178	0.1904	N	0.00926	-1.1	0.24752	N	0.992974	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.50466	-0.8825	9	.	.	.	-10.6655	6.2562	0.20876	0.0:0.1356:0.0:0.8644	.	296;330;407	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	H	367;296;407;330;330;407;367;296;407;276	ENSP00000372438:R367H;ENSP00000382974:R296H;ENSP00000383089:R407H;ENSP00000255310:R330H;ENSP00000375098:R330H;ENSP00000372437:R407H;ENSP00000372435:R367H;ENSP00000442218:R296H	.	R	-	2	0	TPTE2	18904615	1.000000	0.71417	0.338000	0.25549	0.004000	0.04260	1.617000	0.36943	0.462000	0.27095	-0.687000	0.03738	CGT		0.393	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		4	181	0	0	0	1	0	4	181				
ANKRD36	375248	broad.mit.edu	37	2	97849220	97849220	+	Nonsense_Mutation	SNP	G	G	A	rs182919093	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:97849220G>A	ENST00000461153.2	+	27	2106	c.1862G>A	c.(1861-1863)tGg>tAg	p.W621*	ANKRD36_ENST00000420699.2_Nonsense_Mutation_p.W621*			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	621										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CAATCGGCCTGGAAGGTAGTT	0.289													.|||	3	0.000599042	0.0023	0.0	5008	,	,		18254	0.0		0.0	False		,,,				2504	0.0					ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1861-1863)tGg>tAg		ankyrin repeat domain 36																																				SO:0001587	stop_gained	375248							g.chr2:97849220G>A	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1862G>A	2.37:g.97849220G>A	ENSP00000419530:p.Trp621*					ANKRD36_ENST00000461153.2_Nonsense_Mutation_p.W621*	p.W621*	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			27	2106	+			621					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Nonsense_Mutation	SNP	ENST00000461153.2	37	c.1862G>A	CCDS54379.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	23.6	4.433294	0.83776	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	.	.	.	1.08	-0.315	0.12746	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.8432	0.08923	0.0:0.0:0.4118:0.5882	.	.	.	.	X	621	.	ENSP00000391950:W621X	W	+	2	0	ANKRD36	97212947	0.266000	0.24112	0.075000	0.20258	0.044000	0.14063	-0.052000	0.11865	-0.097000	0.12307	0.184000	0.17185	TGG		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			11	34	0	0	0	1	0	11	34				
SLC10A3	8273	broad.mit.edu	37	X	153717321	153717321	+	5'UTR	SNP	G	G	A	rs375840362		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chrX:153717321G>A	ENST00000393587.4	-	0	222				SLC10A3_ENST00000263512.4_5'UTR|SLC10A3_ENST00000369649.4_5'UTR|UBL4A_ENST00000477777.1_5'Flank|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.R42C|UBL4A_ENST00000369653.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3						response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCTCTGCGGCTTAGGAGA	0.622																																						ENST00000393586.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(124-126)Cgc>Tgc		solute carrier family 10, member 3		G	,,	0,3763		0,0,0,1618,527	23.0	13.0	16.0		,,	2.8	0.0	X		16	1,6646		0,0,1,2410,1826	no	utr-5,utr-5,utr-5	SLC10A3	NM_001142391.1,NM_001142392.1,NM_019848.3	,,	0,0,1,4028,2353	AA,AG,A,GG,G		0.015,0.0,0.0096	,,	,,	153717321	1,10409	2145	4237	6382	SO:0001623	5_prime_UTR_variant	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153717321G>A	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.-42C>T	X.37:g.153717321G>A						SLC10A3_ENST00000393587.4_5'UTR|SLC10A3_ENST00000369649.4_5'UTR|SLC10A3_ENST00000263512.4_5'UTR	p.R42C			P09131	P3_HUMAN			3	221	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		0					Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	37	c.124C>T	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	G	1.040	-0.679211	0.03378	0.0	1.5E-4	ENSG00000126903	ENST00000393586	T	0.11169	2.8	3.73	2.82	0.32997	.	.	.	.	.	T	0.13415	0.0325	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	T	0.20306	-1.0279	6	0.87932	D	0	.	5.778	0.18289	0.1631:0.0:0.8369:0.0	.	.	.	.	C	42	ENSP00000377211:R42C	ENSP00000377211:R42C	R	-	1	0	SLC10A3	153370515	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.007000	0.13174	0.571000	0.29365	0.436000	0.28706	CGC		0.622	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		7	15	0	0	0	1	0	7	15				
CCNA1	8900	broad.mit.edu	37	13	37012789	37012789	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr13:37012789C>T	ENST00000255465.4	+	5	942	c.678C>T	c.(676-678)caC>caT	p.H226H	CCNA1_ENST00000449823.1_Silent_p.H182H|CCNA1_ENST00000440264.1_Silent_p.H182H|CCNA1_ENST00000418263.1_Silent_p.H225H			P78396	CCNA1_HUMAN	cyclin A1	226					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGATAAGGCACAGACCCAAAG	0.418																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(673-675)caC>caT		cyclin A1							88.0	78.0	82.0					13																	37012789		2203	4300	6503	SO:0001819	synonymous_variant	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37012789C>T	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.678C>T	13.37:g.37012789C>T						CCNA1_ENST00000440264.1_Silent_p.H182H|CCNA1_ENST00000255465.4_Silent_p.H226H|CCNA1_ENST00000449823.1_Silent_p.H182H	p.H225H	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	5	1025	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	226					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	c.675C>T	CCDS9357.1																																																																																				0.418	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		41	107	0	0	0	1	0	41	107				
GRIN2B	2904	broad.mit.edu	37	12	13717418	13717418	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:13717418C>T	ENST00000609686.1	-	13	2963	c.2754G>A	c.(2752-2754)ccG>ccA	p.P918P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	918					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.P918P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGGCGCTCTGCGGTGAGCCAT	0.572																																						ENST00000279593.3																			1	Substitution - coding silent(1)	p.P918P(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2752-2754)ccG>ccA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						167.0	156.0	159.0					12																	13717418		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717418C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2754G>A	12.37:g.13717418C>T							p.P918P	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	2963	-			918					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.2754G>A	CCDS8662.1																																																																																				0.572	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			6	634	0	0	0	1	0	6	634				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			8	318	1	0	0.000157383	1	0.0001684	8	318				
HINFP	25988	broad.mit.edu	37	11	119004822	119004822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:119004822C>T	ENST00000350777.2	+	10	1231	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	HINFP_ENST00000527410.1_Silent_p.C410C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	390	Interaction with NPAT.|Required for activation of histone H4 transcription and contributes to DNA- binding.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R390W(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGGCTATATGCGGCTGCAGCT	0.567											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000350777.2																			1	Substitution - Missense(1)	p.R390W(1)	kidney(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1168-1170)Cgg>Tgg		histone H4 transcription factor							58.0	59.0	59.0					11																	119004822		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119004822C>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1168C>T	11.37:g.119004822C>T	ENSP00000318085:p.Arg390Trp		OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	HINFP_ENST00000527410.1_Silent_p.C410C	p.R390W	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			10	1231	+			390			Interaction with NPAT.|Required for activation of histone H4 transcription and contributes to DNA- binding.		B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.1168C>T	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964717	0.74131	.	.	ENSG00000172273	ENST00000350777	T	0.10573	2.86	5.31	2.36	0.29203	.	0.000000	0.85682	D	0.000000	T	0.29458	0.0734	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02646	-1.1129	10	0.87932	D	0	-27.7523	14.9379	0.70970	0.5073:0.4927:0.0:0.0	.	390	Q9BQA5	HINFP_HUMAN	W	390	ENSP00000318085:R390W	ENSP00000318085:R390W	R	+	1	2	HINFP	118510032	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.333000	0.43912	0.360000	0.24265	-0.152000	0.13540	CGG		0.567	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		5	324	0	0	0	1	0	5	324				
TPTE2	93492	broad.mit.edu	37	13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G	rs200244531		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313																																						ENST00000400230.2																			1	Substitution - Missense(1)	p.E43A(1)	kidney(1)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(127-129)gAa>gCa		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							52.0	51.0	51.0					13																	20056679		2201	4299	6500	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056679T>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.128A>C	13.37:g.20056679T>G	ENSP00000383089:p.Glu43Ala					TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A	p.E43A			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	172	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	43					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.128A>C	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	2.387	-0.340821	0.05243	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94931	-3.56;-3.53;-3.47;-3.47;-3.56;-3.53	2.06	0.858	0.19030	.	0.878504	0.09602	U	0.780065	D	0.86159	0.5866	N	0.21448	0.665	0.09310	N	1	B;B	0.28850	0.225;0.0	B;B	0.19946	0.027;0.0	T	0.74598	-0.3612	9	.	.	.	-0.5937	3.8365	0.08896	0.0:0.192:0.0:0.808	.	43;43	A8MX64;Q6XPS3	.;TPTE2_HUMAN	A	43	ENSP00000372438:E43A;ENSP00000382974:E43A;ENSP00000383089:E43A;ENSP00000372437:E43A;ENSP00000372435:E43A;ENSP00000442218:E43A	.	E	-	2	0	TPTE2	18954679	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.422000	0.21296	0.241000	0.21283	0.383000	0.25322	GAA		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		5	264	0	0	0	1	0	5	264				
UNC5D	137970	broad.mit.edu	37	8	35608224	35608224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:35608224C>T	ENST00000404895.2	+	13	2388	c.2060C>T	c.(2059-2061)gCc>gTc	p.A687V	UNC5D_ENST00000453357.2_Missense_Mutation_p.A682V|UNC5D_ENST00000416672.1_Missense_Mutation_p.A692V|UNC5D_ENST00000287272.2_Missense_Mutation_p.A618V|UNC5D_ENST00000449677.1_Missense_Mutation_p.A263V|UNC5D_ENST00000420357.1_Missense_Mutation_p.A620V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	687					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.A682V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAGACTGTGCCGTGAAGCAA	0.502																																						ENST00000287272.2																			1	Substitution - Missense(1)	p.A682V(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1852-1854)gCc>gTc		unc-5 homolog D (C. elegans)							253.0	210.0	225.0					8																	35608224		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608224C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2060C>T	8.37:g.35608224C>T	ENSP00000385143:p.Ala687Val					UNC5D_ENST00000416672.1_Missense_Mutation_p.A692V|UNC5D_ENST00000404895.2_Missense_Mutation_p.A687V|UNC5D_ENST00000449677.1_Missense_Mutation_p.A263V|UNC5D_ENST00000420357.1_Missense_Mutation_p.A620V|UNC5D_ENST00000453357.2_Missense_Mutation_p.A682V	p.A618V			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	12	1873	+			687			ZU5.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1853C>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	35	5.426783	0.96131	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.60299	0.23;0.64;0.63;0.23;0.2;2.1	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	M	0.83483	2.645	0.80722	D	1	D;P;P	0.56035	0.974;0.911;0.914	P;P;B	0.50490	0.638;0.642;0.439	T	0.76817	-0.2819	10	0.87932	D	0	-23.3889	20.2822	0.98520	0.0:1.0:0.0:0.0	.	263;682;687	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	V	687;620;618;692;682;263	ENSP00000385143:A687V;ENSP00000392739:A620V;ENSP00000287272:A618V;ENSP00000412652:A692V;ENSP00000394303:A682V;ENSP00000397211:A263V	ENSP00000287272:A618V	A	+	2	0	UNC5D	35727766	1.000000	0.71417	0.987000	0.45799	0.959000	0.62525	5.359000	0.66074	2.806000	0.96561	0.655000	0.94253	GCC		0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			5	397	0	0	0	1	0	5	397				
ADPRHL2	54936	broad.mit.edu	37	1	36557583	36557583	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:36557583G>A	ENST00000373178.4	+	4	619	c.589G>A	c.(589-591)Gct>Act	p.A197T		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	197						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				GCAGGCCCTGGCTGTGCACCT	0.627																																						ENST00000373178.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8						c.(589-591)Gct>Act		ADP-ribosylhydrolase like 2							67.0	67.0	67.0					1																	36557583		2203	4300	6503	SO:0001583	missense	54936					cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity	g.chr1:36557583G>A	AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.589G>A	1.37:g.36557583G>A	ENSP00000362273:p.Ala197Thr						p.A197T	NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN			4	619	+		Myeloproliferative disorder(586;0.0393)	197					Q53G94|Q6IAB8|Q9BY47	Missense_Mutation	SNP	ENST00000373178.4	37	c.589G>A	CCDS402.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663119	0.96745	.	.	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	T	0.35421	1.31	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.64067	-0.6494	10	0.30854	T	0.27	-11.8061	19.3486	0.94374	0.0:0.0:1.0:0.0	.	197	Q9NX46	ARHL2_HUMAN	T	197;117;43	ENSP00000362273:A197T	ENSP00000362273:A197T	A	+	1	0	ADPRHL2	36330170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.845000	0.99498	2.546000	0.85860	0.655000	0.94253	GCT		0.627	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020199.1	NM_017825		4	168	0	0	0	1	0	4	168				
