#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
UBR4	23352	broad.mit.edu	37	1	19451182	19451182	+	Silent	SNP	A	A	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:19451182A>G	ENST00000375254.3	-	65	9468	c.9441T>C	c.(9439-9441)ggT>ggC	p.G3147G	UBR4_ENST00000375226.2_Silent_p.G3123G|UBR4_ENST00000375267.2_Silent_p.G3147G|UBR4_ENST00000375217.2_Silent_p.G3140G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3147					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCAGCATGACCCTGGGAGA	0.413																																						uc001bbi.3																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(9439-9441)ggT>ggC		Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.							122.0	116.0	118.0					1																	19451182		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19451182A>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9441T>C	1.37:g.19451182A>G						UBR4_uc001bbk.1_Silent_p.G794G	p.G3147G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	64	9445	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3147					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.9441T>C	CCDS189.1																																																																																				0.413	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
SFN	2810	broad.mit.edu	37	1	27190037	27190037	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:27190037G>T	ENST00000339276.4	+	1	405	c.334G>T	c.(334-336)Ggg>Tgg	p.G112W		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CAAGGAGGCCGGGGACGCCGA	0.637																																						uc010ofi.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9								Synthetic construct Homo sapiens gateway clone IMAGE:100016887 3' read SFN mRNA.							50.0	59.0	56.0					1																	27190037		2203	4300	6503	SO:0001583	missense	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27190037G>T	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.334G>T	1.37:g.27190037G>T	ENSP00000340989:p.Gly112Trp					BC016143_uc021ojq.1_Intron|SFN_uc001bnc.1_Missense_Mutation_p.G112W				P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	0		-		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)						B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000339276.4	37	c.413C>A	CCDS288.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420188	0.25552	.	.	ENSG00000175793	ENST00000339276	T	0.43294	0.95	5.96	5.05	0.67936	14-3-3 domain (4);	0.376594	0.29609	N	0.011664	T	0.54902	0.1887	L	0.58101	1.795	0.09310	N	0.999997	D	0.65815	0.995	P	0.62491	0.903	T	0.51156	-0.8741	10	0.87932	D	0	-20.3918	9.5043	0.39037	0.2149:0.0:0.7851:0.0	.	112	P31947	1433S_HUMAN	W	112	ENSP00000340989:G112W	ENSP00000340989:G112W	G	+	1	0	SFN	27062624	0.953000	0.32496	0.093000	0.20910	0.066000	0.16364	2.721000	0.47260	1.522000	0.49001	0.655000	0.94253	GGG		0.637	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142	
BCAR3	8412	broad.mit.edu	37	1	94032964	94032964	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:94032964A>G	ENST00000370244.1	-	13	2459	c.2171T>C	c.(2170-2172)tTt>tCt	p.F724S	BCAR3_ENST00000370247.3_Missense_Mutation_p.F633S|BCAR3_ENST00000370243.1_Missense_Mutation_p.F724S|BCAR3_ENST00000260502.6_Missense_Mutation_p.F724S|BCAR3_ENST00000539242.1_Missense_Mutation_p.F400S	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	724	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GGTTCCTTCAAAAGTCACAGC	0.502																																						uc001dpz.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(2170-2172)tTt>tCt		Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.							141.0	127.0	132.0					1																	94032964		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94032964A>G	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2171T>C	1.37:g.94032964A>G	ENSP00000359264:p.Phe724Ser					BCAR3_uc001dqa.3_Missense_Mutation_p.F724S|BCAR3_uc001dqb.3_Missense_Mutation_p.F724S|BCAR3_uc001dpx.4_Missense_Mutation_p.F400S|BCAR3_uc001dpy.3_Missense_Mutation_p.F633S	p.F724S	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	10	2446	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	724			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.2171T>C	CCDS745.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.275834	0.59649	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.85	5.85	0.93711	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.207947	0.51477	D	0.000081	T	0.17408	0.0418	L	0.50919	1.6	0.58432	D	0.999991	P;P	0.44627	0.505;0.839	B;B	0.39935	0.13;0.314	T	0.02844	-1.1103	10	0.21014	T	0.42	-26.2461	16.2303	0.82332	1.0:0.0:0.0:0.0	.	724;633	O75815;Q5TEW3	BCAR3_HUMAN;.	S	633;724;724;724;400	ENSP00000359267:F633S;ENSP00000260502:F724S;ENSP00000359264:F724S;ENSP00000359263:F724S;ENSP00000441343:F400S	ENSP00000260502:F724S	F	-	2	0	BCAR3	93805552	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.936000	0.75892	2.233000	0.73108	0.533000	0.62120	TTT		0.502	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1		
IRF6	3664	broad.mit.edu	37	1	209961847	209961847	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:209961847C>T	ENST00000367021.3	-	9	1494	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	RP3-434O14.8_ENST00000430751.1_RNA|IRF6_ENST00000542854.1_Missense_Mutation_p.R346H	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	441					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TTGAAGGATGCGGTACAGCTG	0.557										HNSCC(57;0.16)																												uc001hhq.2																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.(1321-1323)cGc>cAc		Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.							93.0	87.0	89.0					1																	209961847		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209961847C>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1322G>A	1.37:g.209961847C>T	ENSP00000355988:p.Arg441His	HNSCC(57;0.16)				IRF6_uc010psm.2_Missense_Mutation_p.R346H	p.R441H	NM_006147	NP_001193625	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	8	1626	-			441					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.1322G>A	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628909	0.46944	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.95447	-3.71;-3.71	5.67	5.67	0.87782	SMAD domain-like (1);SMAD/FHA domain (1);	0.139563	0.64402	D	0.000002	D	0.91747	0.7390	L	0.32530	0.975	0.80722	D	1	B	0.28801	0.223	B	0.15870	0.014	D	0.88671	0.3195	10	0.22109	T	0.4	.	19.7848	0.96432	0.0:1.0:0.0:0.0	.	441	O14896	IRF6_HUMAN	H	441;346	ENSP00000355988:R441H;ENSP00000440532:R346H	ENSP00000355988:R441H	R	-	2	0	IRF6	208028470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.236000	0.78154	2.679000	0.91253	0.650000	0.86243	CGC		0.557	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	
CDH23	64072	broad.mit.edu	37	10	73375274	73375274	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr10:73375274C>G	ENST00000224721.6	+	9	866	c.861C>G	c.(859-861)agC>agG	p.S287R	CDH23_ENST00000398842.3_Missense_Mutation_p.S282R|CDH23_ENST00000461841.3_Missense_Mutation_p.S327R|CDH23_ENST00000299366.7_Missense_Mutation_p.S327R|CDH23_ENST00000398809.4_Missense_Mutation_p.S282R	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	282	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATACCAACAGCATCTTTGCCC	0.607																																						uc001jrx.4																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(844-846)agC>agG		Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.							84.0	85.0	85.0					10																	73375274		2026	4174	6200	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73375274C>G	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.861C>G	10.37:g.73375274C>G	ENSP00000224721:p.Ser287Arg					CDH23_uc001jrw.4_Missense_Mutation_p.S282R|CDH23_uc001jry.3_Missense_Mutation_p.S282R|CDH23_uc001jrz.3_Missense_Mutation_p.S282R|CDH23_uc021psl.1_Missense_Mutation_p.S282R|CDH23_uc009xql.3_Missense_Mutation_p.S282R	p.S282R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			9	1236	+			282			Cadherin 3.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.846C>G		.	.	.	.	.	.	.	.	.	.	C	11.53	1.667180	0.29604	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.61274	0.12;0.12	4.22	3.31	0.37934	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	L	0.31371	0.925	0.80722	D	1	B;D;D	0.69078	0.171;0.993;0.997	B;D;D	0.78314	0.057;0.954;0.991	T	0.53358	-0.8450	10	0.23302	T	0.38	.	9.5218	0.39140	0.0:0.8276:0.0:0.1724	.	282;282;282	A5D6V9;Q9H251;Q9H251-5	.;CAD23_HUMAN;.	R	289;282;282;282;282;287;287;199	ENSP00000381789:S282R;ENSP00000381822:S282R	ENSP00000224721:S289R	S	+	3	2	CDH23	73045280	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.381000	0.34362	0.998000	0.38996	0.557000	0.71058	AGC		0.607	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
DHX32	55760	broad.mit.edu	37	10	127541113	127541113	+	Splice_Site	SNP	T	T	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr10:127541113T>C	ENST00000284690.3	-	5	1681	c.1191A>G	c.(1189-1191)tcA>tcG	p.S397S	DHX32_ENST00000368721.1_Splice_Site_p.S21S|DHX32_ENST00000284688.6_Splice_Site_p.S316S|BCCIP_ENST00000368759.5_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	397						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAGCACTACCTGAAGAAGATG	0.433																																						uc001ljf.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.e5+1		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.							134.0	124.0	127.0					10																	127541113		2203	4300	6503	SO:0001630	splice_region_variant	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127541113T>C		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1192+1A>G	10.37:g.127541113T>C						BCCIP_uc001ljd.4_Intron|DHX32_uc001lje.1_Splice_Site_p.G22_splice|DHX32_uc001ljg.1_Splice_Site_p.G398_splice|DHX32_uc009yam.1_Splice_Site_p.G153_splice	p.G398_splice	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN			5	1683	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	398					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	37	c.1192_splice	CCDS7652.1																																																																																				0.433	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180	Silent
