#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
FAT1	2195	broad.mit.edu	37	4	187524178	187524178	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr4:187524178G>C	ENST00000441802.2	-	20	11570	c.11361C>G	c.(11359-11361)tgC>tgG	p.C3787W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3787					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGACAGGTGGGCACCTTCCCT	0.488										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(11359-11361)tgC>tgG		FAT atypical cadherin 1							88.0	88.0	88.0					4																	187524178		1982	4165	6147	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187524178G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11361C>G	4.37:g.187524178G>C	ENSP00000406229:p.Cys3787Trp	HNSCC(5;0.00058)					p.C3787W	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			20	11570	-			3787						Missense_Mutation	SNP	ENST00000441802.2	37	c.11361C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108421	0.37242	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.47177	0.85	5.26	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79070	-0.1954	10	0.87932	D	0	.	14.0218	0.64560	0.0735:0.0:0.9265:0.0	.	3787	Q14517	FAT1_HUMAN	W	3787;3789	ENSP00000406229:C3787W	ENSP00000260147:C3789W	C	-	3	2	FAT1	187761172	1.000000	0.71417	0.997000	0.53966	0.102000	0.19082	2.359000	0.44142	1.336000	0.45506	0.557000	0.71058	TGC		0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		11	29	0	0	0	1	0	11	29				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	21	0	0	0	1	0	3	21				
MPG	4350	broad.mit.edu	37	16	138697	138697	+	IGR	SNP	C	C	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr16:138697C>G	ENST00000219431.4	+	0	1193				NPRL3_ENST00000399951.3_Splice_Site_p.R335T|NPRL3_ENST00000405960.3_5'UTR|Z69720.2_ENST00000601483.1_RNA|NPRL3_ENST00000399953.3_Splice_Site_p.R514T	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTACACCCACCTGGCAAACAT	0.597								Base excision repair (BER), DNA glycosylases																														ENST00000399953.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.e13+1		nitrogen permease regulator-like 3 (S. cerevisiae)							40.0	46.0	44.0					16																	138697		2129	4252	6381	SO:0001628	intergenic_variant	8131						protein binding	g.chr16:138697C>G		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887		16.37:g.138697C>G						NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Splice_Site_p.R335_splice	p.R514_splice	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN			13	1943	-			515					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Splice_Site	SNP	ENST00000219431.4	37	c.1541_splice	CCDS32346.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265202	0.80358	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000399951	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	.	.	.	0.80722	D	1	D	0.54601	0.967	D	0.63597	0.916	T	0.77885	-0.2421	7	.	.	.	-17.7041	18.391	0.90483	0.0:1.0:0.0:0.0	.	515	Q12980	NPRL3_HUMAN	T	514;489;335	.	.	R	-	2	0	NPRL3	78697	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.562000	0.82300	2.591000	0.87537	0.561000	0.74099	AGG		0.597	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			6	8	0	0	0	1	0	6	8				
NUP188	23511	broad.mit.edu	37	9	131747270	131747270	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr9:131747270C>T	ENST00000372577.2	+	20	2074	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	685					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCCTTTCTGCGCTTGATCAC	0.468											OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(2053-2055)Cgc>Tgc		nucleoporin 188kDa							199.0	159.0	173.0					9																	131747270		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131747270C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2053C>T	9.37:g.131747270C>T	ENSP00000361658:p.Arg685Cys		OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1590		p.R685C	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			20	2074	+			685					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.2053C>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655202	0.67472	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.32023	1.47	5.86	5.86	0.93980	.	0.212158	0.46758	D	0.000265	T	0.36963	0.0986	N	0.19112	0.55	0.58432	D	0.999997	B;D	0.76494	0.267;0.999	B;P	0.60886	0.023;0.88	T	0.08785	-1.0705	10	0.48119	T	0.1	-12.4648	14.6354	0.68686	0.1545:0.8455:0.0:0.0	.	18;685	E9PET9;Q5SRE5	.;NU188_HUMAN	C	574;685	ENSP00000361658:R685C	ENSP00000349125:R574C	R	+	1	0	NUP188	130787091	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	3.395000	0.52558	2.777000	0.95525	0.591000	0.81541	CGC		0.468	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			16	45	0	0	0	1	0	16	45				