MAPK13	5603	broad.mit.edu	37	6	36106684	36106684	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr6:36106684G>C	ENST00000211287.4	+	11	1132	c.870G>C	c.(868-870)gaG>gaC	p.E290D	MAPK13_ENST00000373766.5_Missense_Mutation_p.A240P|MAPK13_ENST00000373759.1_3'UTR|Z95152.1_ENST00000408816.1_RNA|MAPK13_ENST00000373761.6_Missense_Mutation_p.E280D	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AGATGCTGGAGCTAGACGTGG	0.667																																						ENST00000211287.4																			0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						c.(868-870)gaG>gaC		mitogen-activated protein kinase 13							43.0	46.0	45.0					6																	36106684		2203	4300	6503	SO:0001583	missense	5603				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	g.chr6:36106684G>C	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.870G>C	6.37:g.36106684G>C	ENSP00000211287:p.Glu290Asp					MAPK13_ENST00000373766.5_Missense_Mutation_p.A240P|MAPK13_ENST00000373761.6_Missense_Mutation_p.E280D|MAPK13_ENST00000373759.1_3'UTR	p.E290D	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN			11	1132	+			290			Protein kinase.		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	c.870G>C	CCDS4818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.12|13.12	2.143296|2.143296	0.37825|0.37825	.|.	.|.	ENSG00000156711|ENSG00000156711	ENST00000373766|ENST00000373761;ENST00000211287;ENST00000373770	T|T;T	0.66995|0.65364	-0.24|-0.15;-0.15	5.25|5.25	3.47|3.47	0.39725|0.39725	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.105229	.|0.41605	.|D	.|0.000844	T|T	0.29684|0.29684	0.0741|0.0741	L|L	0.33245|0.33245	0.995|0.995	0.23632|0.23632	N|N	0.997245|0.997245	.|B	.|0.09022	.|0.002	.|B	.|0.09377	.|0.004	T|T	0.21827|0.21827	-1.0234|-1.0234	7|10	0.72032|0.42905	D|T	0.01|0.14	-45.63|-45.63	11.297|11.297	0.49284|0.49284	0.1481:0.0:0.8519:0.0|0.1481:0.0:0.8519:0.0	.|.	.|290	.|O15264	.|MK13_HUMAN	P|D	240|280;290;235	ENSP00000362871:A240P|ENSP00000362866:E280D;ENSP00000211287:E290D	ENSP00000362871:A240P|ENSP00000211287:E290D	A|E	+|+	1|3	0|2	MAPK13|MAPK13	36214662|36214662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.831000|0.831000	0.47069|0.47069	1.350000|1.350000	0.34010|0.34010	0.605000|0.605000	0.29947|0.29947	0.484000|0.484000	0.47621|0.47621	GCT|GAG		0.667	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			45	111	0	0	0	1	0	45	111				
MMACHC	25974	broad.mit.edu	37	1	45974781	45974781	+	Missense_Mutation	SNP	C	C	A	rs564280688		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:45974781C>A	ENST00000401061.4	+	4	1023	c.743C>A	c.(742-744)cCg>cAg	p.P248Q		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	248					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)	p.P248L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTCCCTCCCCGGACCTTCCC	0.622																																						ENST00000401061.4																			1	Substitution - Missense(1)	p.P248L(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(742-744)cCg>cAg		methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						89.0	100.0	97.0					1																	45974781		1900	4113	6013	SO:0001583	missense	25974						cobalamin binding	g.chr1:45974781C>A		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.743C>A	1.37:g.45974781C>A	ENSP00000383840:p.Pro248Gln						p.P248Q	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN			4	1023	+	Acute lymphoblastic leukemia(166;0.155)		248					Q5T157|Q9BRQ7	Missense_Mutation	SNP	ENST00000401061.4	37	c.743C>A	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	C	8.766	0.924777	0.18056	.	.	ENSG00000132763	ENST00000401061	D	0.95103	-3.61	4.98	-0.315	0.12746	.	2.021430	0.01898	N	0.039021	D	0.86285	0.5896	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.76691	-0.2866	10	0.09338	T	0.73	6.9117	1.9274	0.03320	0.1464:0.4919:0.1292:0.2325	.	248	Q9Y4U1	MMAC_HUMAN	Q	248	ENSP00000383840:P248Q	ENSP00000383840:P248Q	P	+	2	0	MMACHC	45747368	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.003000	0.13083	-0.121000	0.11787	-0.222000	0.12452	CCG		0.622	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506		5	431	1	0	0.248553	1	0.248553	5	431				
IFIT1	3434	broad.mit.edu	37	10	91162577	91162577	+	Missense_Mutation	SNP	C	C	T	rs146515241		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:91162577C>T	ENST00000371804.3	+	2	712	c.545C>T	c.(544-546)gCg>gTg	p.A182V	IFIT1_ENST00000546318.1_Missense_Mutation_p.A151V|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	182					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCTGGGTATGCGATCTCTGCC	0.478																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(451-453)gCg>gTg		interferon-induced protein with tetratricopeptide repeats 1		C	VAL/ALA	0,4406		0,0,2203	128.0	130.0	129.0		545	5.2	1.0	10	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IFIT1	NM_001548.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	182/479	91162577	1,13005	2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162577C>T	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.545C>T	10.37:g.91162577C>T	ENSP00000360869:p.Ala182Val					LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.A182V	p.A151V	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	1739	+			182					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.452C>T	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654381	0.67472	0.0	1.16E-4	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.77229	-1.08;-1.08	5.24	5.24	0.73138	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.128318	0.50627	D	0.000102	D	0.89093	0.6617	M	0.89095	3.005	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	P;P	0.62298	0.9;0.9	D	0.90623	0.4561	10	0.59425	D	0.04	.	18.1674	0.89733	0.0:1.0:0.0:0.0	.	182;182	Q5T7J1;P09914	.;IFIT1_HUMAN	V	182;151	ENSP00000360869:A182V;ENSP00000441968:A151V	ENSP00000360869:A182V	A	+	2	0	IFIT1	91152557	0.999000	0.42202	0.952000	0.39060	0.013000	0.08279	4.613000	0.61176	2.585000	0.87301	0.557000	0.71058	GCG		0.478	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		7	781	0	0	0	1	0	7	781				
LRRC30	339291	broad.mit.edu	37	18	7231664	7231664	+	Silent	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:7231664G>A	ENST00000383467.2	+	1	542	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	176								p.A176A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTTCTTCGCGCACATCCCCA	0.552																																						ENST00000383467.2																			1	Substitution - coding silent(1)	p.A176A(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(526-528)gcG>gcA		leucine rich repeat containing 30							96.0	103.0	100.0					18																	7231664		2112	4226	6338	SO:0001819	synonymous_variant	339291							g.chr18:7231664G>A		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.528G>A	18.37:g.7231664G>A							p.A176A	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	542	+			176						Silent	SNP	ENST00000383467.2	37	c.528G>A	CCDS42409.1																																																																																				0.552	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		5	415	0	0	0	1	0	5	415				
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:164038C>G	ENST00000356521.4	-	5	519		c.e5-1		CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000377447.3_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding (GO:0005524)	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284																																						ENST00000377447.3																			2	Unknown(2)	p.?(2)	lung(2)	kidney(1)|lung(2)|ovary(1)|skin(1)	5						c.e5-1		COBW domain containing 1							44.0	70.0	61.0					9																	164038		1423	2635	4058	SO:0001630	splice_region_variant	55871						ATP binding|protein binding	g.chr9:164038C>G	AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.431-1G>C	9.37:g.164038C>G						CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site				Q9BRT8	CBWD1_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	5	486	-	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)						A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Splice_Site	SNP	ENST00000356521.4	37		CCDS6438.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304448	0.60305	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447;ENST00000431099;ENST00000377347	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6706	0.77270	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBWD1	154038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.833000	0.75334	2.049000	0.60858	0.549000	0.68633	.		0.284	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	NM_018491	Intron	6	840	0	0	0	1	0	6	840				
NUMA1	4926	broad.mit.edu	37	11	71726747	71726747	+	Missense_Mutation	SNP	G	G	A	rs548451727	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:71726747G>A	ENST00000393695.3	-	15	2133	c.1802C>T	c.(1801-1803)gCg>gTg	p.A601V	NUMA1_ENST00000358965.6_Missense_Mutation_p.A601V|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.A601V(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTTGAGAGCCGCATCCCGCTC	0.607			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0	0.0	5008	,	,		20308	0.0		0.0	False		,,,				2504	0.002					ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - Missense(1)	p.A601V(1)	ovary(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(1801-1803)gCg>gTg		nuclear mitotic apparatus protein 1							50.0	49.0	50.0					11																	71726747		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71726747G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1802C>T	11.37:g.71726747G>A	ENSP00000377298:p.Ala601Val		OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1132	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.A601V	p.A601V	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	2133	-			601						Missense_Mutation	SNP	ENST00000393695.3	37	c.1802C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746868	0.30955	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000542977;ENST00000537217	T;T;T;T	0.47528	2.65;2.66;1.44;0.84	6.07	2.94	0.34122	.	1.010270	0.07941	N	0.979168	T	0.30039	0.0752	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.15473	0.005;0.013;0.013;0.013	B;B;B;B	0.13407	0.006;0.009;0.006;0.006	T	0.15009	-1.0452	10	0.40728	T	0.16	.	6.3435	0.21337	0.0709:0.2401:0.5658:0.1233	.	607;85;601;601	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	V	601;601;164;601;601	ENSP00000351851:A601V;ENSP00000377298:A601V;ENSP00000444880:A601V;ENSP00000442936:A601V	ENSP00000351851:A601V	A	-	2	0	NUMA1	71404395	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	0.628000	0.24522	1.543000	0.49345	0.655000	0.94253	GCG		0.607	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			5	223	0	0	0	1	0	5	223				
GFRA1	2674	broad.mit.edu	37	10	118030528	118030528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:118030528C>T	ENST00000355422.6	-	3	690	c.140G>A	c.(139-141)cGc>cAc	p.R47H	GFRA1_ENST00000439649.3_Missense_Mutation_p.R47H|GFRA1_ENST00000490345.1_5'Flank|GFRA1_ENST00000369236.1_Missense_Mutation_p.R47H	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	47					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCTTAGCGTGCGGTACTTGGT	0.637																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(139-141)cGc>cAc		GDNF family receptor alpha 1							71.0	59.0	63.0					10																	118030528		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:118030528C>T	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.140G>A	10.37:g.118030528C>T	ENSP00000347591:p.Arg47His					GFRA1_ENST00000355422.6_Missense_Mutation_p.R47H|GFRA1_ENST00000369236.1_Missense_Mutation_p.R47H	p.R47H	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	3	507	-		Lung NSC(174;0.21)	47					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.140G>A	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	35	5.527077	0.96431	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000369234	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	3.95	3.95	0.45737	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78682	-0.2109	10	0.52906	T	0.07	-20.05	16.2431	0.82426	0.0:1.0:0.0:0.0	.	47;47	P56159;P56159-2	GFRA1_HUMAN;.	H	47	ENSP00000393725:R47H;ENSP00000358239:R47H;ENSP00000347591:R47H;ENSP00000358237:R47H	ENSP00000347591:R47H	R	-	2	0	GFRA1	118020518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.617000	0.83032	2.044000	0.60594	0.549000	0.68633	CGC		0.637	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		7	276	0	0	0	1	0	7	276				
MLLT3	4300	broad.mit.edu	37	9	20414349	20414349	+	Silent	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:20414349G>A	ENST00000380338.4	-	5	781	c.495C>T	c.(493-495)agC>agT	p.S165S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S162S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	165	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctactgctgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(493-495)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414349		1360	3003	4363	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414349G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.495C>T	9.37:g.20414349G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S162S	p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	781	-			165			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.495C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	262	0	0	0	1	0	5	262				
SCARA5	286133	broad.mit.edu	37	8	27737142	27737142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:27737142C>T	ENST00000354914.3	-	8	1780	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	SCARA5_ENST00000380385.2_Missense_Mutation_p.R207H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	432	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCGAGCATGCGGCACACCAC	0.642																																						ENST00000354914.3																			0				central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18						c.(1294-1296)cGc>cAc		scavenger receptor class A, member 5 (putative)							156.0	121.0	133.0					8																	27737142		2203	4300	6503	SO:0001583	missense	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27737142C>T	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1295G>A	8.37:g.27737142C>T	ENSP00000346990:p.Arg432His					SCARA5_ENST00000380385.2_Missense_Mutation_p.R207H	p.R432H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	8	1780	-		Ovarian(32;0.0218)	432			SRCR.		Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	c.1295G>A	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480662	0.63849	.	.	ENSG00000168079	ENST00000354914;ENST00000380385	T;T	0.42900	0.96;0.96	4.87	3.99	0.46301	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.063343	0.64402	N	0.000010	T	0.48804	0.1520	M	0.88241	2.94	0.80722	D	1	B;B	0.25206	0.012;0.12	B;B	0.19946	0.008;0.027	T	0.54417	-0.8297	10	0.66056	D	0.02	.	11.0431	0.47842	0.0:0.907:0.0:0.093	.	207;432	Q6ZMJ2-4;Q6ZMJ2	.;SCAR5_HUMAN	H	432;207	ENSP00000346990:R432H;ENSP00000369746:R207H	ENSP00000346990:R432H	R	-	2	0	SCARA5	27793061	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	4.882000	0.63121	1.170000	0.42753	0.591000	0.81541	CGC		0.642	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		5	276	0	0	0	1	0	5	276				