PNPLA2	57104	broad.mit.edu	37	11	824015	824015	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr11:824015G>A	ENST00000336615.4	+	8	1139	c.937G>A	c.(937-939)Gtg>Atg	p.V313M	AP006621.8_ENST00000532946.1_RNA|AP006621.8_ENST00000528982.1_RNA	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	313					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGGCCTGCGTGGAGCCCAC	0.716																																						uc001lrt.3																			0				breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9						c.(937-939)Gtg>Atg		Homo sapiens patatin-like phospholipase domain containing 2 (PNPLA2), mRNA.							25.0	22.0	23.0					11																	824015		2191	4294	6485	SO:0001583	missense	57104				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity	g.chr11:824015G>A	AJ278475	CCDS7718.1	11p15.5	2014-03-14			ENSG00000177666	ENSG00000177666	3.1.1.3	"""Patatin-like phospholipase domain containing"""	30802	protein-coding gene	gene with protein product		609059				8619474, 16799181, 19029121	Standard	NM_020376		Approved	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta	uc001lrt.3	Q96AD5	OTTHUMG00000133309	ENST00000336615.4:c.937G>A	11.37:g.824015G>A	ENSP00000337701:p.Val313Met					PNPLA2_uc009ycl.3_Missense_Mutation_p.R124H|EFCAB4A_uc010qwt.1_5'Flank	p.V313M	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	1140	+		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	313					O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62	Missense_Mutation	SNP	ENST00000336615.4	37	c.937G>A	CCDS7718.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258580	0.23051	.	.	ENSG00000177666	ENST00000336615	T	0.78481	-1.18	4.18	2.2	0.27929	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.524218	0.19788	N	0.106058	T	0.57359	0.2048	N	0.12182	0.205	0.20307	N	0.999911	B	0.19200	0.034	B	0.12156	0.007	T	0.46456	-0.9190	10	0.41790	T	0.15	-17.7757	7.7524	0.28904	0.2432:0.0:0.7568:0.0	.	313	Q96AD5	PLPL2_HUMAN	M	313	ENSP00000337701:V313M	ENSP00000337701:V313M	V	+	1	0	PNPLA2	814015	0.983000	0.35010	0.990000	0.47175	0.720000	0.41350	1.011000	0.29911	0.192000	0.20272	0.484000	0.47621	GTG		0.716	PNPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257106.1	NM_020376	
OR5D16	390144	broad.mit.edu	37	11	55606777	55606777	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr11:55606777T>C	ENST00000378396.1	+	1	550	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTGTGAGTTATCCTCCCTGAT	0.418																																						uc010rio.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(550-552)Tcc>Ccc		Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.							190.0	167.0	175.0					11																	55606777		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606777T>C	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.550T>C	11.37:g.55606777T>C	ENSP00000367649:p.Ser184Pro						p.S184P	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			0	550	+		all_epithelial(135;0.208)	184					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.550T>C	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	5.326	0.245508	0.10077	.	.	ENSG00000205029	ENST00000378396	T	0.00026	8.94	4.47	0.329	0.15924	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.11131	0.1	0.09310	N	1	B	0.17667	0.023	B	0.26202	0.067	T	0.11817	-1.0572	9	0.02654	T	1	-37.7414	7.1173	0.25424	0.0:0.4255:0.0:0.5745	.	184	Q8NGK9	OR5DG_HUMAN	P	184	ENSP00000367649:S184P	ENSP00000367649:S184P	S	+	1	0	OR5D16	55363353	0.000000	0.05858	0.001000	0.08648	0.872000	0.50106	-2.974000	0.00666	0.229000	0.21039	0.433000	0.28618	TCC		0.418	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496	
UVRAG	7405	broad.mit.edu	37	11	75852116	75852116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr11:75852116G>T	ENST00000356136.3	+	15	2000	c.1759G>T	c.(1759-1761)Gaa>Taa	p.E587*	UVRAG_ENST00000531818.1_Nonsense_Mutation_p.E215*|UVRAG_ENST00000532130.1_Nonsense_Mutation_p.E215*|UVRAG_ENST00000538870.1_Nonsense_Mutation_p.E143*|UVRAG_ENST00000528420.1_Nonsense_Mutation_p.E486*|UVRAG_ENST00000539288.1_Nonsense_Mutation_p.E215*|UVRAG_ENST00000533454.1_Nonsense_Mutation_p.E215*	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	587					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AGAACAAGGAGAAGCCCTCTC	0.577																																						uc001oxc.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(1759-1761)Gaa>Taa		Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.							35.0	41.0	39.0					11																	75852116		2200	4292	6492	SO:0001587	stop_gained	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75852116G>T	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1759G>T	11.37:g.75852116G>T	ENSP00000348455:p.Glu587*					UVRAG_uc010rrw.2_Nonsense_Mutation_p.E486*|UVRAG_uc001oxd.3_Nonsense_Mutation_p.E215*|UVRAG_uc010rrx.2_Nonsense_Mutation_p.E215*|UVRAG_uc010rry.2_Nonsense_Mutation_p.E143*	p.E587*	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			14	2000	+			587					B3KTC1|O00392	Nonsense_Mutation	SNP	ENST00000356136.3	37	c.1759G>T	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359877	0.82353	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	.	.	.	5.6	3.72	0.42706	.	0.816509	0.11605	N	0.547363	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.3416	7.0495	0.25065	0.1503:0.1522:0.6975:0.0	.	.	.	.	X	587;486;215;215;215;215;143	.	ENSP00000348455:E587X	E	+	1	0	UVRAG	75529764	0.979000	0.34478	0.001000	0.08648	0.027000	0.11550	4.182000	0.58310	0.721000	0.32231	0.655000	0.94253	GAA		0.577	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	
RACGAP1	29127	broad.mit.edu	37	12	50387942	50387942	+	Silent	SNP	G	G	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:50387942G>C	ENST00000427314.2	-	14	1534	c.1311C>G	c.(1309-1311)cgC>cgG	p.R437R	RACGAP1_ENST00000312377.5_Silent_p.R437R|RACGAP1_ENST00000551016.1_Silent_p.R437R|RACGAP1_ENST00000454520.2_Silent_p.R437R|RACGAP1_ENST00000434422.1_Silent_p.R437R|RACGAP1_ENST00000547905.1_Silent_p.R437R|RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000548961.1_5'Flank	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CTCTGTTAAGGCGAAAGGTCA	0.403																																						uc001rvt.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(1309-1311)cgC>cgG		Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA.							116.0	112.0	113.0					12																	50387942		2203	4300	6503	SO:0001819	synonymous_variant	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50387942G>C		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1311C>G	12.37:g.50387942G>C						RACGAP1_uc009zlm.1_Silent_p.R437R|RACGAP1_uc001rvs.2_Silent_p.R437R|RACGAP1_uc001rvu.2_Silent_p.R437R	p.R437R	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN			13	1621	-			437			Rho-GAP.			Silent	SNP	ENST00000427314.2	37	c.1311C>G	CCDS8795.1																																																																																				0.403	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277	
LRP1	4035	broad.mit.edu	37	12	57571370	57571370	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:57571370G>A	ENST00000243077.3	+	26	4823	c.4357G>A	c.(4357-4359)Gcc>Acc	p.A1453T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1453					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTGGATTGACGCCAGGTCAGC	0.657																																						uc001snd.3																			0		p.D1452D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4357-4359)Gcc>Acc		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						32.0	27.0	29.0					12																	57571370		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57571370G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4357G>A	12.37:g.57571370G>A	ENSP00000243077:p.Ala1453Thr						p.A1453T	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	25	4823	+			1453					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.4357G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871622	0.72065	.	.	ENSG00000123384	ENST00000243077	D	0.90563	-2.69	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.95389	0.8503	M	0.88031	2.925	0.80722	D	1	D	0.71674	0.998	P	0.60473	0.875	D	0.95523	0.8596	10	0.52906	T	0.07	.	17.3088	0.87202	0.0:0.0:1.0:0.0	.	1453	Q07954	LRP1_HUMAN	T	1453	ENSP00000243077:A1453T	ENSP00000243077:A1453T	A	+	1	0	LRP1	55857637	1.000000	0.71417	0.970000	0.41538	0.595000	0.36748	9.648000	0.98483	2.631000	0.89168	0.462000	0.41574	GCC		0.657	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
CLIP1	6249	broad.mit.edu	37	12	122839754	122839754	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:122839754G>A	ENST00000540338.1	-	5	1152	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	CLIP1_ENST00000537178.1_Missense_Mutation_p.R371W|CLIP1_ENST00000302528.7_Missense_Mutation_p.R371W|CLIP1_ENST00000545889.1_Missense_Mutation_p.R72W|CLIP1_ENST00000358808.2_Missense_Mutation_p.R371W|CLIP1_ENST00000361654.4_Missense_Mutation_p.R371W			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	371					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCCAGATCCCGTTCCGCCAGC	0.632																																						uc001ucg.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1111-1113)Cgg>Tgg		Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.							69.0	69.0	69.0					12																	122839754		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122839754G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1111C>T	12.37:g.122839754G>A	ENSP00000439093:p.Arg371Trp					CLIP1_uc001uch.1_Missense_Mutation_p.R371W|CLIP1_uc001uci.1_Missense_Mutation_p.R371W|CLIP1_uc001ucj.1_Missense_Mutation_p.R72W|CLIP1_uc009zxo.1_5'Flank|CLIP1_uc010tae.2_Intron	p.R371W	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	5	1266	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		371					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.1111C>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038361	0.75617	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338	T;T;T;T;T	0.61040	0.99;0.14;0.14;0.16;0.16	5.26	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.76786	0.4036	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.80607	-0.1307	10	0.87932	D	0	-14.9458	12.6629	0.56824	0.0:0.0:0.71:0.29	.	371;371;371	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	W	72;371;371;216;371;371	ENSP00000438743:R72W;ENSP00000303585:R371W;ENSP00000351665:R371W;ENSP00000445531:R371W;ENSP00000439093:R371W	ENSP00000303585:R371W	R	-	1	2	CLIP1	121405707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.079000	0.50104	2.457000	0.83068	0.655000	0.94253	CGG		0.632	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	