SDCCAG8	10806	broad.mit.edu	37	1	243480092	243480092	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr1:243480092T>G	ENST00000366541.3	+	9	1083	c.965T>G	c.(964-966)gTa>gGa	p.V322G	SDCCAG8_ENST00000391846.1_Missense_Mutation_p.V322G|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.V279G|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.V177G	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	322	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CTAGTTTCCGTAAGGAGCAGC	0.403																																						ENST00000366541.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(964-966)gTa>gGa		serologically defined colon cancer antigen 8							96.0	92.0	93.0					1																	243480092		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243480092T>G	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.965T>G	1.37:g.243480092T>G	ENSP00000355499:p.Val322Gly					SDCCAG8_ENST00000391846.1_Missense_Mutation_p.V322G|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.V177G|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.V279G	p.V322G	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	9	1083	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	322			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.965T>G	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147290	0.57151	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.63	4.46	0.54185	.	0.370916	0.27946	N	0.017220	T	0.58221	0.2107	M	0.67953	2.075	0.24684	N	0.99335	P;D	0.56968	0.867;0.978	B;P	0.53649	0.408;0.731	T	0.50906	-0.8772	10	0.23891	T	0.37	-3.8718	9.2825	0.37737	0.0:0.0901:0.0:0.9099	.	279;322	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	G	279;322;322;177;102	ENSP00000348137:V279G;ENSP00000375721:V322G;ENSP00000355499:V322G;ENSP00000341260:V177G;ENSP00000410200:V102G	ENSP00000341260:V177G	V	+	2	0	SDCCAG8	241546715	0.732000	0.28121	0.020000	0.16555	0.816000	0.46133	3.452000	0.52971	1.020000	0.39573	0.533000	0.62120	GTA		0.403	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		16	25	0	0	0	1	0	16	25				
SKIL	6498	broad.mit.edu	37	3	170078468	170078468	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr3:170078468T>C	ENST00000458537.3	+	1	1058	c.349T>C	c.(349-351)Tcg>Ccg	p.S117P	SKIL_ENST00000426052.2_Missense_Mutation_p.S97P|SKIL_ENST00000259119.4_Missense_Mutation_p.S117P|SKIL_ENST00000413427.2_Missense_Mutation_p.S117P	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	117					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGAAAGCATGTCGCCTACTGT	0.493																																						ENST00000458537.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(349-351)Tcg>Ccg		SKI-like oncogene							181.0	186.0	184.0					3																	170078468		2203	4300	6503	SO:0001583	missense	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078468T>C	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.349T>C	3.37:g.170078468T>C	ENSP00000415243:p.Ser117Pro					SKIL_ENST00000426052.2_Missense_Mutation_p.S97P|SKIL_ENST00000259119.4_Missense_Mutation_p.S117P|SKIL_ENST00000413427.2_Missense_Mutation_p.S117P	p.S117P	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		1	1058	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		117					A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	c.349T>C	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726127	0.48833	.	.	ENSG00000136603	ENST00000476188;ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D;D	0.91843	-2.7;-2.92;-2.92;-2.89;-2.92	5.88	3.4	0.38934	.	0.147425	0.47852	D	0.000215	D	0.93491	0.7923	L	0.60455	1.87	0.44918	D	0.997935	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91047	0.4875	10	0.32370	T	0.25	-15.2425	7.9904	0.30237	0.1219:0.0665:0.0:0.8116	.	117;117	P12757-3;P12757	.;SKIL_HUMAN	P	117;117;97;117;117	ENSP00000417670:S117P;ENSP00000259119:S117P;ENSP00000406520:S97P;ENSP00000400193:S117P;ENSP00000415243:S117P	ENSP00000259119:S117P	S	+	1	0	SKIL	171561162	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	3.106000	0.50322	1.062000	0.40625	0.472000	0.43445	TCG		0.493	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		42	86	0	0	0	1	0	42	86				
KIAA1217	56243	broad.mit.edu	37	10	24813550	24813550	+	Missense_Mutation	SNP	G	G	A	rs151027148	byFrequency	TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr10:24813550G>A	ENST00000376454.3	+	13	2785	c.2755G>A	c.(2755-2757)Gtc>Atc	p.V919I	KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396446.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V884I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.V602I|KIAA1217_ENST00000376451.2_Missense_Mutation_p.V602I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V884I|KIAA1217_ENST00000376462.1_Missense_Mutation_p.V839I	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	919					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCCCAGCCGTCCCCCAGGA	0.622													G|||	4	0.000798722	0.0008	0.0	5008	,	,		18043	0.003		0.0	False		,,,				2504	0.0					ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(1804-1806)Gtc>Atc		KIAA1217		G	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	46.0	42.0	43.0		2515,2650,2755	-3.5	0.0	10	dbSNP_134	43	0,8600		0,0,4300	yes	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	839/1265,884/1310,919/1944	24813550	1,13005	2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24813550G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2755G>A	10.37:g.24813550G>A	ENSP00000365637:p.Val919Ile					KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396446.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.V602I|KIAA1217_ENST00000376454.3_Missense_Mutation_p.V919I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000376462.1_Missense_Mutation_p.V839I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V884I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V884I	p.V602I			Q5T5P2	SKT_HUMAN			8	2064	+			919					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1804G>A	CCDS31165.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	3.166	-0.171150	0.06421	2.27E-4	0.0	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.27	-3.48	0.04739	.	