TMEM87A	25963	broad.mit.edu	37	15	42520944	42520944	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:42520944C>T	ENST00000389834.4	-	13	1470	c.1206G>A	c.(1204-1206)cgG>cgA	p.R402R	TMEM87A_ENST00000448392.1_Silent_p.R341R|RP11-546B15.1_ENST00000563846.1_RNA	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	402						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TGGTGAAATGCCGATACAAAG	0.383																																						ENST00000389834.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1204-1206)cgG>cgA		transmembrane protein 87A							126.0	119.0	121.0					15																	42520944		2203	4299	6502	SO:0001819	synonymous_variant	25963					integral to membrane		g.chr15:42520944C>T	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1206G>A	15.37:g.42520944C>T						TMEM87A_ENST00000448392.1_Silent_p.R341R	p.R402R	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	13	1470	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	402					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Silent	SNP	ENST00000389834.4	37	c.1206G>A	CCDS32205.1																																																																																				0.383	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		5	455	0	0	0	1	0	5	455				
INSC	387755	broad.mit.edu	37	11	15212347	15212347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:15212347G>A	ENST00000379554.3	+	6	867	c.821G>A	c.(820-822)cGc>cAc	p.R274H	INSC_ENST00000424273.1_Missense_Mutation_p.R227H|INSC_ENST00000528567.1_Missense_Mutation_p.R227H|INSC_ENST00000379556.3_Missense_Mutation_p.R227H|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.R227H|INSC_ENST00000530161.1_Missense_Mutation_p.R227H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	274					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.R274H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCCTTGTGCCGCATCATAGCC	0.532																																						ENST00000379554.3																			1	Substitution - Missense(1)	p.R274H(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(820-822)cGc>cAc		inscuteable homolog (Drosophila)							94.0	97.0	96.0					11																	15212347		1927	4143	6070	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15212347G>A	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.821G>A	11.37:g.15212347G>A	ENSP00000368872:p.Arg274His					INSC_ENST00000424273.1_Missense_Mutation_p.R227H|INSC_ENST00000528567.1_Missense_Mutation_p.R227H|INSC_ENST00000530161.1_Missense_Mutation_p.R227H|INSC_ENST00000379556.3_Missense_Mutation_p.R227H|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.R227H	p.R274H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			6	867	+			274					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.821G>A	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979790	0.53827	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.50277	0.76;0.76;0.75;0.76;0.76;0.75	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.046793	0.85682	D	0.000000	T	0.34135	0.0887	N	0.19112	0.55	0.46317	D	0.998986	P;B;B;B	0.34662	0.462;0.107;0.236;0.236	B;B;B;B	0.27608	0.081;0.009;0.039;0.039	T	0.12091	-1.0561	10	0.42905	T	0.14	-28.8201	17.7766	0.88510	0.0:0.0:1.0:0.0	.	262;227;227;274	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	H	274;227;227;262;227;227;227	ENSP00000368872:R274H;ENSP00000368874:R227H;ENSP00000389161:R227H;ENSP00000435022:R227H;ENSP00000436194:R227H;ENSP00000436113:R227H	ENSP00000368872:R274H	R	+	2	0	INSC	15168923	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.592000	0.61027	2.937000	0.99478	0.650000	0.86243	CGC		0.532	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		5	420	0	0	0	1	0	5	420				
DNM1P47	100216544	broad.mit.edu	37	15	102293008	102293008	+	RNA	SNP	A	A	G	rs373885613		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:102293008A>G	ENST00000561463.1	+	0	1054									DNM1 pseudogene 47									p.K171E(1)									GCGTGGGAACAAGAAGACACT	0.582																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.K171E(1)	kidney(1)																																																0							g.chr15:102293008A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293008A>G														0	1054	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.582	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	69	0	0	0	1	0	4	69				
PCDHB3	56132	broad.mit.edu	37	5	140482147	140482147	+	Missense_Mutation	SNP	C	C	G	rs144773246	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:140482147C>G	ENST00000231130.2	+	1	1914	c.1914C>G	c.(1912-1914)caC>caG	p.H638Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	638	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.H638Q(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.697													C|||	5	0.000998403	0.0	0.0014	5008	,	,		16392	0.002		0.0	False		,,,				2504	0.002					ENST00000231130.2																			1	Substitution - Missense(1)	p.H638Q(1)	lung(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1912-1914)caC>caG				C	GLN/HIS	8,3686		0,8,1839	21.0	23.0	22.0		1914	-2.8	0.8	5	dbSNP_134	22	0,7422		0,0,3711	no	missense	PCDHB3	NM_018937.2	24	0,8,5550	GG,GC,CC		0.0,0.2166,0.072	benign	638/797	140482147	8,11108	1847	3711	5558	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482147C>G	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1914C>G	5.37:g.140482147C>G	ENSP00000231130:p.His638Gln						p.H638Q	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1914	+			638			Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1914C>G	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	0.681	-0.798298	0.02841	0.002166	0.0	ENSG00000113205	ENST00000231130	T	0.52526	0.66	4.38	-2.84	0.05751	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20618	0.0496	N	0.10760	0.04	0.23555	N	0.997428	B	0.26672	0.156	B	0.30943	0.122	T	0.32903	-0.9889	9	0.02654	T	1	.	7.9075	0.29771	0.1045:0.1872:0.6227:0.0856	.	638	Q9Y5E6	PCDB3_HUMAN	Q	638	ENSP00000231130:H638Q	ENSP00000231130:H638Q	H	+	3	2	PCDHB3	140462331	0.000000	0.05858	0.777000	0.31699	0.880000	0.50808	-0.407000	0.07178	-0.244000	0.09639	0.556000	0.70494	CAC		0.697	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		5	411	0	0	0	1	0	5	411				
FNDC3B	64778	broad.mit.edu	37	3	172096148	172096148	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr3:172096148G>A	ENST00000336824.4	+	24	3196	c.3097G>A	c.(3097-3099)Gca>Aca	p.A1033T	FNDC3B_ENST00000416957.1_Missense_Mutation_p.A1033T|FNDC3B_ENST00000415807.2_Missense_Mutation_p.A1033T	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1033	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AATCCAGGCAGCAAGCGAGGC	0.483																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(3097-3099)Gca>Aca		fibronectin type III domain containing 3B							88.0	87.0	87.0					3																	172096148		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096148G>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3097G>A	3.37:g.172096148G>A	ENSP00000338523:p.Ala1033Thr					FNDC3B_ENST00000415807.2_Missense_Mutation_p.A1033T|FNDC3B_ENST00000416957.1_Missense_Mutation_p.A1033T	p.A1033T	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	24	3196	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1033			Fibronectin type-III 8.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.3097G>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830279	0.50845	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.57273	0.41;0.41;0.41	5.26	4.37	0.52481	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.215889	0.47852	N	0.000204	T	0.27629	0.0679	N	0.02916	-0.46	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05241	-1.0897	10	0.23302	T	0.38	-5.2768	12.8682	0.57951	0.0801:0.0:0.9199:0.0	.	1033	Q53EP0	FND3B_HUMAN	T	1033	ENSP00000411242:A1033T;ENSP00000338523:A1033T;ENSP00000389094:A1033T	ENSP00000338523:A1033T	A	+	1	0	FNDC3B	173578842	0.862000	0.29867	0.667000	0.29798	0.980000	0.70556	1.874000	0.39568	1.183000	0.42943	0.655000	0.94253	GCA		0.483	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		4	221	0	0	0	1	0	4	221				
SAG	6295	broad.mit.edu	37	2	234238171	234238171	+	Silent	SNP	C	C	A	rs369174962	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:234238171C>A	ENST00000409110.1	+	9	911	c.681C>A	c.(679-681)acC>acA	p.T227T	SAG_ENST00000449594.2_Silent_p.T93T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	227					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCCCTGTGACCGTGACTGTCA	0.438																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(679-681)acC>acA		S-antigen; retina and pineal gland (arrestin)							89.0	89.0	89.0					2																	234238171		1896	4121	6017	SO:0001819	synonymous_variant	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234238171C>A		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.681C>A	2.37:g.234238171C>A						SAG_ENST00000449594.2_Silent_p.T93T	p.T227T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	9	911	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	227					A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	c.681C>A	CCDS46545.1																																																																																				0.438	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		4	144	1	0	0.00909568	1	0.00944891	4	144				
MTOR	2475	broad.mit.edu	37	1	11217239	11217239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:11217239C>T	ENST00000361445.4	-	30	4515	c.4439G>A	c.(4438-4440)cGc>cAc	p.R1480H		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1480	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCAGCGCATGCGGCCCAGCAT	0.532																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(4438-4440)cGc>cAc		mechanistic target of rapamycin (serine/threonine kinase)							192.0	176.0	181.0					1																	11217239		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11217239C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4439G>A	1.37:g.11217239C>T	ENSP00000354558:p.Arg1480His						p.R1480H	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			30	4515	-			1480			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.4439G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577708	0.65878	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.65549	-0.16	5.32	5.32	0.75619	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	L	0.31926	0.97	0.80722	D	1	B	0.13145	0.007	B	0.01281	0.0	T	0.46190	-0.9209	10	0.30854	T	0.27	-1.1882	19.0009	0.92834	0.0:1.0:0.0:0.0	.	1480	P42345	MTOR_HUMAN	H	1480	ENSP00000354558:R1480H	ENSP00000354558:R1480H	R	-	2	0	MTOR	11139826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.414000	0.80117	2.486000	0.83907	0.655000	0.94253	CGC		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		5	416	0	0	0	1	0	5	416				
ZNF99	7652	broad.mit.edu	37	19	22941316	22941316	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:22941316A>C	ENST00000596209.1	-	4	1485	c.1395T>G	c.(1393-1395)ttT>ttG	p.F465L	ZNF99_ENST00000397104.3_Missense_Mutation_p.F374L	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAAGGGCTGAAAAATTGCTAA	0.358																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1120-1122)ttT>ttG		zinc finger protein 99																																				SO:0001583	missense	7652							g.chr19:22941316A>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1395T>G	19.37:g.22941316A>C	ENSP00000472969:p.Phe465Leu					ZNF99_ENST00000596209.1_Missense_Mutation_p.F465L	p.F374L							5	1121	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1122T>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.908376	0.00508	.	.	ENSG00000213973	ENST00000397104	T	0.07021	3.23	1.28	-2.55	0.06288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02649	0.0080	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42749	-0.9433	9	0.11182	T	0.66	.	4.7313	0.12966	0.5088:0.3226:0.1686:0.0	.	374	A8MXY4	ZNF99_HUMAN	L	374	ENSP00000380293:F374L	ENSP00000380293:F374L	F	-	3	2	ZNF99	22733156	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.098000	0.01347	-1.992000	0.00975	-0.630000	0.03990	TTT		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	275	0	0	0	1	0	4	275				
TCF4	6925	broad.mit.edu	37	18	52899813	52899813	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:52899813T>C	ENST00000356073.4	-	17	2187	c.1576A>G	c.(1576-1578)Acg>Gcg	p.T526A	TCF4_ENST00000570177.2_Missense_Mutation_p.T396A|TCF4_ENST00000537856.3_Missense_Mutation_p.T396A|TCF4_ENST00000564999.1_Missense_Mutation_p.T526A|TCF4_ENST00000566279.1_Missense_Mutation_p.T466A|TCF4_ENST00000398339.1_Missense_Mutation_p.T628A|TCF4_ENST00000537578.1_Missense_Mutation_p.T502A|TCF4_ENST00000543082.1_Missense_Mutation_p.T484A|TCF4_ENST00000567880.1_Missense_Mutation_p.T466A|TCF4_ENST00000568740.1_Missense_Mutation_p.T501A|TCF4_ENST00000540999.1_Missense_Mutation_p.T502A|TCF4_ENST00000568673.1_Missense_Mutation_p.T502A|TCF4_ENST00000561831.3_Missense_Mutation_p.T366A|TCF4_ENST00000354452.3_Missense_Mutation_p.T526A|TCF4_ENST00000544241.2_Missense_Mutation_p.T455A|TCF4_ENST00000565018.2_Missense_Mutation_p.T526A|TCF4_ENST00000561992.1_Missense_Mutation_p.T396A|TCF4_ENST00000564403.2_Missense_Mutation_p.T532A|TCF4_ENST00000564228.1_Missense_Mutation_p.T455A|TCF4_ENST00000566286.1_Missense_Mutation_p.T523A|TCF4_ENST00000457482.3_Missense_Mutation_p.T366A|TCF4_ENST00000570287.2_Missense_Mutation_p.T366A	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	526					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|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)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GAAGATTTCGTGTCTTGCAGG	0.453																																						ENST00000354452.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1576-1578)Acg>Gcg		transcription factor 4							147.0	121.0	130.0					18																	52899813		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52899813T>C	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1576A>G	18.37:g.52899813T>C	ENSP00000348374:p.Thr526Ala					TCF4_ENST00000540999.1_Missense_Mutation_p.T502A|TCF4_ENST00000561992.1_Missense_Mutation_p.T396A|TCF4_ENST00000564403.2_Missense_Mutation_p.T532A|TCF4_ENST00000544241.2_Missense_Mutation_p.T455A|TCF4_ENST00000568673.1_Missense_Mutation_p.T502A|TCF4_ENST00000566286.1_Missense_Mutation_p.T523A|TCF4_ENST00000570177.2_Missense_Mutation_p.T396A|TCF4_ENST00000567880.1_Missense_Mutation_p.T466A|TCF4_ENST00000398339.1_Missense_Mutation_p.T628A|TCF4_ENST00000565018.2_Missense_Mutation_p.T526A|TCF4_ENST00000568740.1_Missense_Mutation_p.T501A|TCF4_ENST00000537856.3_Missense_Mutation_p.T396A|TCF4_ENST00000564999.1_Missense_Mutation_p.T526A|TCF4_ENST00000537578.1_Missense_Mutation_p.T502A|TCF4_ENST00000566279.1_Missense_Mutation_p.T466A|TCF4_ENST00000570287.2_Missense_Mutation_p.T366A|TCF4_ENST00000564228.1_Missense_Mutation_p.T455A|TCF4_ENST00000457482.3_Missense_Mutation_p.T366A|TCF4_ENST00000356073.4_Missense_Mutation_p.T526A|TCF4_ENST00000561831.3_Missense_Mutation_p.T366A|TCF4_ENST00000543082.1_Missense_Mutation_p.T484A	p.T526A	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	17	2187	-			526					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1576A>G	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	T	2.304	-0.359529	0.05138	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.16897	2.57;2.31;2.62;2.62;2.62;2.57;2.56;2.37;2.55	5.35	4.18	0.49190	.	0.176553	0.51477	D	0.000093	T	0.05777	0.0151	N	0.03050	-0.425	0.38345	D	0.944171	B;B;B;B;B;B;B;B;B	0.18310	0.0;0.016;0.001;0.027;0.0;0.0;0.001;0.0;0.01	B;B;B;B;B;B;B;B;B	0.23150	0.001;0.015;0.001;0.044;0.0;0.001;0.002;0.0;0.003	T	0.24977	-1.0145	10	0.09590	T	0.72	-5.2262	5.6177	0.17440	0.1509:0.0821:0.0:0.767	.	502;526;366;628;526;484;455;366;523	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	A	526;366;526;484;502;502;455;396;628	ENSP00000346440:T526A;ENSP00000409447:T366A;ENSP00000348374:T526A;ENSP00000439656:T484A;ENSP00000445202:T502A;ENSP00000440731:T502A;ENSP00000441562:T455A;ENSP00000439827:T396A;ENSP00000381382:T628A	ENSP00000346440:T526A	T	-	1	0	TCF4	51050811	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	0.581000	0.23819	0.872000	0.35775	0.383000	0.25322	ACG		0.453	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		113	146	0	0	0	1	0	113	146				