TMEM132D	121256	broad.mit.edu	37	12	129694161	129694161	+	Silent	SNP	G	G	A	rs189348668		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:129694161G>A	ENST00000422113.2	-	5	1673	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	449					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCACCGGGACGGCCACCGTCT	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17852	0.0		0.0	False		,,,				2504	0.0					uc009zyl.1																			0		p.A449V(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1345-1347)gcC>gcT		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							103.0	81.0	88.0					12																	129694161		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129694161G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1347C>T	12.37:g.129694161G>A							p.A449A	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	4	1675	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	449					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.1347C>T	CCDS9266.1																																																																																				0.572	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
OR6S1	341799	broad.mit.edu	37	14	21109809	21109809	+	Silent	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr14:21109809G>A	ENST00000320704.3	-	1	41	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CTGCCAGGACGAACTCTGTTG	0.453																																						uc001vxv.1																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(40-42)ttC>ttT		Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.							113.0	120.0	117.0					14																	21109809		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109809G>A	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.42C>T	14.37:g.21109809G>A							p.F14F	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	0	42	-	all_cancers(95;0.00304)		14					Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.42C>T	CCDS32038.1																																																																																				0.453	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1		
VPS18	57617	broad.mit.edu	37	15	41191139	41191139	+	Missense_Mutation	SNP	G	G	A	rs201577141		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr15:41191139G>A	ENST00000220509.5	+	3	607	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	VPS18_ENST00000558474.1_Missense_Mutation_p.V90M	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	90					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCCAACCACGTGGAGCTGGG	0.488																																						uc001zne.3																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(268-270)Gtg>Atg		Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.							103.0	86.0	92.0					15																	41191139		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41191139G>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.268G>A	15.37:g.41191139G>A	ENSP00000220509:p.Val90Met						p.V90M	NM_020857	NP_065908	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	2	607	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	90					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.268G>A	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306646	0.60305	.	.	ENSG00000104142	ENST00000220509	T	0.49139	0.79	4.77	1.81	0.25067	.	0.250524	0.39475	N	0.001358	T	0.41236	0.1150	L	0.57536	1.79	0.45464	D	0.998433	B	0.20780	0.048	B	0.20955	0.032	T	0.25813	-1.0121	10	0.49607	T	0.09	-17.684	9.1659	0.37052	0.241:0.0:0.759:0.0	.	90	Q9P253	VPS18_HUMAN	M	90	ENSP00000220509:V90M	ENSP00000220509:V90M	V	+	1	0	VPS18	38978431	1.000000	0.71417	0.753000	0.31225	0.737000	0.42083	3.550000	0.53691	0.211000	0.20683	0.455000	0.32223	GTG		0.488	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2		
SLC30A4	7782	broad.mit.edu	37	15	45814527	45814527	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr15:45814527C>T	ENST00000261867.4	-	2	340	c.26G>A	c.(25-27)cGc>cAc	p.R9H	SLC30A4_ENST00000559667.1_5'Flank|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	9					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		AGATTTGAGGCGCTTCCACGC	0.652																																						uc001zvj.3																			0				endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15						c.(25-27)cGc>cAc		Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.							19.0	23.0	22.0					15																	45814527		2184	4295	6479	SO:0001583	missense	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45814527C>T		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.26G>A	15.37:g.45814527C>T	ENSP00000261867:p.Arg9His					HMGN2P46_uc010beg.1_Intron|HMGN2P46_uc010beh.1_Intron|HMGN2P46_uc010bei.1_Intron|HMGN2P46_uc010bej.1_Intron|HMGN2P46_uc001zvn.1_Intron|HMGN2P46_uc001zvm.1_Intron	p.R9H	NM_013309	NP_037441	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	1	338	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	9					Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	c.26G>A	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156849	0.57259	.	.	ENSG00000104154	ENST00000261867	T	0.66099	-0.19	4.46	4.46	0.54185	.	0.295460	0.32802	N	0.005637	T	0.53286	0.1787	N	0.24115	0.695	0.37157	D	0.902403	D	0.67145	0.996	P	0.48270	0.572	T	0.64807	-0.6320	10	0.72032	D	0.01	-1.2719	11.7184	0.51668	0.0:0.8211:0.1789:0.0	.	9	O14863	ZNT4_HUMAN	H	9	ENSP00000261867:R9H	ENSP00000261867:R9H	R	-	2	0	SLC30A4	43601819	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	2.081000	0.41596	2.021000	0.59480	0.591000	0.81541	CGC		0.652	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1		
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					uc010bky.2																			0											c.(817-819)Gaa>Caa		Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																																						645752							g.chr15:78208916C>G																													15.37:g.78208916C>G						LOC645752_uc010umq.1_5'Flank|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank	p.E273Q							13	1581	-									Missense_Mutation	SNP	ENST00000565869.1	37	c.817G>C																																																																																					0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1		
SHCBP1	79801	broad.mit.edu	37	16	46615749	46615749	+	Silent	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr16:46615749C>T	ENST00000303383.3	-	13	2177	c.1911G>A	c.(1909-1911)ggG>ggA	p.G637G		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	637					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTTGCGTGATCCCCAGTTCAC	0.433																																						uc002eec.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1909-1911)ggG>ggA		Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA.							207.0	172.0	184.0					16																	46615749		2203	4300	6503	SO:0001819	synonymous_variant	79801							g.chr16:46615749C>T	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1911G>A	16.37:g.46615749C>T							p.G637G	NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN			12	1951	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	637					Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	c.1911G>A	CCDS10720.1																																																																																				0.433	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745	
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	T	rs55863639		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:7579312C>T	ENST00000269305.4	-	4	564	c.375G>A	c.(373-375)acG>acA	p.T125T	TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGCAACTGACCGTGCAAGTCA	0.537		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)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(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	CS004351|CS011573|CS971913	TP53	S	rs55863639	c.e4+1	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							66.0	61.0	63.0					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7579312C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>A	17.37:g.7579312C>T		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_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.3_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site_p.T86_splice|TP53_uc010cnk.1_Splice_Site_p.T140_splice	p.T125_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	569	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent
MYH2	4620	broad.mit.edu	37	17	10432722	10432722	+	Nonsense_Mutation	SNP	A	A	T	rs552670900		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:10432722A>T	ENST00000245503.5	-	25	3578	c.3194T>A	c.(3193-3195)tTg>tAg	p.L1065*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.L1065*|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1065					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGCCAACTTCAAGTCACCCTC	0.373																																						uc010coi.3																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3193-3195)tTg>tAg		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							142.0	132.0	135.0					17																	10432722		2203	4300	6503	SO:0001587	stop_gained	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432722A>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3194T>A	17.37:g.10432722A>T	ENSP00000245503:p.Leu1065*					AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Nonsense_Mutation_p.L1065*|MYH2_uc010coj.3_Intron	p.L1065*	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN			24	3322	-			1065					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	ENST00000245503.5	37	c.3194T>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	40	8.521683	0.98848	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	5.24	5.24	0.73138	.	0.000000	0.31415	U	0.007693	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3006	0.73949	1.0:0.0:0.0:0.0	.	.	.	.	X	1065	.	ENSP00000245503:L1065X	L	-	2	0	MYH2	10373447	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	8.765000	0.91724	2.194000	0.70268	0.482000	0.46254	TTG		0.373	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