2.026020	0.02431	N	0.083525	T	0.17789	0.0427	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B	0.15473	0.004;0.013;0.002;0.002;0.007;0.002;0.013;0.001	B;B;B;B;B;B;B;B	0.09377	0.004;0.002;0.002;0.002;0.003;0.002;0.004;0.001	T	0.15122	-1.0448	10	0.33141	T	0.24	.	6.2182	0.20667	0.4404:0.3461:0.2135:0.0	.	884;884;602;602;602;602;919;919	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	I	839;884;884;602;919;884;734;602;602;602;602;602	ENSP00000365645:V839I;ENSP00000365639:V884I;ENSP00000392625:V884I;ENSP00000365637:V919I;ENSP00000365635:V884I;ENSP00000404798:V734I;ENSP00000302343:V602I;ENSP00000379722:V602I;ENSP00000365634:V602I;ENSP00000379723:V602I	ENSP00000302343:V602I	V	+	1	0	KIAA1217	24853556	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.549000	0.06041	-0.252000	0.09528	-0.258000	0.10820	GTC		0.622	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		11	11	0	0	0	1	0	11	11				
KRT27	342574	broad.mit.edu	37	17	38933340	38933340	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr17:38933340G>A	ENST00000301656.3	-	8	1331	c.1291C>T	c.(1291-1293)Cgt>Tgt	p.R431C	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ACTTTGCCACGAGGATCTATC	0.383																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(1291-1293)Cgt>Tgt		keratin 27							118.0	121.0	120.0					17																	38933340		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38933340G>A	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1291C>T	17.37:g.38933340G>A	ENSP00000301656:p.Arg431Cys					KRT27_ENST00000540723.1_5'UTR	p.R431C	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			8	1331	-		Breast(137;0.000812)	431			Tail.			Missense_Mutation	SNP	ENST00000301656.3	37	c.1291C>T	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376407	0.42105	.	.	ENSG00000171446	ENST00000301656	D	0.83335	-1.71	5.66	4.67	0.58626	.	0.090866	0.49305	D	0.000143	T	0.77961	0.4209	L	0.59436	1.845	0.45962	D	0.998784	B	0.11235	0.004	B	0.08055	0.003	T	0.74321	-0.3703	10	0.52906	T	0.07	.	8.642	0.33983	0.0843:0.1564:0.7593:0.0	.	431	Q7Z3Y8	K1C27_HUMAN	C	431	ENSP00000301656:R431C	ENSP00000301656:R431C	R	-	1	0	KRT27	36186866	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	2.510000	0.45468	2.815000	0.96918	0.650000	0.86243	CGT		0.383	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		26	26	0	0	0	1	0	26	26				
SGOL2	151246	broad.mit.edu	37	2	201435848	201435848	+	Missense_Mutation	SNP	G	G	A	rs372665931		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:201435848G>A	ENST00000357799.4	+	7	877	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	260					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TCTATTGGCCGCAGATGGGAG	0.428																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(778-780)cGc>cAc		shugoshin-like 2 (S. pombe)		A	HIS/ARG,HIS/ARG,HIS/ARG	1,3699		0,1,1849	96.0	88.0	90.0		779,779,779	1.5	0.0	2		90	0,8176		0,0,4088	no	missense,missense,missense	SGOL2	NM_001160033.1,NM_001160046.1,NM_152524.5	29,29,29	0,1,5937	AA,AG,GG		0.0,0.027,0.0084	benign,benign,benign	260/1261,260/1262,260/1266	201435848	1,11875	1850	4088	5938	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201435848G>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.779G>A	2.37:g.201435848G>A	ENSP00000350447:p.Arg260His						p.R260H	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	877	+			260					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.779G>A	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.929213	0.00493	2.7E-4	0.0	ENSG00000163535	ENST00000357799	T	0.12039	2.72	5.34	1.54	0.23209	.	0.861914	0.10322	N	0.688648	T	0.02267	0.0070	N	0.00347	-1.61	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41893	-0.9483	10	0.05959	T	0.93	3.0775	1.4786	0.02432	0.3512:0.2444:0.0774:0.327	.	260;260;260	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	H	260	ENSP00000350447:R260H	ENSP00000350447:R260H	R	+	2	0	SGOL2	201144093	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.049000	0.11924	-0.111000	0.12001	-0.269000	0.10298	CGC		0.428	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		3	48	0	0	0	1	0	3	48				
GALNT11	63917	broad.mit.edu	37	7	151791479	151791479	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr7:151791479A>G	ENST00000434507.1	+	4	604	c.167A>G	c.(166-168)tAt>tGt	p.Y56C	GALNT11_ENST00000422997.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000415421.1_Missense_Mutation_p.Y56C|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000430044.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000320311.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000452146.2_Intron			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	56					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AAAAAATTCTATCCCCGTTTC	0.463																																						ENST00000434507.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27						c.(166-168)tAt>tGt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)							95.0	98.0	97.0					7																	151791479		2203	4300	6503	SO:0001583	missense	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151791479A>G	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.167A>G	7.37:g.151791479A>G	ENSP00000416787:p.Tyr56Cys					GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000430044.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000415421.1_Missense_Mutation_p.Y56C|GALNT11_ENST00000320311.