UGT8	7368	broad.mit.edu	37	4	115597336	115597336	+	Silent	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr4:115597336G>A	ENST00000310836.6	+	6	2040	c.1518G>A	c.(1516-1518)ctG>ctA	p.L506L	UGT8_ENST00000394511.3_Silent_p.L506L	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	506					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TCAAAAGTCTGTGGTCTAGAA	0.353																																						ENST00000310836.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1516-1518)ctG>ctA		UDP glycosyltransferase 8							84.0	78.0	80.0					4																	115597336		2203	4300	6503	SO:0001819	synonymous_variant	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115597336G>A	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.1518G>A	4.37:g.115597336G>A						UGT8_ENST00000394511.3_Silent_p.L506L	p.L506L	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	6	2040	+		Ovarian(17;0.156)	506					B3KXU7|O00196	Silent	SNP	ENST00000310836.6	37	c.1518G>A	CCDS3705.1																																																																																				0.353	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		64	302	0	0	0	1	0	64	302				
OR10G7	390265	broad.mit.edu	37	11	123909404	123909404	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:123909404A>G	ENST00000330487.5	-	1	313	c.305T>C	c.(304-306)tTt>tCt	p.F102S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAAGTGGAAAAAATAGAGCTG	0.532																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(304-306)tTt>tCt		olfactory receptor, family 10, subfamily G, member 7							124.0	133.0	130.0					11																	123909404		2200	4299	6499	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909404A>G	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.305T>C	11.37:g.123909404A>G	ENSP00000329689:p.Phe102Ser						p.F102S	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	313	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	102					Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.305T>C	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	A	0.908	-0.719988	0.03182	.	.	ENSG00000182634	ENST00000330487	T	0.00502	6.95	3.39	-2.56	0.06268	GPCR, rhodopsin-like superfamily (1);	1.214850	0.05929	N	0.634898	T	0.00524	0.0017	M	0.64630	1.985	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39165	-0.9627	10	0.41790	T	0.15	.	5.7826	0.18314	0.3487:0.4967:0.1546:0.0	.	102	Q8NGN6	O10G7_HUMAN	S	102	ENSP00000329689:F102S	ENSP00000329689:F102S	F	-	2	0	OR10G7	123414614	0.000000	0.05858	0.311000	0.25182	0.042000	0.13812	0.173000	0.16724	-0.386000	0.07821	-0.666000	0.03841	TTT		0.532	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		63	575	0	0	0	1	0	63	575				
ZSCAN18	65982	broad.mit.edu	37	19	58596116	58596116	+	Missense_Mutation	SNP	G	G	A	rs200742278	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:58596116G>A	ENST00000240727.6	-	7	1868	c.1469C>T	c.(1468-1470)gCg>gTg	p.A490V	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A546V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A490V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A354V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	490					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGACCGCCCGCCCTAGCCCC	0.741													G|||	2	0.000399361	0.0	0.0	5008	,	,		12838	0.002		0.0	False		,,,				2504	0.0					ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(1468-1470)gCg>gTg		zinc finger and SCAN domain containing 18							7.0	8.0	7.0					19																	58596116		2071	4053	6124	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596116G>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1469C>T	19.37:g.58596116G>A	ENSP00000240727:p.Ala490Val					ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A546V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A354V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A490V	p.A490V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1868	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	490					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.1469C>T	CCDS12971.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.994	0.553622	0.13374	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02656	4.47;4.21	3.41	-0.0245	0.13938	.	2.404210	0.02978	N	0.145247	T	0.02455	0.0075	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.45673	-0.9245	10	0.56958	D	0.05	.	7.1996	0.25873	0.5187:0.0:0.4813:0.0	.	546;354;489;490	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	V	546;490;354	ENSP00000240727:A490V;ENSP00000392653:A354V	ENSP00000240727:A490V	A	-	2	0	ZSCAN18	63287928	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.557000	0.05985	-0.070000	0.12908	-0.254000	0.11334	GCG		0.741	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		14	21	0	0	0	1	0	14	21				
DTL	51514	broad.mit.edu	37	1	212209262	212209262	+	Silent	SNP	C	C	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:212209262C>G	ENST00000366991.4	+	1	344	c.30C>G	c.(28-30)ccC>ccG	p.P10P	INTS7_ENST00000440600.2_5'Flank|INTS7_ENST00000366992.3_5'Flank|INTS7_ENST00000366993.3_5'Flank|DTL_ENST00000542077.1_Silent_p.P10P|INTS7_ENST00000469606.1_5'Flank|DTL_ENST00000475419.1_3'UTR|INTS7_ENST00000366994.3_5'Flank	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	10					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCCGCCAGCCCCAGCTTGGCG	0.572																																						ENST00000366991.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(28-30)ccC>ccG		denticleless E3 ubiquitin protein ligase homolog (Drosophila)							63.0	57.0	59.0					1																	212209262		2203	4300	6503	SO:0001819	synonymous_variant	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212209262C>G	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.30C>G	1.37:g.212209262C>G						DTL_ENST00000542077.1_Silent_p.P10P|DTL_ENST00000475419.1_3'UTR	p.P10P	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	1	344	+			10					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Silent	SNP	ENST00000366991.4	37	c.30C>G	CCDS1502.1																																																																																				0.572	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		38	97	0	0	0	1	0	38	97				
INHBB	3625	broad.mit.edu	37	2	121106818	121106818	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:121106818C>T	ENST00000295228.3	+	2	638	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	198					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GCGGAAGGTGCGGGTCAAAGT	0.602																																						ENST00000295228.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15						c.(592-594)Cgg>Tgg		inhibin, beta B							79.0	76.0	77.0					2																	121106818		2203	4300	6503	SO:0001583	missense	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121106818C>T		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.592C>T	2.37:g.121106818C>T	ENSP00000295228:p.Arg198Trp						p.R198W	NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN			2	638	+		Prostate(154;0.122)	198					Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	c.592C>T	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385211	0.61956	.	.	ENSG00000163083	ENST00000295228	T	0.70399	-0.48	4.94	4.94	0.65067	Transforming growth factor-beta, N-terminal (1);	0.087418	0.45867	D	0.000321	T	0.77572	0.4150	L	0.51422	1.61	0.39241	D	0.963859	D	0.76494	0.999	D	0.66979	0.948	T	0.79524	-0.1768	10	0.66056	D	0.02	-6.5689	10.9786	0.47480	0.2877:0.7123:0.0:0.0	.	198	P09529	INHBB_HUMAN	W	198	ENSP00000295228:R198W	ENSP00000295228:R198W	R	+	1	2	INHBB	120823288	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.378000	0.66190	2.728000	0.93425	0.655000	0.94253	CGG		0.602	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			5	274	0	0	0	1	0	5	274				
ASB8	140461	broad.mit.edu	37	12	48543613	48543613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:48543613G>A	ENST00000317697.3	-	4	572	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.R135W	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	135					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						AGGAGAGCCCGCACACACTCA	0.527																																						ENST00000317697.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						c.(403-405)Cgg>Tgg		ankyrin repeat and SOCS box containing 8							74.0	65.0	68.0					12																	48543613		2203	4300	6503	SO:0001583	missense	0				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543613G>A	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.403C>T	12.37:g.48543613G>A	ENSP00000320893:p.Arg135Trp					ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.R135W	p.R135W	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN			4	572	-			135					A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	37	c.403C>T	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777296	0.70107	.	.	ENSG00000177981	ENST00000317697;ENST00000536549	T;T	0.66815	-0.23;-0.23	5.05	3.09	0.35607	Ankyrin repeat-containing domain (4);	0.108843	0.64402	D	0.000011	T	0.78923	0.4360	M	0.86573	2.825	0.80722	D	1	D	0.67145	0.996	P	0.54815	0.761	D	0.84401	0.0560	10	0.87932	D	0	-13.8627	14.1986	0.65686	0.0:0.0:0.7318:0.2682	.	135	Q9H765	ASB8_HUMAN	W	135	ENSP00000320893:R135W;ENSP00000445622:R135W	ENSP00000320893:R135W	R	-	1	2	ASB8	46829880	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.878000	0.56130	1.261000	0.44149	0.561000	0.74099	CGG		0.527	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			4	196	0	0	0	1	0	4	196				
GRHL3	57822	broad.mit.edu	37	1	24669202	24669202	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:24669202C>T	ENST00000350501.5	+	10	1352	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	GRHL3_ENST00000342072.4_Missense_Mutation_p.R316C|GRHL3_ENST00000356046.2_Missense_Mutation_p.R363C|GRHL3_ENST00000361548.4_Missense_Mutation_p.R409C|GRHL3_ENST00000236255.4_Missense_Mutation_p.R414C	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	409					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GAGGAAGATGCGCGATGACGA	0.602																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1225-1227)Cgc>Tgc		grainyhead-like 3 (Drosophila)							89.0	90.0	90.0					1																	24669202		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24669202C>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1225C>T	1.37:g.24669202C>T	ENSP00000288955:p.Arg409Cys					GRHL3_ENST00000342072.4_Missense_Mutation_p.R316C|GRHL3_ENST00000356046.2_Missense_Mutation_p.R363C|GRHL3_ENST00000350501.5_Missense_Mutation_p.R409C|GRHL3_ENST00000236255.4_Missense_Mutation_p.R414C	p.R409C	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	10	1455	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	409					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1225C>T	CCDS252.2	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694695	0.68386	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.963;0.966;0.966	T	0.46233	-0.9206	10	0.87932	D	0	-26.275	10.9458	0.47299	0.2909:0.7091:0.0:0.0	.	363;414;409	A2A297;Q8TE85-2;G3XAF0	.;.;.	C	409;316;409;363;414	ENSP00000354943:R409C;ENSP00000340543:R316C;ENSP00000288955:R409C;ENSP00000348333:R363C;ENSP00000236255:R414C	ENSP00000236255:R414C	R	+	1	0	GRHL3	24541789	0.988000	0.35896	1.000000	0.80357	0.991000	0.79684	0.145000	0.16157	2.585000	0.87301	0.655000	0.94253	CGC		0.602	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		5	305	0	0	0	1	0	5	305				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72664015	72664015	+	RNA	SNP	C	C	G	rs202030378|rs372212945	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr7:72664015C>G	ENST00000425256.1	-	0	885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCC	0.507																																						ENST00000425256.1																			0																																																			0							g.chr7:72664015C>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664015C>G								NR_002164.1						0	885	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		5	78	0	0	0	1	0	5	78				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		76	221	0	0	0	1	0	76	221				
HLA-V	352962	broad.mit.edu	37	6	29761771	29761771	+	RNA	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr6:29761771C>T	ENST00000457107.1	+	0	997									major histocompatibility complex, class I, V (pseudogene)																		acatcctcagcaggattggtg	0.542																																						ENST00000457107.1																			0																																																			0							g.chr6:29761771C>T	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761771C>T														0	997	+									RNA	SNP	ENST00000457107.1	37																																																																																						0.542	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		3	39	0	0	0	1	0	3	39				
KIAA0586	9786	broad.mit.edu	37	14	58915077	58915077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr14:58915077C>T	ENST00000556134.1	+	8	1056	c.782C>T	c.(781-783)gCa>gTa	p.A261V	KIAA0586_ENST00000354386.6_Missense_Mutation_p.A329V|KIAA0586_ENST00000423743.3_Missense_Mutation_p.A232V|KIAA0586_ENST00000261244.5_Missense_Mutation_p.A276V|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	261					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTAGTGCTGCACTCAAGACT	0.328																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(694-696)gCa>gTa		KIAA0586							91.0	84.0	86.0					14																	58915077		1813	4077	5890	SO:0001583	missense	9786							g.chr14:58915077C>T	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.782C>T	14.37:g.58915077C>T	ENSP00000452351:p.Ala261Val					KIAA0586_ENST00000556134.1_Missense_Mutation_p.A261V|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.A276V|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A329V	p.A232V	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			8	953	+			276					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.695C>T	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801789	0.90538	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000555833;ENST00000261244;ENST00000546216	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	T	0.75102	0.3804	M	0.68952	2.095	0.45239	D	0.998243	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.994;0.998;0.998	T	0.77038	-0.2736	10	0.87932	D	0	.	17.3225	0.87239	0.0:1.0:0.0:0.0	.	136;136;329;276;261;232	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	V	329;261;232;191;276;136	ENSP00000346359:A329V;ENSP00000452351:A261V;ENSP00000399427:A232V;ENSP00000450855:A191V;ENSP00000261244:A276V	ENSP00000261244:A276V	A	+	2	0	KIAA0586	57984830	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	4.520000	0.60524	2.696000	0.92011	0.585000	0.79938	GCA		0.328	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		70	105	0	0	0	1	0	70	105				