NR1D1	9572	broad.mit.edu	37	17	38252312	38252312	+	Silent	SNP	T	T	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:38252312T>C	ENST00000246672.3	-	5	1263	c.633A>G	c.(631-633)cgA>cgG	p.R211R		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	211	Crucial for activation of GJA1. {ECO:0000250}.|Hinge.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GCTGCTTCTCTCGTTTGGGGA	0.562																																						uc002htz.2																			0				endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11						c.(631-633)cgA>cgG		Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA.							53.0	48.0	50.0					17																	38252312		2203	4297	6500	SO:0001819	synonymous_variant	9572				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38252312T>C	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.633A>G	17.37:g.38252312T>C						NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_Intron	p.R211R	NM_021724	NP_068370	P20393	NR1D1_HUMAN			4	1259	-	Colorectal(19;0.000442)		211					Q0P5Z4|Q15304	Silent	SNP	ENST00000246672.3	37	c.633A>G	CCDS11361.1																																																																																				0.562	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1		
KRT17	3872	broad.mit.edu	37	17	39780481	39780481	+	Missense_Mutation	SNP	C	C	T	rs28928897|rs57674130|rs267607414		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:39780481C>T	ENST00000311208.8	-	1	348	c.281G>A	c.(280-282)cGc>cAc	p.R94H	JUP_ENST00000540235.1_Intron|KRT42P_ENST00000438131.1_RNA	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	94	Coil 1A.|Rod.		Missing (in PC2).|R -> C (in PC2 and SM). {ECO:0000269|PubMed:9767294}.|R -> H (in SM). {ECO:0000269|PubMed:9008238}.|R -> P (in PC2). {ECO:0000269|PubMed:11348474}.	Missing (in Ref. 5; AAH72018). {ECO:0000305}.	epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGAGGCCAGGCGGTCATTGAG	0.627																																					Pancreas(92;1242 2086 39193 50508)	uc002hxh.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	GRCh37	CM012143|CM970840	KRT17	M	rs28928897	c.(280-282)cGc>cAc		Homo sapiens keratin 17 (KRT17), mRNA.							88.0	93.0	91.0					17																	39780481		2203	4300	6503	SO:0001583	missense	3872				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39780481C>T	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.281G>A	17.37:g.39780481C>T	ENSP00000308452:p.Arg94His					JUP_uc010wfs.2_Intron|KRT17_uc010wft.2_Missense_Mutation_p.R94H	p.R94H	NM_000422	NP_000413	Q04695	K1C17_HUMAN			0	402	-		Breast(137;0.000307)	94	Missing (in Ref. 5; AAH72018).	Missing (in PC2).|R -> C (in PC2 and SM).|R -> H (in SM).|R -> P (in PC2).	Coil 1A.|Rod.		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.281G>A	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237988	0.95240	.	.	ENSG00000128422	ENST00000311208	D	0.94046	-3.34	5.03	5.03	0.67393	Filament (1);	0.000000	0.47455	D	0.000238	D	0.97548	0.9197	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.98192	1.0463	10	0.87932	D	0	.	18.9279	0.92552	0.0:1.0:0.0:0.0	rs28928897;rs59756937	94	Q04695	K1C17_HUMAN	H	94	ENSP00000308452:R94H	ENSP00000308452:R94H	R	-	2	0	KRT17	37034007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.771000	0.95319	0.563000	0.77884	CGC		0.627	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422	
HELZ	9931	broad.mit.edu	37	17	65157047	65157047	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:65157047C>T	ENST00000358691.5	-	16	2207	c.2041G>A	c.(2041-2043)Gct>Act	p.A681T	HELZ_ENST00000580168.1_Missense_Mutation_p.A681T	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	681						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGTTTGACAGCCTGAGCTAGA	0.493																																						uc010wqk.2																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2041-2043)Gct>Act		Homo sapiens helicase with zinc finger (HELZ), mRNA.							129.0	131.0	130.0					17																	65157047		2011	4178	6189	SO:0001583	missense	9931							g.chr17:65157047C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2041G>A	17.37:g.65157047C>T	ENSP00000351524:p.Ala681Thr					HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.A681T	p.A681T	NM_014877	NP_055692					15	2228	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.2041G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885967	0.51908	.	.	ENSG00000198265	ENST00000358691	D	0.82167	-1.58	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.90335	0.6976	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.90792	0.4687	10	0.72032	D	0.01	-11.2176	19.3467	0.94365	0.0:1.0:0.0:0.0	.	681;681	B7ZLW2;P42694	.;HELZ_HUMAN	T	681	ENSP00000351524:A681T	ENSP00000351524:A681T	A	-	1	0	HELZ	62587509	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.302000	0.78861	2.638000	0.89438	0.591000	0.81541	GCT		0.493	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	
EPB41L3	23136	broad.mit.edu	37	18	5434010	5434010	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr18:5434010T>C	ENST00000341928.2	-	7	1056	c.716A>G	c.(715-717)gAc>gGc	p.D239G	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.D239G|EPB41L3_ENST00000544123.1_Missense_Mutation_p.D239G|EPB41L3_ENST00000342933.3_Missense_Mutation_p.D239G|EPB41L3_ENST00000400111.3_Missense_Mutation_p.D239G	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	239	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGGGTCATAGTCTCCGAGCTC	0.522																																						uc002kmt.1																			0		p.G238R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(715-717)gAc>gGc		Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.							193.0	171.0	179.0					18																	5434010		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5434010T>C	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.716A>G	18.37:g.5434010T>C	ENSP00000343158:p.Asp239Gly					EPB41L3_uc010wzh.1_Missense_Mutation_p.D239G|EPB41L3_uc002kmu.1_Missense_Mutation_p.D239G|EPB41L3_uc010dkq.1_Missense_Mutation_p.D130G|EPB41L3_uc010dks.1_Missense_Mutation_p.D261G|EPB41L3_uc002kmv.1_Missense_Mutation_p.D130G	p.D239G	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			6	802	-			239			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.716A>G	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.656979	0.88154	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	6.16	6.16	0.99307	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.082130	0.85682	D	0.000000	D	0.94118	0.8114	H	0.98646	4.29	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.993;0.998;0.998;0.997;0.998	D	0.96225	0.9163	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	239;239;130;239;239	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	G	239;130;239;130;239;239	ENSP00000343158:D239G;ENSP00000441174:D239G;ENSP00000341138:D239G;ENSP00000382981:D239G	ENSP00000343158:D239G	D	-	2	0	EPB41L3	5424010	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	GAC		0.522	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
MFSD12	126321	broad.mit.edu	37	19	3547922	3547922	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr19:3547922G>C	ENST00000355415.2	-	4	930	c.761C>G	c.(760-762)aCc>aGc	p.T254S	MFSD12_ENST00000591878.1_5'UTR|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000389395.3_Missense_Mutation_p.T254S|MFSD12_ENST00000398558.4_Missense_Mutation_p.T254S	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	254					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CAACAGGGGGGTGTGCTCGCC	0.711																																						uc002lxw.3																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(760-762)aCc>aGc		Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.							7.0	9.0	9.0					19																	3547922		1890	4030	5920	SO:0001583	missense	126321				transmembrane transport	integral to membrane		g.chr19:3547922G>C	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.761C>G	19.37:g.3547922G>C	ENSP00000347583:p.Thr254Ser					MFSD12_uc002lxx.3_Missense_Mutation_p.T254S|MFSD12_uc002lxy.3_Missense_Mutation_p.T245S|MFSD12_uc002lxz.3_Missense_Mutation_p.T254S	p.T254S	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN			3	931	-			254					A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	c.761C>G	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	G	0.464	-0.887537	0.02511	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	T;T;T	0.80304	-1.36;-1.36;-1.36	4.62	-0.716	0.11212	Major facilitator superfamily domain, general substrate transporter (1);	0.737146	0.13860	N	0.357739	T	0.57184	0.2036	N	0.02960	-0.455	0.24703	N	0.993242	B;B;B	0.22003	0.002;0.001;0.063	B;B;B	0.19666	0.003;0.003;0.026	T	0.32107	-0.9919	10	0.09338	T	0.73	-19.2125	17.0381	0.86481	0.0:0.3964:0.6035:0.0	.	254;245;254	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	S	254	ENSP00000374046:T254S;ENSP00000381566:T254S;ENSP00000347583:T254S	ENSP00000347583:T254S	T	-	2	0	C19orf28	3498922	0.875000	0.30112	0.818000	0.32626	0.507000	0.33981	0.457000	0.21875	0.034000	0.15491	-0.280000	0.10049	ACC		0.711	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983	