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000422997.2_Missense_Mutation_p.Y56C	p.Y56C			Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	4	604	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	56					B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	c.167A>G	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.915255	0.73098	.	.	ENSG00000178234	ENST00000430044;ENST00000431668;ENST00000446096;ENST00000443352;ENST00000423337;ENST00000434507;ENST00000415421;ENST00000320311;ENST00000419245;ENST00000447796;ENST00000422997	D;D;D;D;D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.66	5.66	0.87406	.	1.254820	0.05350	N	0.531657	D	0.94561	0.8248	M	0.71581	2.175	0.43214	D	0.99508	D;P	0.76494	0.999;0.943	D;P	0.65443	0.935;0.525	D	0.86419	0.1753	10	0.46703	T	0.11	.	15.9039	0.79403	1.0:0.0:0.0:0.0	.	56;56	Q8NCW6-2;Q8NCW6	.;GLT11_HUMAN	C	56	ENSP00000395122:Y56C;ENSP00000395020:Y56C;ENSP00000414890:Y56C;ENSP00000393892:Y56C;ENSP00000416787:Y56C;ENSP00000410093:Y56C;ENSP00000315835:Y56C;ENSP00000397581:Y56C;ENSP00000412142:Y56C;ENSP00000389449:Y56C	ENSP00000315835:Y56C	Y	+	2	0	GALNT11	151422412	1.000000	0.71417	0.992000	0.48379	0.777000	0.43975	5.614000	0.67695	2.158000	0.67659	0.460000	0.39030	TAT		0.463	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		29	62	0	0	0	1	0	29	62				
ZNF667	63934	broad.mit.edu	37	19	56953812	56953812	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr19:56953812G>C	ENST00000504904.3	-	7	1271	c.552C>G	c.(550-552)atC>atG	p.I184M	ZNF667_ENST00000342634.3_Missense_Mutation_p.I312M|ZNF667_ENST00000292069.6_Missense_Mutation_p.I184M|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	184					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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGATGGATGAGATCTGTCTGA	0.373																																						ENST00000504904.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(550-552)atC>atG		zinc finger protein 667							124.0	127.0	126.0					19																	56953812		2202	4300	6502	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953812G>C		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.552C>G	19.37:g.56953812G>C	ENSP00000439402:p.Ile184Met					ZNF667_ENST00000342634.3_Missense_Mutation_p.I312M|ZNF667_ENST00000292069.6_Missense_Mutation_p.I184M|ZNF667_ENST00000591790.1_3'UTR	p.I184M			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	7	1271	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	184					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.552C>G	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	G	0.828	-0.746396	0.03065	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000360227	T;T;T	0.39787	1.06;1.06;1.06	4.98	2.8	0.32819	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.153645	0.30630	N	0.009202	T	0.20210	0.0486	N	0.10972	0.075	0.09310	N	1	P;P	0.45283	0.855;0.697	B;B	0.39027	0.288;0.157	T	0.06862	-1.0803	10	0.40728	T	0.16	-5.1082	6.863	0.24077	0.0948:0.1761:0.7291:0.0	.	312;184	E7EPS0;Q5HYK9	.;ZN667_HUMAN	M	312;184;184;58	ENSP00000344699:I312M;ENSP00000439402:I184M;ENSP00000292069:I184M	ENSP00000292069:I184M	I	-	3	3	ZNF667	61645624	0.000000	0.05858	0.019000	0.16419	0.012000	0.07955	-0.004000	0.12878	0.662000	0.31006	-0.282000	0.10007	ATC		0.373	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		3	38	0	0	0	1	0	3	38				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	43	0	0	0	1	0	23	43				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	1	0	0	0	1	0	13	1				
SLC8A1	6546	broad.mit.edu	37	2	40656574	40656574	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:40656574G>C	ENST00000403092.1	-	2	880	c.847C>G	c.(847-849)Cca>Gca	p.P283A	SLC8A1_ENST00000408028.2_Missense_Mutation_p.P283A|SLC8A1_ENST00000332839.4_Missense_Mutation_p.P283A|SLC8A1_ENST00000406391.2_Missense_Mutation_p.P283A|SLC8A1_ENST00000542756.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000405901.3_Missense_Mutation_p.P283A|SLC8A1_ENST00000542024.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000402441.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000405269.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000406785.2_Missense_Mutation_p.P283A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	283					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTAGAAGATGGCCTGTCTCCT	0.443																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(847-849)Cca>Gca		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						191.0	193.0	192.0					2																	40656574		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656574G>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.847C>G	2.37:g.40656574G>C	ENSP00000384763:p.Pro283Ala					SLC8A1_ENST00000542756.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000405269.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000402441.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000405901.3_Missense_Mutation_p.P283A|SLC8A1_ENST00000403092.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000332839.4_Missense_Mutation_p.P283A|SLC8A1_ENST00000408028.2_Missense_Mutation_p.P283A|SLC8A1_ENST00000542024.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000406391.2_Missense_Mutation_p.P283A	p.P283A			P32418	NAC1_HUMAN			2	1036	-			283					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.847C>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099882	0.37048	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.26957	1.71;1.73;1.73;1.73;1.71;1.71;1.73;1.7;1.71;1.72	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.43152	1.355	0.80722	D	1	D;D;B;B;B	0.71674	0.971;0.998;0.091;0.034;0.02	D;D;B;B;B	0.85130	0.929;0.997;0.158;0.024;0.079	T	0.03202	-1.1061	10	0.16420	T	0.52	.	17.9158	0.88950	0.0:0.0:1.0:0.0	.	283;283;283;283;283	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	A	283	ENSP00000383886:P283A;ENSP00000440727:P283A;ENSP00000384763:P283A;ENSP00000385678:P283A;ENSP00000385188:P283A;ENSP00000385535:P283A;ENSP00000332931:P283A;ENSP00000384908:P283A;ENSP00000385811:P283A;ENSP00000443515:P283A	ENSP00000332931:P283A	P	-	1	0	SLC8A1	40510078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.423000	0.97461	2.832000	0.97577	0.655000	0.94253	CCA		0.443	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		66	86	0	0	0	1	0	66	86				