ITGA2	3673	broad.mit.edu	37	5	52360796	52360796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:52360796C>T	ENST00000296585.5	+	14	1800	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	553					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAAAACACTCGATTTGGTTC	0.423																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1657-1659)Cga>Tga		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							150.0	148.0	149.0					5																	52360796		2203	4300	6503	SO:0001587	stop_gained	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52360796C>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1657C>T	5.37:g.52360796C>T	ENSP00000296585:p.Arg553*						p.R553*	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			14	1800	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	553					Q14595	Nonsense_Mutation	SNP	ENST00000296585.5	37	c.1657C>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	38	6.920610	0.97936	.	.	ENSG00000164171	ENST00000296585	.	.	.	5.67	2.83	0.33086	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0088	0.71533	0.3736:0.6264:0.0:0.0	.	.	.	.	X	553	.	ENSP00000296585:R553X	R	+	1	2	ITGA2	52396553	0.972000	0.33761	0.988000	0.46212	0.995000	0.86356	2.181000	0.42547	0.371000	0.24564	0.655000	0.94253	CGA		0.423	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		135	401	0	0	0	1	0	135	401				
ADCY4	196883	broad.mit.edu	37	14	24802075	24802075	+	Silent	SNP	G	G	A	rs149539471	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr14:24802075G>A	ENST00000310677.4	-	3	392	c.279C>T	c.(277-279)tcC>tcT	p.S93S	ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Silent_p.S93S|ADCY4_ENST00000554068.2_Silent_p.S93S|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.R160W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	93					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATACCAAGCCGGACAGGGGAC	0.716											OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000555591.1																			0											c.(478-480)Cgg>Tgg									15.0	20.0	18.0					14																	24802075		2193	4290	6483	SO:0001819	synonymous_variant	0							g.chr14:24802075G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.279C>T	14.37:g.24802075G>A			OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	ADCY4_ENST00000418030.2_Silent_p.S93S|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000554068.2_Silent_p.S93S|ADCY4_ENST00000310677.4_Silent_p.S93S|ADCY4_ENST00000396747.3_5'UTR	p.R160W							3	477	-								B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.478C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.201359	0.01581	.	.	ENSG00000258973	ENST00000555591	.	.	.	5.76	-11.5	0.00074	.	.	.	.	.	T	0.46737	0.1408	.	.	.	0.52099	D	0.999945	.	.	.	.	.	.	T	0.77670	-0.2501	4	.	.	.	.	8.2616	0.31788	0.2962:0.4587:0.0574:0.1877	.	.	.	.	W	160	.	.	R	-	1	2	RP11-934B9.3	23871915	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-8.878000	0.00016	-9.351000	0.00000	-4.402000	0.00006	CGG		0.716	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			3	45	0	0	0	1	0	3	45				
FAT4	79633	broad.mit.edu	37	4	126372375	126372375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr4:126372375C>T	ENST00000394329.3	+	9	10217	c.10204C>T	c.(10204-10206)Ccc>Tcc	p.P3402S	FAT4_ENST00000335110.5_Missense_Mutation_p.P1700S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3402	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGACCCACCCATTTTTAC	0.458																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10204-10206)Ccc>Tcc		FAT atypical cadherin 4							185.0	176.0	179.0					4																	126372375		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372375C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10204C>T	4.37:g.126372375C>T	ENSP00000377862:p.Pro3402Ser					FAT4_ENST00000335110.5_Missense_Mutation_p.P1700S	p.P3402S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	10217	+			3402			Cadherin 32.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10204C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665933	0.67700	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.84800	-1.9;-1.9	5.14	5.14	0.70334	Cadherin (3);Cadherin-like (1);	0.000000	0.34362	U	0.004026	D	0.95500	0.8538	H	0.97440	4.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.97;0.998	D	0.97250	0.9897	10	0.87932	D	0	.	18.629	0.91352	0.0:1.0:0.0:0.0	.	1700;3402;3402	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	3402;1700	ENSP00000377862:P3402S;ENSP00000335169:P1700S	ENSP00000335169:P1700S	P	+	1	0	FAT4	126591825	1.000000	0.71417	0.944000	0.38274	0.741000	0.42261	7.662000	0.83803	2.392000	0.81423	0.561000	0.74099	CCC		0.458	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		12	616	0	0	0	1	0	12	616				
SLC12A7	10723	broad.mit.edu	37	5	1064314	1064314	+	Missense_Mutation	SNP	C	C	T	rs188889163	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:1064314C>T	ENST00000264930.5	-	19	2534	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	831					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AACGAGTCGACGTTCTTGGCC	0.677													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13721	0.001		0.0	False		,,,				2504	0.0					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2491-2493)Gtc>Atc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	C	ILE/VAL	1,4387	2.1+/-5.4	0,1,2193	37.0	40.0	39.0		2491	-0.3	1.0	5		39	0,8596		0,0,4298	no	missense	SLC12A7	NM_006598.2	29	0,1,6491	TT,TC,CC		0.0,0.0228,0.0077	benign	831/1084	1064314	1,12983	2194	4298	6492	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1064314C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2491G>A	5.37:g.1064314C>T	ENSP00000264930:p.Val831Ile						p.V831I	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		19	2534	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		831					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2491G>A	CCDS34129.1	2|2	9.157509157509158E-4|9.157509157509158E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	0.018|0.018	-1.479004|-1.479004	0.01035|0.01035	2.28E-4|2.28E-4	0.0|0.0	ENSG00000113504|ENSG00000113504	ENST00000513223|ENST00000264930	.|D	.|0.86432	.|-2.12	4.26|4.26	-0.302|-0.302	0.12796|0.12796	.|.	.|0.562347	.|0.17891	.|N	.|0.158521	T|T	0.61324|0.61324	0.2338|0.2338	N|N	0.02286|0.02286	-0.61|-0.61	0.28050|0.28050	N|N	0.933393|0.933393	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.55885|0.55885	-0.8070|-0.8070	5|10	.|0.02654	.|T	.|1	.|.	7.5601|7.5601	0.27847|0.27847	0.0:0.37:0.0:0.63|0.0:0.37:0.0:0.63	.|.	.|831	.|Q9Y666	.|S12A7_HUMAN	H|I	188|831	.|ENSP00000264930:V831I	.|ENSP00000264930:V831I	R|V	-|-	2|1	0|0	SLC12A7|SLC12A7	1117314|1117314	0.943000|0.943000	0.32029|0.32029	0.959000|0.959000	0.39883|0.39883	0.022000|0.022000	0.10575|0.10575	0.148000|0.148000	0.16224|0.16224	0.072000|0.072000	0.16694|0.16694	-0.657000|-0.657000	0.03884|0.03884	CGT|GTC		0.677	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		41	111	0	0	0	1	0	41	111				
ODF2	4957	broad.mit.edu	37	9	131245096	131245096	+	Splice_Site	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:131245096G>A	ENST00000434106.3	+	10	1280	c.917G>A	c.(916-918)cGc>cAc	p.R306H	ODF2_ENST00000604420.1_Splice_Site_p.R306H|ODF2_ENST00000351030.3_Splice_Site_p.R301H|ODF2_ENST00000372791.3_Splice_Site_p.R287H|ODF2_ENST00000546203.1_Splice_Site_p.R287H|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000372814.3_Splice_Site_p.R350H|ODF2_ENST00000393527.3_Splice_Site_p.R282H|ODF2_ENST00000393533.2_Splice_Site_p.R306H|ODF2_ENST00000444119.2_Splice_Site_p.R282H|ODF2_ENST00000448249.3_Splice_Site_p.R225H|ODF2_ENST00000372807.5_Splice_Site_p.R301H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	306					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CTCTCCCAGCGCCTGCTGTTA	0.522																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.e12-1		outer dense fiber of sperm tails 2							66.0	72.0	70.0					9																	131245096		2203	4300	6503	SO:0001630	splice_region_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131245096G>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.916-1G>A	9.37:g.131245096G>A						ODF2_ENST00000448249.3_Splice_Site_p.R225_splice|ODF2_ENST00000434106.2_Splice_Site_p.R306_splice|ODF2_ENST00000393533.2_Splice_Site_p.R306_splice|ODF2_ENST00000444119.2_Splice_Site_p.R282_splice|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000351030.3_Splice_Site_p.R301_splice|ODF2_ENST00000372814.3_Splice_Site_p.R350_splice|ODF2_ENST00000372796.4_Splice_Site_p.R306_splice|ODF2_ENST00000546203.1_Splice_Site_p.R287_splice|ODF2_ENST00000372807.5_Splice_Site_p.R301_splice|ODF2_ENST00000372791.3_Splice_Site_p.R287_splice	p.R282_splice	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			12	1430	+			306					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Splice_Site	SNP	ENST00000434106.3	37	c.843_splice	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854984	0.32791	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;1.87;0.93;0.93;0.93	5.66	2.68	0.31781	.	0.552387	0.21440	N	0.074507	T	0.20333	0.0489	N	0.17474	0.49	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.27316	0.025;0.006;0.115;0.003;0.175;0.066;0.01;0.025;0.024;0.017	B;B;B;B;B;B;B;B;B;B	0.12837	0.002;0.003;0.006;0.002;0.004;0.008;0.004;0.002;0.004;0.003	T	0.05920	-1.0856	10	0.34782	T	0.22	-7.0512	3.5239	0.07752	0.3275:0.0:0.5038:0.1688	.	287;301;225;240;306;350;301;287;306;282	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	H	306;350;301;306;282;225;287;287	ENSP00000377166:R306H;ENSP00000361901:R350H;ENSP00000342581:R301H;ENSP00000361882:R306H;ENSP00000307781:R282H;ENSP00000396687:R225H;ENSP00000437579:R287H;ENSP00000361877:R287H	ENSP00000307781:R282H	R	+	2	0	ODF2	130284917	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	2.513000	0.45494	0.750000	0.32877	0.561000	0.74099	CGC		0.522	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3		Missense_Mutation	4	172	0	0	0	1	0	4	172				
CSF2RB	1439	broad.mit.edu	37	22	37326748	37326748	+	Silent	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr22:37326748G>A	ENST00000403662.3	+	8	1110	c.888G>A	c.(886-888)ggG>ggA	p.G296G	CSF2RB_ENST00000536485.1_Silent_p.G243G|CSF2RB_ENST00000262825.5_Silent_p.G302G|CSF2RB_ENST00000406230.1_Silent_p.G302G			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	296					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGAGGGAGGGGCTCGGCAGCC	0.657																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(904-906)ggG>ggA		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						43.0	40.0	41.0					22																	37326748		2203	4300	6503	SO:0001819	synonymous_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37326748G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.888G>A	22.37:g.37326748G>A						CSF2RB_ENST00000403662.3_Silent_p.G296G|CSF2RB_ENST00000536485.1_Silent_p.G243G|CSF2RB_ENST00000406230.1_Silent_p.G302G	p.G302G	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			8	1123	+			296					Q5JZI1|Q6ICE0	Silent	SNP	ENST00000403662.3	37	c.906G>A	CCDS13936.1																																																																																				0.657	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		43	127	0	0	0	1	0	43	127				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000583206.1_5'Flank	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		8	228	0	0	0	1	0	8	228				
ATRX	546	broad.mit.edu	37	X	76938955	76938955	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chrX:76938955G>A	ENST00000373344.5	-	9	2007	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S560F	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	598					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTAATTGGGGAATTAGAAAG	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1792-1794)tCc>tTc		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						194.0	222.0	213.0					X																	76938955		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938955G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1793C>T	X.37:g.76938955G>A	ENSP00000362441:p.Ser598Phe					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S560F	p.S598F	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2007	-			598					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.1793C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	12.65	2.001168	0.35320	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93019	-3.13;-3.15	5.22	5.22	0.72569	.	0.000000	0.52532	D	0.000066	D	0.95774	0.8625	L	0.53249	1.67	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.78314	0.939;0.991	D	0.96302	0.9222	10	0.72032	D	0.01	-2.9111	17.9679	0.89105	0.0:0.0:1.0:0.0	.	560;598	P46100-4;P46100	.;ATRX_HUMAN	F	598;560	ENSP00000362441:S598F;ENSP00000378967:S560F	ENSP00000362441:S598F	S	-	2	0	ATRX	76825611	1.000000	0.71417	0.987000	0.45799	0.962000	0.63368	4.326000	0.59241	2.177000	0.69029	0.509000	0.49947	TCC		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		493	1378	0	0	0	1	0	493	1378				
HKDC1	80201	broad.mit.edu	37	10	71005968	71005968	+	Missense_Mutation	SNP	C	C	T	rs148723879		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:71005968C>T	ENST00000354624.5	+	8	1142	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	HKDC1_ENST00000395086.2_Missense_Mutation_p.R337W	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	337	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GATCGAAACACGGCACGTGGC	0.572																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1009-1011)Cgg>Tgg		hexokinase domain containing 1		C	TRP/ARG	0,4406		0,0,2203	117.0	100.0	106.0		1009	2.7	0.7	10	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	missense	HKDC1	NM_025130.3	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	337/918	71005968	2,13004	2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71005968C>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1009C>T	10.37:g.71005968C>T	ENSP00000346643:p.Arg337Trp					HKDC1_ENST00000395086.2_Missense_Mutation_p.R337W	p.R337W	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			8	1142	+			337					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1009C>T	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900111	0.52227	0.0	2.33E-4	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.96554	-4.05;-4.05	4.68	2.69	0.31865	Hexokinase, C-terminal (1);	0.498975	0.22141	N	0.064050	D	0.93716	0.7992	M	0.63843	1.955	0.09310	N	1	D	0.69078	0.997	B	0.41917	0.37	D	0.88588	0.3141	10	0.87932	D	0	-9.0294	8.3136	0.32086	0.3743:0.5092:0.1165:0.0	.	337	Q2TB90	HKDC1_HUMAN	W	337	ENSP00000346643:R337W;ENSP00000378521:R337W	ENSP00000346643:R337W	R	+	1	2	HKDC1	70675974	0.065000	0.20965	0.684000	0.30055	0.622000	0.37654	2.558000	0.45879	1.172000	0.42781	0.561000	0.74099	CGG		0.572	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		73	196	0	0	0	1	0	73	196				