RPSAP58	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr19:24010294C>G	ENST00000496398.1	+	4	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.Q111E					ribosomal protein SA pseudogene 58									p.Q111E(12)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCACTAACCAGATCCAGGC	0.567																																						uc002nrn.3																			12	Substitution - Missense(12)	p.Q111E(12)	kidney(6)|urinary_tract(2)|prostate(2)|endometrium(2)	endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(331-333)Cag>Gag		Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.																																				SO:0001583	missense	388524				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	g.chr19:24010294C>G			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.331C>G	19.37:g.24010294C>G	ENSP00000417240:p.Gln111Glu						p.Q111E	NM_002295	NP_002286	P08865	RSSA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	3	754	+			111			Interaction with PPP1R16B.			Missense_Mutation	SNP	ENST00000496398.1	37	c.331C>G		.	.	.	.	.	.	.	.	.	.	.	13.90	2.375690	0.42105	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.21932	1.98;1.98	2.52	2.52	0.30459	.	0.000000	0.64402	U	0.000001	T	0.17619	0.0423	.	.	.	0.48830	D	0.999718	B	0.34226	0.443	B	0.32624	0.149	T	0.11084	-1.0602	9	0.72032	D	0.01	.	10.8987	0.47038	0.0:1.0:0.0:0.0	.	111	A6NE09	.	E	111	ENSP00000417240:Q111E;ENSP00000346598:Q111E	ENSP00000346598:Q111E	Q	+	1	0	RPSAP58	23802134	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.812000	0.62613	1.477000	0.48234	0.627000	0.83407	CAG		0.567	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662	
ST6GAL2	84620	broad.mit.edu	37	2	107459661	107459661	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr2:107459661C>T	ENST00000409382.3	-	2	1383	c.773G>A	c.(772-774)cGc>cAc	p.R258H	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R258H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R258H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	258					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CACGCGCGCGCGGCTCCGCAG	0.736																																						uc002tdq.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(772-774)cGc>cAc		Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.							5.0	7.0	6.0					2																	107459661		2108	4049	6157	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459661C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.773G>A	2.37:g.107459661C>T	ENSP00000386942:p.Arg258His					ST6GAL2_uc002tdr.3_Missense_Mutation_p.R258H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R258H	p.R258H	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN			1	892	-			258					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.773G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	9.564	1.119154	0.20877	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.34275	2.37;2.37;1.37	5.07	3.25	0.37280	.	0.117519	0.56097	D	0.000035	T	0.53530	0.1802	M	0.74389	2.26	0.18873	N	0.999988	D;P	0.89917	1.0;0.769	D;B	0.64595	0.927;0.16	T	0.44742	-0.9308	10	0.45353	T	0.12	-24.2452	9.6972	0.40165	0.0:0.781:0.1415:0.0775	.	258;258	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	H	258	ENSP00000355273:R258H;ENSP00000386942:R258H;ENSP00000387332:R258H	ENSP00000355273:R258H	R	-	2	0	ST6GAL2	106826093	0.807000	0.29009	0.000000	0.03702	0.014000	0.08584	2.843000	0.48238	0.533000	0.28675	-0.305000	0.09177	CGC		0.736	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
PSD4	23550	broad.mit.edu	37	2	113950118	113950118	+	Missense_Mutation	SNP	G	G	A	rs140435814	byFrequency	TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr2:113950118G>A	ENST00000245796.6	+	6	1985	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	PSD4_ENST00000441564.3_Missense_Mutation_p.R569H	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	597	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCTCTATCGCCTGGAGGGC	0.597													g|||	5	0.000998403	0.0038	0.0	5008	,	,		20179	0.0		0.0	False		,,,				2504	0.0					uc002tjc.3																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1789-1791)cGc>cAc		Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.			HIS/ARG	17,4389	25.3+/-52.1	1,15,2187	97.0	97.0	97.0		1790	-2.9	0.8	2	dbSNP_134	97	0,8600		0,0,4300	yes	missense	PSD4	NM_012455.2	29	1,15,6487	AA,AG,GG		0.0,0.3858,0.1307	benign	597/1057	113950118	17,12989	2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113950118G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1790G>A	2.37:g.113950118G>A	ENSP00000245796:p.Arg597His					PSD4_uc002tjd.3_Missense_Mutation_p.R218H|PSD4_uc002tje.3_Missense_Mutation_p.R568H|PSD4_uc002tjf.3_Missense_Mutation_p.R218H	p.R597H	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			5	1973	+			597			SEC7.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1790G>A	CCDS33276.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	5.103	0.204558	0.09704	0.003858	0.0	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.30981	1.51;1.51	5.55	-2.87	0.05700	SEC7-like (4);	0.685420	0.15168	N	0.276809	T	0.10380	0.0254	N	0.04387	-0.21	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.44375	-0.9332	10	0.02654	T	1	.	11.4513	0.50154	0.5497:0.0:0.4503:0.0	.	255;569;597	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	H	597;569	ENSP00000245796:R597H;ENSP00000413997:R569H	ENSP00000245796:R597H	R	+	2	0	PSD4	113666589	0.030000	0.19436	0.776000	0.31678	0.911000	0.54048	0.236000	0.17967	-0.432000	0.07297	-0.482000	0.04802	CGC		0.597	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455	
INPP5D	3635	broad.mit.edu	37	2	234112804	234112804	+	Missense_Mutation	SNP	C	C	T	rs142742228		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr2:234112804C>T	ENST00000359570.5	+	28	2972	c.2972C>T	c.(2971-2973)aCg>aTg	p.T991M	INPP5D_ENST00000455936.2_Missense_Mutation_p.T755M|INPP5D_ENST00000450745.1_Missense_Mutation_p.T755M|RN7SL32P_ENST00000580514.1_RNA			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1003	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCAGGGGACACGCTGCCTCAG	0.602																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.2																			0				central_nervous_system(1)|ovary(1)	2						c.(2920-2922)aCg>aTg		Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.							17.0	26.0	23.0					2																	234112804		2077	4195	6272	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234112804C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2972C>T	2.37:g.234112804C>T	ENSP00000352575:p.Thr991Met					INPP5D_uc010zmp.2_Missense_Mutation_p.T973M	p.T974M	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	24	3074	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	1003			Pro-rich.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.2921C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.49	1.363633	0.24684	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96745	-4.06;-4.1;-4.1;-4.11;-4.11;-4.11	3.89	1.88	0.25563	.	0.712859	0.13845	N	0.358745	D	0.92211	0.7530	.	.	.	0.09310	N	1	P;P	0.49447	0.924;0.876	B;B	0.37780	0.258;0.132	D	0.85834	0.1393	9	0.72032	D	0.01	.	7.3524	0.26700	0.1915:0.6229:0.1855:0.0	.	1002;1003	Q92835-2;Q92835	.;SHIP1_HUMAN	M	991;755;755;624;624;624	ENSP00000352575:T991M;ENSP00000407916:T755M;ENSP00000404610:T755M;ENSP00000400151:T624M;ENSP00000397421:T624M;ENSP00000405338:T624M	ENSP00000352575:T991M	T	+	2	0	INPP5D	233777543	0.001000	0.12720	0.001000	0.08648	0.091000	0.18340	1.380000	0.34351	0.608000	0.30000	-0.463000	0.05309	ACG		0.602	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915	
CABIN1	23523	broad.mit.edu	37	22	24452748	24452748	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr22:24452748G>A	ENST00000398319.2	+	10	1572	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	CABIN1_ENST00000405822.2_Missense_Mutation_p.R346H|CABIN1_ENST00000263119.5_Missense_Mutation_p.R396H	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	396					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CGGTCTGCCCGTGTCCGAAAC	0.448																																						uc002zzi.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1186-1188)cGt>cAt		Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.							114.0	118.0	117.0					22																	24452748		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24452748G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1187G>A	22.37:g.24452748G>A	ENSP00000381364:p.Arg396His					CABIN1_uc021wnc.1_Missense_Mutation_p.R346H|CABIN1_uc002zzj.1_Missense_Mutation_p.R346H|CABIN1_uc002zzl.2_Missense_Mutation_p.R396H|CABIN1_uc010guk.1_Missense_Mutation_p.R351H|CABIN1_uc002zzk.2_Missense_Mutation_p.R351H	p.R396H	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			9	1314	+			396					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.1187G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	35	5.442189	0.96187	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.73897	-0.79;0.0;0.0;-0.79;0.0	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.86008	0.5830	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.991	D	0.87078	0.2164	10	0.87932	D	0	.	18.4664	0.90757	0.0:0.0:1.0:0.0	.	351;396;346;396	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	H	351;396;346;351;396;396	ENSP00000394209:R351H;ENSP00000263119:R396H;ENSP00000384694:R346H;ENSP00000412389:R351H;ENSP00000381364:R396H	ENSP00000263119:R396H	R	+	2	0	CABIN1	22782748	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	9.792000	0.99085	2.677000	0.91161	0.558000	0.71614	CGT		0.448	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	
TRIM71	131405	broad.mit.edu	37	3	32933302	32933302	+	Silent	SNP	A	A	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr3:32933302A>G	ENST00000383763.5	+	4	2669	c.2606A>G	c.(2605-2607)tAa>tGa	p.*869*		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	0					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCGTCTTCTAATTGCATTTC	0.488																																						uc003cff.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2605-2607)tAa>tGa		Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.							75.0	80.0	78.0					3																	32933302		1987	4150	6137	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32933302A>G		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2606A>G	3.37:g.32933302A>G							p.*869*	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			3	2669	+			0						Silent	SNP	ENST00000383763.5	37	c.2606A>G	CCDS43060.1																																																																																				0.488	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111	