ANLN	54443	broad.mit.edu	37	7	36462337	36462337	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr7:36462337C>T	ENST00000265748.2	+	14	2616	c.2395C>T	c.(2395-2397)Cca>Tca	p.P799S	ANLN_ENST00000396068.2_Missense_Mutation_p.P762S	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	799	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGAATTTATGCCATCCAAAGG	0.403																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(2395-2397)Cca>Tca		anillin, actin binding protein							194.0	192.0	193.0					7																	36462337		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36462337C>T	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2395C>T	7.37:g.36462337C>T	ENSP00000265748:p.Pro799Ser					ANLN_ENST00000396068.2_Missense_Mutation_p.P762S	p.P799S	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			14	2616	+			799			Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.2395C>T	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517237	0.64634	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.51817	0.69;0.69	5.96	3.07	0.35406	.	0.149278	0.64402	D	0.000009	T	0.66733	0.2819	M	0.65498	2.005	0.46298	D	0.998974	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.97110	1.0;0.958;0.929;0.958	T	0.69347	-0.5169	10	0.62326	D	0.03	-6.3867	16.3722	0.83368	0.0:0.6273:0.3727:0.0	.	676;761;762;799	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	S	799;762	ENSP00000265748:P799S;ENSP00000379380:P762S	ENSP00000265748:P799S	P	+	1	0	ANLN	36428862	0.954000	0.32549	0.980000	0.43619	0.776000	0.43924	2.120000	0.41968	0.359000	0.24239	0.585000	0.79938	CCA		0.403	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		5	114	0	0	0	1	0	5	114				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	12	0	0	0	1	0	4	12				
TGM5	9333	broad.mit.edu	37	15	43545071	43545071	+	Missense_Mutation	SNP	C	C	T	rs113766373		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr15:43545071C>T	ENST00000220420.5	-	6	755	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	TGM5_ENST00000349114.4_Missense_Mutation_p.A168T	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	250					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCAGGGTTGGCGCCGTCTGTG	0.547																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(748-750)Gcc>Acc		transglutaminase 5	L-Glutamine(DB00130)						84.0	74.0	77.0					15																	43545071		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43545071C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.748G>A	15.37:g.43545071C>T	ENSP00000220420:p.Ala250Thr					TGM5_ENST00000349114.4_Missense_Mutation_p.A168T	p.A250T	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	755	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	250					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.748G>A	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	1.823	-0.471774	0.04445	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.88741	-2.42;-2.42	4.64	-2.06	0.07298	.	0.859290	0.10232	N	0.699506	T	0.56761	0.2007	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.58781	-0.7576	10	0.07990	T	0.79	-0.7873	5.64	0.17559	0.0:0.4178:0.1428:0.4394	.	168;250	O43548-2;O43548	.;TGM5_HUMAN	T	250;168;249	ENSP00000220420:A250T;ENSP00000220419:A168T	ENSP00000220420:A250T	A	-	1	0	TGM5	41332363	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-0.449000	0.06812	-0.270000	0.09285	-0.291000	0.09656	GCC		0.547	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		27	24	0	0	0	1	0	27	24				
SGOL2	151246	broad.mit.edu	37	2	201437991	201437991	+	Silent	SNP	T	T	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:201437991T>C	ENST00000357799.4	+	7	3020	c.2922T>C	c.(2920-2922)gaT>gaC	p.D974D		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	974					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAGTTGTGATCAAATTTTAG	0.284																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2920-2922)gaT>gaC		shugoshin-like 2 (S. pombe)							41.0	40.0	40.0					2																	201437991		1820	4068	5888	SO:0001819	synonymous_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437991T>C	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2922T>C	2.37:g.201437991T>C							p.D974D	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	3020	+			974					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	37	c.2922T>C	CCDS42796.1																																																																																				0.284	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		4	53	0	0	0	1	0	4	53				