KDM4C	23081	broad.mit.edu	37	9	6990510	6990510	+	Missense_Mutation	SNP	C	C	T	rs151291155		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:6990510C>T	ENST00000381309.3	+	12	2337	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	KDM4C_ENST00000536108.1_Missense_Mutation_p.A410V|KDM4C_ENST00000543771.1_Missense_Mutation_p.A591V|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Missense_Mutation_p.A278V|KDM4C_ENST00000381306.3_Missense_Mutation_p.A591V|KDM4C_ENST00000535193.1_Missense_Mutation_p.A613V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	591					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AAGCAGCAGGCGCCAAGTGAT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		13775	0.0		0.001	False		,,,				2504	0.0					ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1771-1773)gCg>gTg		lysine (K)-specific demethylase 4C		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	54.0	46.0	49.0		1772,1772,1838,1772	2.9	0.8	9	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	KDM4C	NM_001146694.1,NM_001146695.1,NM_001146696.1,NM_015061.3	64,64,64,64	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign,benign,benign	591/1048,591/814,613/836,591/1057	6990510	3,13003	2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6990510C>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1772C>T	9.37:g.6990510C>T	ENSP00000370710:p.Ala591Val					KDM4C_ENST00000381306.3_Missense_Mutation_p.A591V|KDM4C_ENST00000543771.1_Missense_Mutation_p.A591V|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000535193.1_Missense_Mutation_p.A613V|KDM4C_ENST00000428870.2_Missense_Mutation_p.A278V|KDM4C_ENST00000536108.1_Missense_Mutation_p.A410V	p.A591V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			12	2337	+			591					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.1772C>T	CCDS6471.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.18	2.159146	0.38119	2.27E-4	2.33E-4	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000536108;ENST00000428870	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	4.8	2.93	0.34026	.	0.294931	0.36703	N	0.002452	T	0.31040	0.0784	L	0.35414	1.06	0.44366	D	0.997269	B;B;B;B	0.29627	0.043;0.252;0.026;0.077	B;B;B;B	0.21151	0.012;0.033;0.013;0.024	T	0.06127	-1.0844	10	0.30078	T	0.28	-39.5448	8.6521	0.34040	0.0:0.8202:0.0:0.1798	.	591;613;591;591	F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;KDM4C_HUMAN;.	V	613;591;591;591;410;278	ENSP00000442382:A613V;ENSP00000445427:A591V;ENSP00000370710:A591V;ENSP00000370707:A591V;ENSP00000440656:A410V;ENSP00000405739:A278V	ENSP00000370707:A591V	A	+	2	0	KDM4C	6980510	0.990000	0.36364	0.839000	0.33178	0.756000	0.42949	2.883000	0.48554	0.600000	0.29862	0.557000	0.71058	GCG		0.408	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		43	73	0	0	0	1	0	43	73				
HABP4	22927	broad.mit.edu	37	9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483																																						ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(577-579)Cgc>Tgc		hyaluronan binding protein 4							101.0	114.0	109.0					9																	99227683		2203	4300	6503	SO:0001583	missense	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99227683C>T	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.577C>T	9.37:g.99227683C>T	ENSP00000364398:p.Arg193Cys					HABP4_ENST00000375251.3_Intron	p.R193C	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			3	652	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	193						Missense_Mutation	SNP	ENST00000375249.4	37	c.577C>T	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837388	0.50951	.	.	ENSG00000130956	ENST00000375249	T	0.37752	1.18	4.86	2.77	0.32553	.	0.269438	0.30538	N	0.009418	T	0.42381	0.1200	L	0.43923	1.385	0.49213	D	0.999769	D	0.71674	0.998	P	0.53185	0.72	T	0.40515	-0.9559	10	0.72032	D	0.01	-7.7391	14.0166	0.64527	0.4686:0.5314:0.0:0.0	.	193	Q5JVS0	HABP4_HUMAN	C	193	ENSP00000364398:R193C	ENSP00000364398:R193C	R	+	1	0	HABP4	98267504	1.000000	0.71417	0.350000	0.25708	0.389000	0.30415	1.202000	0.32271	0.558000	0.29135	0.644000	0.83932	CGC		0.483	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		6	439	0	0	0	1	0	6	439				
ATXN7L2	127002	broad.mit.edu	37	1	110032901	110032901	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:110032901C>T	ENST00000369870.3	+	9	1260	c.1245C>T	c.(1243-1245)acC>acT	p.T415T		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	415										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGTTCTGCACCTTTGGGAGCC	0.597											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(1243-1245)acC>acT		ataxin 7-like 2							104.0	94.0	97.0					1																	110032901		2203	4300	6503	SO:0001819	synonymous_variant	127002							g.chr1:110032901C>T	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1245C>T	1.37:g.110032901C>T			OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1424		p.T415T	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	9	1260	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	415						Silent	SNP	ENST00000369870.3	37	c.1245C>T	CCDS30794.1																																																																																				0.597	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		6	282	0	0	0	1	0	6	282				
SLIT1	6585	broad.mit.edu	37	10	98762035	98762035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:98762035C>T	ENST00000266058.4	-	36	4491	c.4246G>A	c.(4246-4248)Ggg>Agg	p.G1416R	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Intron	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1416					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCCAGGGCCCCGGCCTGGTTG	0.662																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(4246-4248)Ggg>Agg		slit homolog 1 (Drosophila)							13.0	15.0	14.0					10																	98762035		2199	4289	6488	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98762035C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.4246G>A	10.37:g.98762035C>T	ENSP00000266058:p.Gly1416Arg					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Intron	p.G1416R	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	36	4491	-		Colorectal(252;0.162)	1416					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.4246G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	4.285	0.052094	0.08291	.	.	ENSG00000187122	ENST00000266058	T	0.80480	-1.38	4.42	2.57	0.30868	.	0.164002	0.53938	N	0.000048	T	0.58323	0.2114	N	0.04203	-0.255	0.45354	D	0.998344	B	0.06786	0.001	B	0.04013	0.001	T	0.45804	-0.9236	10	0.29301	T	0.29	.	10.0301	0.42096	0.0:0.771:0.0:0.229	.	1416	O75093	SLIT1_HUMAN	R	1416	ENSP00000266058:G1416R	ENSP00000266058:G1416R	G	-	1	0	SLIT1	98752025	0.007000	0.16637	0.178000	0.23040	0.155000	0.21991	0.849000	0.27723	0.499000	0.27970	-0.221000	0.12465	GGG		0.662	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		16	45	0	0	0	1	0	16	45				
AMPD2	271	broad.mit.edu	37	1	110172900	110172900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:110172900G>A	ENST00000256578.3	+	16	2551	c.2191G>A	c.(2191-2193)Gcc>Acc	p.A731T	AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.A650T|AMPD2_ENST00000358729.4_Missense_Mutation_p.A656T|AMPD2_ENST00000528454.1_Missense_Mutation_p.A613T|AMPD2_ENST00000393688.3_Missense_Mutation_p.A612T|AMPD2_ENST00000528667.1_Missense_Mutation_p.A731T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	731					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GATCGGCATCGCCATGTCTCC	0.652																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(2191-2193)Gcc>Acc		adenosine monophosphate deaminase 2							143.0	144.0	144.0					1																	110172900		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110172900G>A	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.2191G>A	1.37:g.110172900G>A	ENSP00000256578:p.Ala731Thr					AMPD2_ENST00000358729.4_Missense_Mutation_p.A656T|AMPD2_ENST00000528667.1_Missense_Mutation_p.A731T|AMPD2_ENST00000528454.1_Missense_Mutation_p.A613T|AMPD2_ENST00000342115.4_Missense_Mutation_p.A650T|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Missense_Mutation_p.A612T	p.A731T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	16	2551	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	731					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.2191G>A	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.324955|5.324955	0.95708|0.95708	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;D;D;D|.	0.83335|.	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Adenosine/AMP deaminase (1);|.	0.102270|.	0.64402|.	D|.	0.000003|.	T|T	0.67344|0.67344	0.2883|0.2883	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.993;0.989;0.999|.	D;P;P;P|.	0.85130|.	0.997;0.739;0.705;0.873|.	T|T	0.66999|0.66999	-0.5781|-0.5781	10|5	0.54805|.	T|.	0.06|.	-24.088|-24.088	17.3347|17.3347	0.87277|0.87277	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	656;612;731;650|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	T|H	650;731;731;656;613;612|701	ENSP00000345498:A650T;ENSP00000436541:A731T;ENSP00000256578:A731T;ENSP00000351573:A656T;ENSP00000437164:A613T;ENSP00000377292:A612T|.	ENSP00000256578:A731T|.	A|R	+|+	1|2	0|0	AMPD2|AMPD2	109974423|109974423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.780000|0.780000	0.44128|0.44128	9.595000|9.595000	0.98260|0.98260	2.424000|2.424000	0.82194|0.82194	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.652	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			6	385	0	0	0	1	0	6	385				
ZNF548	147694	broad.mit.edu	37	19	57910947	57910947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:57910947G>A	ENST00000366197.5	+	3	1542	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	ZNF548_ENST00000336128.7_Missense_Mutation_p.R443H|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAATTCTTTCGTTACAACTCC	0.463																																						ENST00000366197.5																			0				breast(1)	1						c.(1291-1293)cGt>cAt		zinc finger protein 548							56.0	58.0	57.0					19																	57910947		2198	4298	6496	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910947G>A	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1292G>A	19.37:g.57910947G>A	ENSP00000379482:p.Arg431His					AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R443H|AC004076.7_ENST00000597410.1_Intron	p.R431H	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1542	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	431					Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.1292G>A	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188809	0.38609	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.08102	3.13;3.13	2.2	-0.194	0.13240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09113	0.0225	L	0.29908	0.895	0.09310	N	1	D;D	0.71674	0.997;0.998	P;P	0.54759	0.647;0.76	T	0.23619	-1.0183	9	0.56958	D	0.05	.	1.1705	0.01824	0.1298:0.1918:0.2883:0.3902	.	443;431	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	H	443;431	ENSP00000337555:R443H;ENSP00000379482:R431H	ENSP00000337555:R443H	R	+	2	0	ZNF548	62602759	0.000000	0.05858	0.000000	0.03702	0.938000	0.57974	-7.192000	0.00042	0.045000	0.15804	0.563000	0.77884	CGT		0.463	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		7	319	0	0	0	1	0	7	319				
MYO5C	55930	broad.mit.edu	37	15	52536564	52536564	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:52536564C>T	ENST00000261839.7	-	19	2540	c.2379G>A	c.(2377-2379)caG>caA	p.Q793Q	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	793	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCACAGTTTGCTGACCCCGGA	0.527																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2377-2379)caG>caA		myosin VC							62.0	69.0	67.0					15																	52536564		2134	4235	6369	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52536564C>T	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2379G>A	15.37:g.52536564C>T						MYO5C_ENST00000443683.2_3'UTR	p.Q793Q	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	19	2540	-			793			IQ 2.		Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.2379G>A	CCDS42036.1																																																																																				0.527	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		5	367	0	0	0	1	0	5	367				
ALS2	57679	broad.mit.edu	37	2	202589136	202589136	+	Missense_Mutation	SNP	G	G	A	rs149670991		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:202589136G>A	ENST00000264276.6	-	21	3766	c.3394C>T	c.(3394-3396)Cgt>Tgt	p.R1132C	ALS2_ENST00000457679.2_Missense_Mutation_p.R444C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1132					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGACCATGACGCATATTATCT	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18074	0.0		0.0	False		,,,				2504	0.0					ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(3394-3396)Cgt>Tgt		amyotrophic lateral sclerosis 2 (juvenile)							186.0	164.0	171.0					2																	202589136		1901	4131	6032	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202589136G>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3394C>T	2.37:g.202589136G>A	ENSP00000264276:p.Arg1132Cys					ALS2_ENST00000457679.2_Missense_Mutation_p.R444C	p.R1132C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			21	3766	-			1132					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.3394C>T	CCDS42800.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.0	4.792192	0.90453	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.50001	0.76;0.76	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71609	-0.4541	10	0.66056	D	0.02	.	15.0971	0.72244	0.0:0.0:0.8584:0.1416	.	1132;1132	Q6IQ41;Q96Q42	.;ALS2_HUMAN	C	1132;444	ENSP00000264276:R1132C;ENSP00000394823:R444C	ENSP00000264276:R1132C	R	-	1	0	ALS2	202297381	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.305000	0.72805	2.805000	0.96524	0.655000	0.94253	CGT		0.413	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		6	535	0	0	0	1	0	6	535				