SI	6476	broad.mit.edu	37	3	164733001	164733001	+	Silent	SNP	A	A	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr3:164733001A>G	ENST00000264382.3	-	33	3971	c.3909T>C	c.(3907-3909)aaT>aaC	p.N1303N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1303	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCTTTGTTTCATTTCCTGAAA	0.348										HNSCC(35;0.089)																												uc003fei.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3907-3909)aaT>aaC		Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	Acarbose(DB00284)						85.0	79.0	81.0					3																	164733001		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164733001A>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3909T>C	3.37:g.164733001A>G		HNSCC(35;0.089)					p.N1303N	NM_001041	NP_001032	P14410	SUIS_HUMAN			32	3972	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1303			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.3909T>C	CCDS3196.1																																																																																				0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
NDST4	64579	broad.mit.edu	37	4	115998231	115998231	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs575572452		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr4:115998231G>A	ENST00000264363.2	-	0	640					NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4						heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCCCAATTTCGTTTCCTAAAG	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17381	0.0		0.0	False		,,,				2504	0.0					uc003ibu.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81								Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.																																						64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115998231G>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.-39C>T	4.37:g.115998231G>A						NDST4_uc010imw.3_Intron		NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	1		-		Ovarian(17;0.156)						Q2KHM8	Translation_Start_Site	SNP	ENST00000264363.2	37		CCDS3706.1																																																																																				0.338	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	
TRIML2	205860	broad.mit.edu	37	4	189012730	189012730	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr4:189012730C>T	ENST00000512729.1	-	7	1335	c.961G>A	c.(961-963)Ggc>Agc	p.G321S	TRIML2_ENST00000326754.3_Missense_Mutation_p.G346S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	321	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGGAAAACGCCAACTGTGTCC	0.517																																						uc011cle.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(1186-1188)Ggc>Agc		Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.							139.0	156.0	150.0					4																	189012730		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189012730C>T	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.961G>A	4.37:g.189012730C>T	ENSP00000422581:p.Gly321Ser					TRIML2_uc003izj.1_Missense_Mutation_p.G149S|TRIML2_uc003izk.1_Missense_Mutation_p.G129S|TRIML2_uc003izl.2_Missense_Mutation_p.G321S	p.G396S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1408	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	321					B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.1186G>A	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147459	0.77888	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	D;D	0.82433	-1.61;-1.61	5.85	5.85	0.93711	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.49916	D	0.000124	D	0.94069	0.8099	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95033	0.8171	10	0.87932	D	0	.	18.0364	0.89305	0.0:1.0:0.0:0.0	.	346;321	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	S	321;346	ENSP00000422581:G321S;ENSP00000317498:G346S	ENSP00000317498:G346S	G	-	1	0	TRIML2	189249724	1.000000	0.71417	0.988000	0.46212	0.003000	0.03518	4.827000	0.62723	2.941000	0.99782	0.655000	0.94253	GGC		0.517	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553	
ADAMTS6	11174	broad.mit.edu	37	5	64520167	64520167	+	IGR	SNP	G	G	A	rs143194045		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr5:64520167G>A								ADAMTS6 (25575 upstream) : ADAMTS6 (72867 downstream)																							CTTTGACATGGCAACTTCTCT	0.408																																						uc003jtp.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(2251-2253)gCc>gTc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.		G	VAL/ALA	0,4406		0,0,2203	173.0	153.0	160.0		2252	5.4	1.0	5	dbSNP_134	160	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS6	NM_197941.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	751/1118	64520167	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64520167G>A																													5.37:g.64520167G>A						ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.A372V	p.A751V	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	17	3066	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	751			Spacer.			Missense_Mutation	SNP		37	c.2252C>T		.	.	.	.	.	.	.	.	.	.	G	19.24	3.789663	0.70337	0.0	1.16E-4	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.53206	0.63;0.63	5.45	5.45	0.79879	ADAM-TS Spacer 1 (1);	0.266496	0.42682	D	0.000663	T	0.53384	0.1793	L	0.52126	1.63	0.80722	D	1	B;B	0.33964	0.434;0.343	B;B	0.43155	0.41;0.41	T	0.46665	-0.9175	10	0.31617	T	0.26	.	19.2919	0.94103	0.0:0.0:1.0:0.0	.	751;751	D6R9L6;Q9UKP5	.;ATS6_HUMAN	V	751;701;751	ENSP00000370443:A751V;ENSP00000423551:A751V	ENSP00000261306:A701V	A	-	2	0	ADAMTS6	64555923	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	6.197000	0.72100	2.566000	0.86566	0.305000	0.20034	GCC	0	0.408								
PCDHA2	56146	broad.mit.edu	37	5	140176553	140176553	+	Silent	SNP	G	G	A	rs369554786		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr5:140176553G>A	ENST00000526136.1	+	1	2004	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	PCDHA2_ENST00000520672.2_Silent_p.S668S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.S668S|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	668	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S668S(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTAGTGTCGTTGGTGGAAA	0.652																																						uc003lhd.2																			2	Substitution - coding silent(2)	p.S668S(2)	prostate(2)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2002-2004)tcG>tcA		Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.		G	,,,	1,4405	2.1+/-5.4	0,1,2202	75.0	75.0	75.0		,2004,,2004	-1.7	1.0	5		75	0,8600		0,0,4300	no	intron,coding-synonymous,intron,coding-synonymous	PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_031411.1,NM_031495.1	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	,668/949,,668/825	140176553	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140176553G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2004G>A	5.37:g.140176553G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.S668S|PCDHAC2_uc011czy.2_Silent_p.S668S	p.S668S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2110	+			679			Cadherin 6.		O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.2004G>A	CCDS54914.1																																																																																				0.652	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
TRIM26	7726	broad.mit.edu	37	6	30164404	30164404	+	Silent	SNP	C	C	T	rs137972961		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr6:30164404C>T	ENST00000454678.2	-	6	1090	c.654G>A	c.(652-654)acG>acA	p.T218T	TRIM26_ENST00000487829.1_5'Flank|TRIM26_ENST00000453195.1_Silent_p.T218T|TRIM26_ENST00000437089.1_Silent_p.T218T	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	218					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						CCCTGCCCTCCGTGAGCTCCT	0.642																																						uc003npr.3																			0				lung(1)|ovary(2)	3						c.(652-654)acG>acA		Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.							42.0	40.0	41.0					6																	30164404		2202	4300	6502	SO:0001819	synonymous_variant	7726						DNA binding|zinc ion binding	g.chr6:30164404C>T	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.654G>A	6.37:g.30164404C>T						TRIM26_uc003nps.3_Silent_p.T218T|TRIM26_uc003npt.3_Silent_p.T218T|TRIM26_uc010jry.3_5'UTR	p.T218T	NM_003449	NP_003440	Q12899	TRI26_HUMAN			4	863	-			218					A6NG96|Q5SRL2	Silent	SNP	ENST00000454678.2	37	c.654G>A	CCDS4678.1																																																																																				0.642	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449	
SIM1	6492	broad.mit.edu	37	6	100911318	100911318	+	Silent	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr6:100911318C>T	ENST00000369208.3	-	2	809	c.27G>A	c.(25-27)gcG>gcA	p.A9A	SIM1_ENST00000262901.4_Silent_p.A9A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	9	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCCTAGTCCGCGCAGCATTTT	0.423																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(25-27)gcG>gcA		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							232.0	239.0	237.0					6																	100911318		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100911318C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.27G>A	6.37:g.100911318C>T						SIM1_uc021zdg.1_Silent_p.A9A|SIM1_uc010kcu.3_Silent_p.A9A	p.A9A	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	0	494	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	9					Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.27G>A	CCDS5045.1																																																																																				0.423	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