OR2C3	81472	broad.mit.edu	37	1	247695157	247695157	+	Silent	SNP	G	G	A	rs570164676		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr1:247695157G>A	ENST00000366487.3	-	2	1018	c.657C>T	c.(655-657)taC>taT	p.Y219Y	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-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)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAATGTGGCCGTAAGAGACCA	0.542																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(655-657)taC>taT		olfactory receptor, family 2, subfamily C, member 3							88.0	86.0	87.0					1																	247695157		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695157G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.657C>T	1.37:g.247695157G>A						GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron	p.Y219Y	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1018	-	all_cancers(71;4.51e-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)	all_cancers(173;0.0242)	219					Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.657C>T	CCDS1634.2																																																																																				0.542	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		15	14	0	0	0	1	0	15	14				
HCCS	3052	broad.mit.edu	37	X	11139866	11139866	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chrX:11139866C>T	ENST00000321143.4	+	7	945	c.743C>T	c.(742-744)gCc>gTc	p.A248V	ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380762.4_Missense_Mutation_p.A248V|HCCS_ENST00000380763.3_Missense_Mutation_p.A248V	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	248					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						GTCCGTCCTGCCTTAGATTCA	0.428																																					Ovarian(86;1338 1347 1462 10340 37882)	ENST00000321143.4																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(742-744)gCc>gTc		holocytochrome c synthase							137.0	108.0	118.0					X																	11139866		2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11139866C>T		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.743C>T	X.37:g.11139866C>T	ENSP00000326579:p.Ala248Val					ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380763.3_Missense_Mutation_p.A248V|HCCS_ENST00000380762.4_Missense_Mutation_p.A248V	p.A248V	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN			7	945	+			248					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.743C>T	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542434	0.85917	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.84589	-1.87;-1.87;-1.87	5.84	4.97	0.65823	.	0.047897	0.85682	D	0.000000	D	0.94551	0.8245	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95442	0.8526	10	0.87932	D	0	-18.2816	13.0008	0.58673	0.1622:0.8378:0.0:0.0	.	248	P53701	CCHL_HUMAN	V	248	ENSP00000326579:A248V;ENSP00000370140:A248V;ENSP00000370139:A248V	ENSP00000326579:A248V	A	+	2	0	HCCS	11049787	1.000000	0.71417	0.008000	0.14137	0.923000	0.55619	7.306000	0.78905	1.199000	0.43173	0.600000	0.82982	GCC		0.428	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			12	15	0	0	0	1	0	12	15				
ZNF335	63925	broad.mit.edu	37	20	44577646	44577646	+	Silent	SNP	T	T	C	rs565844838		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr20:44577646T>C	ENST00000322927.2	-	28	4075	c.3975A>G	c.(3973-3975)caA>caG	p.Q1325Q	ZNF335_ENST00000426788.1_Silent_p.Q1170Q	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1325	Gln-rich.				brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCTGCAGCTGTTGAATGTGTT	0.602													T|||	1	0.000199681	0.0	0.0	5008	,	,		22029	0.0		0.0	False		,,,				2504	0.001					ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(3973-3975)caA>caG		zinc finger protein 335							93.0	81.0	85.0					20																	44577646		2203	4300	6503	SO:0001819	synonymous_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44577646T>C	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3975A>G	20.37:g.44577646T>C						ZNF335_ENST00000426788.1_Silent_p.Q1170Q	p.Q1325Q	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			28	4075	-		Myeloproliferative disorder(115;0.0122)	1325			Gln-rich.		B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	37	c.3975A>G	CCDS13389.1																																																																																				0.602	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		10	12	0	0	0	1	0	10	12				
TLR7	51284	broad.mit.edu	37	X	12905884	12905884	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chrX:12905884G>C	ENST00000380659.3	+	3	2396	c.2257G>C	c.(2257-2259)Gat>Cat	p.D753H		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	753					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GCGATATCTGGATCTCAGCTC	0.388																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(2257-2259)Gat>Cat		toll-like receptor 7	Imiquimod(DB00724)						68.0	66.0	67.0					X																	12905884		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905884G>C	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2257G>C	X.37:g.12905884G>C	ENSP00000370034:p.Asp753His						p.D753H	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	2396	+			753					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.2257G>C	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697499	0.48307	.	.	ENSG00000196664	ENST00000380659	T	0.81247	-1.47	5.66	5.66	0.87406	.	0.116787	0.56097	D	0.000037	D	0.87696	0.6242	L	0.55103	1.725	0.80722	D	1	D	0.65815	0.995	D	0.68039	0.955	D	0.88597	0.3147	10	0.87932	D	0	.	18.782	0.91937	0.0:0.0:1.0:0.0	.	753	Q9NYK1	TLR7_HUMAN	H	753	ENSP00000370034:D753H	ENSP00000370034:D753H	D	+	1	0	TLR7	12815805	1.000000	0.71417	0.985000	0.45067	0.471000	0.32888	9.808000	0.99193	2.381000	0.81170	0.529000	0.55759	GAT		0.388	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		41	6	0	0	0	1	0	41	6				