ACPT	93650	broad.mit.edu	37	19	51298323	51298323	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:51298323G>A	ENST00000270593.1	+	11	1189	c.1189G>A	c.(1189-1191)Gga>Aga	p.G397R	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_Missense_Mutation_p.G304R	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	397						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTGCTGGCCGGAGCTGTAGC	0.677																																						ENST00000270593.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.(1189-1191)Gga>Aga		acid phosphatase, testicular							17.0	17.0	17.0					19																	51298323		2196	4289	6485	SO:0001583	missense	93650					integral to membrane	acid phosphatase activity	g.chr19:51298323G>A	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.1189G>A	19.37:g.51298323G>A	ENSP00000270593:p.Gly397Arg					ACPT_ENST00000270594.3_Missense_Mutation_p.G304R	p.G397R	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	11	1189	+		all_neural(266;0.057)	397					C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	ENST00000270593.1	37	c.1189G>A	CCDS12802.1	.	.	.	.	.	.	.	.	.	.	g	18.35	3.605092	0.66445	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.13420	2.76;2.59	4.14	4.14	0.48551	.	0.282362	0.27117	N	0.020860	T	0.24198	0.0586	L	0.41824	1.3	0.33730	D	0.618158	D	0.89917	1.0	D	0.68483	0.958	T	0.16660	-1.0395	10	0.25106	T	0.35	-8.8258	12.3028	0.54884	0.0:0.0:1.0:0.0	.	397	Q9BZG2	PPAT_HUMAN	R	397;304	ENSP00000270593:G397R;ENSP00000270594:G304R	ENSP00000270593:G397R	G	+	1	0	ACPT	55990135	0.999000	0.42202	0.983000	0.44433	0.808000	0.45660	4.443000	0.59994	2.037000	0.60232	0.561000	0.74099	GGA		0.677	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		9	32	0	0	0	1	0	9	32				
COL4A1	1282	broad.mit.edu	37	13	110839601	110839601	+	Missense_Mutation	SNP	G	G	A	rs397514624		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr13:110839601G>A	ENST00000375820.4	-	25	1733	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	538	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTGAGCCGCAAGTCGAAA	0.582																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1612-1614)Cgg>Tgg		collagen, type IV, alpha 1							63.0	64.0	63.0					13																	110839601		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110839601G>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1612C>T	13.37:g.110839601G>A	ENSP00000364979:p.Arg538Trp						p.R538W	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		25	1733	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	538			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.1612C>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459838	0.43736	.	.	ENSG00000187498	ENST00000375820	D	0.93426	-3.22	4.66	0.449	0.16619	.	0.490245	0.20718	N	0.086962	D	0.93478	0.7919	M	0.80847	2.515	0.20196	N	0.99992	D	0.65815	0.995	P	0.50378	0.639	D	0.87452	0.2402	10	0.66056	D	0.02	.	9.1624	0.37030	0.0:0.1058:0.2534:0.6408	.	538	P02462	CO4A1_HUMAN	W	538	ENSP00000364979:R538W	ENSP00000364979:R538W	R	-	1	2	COL4A1	109637602	0.001000	0.12720	0.446000	0.26920	0.967000	0.64934	0.785000	0.26830	0.451000	0.26802	0.563000	0.77884	CGG		0.582	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			6	282	0	0	0	1	0	6	282				
MROH6	642475	broad.mit.edu	37	8	144654809	144654809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:144654809C>A	ENST00000398882.3	-	1	332	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	NAPRT1_ENST00000460623.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|MROH6_ENST00000533679.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	26																	CGGATTCCTTCAGTCAGTGCT	0.706																																						ENST00000398882.3																			0											c.(76-78)Gaa>Taa		maestro heat-like repeat family member 6							9.0	11.0	10.0					8																	144654809		1859	4086	5945	SO:0001587	stop_gained	642475							g.chr8:144654809C>A	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.76G>T	8.37:g.144654809C>A	ENSP00000381857:p.Glu26*						p.E26*	NM_001100878.1	NP_001094348.1					1	332	-								A8MWB1	Nonsense_Mutation	SNP	ENST00000398882.3	37	c.76G>T	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	c	22.8	4.339567	0.81911	.	.	ENSG00000204839	ENST00000398882;ENST00000529971	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.9012	13.0708	0.59059	0.0:1.0:0.0:0.0	.	.	.	.	X	26	.	ENSP00000381857:E26X	E	-	1	0	C8orf73	144725952	0.105000	0.21958	0.998000	0.56505	0.327000	0.28475	2.795000	0.47861	2.200000	0.70718	0.558000	0.71614	GAA		0.706	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		3	28	1	0	0.115264	1	0.11746	3	28				
FBXO2	26232	broad.mit.edu	37	1	11710779	11710780	+	In_Frame_Ins	INS	-	-	GCG	rs148874459|rs571719627|rs538764329	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:11710779_11710780insGCG	ENST00000354287.4	-	2	475_476	c.134_135insCGC	c.(133-135)gcg>gcCGCg	p.45_45A>AA	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	45	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.			Missing (in Ref. 1; AAF01822). {ECO:0000305}.	cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CGTCCAGGTACGCGGCGGCGGc	0.757																																						ENST00000354287.4																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(133-135)gta>gCGCta		F-box protein 2																																				SO:0001652	inframe_insertion	26232				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity	g.chr1:11710779_11710780insGCG	AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"""F-boxes /  ""other"""""	13581	protein-coding gene	gene with protein product		607112	"""F-box only protein 2"", ""organ of Corti protein 1"""	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.132_134dupCGC	1.37:g.11710786_11710788dupGCG	ENSP00000346240:p.Ala45dup						p.45_45V>AL	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)	2	475_476	-	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	45	Missing (in Ref. 1; AAF01822).		F-box.		B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	In_Frame_Ins	INS	ENST00000354287.4	37	c.134_135insCGC	CCDS130.1																																																																																				0.757	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005764.1	NM_012168		5	1						5	1	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143210446	143210446	+	lincRNA	DEL	T	T	-	rs530198275|rs376698056	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:143210446delT	ENST00000412204.2	-	0	624				RP11-782C8.1_ENST00000438000.1_lincRNA																							GTCCATATACTAAAAAGGTTA	0.284																																						ENST00000412204.2																			0																																																			0							g.chr1:143210446delT																													1.37:g.143210446delT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	624	-									RNA	DEL	ENST00000412204.2	37																																																																																						0.284	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			7	81						7	81	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G	rs368205479|rs371276355		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												tcgctcacgctggagctgtaga	0.535																																						ENST00000467933.1																			0																																																			0							g.chr1:144043905_144043906insG		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144043907_144043907dupG														0	1108	+									RNA	INS	ENST00000467933.1	37																																																																																						0.535	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		12	93						12	93	---	---	---	---
AMMECR1L	83607	broad.mit.edu	37	2	128627077	128627077	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:128627077delT	ENST00000272647.5	-	6	935	c.675delA	c.(673-675)aaafs	p.K225fs	AMMECR1L_ENST00000393001.1_Frame_Shift_Del_p.K225fs	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	225	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GTTTGACACCTTTTTCATTAA	0.388																																						ENST00000272647.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(673-675)aafs		AMMECR1-like							150.0	133.0	139.0					2																	128627077		2203	4300	6503	SO:0001589	frameshift_variant	83607							g.chr2:128627077delT		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.675delA	2.37:g.128627077delT	ENSP00000272647:p.Lys225fs					AMMECR1L_ENST00000393001.1_Frame_Shift_Del_p.K225fs	p.K225fs	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	6	935	-	Colorectal(110;0.1)		225			AMMECR1.		B4E276	Frame_Shift_Del	DEL	ENST00000272647.5	37	c.675delA	CCDS2152.1																																																																																				0.388	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		7	366						7	366	---	---	---	---
CCDC152	100129792	broad.mit.edu	37	5	42800957	42800959	+	3'UTR	DEL	CTC	CTC	-			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:42800957_42800959delCTC	ENST00000361970.5	+	0	1926_1928				SEPP1_ENST00000509276.1_5'Flank|SEPP1_ENST00000506577.1_In_Frame_Del_p.E337del|SEPP1_ENST00000511224.1_In_Frame_Del_p.E337del|SEPP1_ENST00000507920.1_3'UTR|SEPP1_ENST00000514985.1_In_Frame_Del_p.E337del	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152											endometrium(1)	1						CAGTTATGTTCTCCTCTGCCCGA	0.458																																						ENST00000514985.1																			0				kidney(10)|large_intestine(1)|lung(4)	15						c.(1009-1011)del		selenoprotein P, plasma, 1																																				SO:0001624	3_prime_UTR_variant	6414				response to oxidative stress	extracellular region	selenium binding	g.chr5:42800957_42800959delCTC		CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141	ENST00000361970.5:c.*1076CTC>-	5.37:g.42800960_42800962delCTC						SEPP1_ENST00000506577.1_In_Frame_Del_p.E337del|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000511224.1_In_Frame_Del_p.E337del|SEPP1_ENST00000507920.1_3'UTR	p.E337del	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN			5	1265_1267	-			337					B3KXI4|B4E0P7|Q5BLP6	In_Frame_Del	DEL	ENST00000361970.5	37	c.1009_1011delGAG	CCDS47203.1																																																																																				0.458	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367497.1	XM_001717416		92	187						92	187	---	---	---	---
TIGD6	81789	broad.mit.edu	37	5	149375600	149375600	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:149375600delT	ENST00000296736.3	-	2	1086	c.312delA	c.(310-312)aaafs	p.K104fs	TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	104	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTTTAGTGCTTTTTTCCGAA	0.423																																						ENST00000296736.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10						c.(310-312)aafs		tigger transposable element derived 6							169.0	167.0	168.0					5																	149375600		2203	4300	6503	SO:0001589	frameshift_variant	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149375600delT	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.312delA	5.37:g.149375600delT	ENSP00000296736:p.Lys104fs					TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	1086	-			104			HTH CENPB-type.		B3KTZ8|Q96MQ4|Q9H0X7	Frame_Shift_Del	DEL	ENST00000296736.3	37	c.312delA	CCDS4301.1																																																																																				0.423	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		8	1358						8	1358	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32521545	32521546	+	RNA	INS	-	-	AAGG			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr6:32521545_32521546insAAGG	ENST00000411500.1	-	0	851					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TTGGGGAAAGACTTTATCCAGG	0.436																																						ENST00000411500.1																			0																																																			0							g.chr6:32521545_32521546insAAGG	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521545_32521546insAAGG								NR_001298.1						0	851	-									RNA	INS	ENST00000411500.1	37																																																																																						0.436	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		12	18						12	18	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctctgc>ctc	p.C143del				Q99750	MDFI_HUMAN	MyoD family inhibitor	204					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(412-417)ctc>ct		MyoD family inhibitor																																				SO:0001651	inframe_deletion	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621169_41621171delCTG	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.414_416delCTG	6.37:g.41621178_41621180delCTG	ENSP00000362141:p.Cys143del						p.LC138del			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	601_603	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		199						In_Frame_Del	DEL	ENST00000373050.4	37	c.414_416delCTG																																																																																					0.655	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		7	393						7	393	---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44269188	44269189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr6:44269188_44269189insT	ENST00000244571.4	-	20	2613_2614	c.2611_2612insA	c.(2611-2613)actfs	p.T871fs	AARS2_ENST00000491573.1_5'Flank|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGCTCCTGAGTTTTCTTTGCA	0.584																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2611-2613)tcafs		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)																																			SO:0001589	frameshift_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44269188_44269189insT	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2612dupA	6.37:g.44269192_44269192dupT	ENSP00000244571:p.Thr871fs					TMEM151B_ENST00000438774.2_Intron	p.S871fs	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		20	2613_2614	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		871						Frame_Shift_Ins	INS	ENST00000244571.4	37	c.2611_2612insA	CCDS34464.1																																																																																				0.584	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		7	566						7	566	---	---	---	---
WASL	8976	broad.mit.edu	37	7	123332873	123332875	+	In_Frame_Del	DEL	GGA	GGA	-	rs373297831		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr7:123332873_123332875delGGA	ENST00000223023.4	-	9	1205_1207	c.873_875delTCC	c.(871-876)cctccc>ccc	p.291_292PP>P		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	291	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						gtgtggagggggaggaggaggag	0.567																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(871-876)ccc>cc		Wiskott-Aldrich syndrome-like				46,4176		1,44,2066						-10.8	0.0			50	62,8114		0,62,4026	no	coding	WASL	NM_003941.2		1,106,6092	A1A1,A1R,RR		0.7583,1.0895,0.8711				108,12290				SO:0001651	inframe_deletion	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332873_123332875delGGA	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.873_875delTCC	7.37:g.123332882_123332884delGGA	ENSP00000223023:p.Pro294del						p.PP293del	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			9	1205_1207	-			293			Pro-rich.		A1JUI9|Q7Z746	In_Frame_Del	DEL	ENST00000223023.4	37	c.873_875delTCC	CCDS34743.1																																																																																				0.567	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		9	326						9	326	---	---	---	---