FNDC1	84624	broad.mit.edu	37	6	159655381	159655381	+	Silent	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr6:159655381G>A	ENST00000297267.9	+	11	4037	c.3837G>A	c.(3835-3837)ccG>ccA	p.P1279P	FNDC1_ENST00000340366.6_Silent_p.P1216P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1279					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCCCTGGCCGCAGTACACCA	0.701																																						uc010kjv.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3835-3837)ccG>ccA		Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.							14.0	17.0	16.0					6																	159655381		1987	4087	6074	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159655381G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3837G>A	6.37:g.159655381G>A						FNDC1_uc010kjw.1_Silent_p.P1164P	p.P1279P	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	10	4037	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1279					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.3837G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	4.929	0.172652	0.09391	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.91	-4.39	0.03611	.	.	.	.	.	T	0.06600	0.0169	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30851	-0.9964	4	.	.	.	-6.0162	3.1724	0.06556	0.3245:0.2604:0.3289:0.0862	.	.	.	.	T	1175	.	.	A	+	1	0	FNDC1	159575371	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.063000	0.03465	-1.430000	0.01985	-1.956000	0.00482	GCA		0.701	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
CHN2	1124	broad.mit.edu	37	7	29438049	29438049	+	Silent	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr7:29438049C>T	ENST00000222792.6	+	5	767	c.237C>T	c.(235-237)gcC>gcT	p.A79A	CHN2_ENST00000539389.1_Intron|CHN2_ENST00000546235.1_Silent_p.A64A|CHN2_ENST00000539406.1_Silent_p.A154A|CHN2_ENST00000495789.2_Silent_p.A92A|CHN2_ENST00000435288.2_Silent_p.A79A	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	79	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TGGAGGGTGCCTACATCCTTA	0.522																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.3																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(235-237)gcC>gcT		Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.							153.0	127.0	136.0					7																	29438049		2203	4300	6503	SO:0001819	synonymous_variant	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29438049C>T	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.237C>T	7.37:g.29438049C>T						CHN2_uc011jzs.2_Silent_p.A154A|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Silent_p.A44A|CHN2_uc011jzt.2_Silent_p.A92A|CHN2_uc010kvd.3_Intron|CHN2_uc011jzu.2_Silent_p.A64A	p.A79A	NM_004067	NP_004058	P52757	CHIO_HUMAN			4	674	+			79			SH2.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Silent	SNP	ENST00000222792.6	37	c.237C>T	CCDS5420.1																																																																																				0.522	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067	
ASB4	51666	broad.mit.edu	37	7	95115358	95115358	+	Silent	SNP	A	A	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr7:95115358A>G	ENST00000325885.5	+	1	146	c.75A>G	c.(73-75)ctA>ctG	p.L25L	ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Silent_p.L25L	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	25					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTGAGGCGCTAAAGTCCAATG	0.438																																						uc011kij.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(73-75)ctA>ctG		Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.							84.0	84.0	84.0					7																	95115358		2203	4300	6503	SO:0001819	synonymous_variant	51666				intracellular signal transduction			g.chr7:95115358A>G	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.75A>G	7.37:g.95115358A>G						ASB4_uc003unx.3_Silent_p.L25L	p.L25L	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		0	146	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		25					A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	ENST00000325885.5	37	c.75A>G	CCDS5641.1																																																																																				0.438	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116	
PODXL	5420	broad.mit.edu	37	7	131195806	131195807	+	Frame_Shift_Ins	INS	-	-	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr7:131195806_131195807insG	ENST00000378555.3	-	2	733_734	c.486_487insC	c.(484-489)agcagcfs	p.S163fs	PODXL_ENST00000541194.1_Frame_Shift_Ins_p.S165fs|PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000537928.1_Frame_Shift_Ins_p.S163fs|PODXL_ENST00000322985.9_Frame_Shift_Ins_p.S163fs			O00592	PODXL_HUMAN	podocalyxin-like	163	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACACTGTGGCTGCTTTTCCCCC	0.535																																						uc003vqw.4																			0		p.K161E(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(484-489)agcagcfs		Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131195806_131195807insG		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.487dupC	7.37:g.131195807_131195807dupG	ENSP00000367817:p.Ser163fs					PODXL_uc003vqx.4_Frame_Shift_Ins_p.S162fs	p.S162fs	NM_001018111	NP_001018121	O00592	PODXL_HUMAN			1	744_745	-	Melanoma(18;0.162)		162			Thr-rich.		A6NHX8|Q52LZ7|Q53ER6	Frame_Shift_Ins	INS	ENST00000378555.3	37	c.486_487insC	CCDS34755.1																																																																																				0.535	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	
ANK1	286	broad.mit.edu	37	8	41566469	41566469	+	Missense_Mutation	SNP	C	C	T	rs564238506		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr8:41566469C>T	ENST00000347528.4	-	17	1908	c.1825G>A	c.(1825-1827)Gct>Act	p.A609T	ANK1_ENST00000396945.1_Missense_Mutation_p.A609T|ANK1_ENST00000352337.4_Missense_Mutation_p.A609T|ANK1_ENST00000379758.2_Missense_Mutation_p.A609T|ANK1_ENST00000289734.7_Missense_Mutation_p.A609T|ANK1_ENST00000265709.8_Missense_Mutation_p.A642T|ANK1_ENST00000396942.1_Missense_Mutation_p.A609T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	609	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A609T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCTTGGCAGCGATGTGCAAA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		18718	0.0		0.0	False		,,,				2504	0.001					uc003xok.3																			1	Substitution - Missense(1)	p.A609T(2)	central_nervous_system(1)	breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(1825-1827)Gct>Act		Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.							65.0	59.0	61.0					8																	41566469		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41566469C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1825G>A	8.37:g.41566469C>T	ENSP00000339620:p.Ala609Thr					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_5'Flank|ANK1_uc003xoi.3_Missense_Mutation_p.A609T|ANK1_uc003xoj.3_Missense_Mutation_p.A609T|ANK1_uc003xol.3_Missense_Mutation_p.A609T|ANK1_uc003xom.3_Missense_Mutation_p.A642T	p.A609T	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		16	1909	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	609			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.1825G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929995	0.92389	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.51	5.51	0.81932	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.86104	0.5853	M	0.91768	3.24	0.80722	D	1	P;P;D;D;P	0.56035	0.685;0.903;0.974;0.967;0.539	B;B;B;B;B	0.42245	0.36;0.36;0.381;0.263;0.276	D	0.90018	0.4126	10	0.87932	D	0	.	19.4035	0.94640	0.0:1.0:0.0:0.0	.	642;609;609;609;609	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	T	609;609;609;609;609;609;642;609	ENSP00000339620:A609T;ENSP00000289734:A609T;ENSP00000369082:A609T;ENSP00000380149:A609T;ENSP00000380147:A609T;ENSP00000309131:A609T;ENSP00000265709:A642T	ENSP00000265709:A642T	A	-	1	0	ANK1	41685626	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	7.790000	0.85794	2.586000	0.87340	0.561000	0.74099	GCT		0.582	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
ATP6V0D2	245972	broad.mit.edu	37	8	87162356	87162356	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr8:87162356C>T	ENST00000285393.3	+	6	797	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	219					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GGCCGACAGACGTGCTTTTAT	0.408																																						uc003ydp.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						c.(655-657)Cgt>Tgt		Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.							92.0	85.0	87.0					8																	87162356		2203	4300	6503	SO:0001583	missense	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87162356C>T	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.655C>T	8.37:g.87162356C>T	ENSP00000285393:p.Arg219Cys						p.R219C	NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN			5	724	+			219						Missense_Mutation	SNP	ENST00000285393.3	37	c.655C>T	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911347	0.72983	.	.	ENSG00000147614	ENST00000285393	T	0.36699	1.24	6.17	5.28	0.74379	.	0.111469	0.64402	D	0.000012	T	0.68732	0.3033	H	0.94886	3.595	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	T	0.79708	-0.1690	10	0.87932	D	0	-17.501	15.884	0.79226	0.1364:0.8636:0.0:0.0	.	219	Q8N8Y2	VA0D2_HUMAN	C	219	ENSP00000285393:R219C	ENSP00000285393:R219C	R	+	1	0	ATP6V0D2	87231472	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	1.377000	0.34317	1.584000	0.49913	0.655000	0.94253	CGT		0.408	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	