THUMPD1	55623	broad.mit.edu	37	16	20748258	20748258	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr16:20748258C>G	ENST00000381337.2	-	4	1350	c.1006G>C	c.(1006-1008)Gaa>Caa	p.E336Q	THUMPD1_ENST00000431224.2_Missense_Mutation_p.E422Q|THUMPD1_ENST00000396083.2_Missense_Mutation_p.E336Q	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	336							poly(A) RNA binding (GO:0044822)			NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTTGCAAGTTCAGGTTTGGCT	0.468																																						ENST00000381337.2																			0				NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(1006-1008)Gaa>Caa		THUMP domain containing 1							119.0	117.0	118.0					16																	20748258		2201	4300	6501	SO:0001583	missense	55623							g.chr16:20748258C>G	BC000448	CCDS10588.1	16p13.11	2010-06-17			ENSG00000066654	ENSG00000066654			23807	protein-coding gene	gene with protein product							Standard	XM_005255422		Approved	FLJ20274	uc002dho.3	Q9NXG2	OTTHUMG00000131558	ENST00000381337.2:c.1006G>C	16.37:g.20748258C>G	ENSP00000370741:p.Glu336Gln					THUMPD1_ENST00000431224.2_Missense_Mutation_p.E422Q|THUMPD1_ENST00000396083.2_Missense_Mutation_p.E336Q	p.E336Q	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN			4	1350	-			336					Q9BWC3	Missense_Mutation	SNP	ENST00000381337.2	37	c.1006G>C	CCDS10588.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103084	0.76983	.	.	ENSG00000066654	ENST00000381337;ENST00000431224;ENST00000396083	T;T;T	0.56941	0.56;0.43;0.56	5.92	5.92	0.95590	.	0.200046	0.41500	D	0.000867	T	0.59487	0.2197	L	0.56769	1.78	0.41680	D	0.989282	D	0.57899	0.981	P	0.49637	0.617	T	0.58607	-0.7607	10	0.41790	T	0.15	.	17.0277	0.86452	0.0:1.0:0.0:0.0	.	336	Q9NXG2	THUM1_HUMAN	Q	336;422;336	ENSP00000370741:E336Q;ENSP00000392282:E422Q;ENSP00000379392:E336Q	ENSP00000370741:E336Q	E	-	1	0	THUMPD1	20655759	0.923000	0.31300	0.996000	0.52242	0.508000	0.34012	0.612000	0.24283	2.812000	0.96745	0.561000	0.74099	GAA		0.468	THUMPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254420.1	NM_017736		27	47	0	0	0	1	0	27	47				
VWA9	81556	broad.mit.edu	37	15	65885872	65885872	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr15:65885872C>A	ENST00000395644.4	-	8	1215	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	VWA9_ENST00000567744.1_Nonsense_Mutation_p.E330*|VWA9_ENST00000569491.1_Nonsense_Mutation_p.E244*|VWA9_ENST00000442903.3_Nonsense_Mutation_p.E258*|VWA9_ENST00000313182.2_Nonsense_Mutation_p.E294*|VWA9_ENST00000420799.2_Nonsense_Mutation_p.E237*|VWA9_ENST00000431261.2_Nonsense_Mutation_p.E215*			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	294																	TTTTCATCTTCATTGTCATCA	0.418																																						ENST00000395644.4																			0											c.(880-882)Gaa>Taa		von Willebrand factor A domain containing 9							147.0	115.0	126.0					15																	65885872		2201	4299	6500	SO:0001587	stop_gained	81556							g.chr15:65885872C>A	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.880G>T	15.37:g.65885872C>A	ENSP00000379006:p.Glu294*					VWA9_ENST00000313182.2_Nonsense_Mutation_p.E294*|VWA9_ENST00000420799.2_Nonsense_Mutation_p.E237*|VWA9_ENST00000442903.3_Nonsense_Mutation_p.E258*|VWA9_ENST00000569491.1_Nonsense_Mutation_p.E244*|VWA9_ENST00000431261.2_Nonsense_Mutation_p.E215*|VWA9_ENST00000567744.1_Nonsense_Mutation_p.E330*	p.E294*							8	1215	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Nonsense_Mutation	SNP	ENST00000395644.4	37	c.880G>T		.	.	.	.	.	.	.	.	.	.	C	38	7.226639	0.98146	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.65	4.74	0.60224	.	0.090952	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-22.7318	15.019	0.71613	0.0:0.9315:0.0:0.0685	.	.	.	.	X	294;294;215;237;258	.	ENSP00000326379:E294X	E	-	1	0	C15orf44	63672925	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.765000	0.85310	1.530000	0.49136	0.655000	0.94253	GAA		0.418	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		24	40	1	0	3.28513e-13	1	3.40245e-13	24	40				
TIAM1	7074	broad.mit.edu	37	21	32638783	32638783	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr21:32638783C>T	ENST00000286827.3	-	5	977	c.506G>A	c.(505-507)cGc>cAc	p.R169H	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.R169H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	169					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGATTTGGAGCGTTTCTTCTT	0.502																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(505-507)cGc>cAc		T-cell lymphoma invasion and metastasis 1							102.0	100.0	101.0					21																	32638783		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32638783C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.506G>A	21.37:g.32638783C>T	ENSP00000286827:p.Arg169His					TIAM1_ENST00000541036.1_Missense_Mutation_p.R169H|TIAM1_ENST00000469412.1_Intron	p.R169H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			5	977	-			169					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.506G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022765	0.93462	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036;ENST00000455508	T;T	0.61859	0.23;0.07	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.75476	-0.3304	10	0.87932	D	0	.	19.5961	0.95538	0.0:1.0:0.0:0.0	.	169;169;169	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	H	169;10;169;169	ENSP00000286827:R169H;ENSP00000441570:R169H	ENSP00000286827:R169H	R	-	2	0	TIAM1	31560654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.019000	0.76412	2.621000	0.88768	0.591000	0.81541	CGC		0.502	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		32	54	0	0	0	1	0	32	54				