EBAG9	9166	broad.mit.edu	37	8	110573115	110573117	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:110573115_110573117delGAA	ENST00000337573.5	+	6	778_780	c.478_480delGAA	c.(478-480)gaadel	p.E163del	EBAG9_ENST00000531677.1_In_Frame_Del_p.E163del|EBAG9_ENST00000395785.2_In_Frame_Del_p.E163del	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	163	Poly-Glu.				regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CAATGCATGGGAAGAAGAAGAAG	0.394																																						ENST00000337573.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(478-480)del		estrogen receptor binding site associated, antigen, 9			,	12,4252		1,10,2121					,	5.3	1.0			104	29,8225		0,29,4098	no	coding,coding	EBAG9	NM_198120.1,NM_004215.3	,	1,39,6219	A1A1,A1R,RR		0.3513,0.2814,0.3275	,	,		41,12477				SO:0001651	inframe_deletion	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110573115_110573117delGAA	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.478_480delGAA	8.37:g.110573124_110573126delGAA	ENSP00000337675:p.Glu163del					EBAG9_ENST00000531677.1_In_Frame_Del_p.E163del|EBAG9_ENST00000395785.2_In_Frame_Del_p.E163del	p.E163del	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		6	778_780	+			163			Poly-Glu.		A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	In_Frame_Del	DEL	ENST00000337573.5	37	c.478_480delGAA	CCDS6313.1																																																																																				0.394	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		7	227						7	227	---	---	---	---
RPLP0P2	113157	broad.mit.edu	37	11	61405017	61405019	+	RNA	DEL	CTG	CTG	-			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:61405017_61405019delCTG	ENST00000496593.1	+	0	1621_1623					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		acagctgctcctgctgctgctgc	0.557																																						ENST00000496593.1																			0																																																			0							g.chr11:61405017_61405019delCTG	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61405026_61405028delCTG								NR_002775.2						0	1621_1623	+									RNA	DEL	ENST00000496593.1	37																																																																																						0.557	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		7	209						7	209	---	---	---	---
INF2	64423	broad.mit.edu	37	14	105180688	105180689	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr14:105180688_105180689insT	ENST00000392634.4	+	21	3301_3302	c.3189_3190insT	c.(3190-3192)ttgfs	p.L1064fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.L1064fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1064					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCCTGGAGCAGTTGGAGGAGGG	0.663																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(3187-3192)catggafs		inverted formin, FH2 and WH2 domain containing																																				SO:0001589	frameshift_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105180688_105180689insT	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3191dupT	14.37:g.105180690_105180690dupT	ENSP00000376410:p.Leu1064fs					INF2_ENST00000330634.7_Frame_Shift_Ins_p.G1064fs	p.G1064fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	21	3301_3302	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	1064					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Ins	INS	ENST00000392634.4	37	c.3189_3190insT	CCDS9989.2																																																																																				0.663	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		11	34						11	34	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56437602	56437603	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:56437602_56437603insC	ENST00000584437.1	-	7	2814_2815	c.859_860insG	c.(859-861)gtcfs	p.V287fs	RNF43_ENST00000583753.1_Frame_Shift_Ins_p.V246fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.V287fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.V287fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.V160fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.V246fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.V160fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	287					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGGAAATGACCCGTAGCTCC	0.535																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(859-861)catfs		ring finger protein 43																																				SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56437602_56437603insC		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.860dupG	17.37:g.56437605_56437605dupC	ENSP00000463069:p.Val287fs					RNF43_ENST00000500597.2_Frame_Shift_Ins_p.H246fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.H160fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.H246fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.H287fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.H160fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.H287fs	p.H287fs			Q68DV7	RNF43_HUMAN			7	2814_2815	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		287					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Ins	INS	ENST00000584437.1	37	c.859_860insG	CCDS11607.1																																																																																				0.535	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		78	131						78	131	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs199734221		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:112519_112520insA	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCAGCTCCCCCGGGGCCTCCGT	0.53																																						ENST00000576266.1																			0																																																			0							g.chr18:112519_112520insA			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112519_112520insA														0	153_154	+									RNA	INS	ENST00000608049.1	37																																																																																						0.530	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			8	68						8	68	---	---	---	---
MBD1	4152	broad.mit.edu	37	18	47797907	47797914	+	Splice_Site	DEL	GGACCTAG	GGACCTAG	-	rs371943213		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:47797907_47797914delGGACCTAG	ENST00000591416.1	-	16	2210_2213	c.1779_1782delCTAGGTCC	c.(1777-1782)agctag>ag	p.S*593fs	MBD1_ENST00000424334.2_Splice_Site_p.S*644fs|MBD1_ENST00000436910.1_Splice_Site_p.S*524fs|MBD1_ENST00000398495.2_Splice_Site_p.S*554fs|MBD1_ENST00000269468.5_Splice_Site_p.S*593fs|MBD1_ENST00000398488.1_Splice_Site_p.S*491fs|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000347968.3_Splice_Site_p.S*537fs|MBD1_ENST00000457839.2_Splice_Site_p.S*618fs|MBD1_ENST00000591535.1_Splice_Site_p.S*524fs|MBD1_ENST00000353909.3_Splice_Site_p.S*544fs|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000585595.1_Splice_Site_p.S*618fs|MBD1_ENST00000382948.5_Splice_Site_p.S*593fs|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000349085.2_Splice_Site_p.S*491fs|MBD1_ENST00000398493.1_Splice_Site_p.S*537fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	593					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TAAGGTCTTTGGACCTAGGGAAAAGGGA	0.442																																						ENST00000591416.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.e16-1		methyl-CpG binding domain protein 1																																				SO:0001630	splice_region_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47797907_47797914delGGACCTAG	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1779-1CTAGGTCC>-	18.37:g.47797907_47797914delGGACCTAG						MBD1_ENST00000585672.1_Intron|MBD1_ENST00000585595.1_Splice_Site_p.618_splice|MBD1_ENST00000457839.2_Splice_Site_p.618_splice|MBD1_ENST00000436910.1_Splice_Site_p.524_splice|MBD1_ENST00000424334.2_Splice_Site_p.644_splice|MBD1_ENST00000398488.1_Splice_Site_p.491_splice|MBD1_ENST00000398493.1_Splice_Site_p.537_splice|MBD1_ENST00000347968.3_Splice_Site_p.537_splice|MBD1_ENST00000382948.5_Splice_Site_p.593_splice|MBD1_ENST00000353909.3_Splice_Site_p.544_splice|MBD1_ENST00000349085.2_Splice_Site_p.491_splice|MBD1_ENST00000591535.1_Splice_Site_p.524_splice|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000269468.5_Splice_Site_p.593_splice|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000398495.2_Splice_Site_p.554_splice|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000587605.1_Intron	p.593_splice			Q9UIS9	MBD1_HUMAN			16	2210_2213	-			593					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Splice_Site	DEL	ENST00000591416.1	37	c.1778_splice	CCDS11943.1																																																																																				0.442	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846	Frame_Shift_Del	152	380						152	380	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48586256	48586262	+	Frame_Shift_Del	DEL	GCATTCC	GCATTCC	-	rs369088915		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:48586256_48586262delGCATTCC	ENST00000342988.3	+	8	1463_1469	c.925_931delGCATTCC	c.(925-933)gcattccagfs	p.AFQ309fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.AFQ309fs|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	309	SAD.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(3)|p.Q311*(2)|p.F310L(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CAATGAGCTTGCATTCCAGCCTCCCAT	0.329																																						ENST00000342988.3																			42	Whole gene deletion(36)|Unknown(3)|Substitution - Nonsense(2)|Substitution - Missense(1)	p.0?(36)|p.?(3)|p.Q311*(2)|p.F310L(1)	pancreas(27)|large_intestine(4)|breast(4)|stomach(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CI064731	SMAD4	I		c.(925-933)agfs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48586256_48586262delGCATTCC	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.925_931delGCATTCC	18.37:g.48586256_48586262delGCATTCC	ENSP00000341551:p.Ala309fs					SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.AFQ309fs	p.AFQ309fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	8	1463_1469	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	309			SAD.		A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.925_931delGCATTCC	CCDS11950.1																																																																																				0.329	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		62	182						62	182	---	---	---	---
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275|rs199822445|rs201862465|rs6146458|rs200669927	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000593649.1	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gatggcgacagcgag>gag	p.DGDS489del	KANK3_ENST00000330915.3_In_Frame_Del_p.DGDS489del			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717														1760	0.351438	0.4085	0.428	5008	,	,		15278	0.2927		0.2962	False		,,,				2504	0.3374					ENST00000330915.3																			2	Deletion - In frame(2)	p.D489_S492delDGDS(2)	large_intestine(1)|breast(1)	breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(1465-1479)gag>ga		KN motif and ankyrin repeat domains 3				958,2544		287,384,1080						-7.5	0.0		dbSNP_114	6	1402,5766		338,726,2520	no	coding	KANK3	NM_198471.2		625,1110,3600	A1A1,A1R,RR		19.5592,27.3558,22.1181				2360,8310				SO:0001651	inframe_deletion	256949							g.chr19:8398950_8398961delTCGCTGTCGCCA	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1467_1478delTGGCGACAGCGA	19.37:g.8398950_8398961delTCGCTGTCGCCA	ENSP00000470728:p.Asp489_Ser492del					KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del	p.DGDSE489del	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			5	1532_1543	-			489					Q6NZI1|Q6ZQR3|Q8IUV2	In_Frame_Del	DEL	ENST00000593649.1	37	c.1467_1478delTGGCGACAGCGA																																																																																					0.717	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		5	7						5	7	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-	rs199960550		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					ERF_ENST00000440177.2_In_Frame_Del_p.SS296del|AC006486.9_ENST00000594664.1_Intron	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.680	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		10	471						10	471	---	---	---	---
ZNF112	7771	broad.mit.edu	37	19	44832430	44832430	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:44832430delC	ENST00000337401.4	-	5	1986	c.1898delG	c.(1897-1899)ggafs	p.G633fs	ZNF112_ENST00000354340.4_Frame_Shift_Del_p.G627fs|ZNF112_ENST00000536500.1_Frame_Shift_Del_p.G650fs	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	633					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGGTTTTTCTCCAGTGTGGAC	0.453																																						ENST00000354340.4																			0											c.(1879-1881)gafs		zinc finger protein 112							124.0	125.0	125.0					19																	44832430		2203	4300	6503	SO:0001589	frameshift_variant	7665							g.chr19:44832430delC	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1898delG	19.37:g.44832430delC	ENSP00000337081:p.Gly633fs					ZNF112_ENST00000337401.4_Frame_Shift_Del_p.G633fs|ZNF112_ENST00000536500.1_Frame_Shift_Del_p.G650fs	p.G627fs	NM_013380.3	NP_037512.3					4	1931	-								A4FU53|Q9HCA7	Frame_Shift_Del	DEL	ENST00000337401.4	37	c.1880delG	CCDS54276.1																																																																																				0.453	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		7	951						7	951	---	---	---	---
DSTN	11034	broad.mit.edu	37	20	17581488	17581489	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr20:17581488_17581489insT	ENST00000246069.7	+	2	455_456	c.109_110insT	c.(109-111)attfs	p.I37fs	DSTN_ENST00000474024.1_Frame_Shift_Ins_p.I20fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	37	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						GAAGGCTGTCATTTTTTGTCTC	0.386																																						ENST00000246069.6																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(109-111)tttfs		destrin (actin depolymerizing factor)																																				SO:0001589	frameshift_variant	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581488_17581489insT	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.115dupT	20.37:g.17581494_17581494dupT	ENSP00000246069:p.Ile37fs					DSTN_ENST00000543261.1_Frame_Shift_Ins_p.F20fs|DSTN_ENST00000474024.1_3'UTR	p.F37fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			2	455_456	+			37			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Frame_Shift_Ins	INS	ENST00000246069.7	37	c.109_110insT	CCDS13127.1																																																																																				0.386	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		14	368						14	368	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2328)ccaaagfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989771_47989772insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs						p.PK775fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491_2492	-			775					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		9	1471						9	1471	---	---	---	---