ADAMTSL1	92949	broad.mit.edu	37	9	18777555	18777555	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr9:18777555C>T	ENST00000380548.4	+	19	3667	c.3328C>T	c.(3328-3330)Cgc>Tgc	p.R1110C		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1110						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGATCTTCCGCAGCCACCT	0.647																																						uc003zne.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(3328-3330)Cgc>Tgc		Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.							19.0	23.0	21.0					9																	18777555		2054	4189	6243	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777555C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3328C>T	9.37:g.18777555C>T	ENSP00000369921:p.Arg1110Cys						p.R1110C	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	18	3480	+			1110					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.3328C>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330105	0.60743	.	.	ENSG00000178031	ENST00000380548	T	0.64260	-0.09	5.88	2.72	0.32119	.	0.063246	0.08080	U	1.000000	T	0.48409	0.1498	N	0.14661	0.345	0.80722	D	1	D	0.62365	0.991	B	0.44315	0.446	T	0.49485	-0.8935	10	0.87932	D	0	.	9.6655	0.39981	0.326:0.5741:0.0999:0.0	.	1110	Q8N6G6	ATL1_HUMAN	C	1110	ENSP00000369921:R1110C	ENSP00000369921:R1110C	R	+	1	0	ADAMTSL1	18767555	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	2.486000	0.45259	1.458000	0.47871	0.557000	0.71058	CGC		0.647	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
DCAF8L2	347442	broad.mit.edu	37	X	27765562	27765562	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:27765562C>T	ENST00000451261.2	+	5	949	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	184										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGCCCTGCCCCGACCTCGCTG	0.612																																						uc011mjy.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(550-552)Cga>Tga		Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.							48.0	43.0	45.0					X																	27765562		692	1591	2283	SO:0001587	stop_gained	347442							g.chrX:27765562C>T		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.550C>T	X.37:g.27765562C>T	ENSP00000462745:p.Arg184*						p.R184*	NM_001136533	NP_001130005					0	637	+								B2RXH9|J3KT06	Nonsense_Mutation	SNP	ENST00000451261.2	37	c.550C>T	CCDS59162.1																																																																																				0.612	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354	
ZNF630	57232	broad.mit.edu	37	X	47918931	47918931	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:47918931G>C	ENST00000409324.3	-	5	1126	c.900C>G	c.(898-900)ttC>ttG	p.F300L	ZNF630_ENST00000442455.3_Missense_Mutation_p.F286L|ZNF630_ENST00000276054.4_Missense_Mutation_p.F176L|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						ATTTCTCACTGAAGGCTTTCC	0.413																																						uc004div.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(898-900)ttC>ttG		Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.							76.0	68.0	71.0					X																	47918931		2196	4289	6485	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47918931G>C	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.900C>G	X.37:g.47918931G>C	ENSP00000386393:p.Phe300Leu					ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Missense_Mutation_p.F286L|ZNF630_uc022bvs.1_Missense_Mutation_p.F300L	p.F300L	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN			4	1152	-			300					F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.900C>G	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	8.635	0.894612	0.17613	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.46063	0.88;0.88;0.88	2.16	-0.719	0.11201	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65964	0.2742	M	0.92604	3.325	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.53940	-0.8367	9	0.72032	D	0.01	.	6.1161	0.20127	0.4695:0.0:0.5305:0.0	.	300	Q2M218	ZN630_HUMAN	L	286;176;300	ENSP00000393163:F286L;ENSP00000354683:F176L;ENSP00000386393:F300L	ENSP00000354683:F176L	F	-	3	2	ZNF630	47803875	0.213000	0.23551	0.007000	0.13788	0.131000	0.20780	0.466000	0.22019	-0.182000	0.10602	-0.268000	0.10319	TTC		0.413	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735	
DCX	1641	broad.mit.edu	37	X	110644549	110644549	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:110644549T>G	ENST00000338081.3	-	3	788	c.617A>C	c.(616-618)tAt>tCt	p.Y206S	DCX_ENST00000356915.2_Missense_Mutation_p.Y125S|DCX_ENST00000488120.1_Missense_Mutation_p.Y125S|DCX_ENST00000356220.3_Missense_Mutation_p.Y125S|DCX_ENST00000371993.2_Missense_Mutation_p.Y125S|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	206	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.		Y -> D (in SBHX). {ECO:0000269|PubMed:9618162}.|Y -> H (in LISX1 and SBHX). {ECO:0000269|PubMed:9489699}.		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.Y125F(1)|p.Y206F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGAACAGACATAGCTTTCCCC	0.378																																						uc004epd.3																			2	Substitution - Missense(2)	p.Y206F(2)|p.Y125F(1)	lung(2)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(616-618)tAt>tCt		Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.							77.0	73.0	75.0					X																	110644549		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644549T>G	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.617A>C	X.37:g.110644549T>G	ENSP00000337697:p.Tyr206Ser					DCX_uc011msv.2_Missense_Mutation_p.Y206S|DCX_uc004epe.3_Missense_Mutation_p.Y125S|DCX_uc004epf.3_Missense_Mutation_p.Y125S|DCX_uc004epg.3_Missense_Mutation_p.Y125S	p.Y206S	NM_000555	NP_835366	O43602	DCX_HUMAN			2	789	-			206		Y -> D (in SBHX).|Y -> H (in LISX1 and SBHX).	Doublecortin 1.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.617A>C	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.5|20.5	3.994715|3.994715	0.74703|0.74703	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	.|D;D;D;D;D	.|0.96491	.|-4.03;-4.03;-4.03;-4.03;-4.03	4.74|4.74	4.74|4.74	0.60224|0.60224	.|Doublecortin domain (5);	.|0.189770	.|0.46442	.|D	.|0.000283	D|D	0.98544|0.98544	0.9514|0.9514	H|H	0.94503|0.94503	3.545|3.545	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.87578	.|0.998;0.998	D|D	0.99651|0.99651	1.0991|1.0991	5|10	.|0.87932	.|D	.|0	.|.	13.9428|13.9428	0.64066|0.64066	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|194;206	.|B4DM53;O43602	.|.;DCX_HUMAN	L|S	198|125;125;206;125;125	.|ENSP00000349385:Y125S;ENSP00000361061:Y125S;ENSP00000337697:Y206S;ENSP00000348553:Y125S;ENSP00000419861:Y125S	.|ENSP00000337697:Y206S	M|Y	-|-	1|2	0|0	DCX|DCX	110531205|110531205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.020000|8.020000	0.88740|0.88740	1.826000|1.826000	0.53198|0.53198	0.486000|0.486000	0.48141|0.48141	ATG|TAT		0.378	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153	
AIFM1	9131	broad.mit.edu	37	X	129264005	129264005	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:129264005G>T	ENST00000287295.3	-	15	1940	c.1710C>A	c.(1708-1710)gaC>gaA	p.D570E	AIFM1_ENST00000319908.3_Missense_Mutation_p.D566E|AIFM1_ENST00000440263.1_Missense_Mutation_p.D218E|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Missense_Mutation_p.D231E|AIFM1_ENST00000346424.2_Missense_Mutation_p.D283E	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	570					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CGACCACTTTGTCCCTGAGGT	0.517																																						uc004evg.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(1708-1710)gaC>gaA		Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							191.0	170.0	177.0					X																	129264005		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129264005G>T	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1710C>A	X.37:g.129264005G>T	ENSP00000287295:p.Asp570Glu					AIFM1_uc011mur.2_Missense_Mutation_p.D218E|AIFM1_uc011mus.2_3'UTR|AIFM1_uc004evh.3_Missense_Mutation_p.D566E|AIFM1_uc004evi.3_Missense_Mutation_p.D283E|AIFM1_uc004evk.3_Missense_Mutation_p.D218E	p.D570E	NM_004208	NP_004199	O95831	AIFM1_HUMAN			14	1941	-			570					A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.1710C>A	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546026	0.45383	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.85773	0.62;0.66;-2.03;0.65;-1.04	4.88	0.712	0.18167	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.045725	0.85682	N	0.000000	T	0.77164	0.4090	L	0.46157	1.445	0.80722	D	1	B;B;B	0.26547	0.037;0.152;0.094	B;B;B	0.28916	0.024;0.096;0.044	T	0.66512	-0.5905	10	0.45353	T	0.12	-11.4315	6.0607	0.19837	0.3402:0.1413:0.5184:0.0	.	283;566;570	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	E	231;283;566;218;570	ENSP00000431222:D231E;ENSP00000316320:D283E;ENSP00000315122:D566E;ENSP00000405879:D218E;ENSP00000287295:D570E	ENSP00000287295:D570E	D	-	3	2	AIFM1	129091686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.317000	0.33631	0.111000	0.17947	0.600000	0.82982	GAC		0.517	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2		
ATP6AP1	537	broad.mit.edu	37	X	153663708	153663708	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:153663708G>A	ENST00000369762.2	+	9	1121	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	354					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCTCCGTCGCCTACTTCAA	0.597																																						uc004flf.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(1060-1062)Gcc>Acc		Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.							65.0	52.0	56.0					X																	153663708		2203	4300	6503	SO:0001583	missense	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153663708G>A	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1060G>A	X.37:g.153663708G>A	ENSP00000358777:p.Ala354Thr					ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Missense_Mutation_p.A314T|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.4_5'Flank	p.A354T	NM_001183	NP_001174	Q15904	VAS1_HUMAN			8	1121	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		354					A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	37	c.1060G>A	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931356	0.34096	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000445849	.	.	.	5.69	-0.283	0.12874	.	0.635724	0.18174	N	0.149376	T	0.43233	0.1238	M	0.78049	2.395	0.09310	N	1	B;B	0.26120	0.061;0.142	B;B	0.24155	0.051;0.051	T	0.36359	-0.9751	9	0.20519	T	0.43	-0.4665	9.6942	0.40147	0.4819:0.0:0.5181:0.0	.	314;354	B3KR70;Q15904	.;VAS1_HUMAN	T	354;268;178	.	ENSP00000358777:A354T	A	+	1	0	ATP6AP1	153316902	0.002000	0.14202	0.000000	0.03702	0.190000	0.23558	0.957000	0.29215	-0.582000	0.05929	-0.196000	0.12772	GCC		0.597	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183	