MAP1B	4131	broad.mit.edu	37	5	71493288	71493288	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr5:71493288A>G	ENST00000296755.7	+	5	4404	c.4106A>G	c.(4105-4107)aAa>aGa	p.K1369R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1369					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTGATGCCAAAGATGAGAAT	0.463																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(4105-4107)aAa>aGa		microtubule-associated protein 1B							79.0	81.0	80.0					5																	71493288		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493288A>G	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4106A>G	5.37:g.71493288A>G	ENSP00000296755:p.Lys1369Arg						p.K1369R	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4404	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1369					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.4106A>G	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.666282	0.47677	.	.	ENSG00000131711	ENST00000296755	T	0.03745	3.82	5.19	5.19	0.71726	.	0.186500	0.37906	N	0.001886	T	0.10252	0.0251	L	0.27053	0.805	0.53688	D	0.999977	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.14035	-1.0487	10	0.62326	D	0.03	-23.7508	15.217	0.73277	1.0:0.0:0.0:0.0	.	1243;1369	A2BDK6;P46821	.;MAP1B_HUMAN	R	1369	ENSP00000296755:K1369R	ENSP00000296755:K1369R	K	+	2	0	MAP1B	71529044	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.218000	0.65257	2.187000	0.69744	0.459000	0.35465	AAA		0.463	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		25	31	0	0	0	1	0	25	31				
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			4	7						4	7	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			2	4						2	4	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2820625	2820625	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr16:2820625delC	ENST00000301740.8	+	14	8705	c.8156delC	c.(8155-8157)tccfs	p.S2719fs	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2719	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAGCGGGGTTCCCGGAGAGGC	0.647																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(8155-8157)tcfs		serine/arginine repetitive matrix 2							15.0	15.0	15.0					16																	2820625		2129	4194	6323	SO:0001589	frameshift_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2820625delC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.8156delC	16.37:g.2820625delC	ENSP00000301740:p.Ser2719fs						p.S2719fs	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			14	8705	+			2719			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Del	DEL	ENST00000301740.8	37	c.8156delC	CCDS32373.1																																																																																				0.647	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			2	4						2	4	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62193250	62193251	+	Frame_Shift_Ins	INS	-	-	G			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr20:62193250_62193251insG	ENST00000467148.1	-	11	6685_6686	c.6616_6617insC	c.(6616-6618)cgtfs	p.R2206fs	HELZ2_ENST00000427522.2_Frame_Shift_Ins_p.R1637fs	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2206	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTTCTCCCCACGGGGGGGGCCT	0.649																																						ENST00000467148.1																			0											c.(6616-6618)tggfs		helicase with zinc finger 2, transcriptional coactivator																																				SO:0001589	frameshift_variant	85441							g.chr20:62193250_62193251insG	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6617dupC	20.37:g.62193258_62193258dupG	ENSP00000417401:p.Arg2206fs					HELZ2_ENST00000427522.2_Frame_Shift_Ins_p.W1637fs	p.W2206fs	NM_001037335.2	NP_001032412.2					11	6685_6686	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Ins	INS	ENST00000467148.1	37	c.6616_6617insC	CCDS33508.1																																																																																				0.649	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		3	5						3	5	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76937603	76937603	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chrX:76937603delT	ENST00000373344.5	-	9	3359	c.3145delA	c.(3145-3147)atafs	p.I1049fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.I1011fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1049					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						TTATCTCTTATTTTTTTACTT	0.328			"""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.(3145-3147)tafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						62.0	70.0	67.0					X																	76937603		2199	4270	6469	SO:0001589	frameshift_variant	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:76937603delT	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.3145delA	X.37:g.76937603delT	ENSP00000362441:p.Ile1049fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.I1011fs	p.I1049fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3359	-			1049					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3145delA	CCDS14434.1																																																																																				0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		68	25						68	25	---	---	---	---
