#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
OR4C11	219429	broad.mit.edu	37	11	55371229	55371229	+	Silent	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:55371229A>G	ENST00000302231.4	-	1	645	c.621T>C	c.(619-621)agT>agC	p.S207S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TCATGAAACTACTTGAGCAAA	0.423																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(619-621)agT>agC		olfactory receptor, family 4, subfamily C, member 11							85.0	72.0	77.0					11																	55371229		2178	4006	6184	SO:0001819	synonymous_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371229A>G	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.621T>C	11.37:g.55371229A>G							p.S207S	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	645	-			207					B9EIL4|Q8NGL8	Silent	SNP	ENST00000302231.4	37	c.621T>C	CCDS31503.1																																																																																				0.423	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		93	25	0	0	0	1	0	93	25				
DNAH10	196385	broad.mit.edu	37	12	124325908	124325908	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:124325908G>T	ENST00000409039.3	+	29	4847	c.4822G>T	c.(4822-4824)Gat>Tat	p.D1608Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1608	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAATGACGGCGATAGTGGAGA	0.517																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4822-4824)Gat>Tat		dynein, axonemal, heavy chain 10							231.0	229.0	229.0					12																	124325908		2026	4183	6209	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124325908G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4822G>T	12.37:g.124325908G>T	ENSP00000386770:p.Asp1608Tyr						p.D1608Y	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	29	4847	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1608			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4822G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	9.472	1.095883	0.20552	.	.	ENSG00000197653	ENST00000409039	T	0.61980	0.06	5.23	5.23	0.72850	Dynein heavy chain, domain-2 (1);	0.471022	0.21676	U	0.070798	T	0.73055	0.3538	M	0.72894	2.215	0.18873	N	0.999985	P	0.48834	0.916	P	0.51297	0.665	T	0.68655	-0.5351	10	0.62326	D	0.03	.	18.7853	0.91952	0.0:0.0:1.0:0.0	.	1608	Q8IVF4	DYH10_HUMAN	Y	1608	ENSP00000386770:D1608Y	ENSP00000386770:D1608Y	D	+	1	0	DNAH10	122891861	0.996000	0.38824	0.754000	0.31244	0.011000	0.07611	4.861000	0.62969	2.457000	0.83068	0.561000	0.74099	GAT		0.517	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			124	212	1	0	6.58568e-60	1	7.8205e-60	124	212				
INPP5D	3635	broad.mit.edu	37	2	234113018	234113018	+	Silent	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:234113018C>T	ENST00000359570.5	+	28	3186	c.3186C>T	c.(3184-3186)ccC>ccT	p.P1062P	INPP5D_ENST00000450745.1_Silent_p.P826P|INPP5D_ENST00000455936.2_Silent_p.P826P|RN7SL32P_ENST00000580514.1_RNA			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1074	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)		GCGAGGGGCCCGGCAAGCAGG	0.706																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(3184-3186)ccC>ccT		inositol polyphosphate-5-phosphatase, 145kDa							16.0	22.0	20.0					2																	234113018		1933	4116	6049	SO:0001819	synonymous_variant	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.chr2:234113018C>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.3186C>T	2.37:g.234113018C>T						INPP5D_ENST00000455936.2_Missense_Mutation_p.826_826insP|INPP5D_ENST00000450745.1_Missense_Mutation_p.826_826insP	p.1062_1062insP			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)	28	3186	+		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)	0			Pro-rich.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.3186C>T																																																																																					0.706	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		6	67	0	0	0	1	0	6	67				
PGD	5226	broad.mit.edu	37	1	10479685	10479685	+	Splice_Site	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:10479685A>G	ENST00000270776.8	+	13	1370		c.e13-1		PGD_ENST00000498356.1_Splice_Site|PGD_ENST00000541529.1_Splice_Site|PGD_ENST00000538557.1_Splice_Site	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase						carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CTCGTTTCCTAGGCTCAGCGG	0.587																																						ENST00000538557.1																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14						c.e13-1		phosphogluconate dehydrogenase							150.0	130.0	137.0					1																	10479685		2203	4300	6503	SO:0001630	splice_region_variant	5226				pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding	g.chr1:10479685A>G	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.1333-1A>G	1.37:g.10479685A>G						PGD_ENST00000498356.1_Splice_Site|PGD_ENST00000541529.1_Splice_Site|PGD_ENST00000270776.8_Splice_Site				P52209	6PGD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	13	1537	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)						A8K2Y9|B4DQJ8|Q9BWD8	Splice_Site	SNP	ENST00000270776.8	37		CCDS113.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916783	0.52546	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1686	0.72850	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PGD	10402272	1.000000	0.71417	0.909000	0.35828	0.465000	0.32709	8.829000	0.92055	2.041000	0.60428	0.454000	0.30748	.		0.587	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631	Intron	50	94	0	0	0	1	0	50	94				
ANKRD36	375248	broad.mit.edu	37	2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	rs111515821		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:97869979G>T	ENST00000461153.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000420699.2_Missense_Mutation_p.D1014Y			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328																																						ENST00000420699.2																			5	Substitution - Missense(5)	p.D1014Y(5)	endometrium(2)|skin(2)|kidney(1)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(3040-3042)Gat>Tat		ankyrin repeat domain 36							29.0	35.0	33.0					2																	97869979		692	1589	2281	SO:0001583	missense	375248							g.chr2:97869979G>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3040G>T	2.37:g.97869979G>T	ENSP00000419530:p.Asp1014Tyr					ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3284	+			1014					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.3040G>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	2.724	-0.265945	0.05754	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.76578	-1.03;-1.03	0.63	0.63	0.17693	.	.	.	.	.	T	0.79287	0.4420	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.66440	-0.5923	8	0.52906	T	0.07	.	.	.	.	.	1014	A6QL64	AN36A_HUMAN	Y	1014;1014;376	ENSP00000419530:D1014Y;ENSP00000391950:D1014Y	ENSP00000391950:D1014Y	D	+	1	0	ANKRD36	97233706	0.010000	0.17322	0.018000	0.16275	0.005000	0.04900	0.408000	0.21065	0.612000	0.30071	0.175000	0.17021	GAT		0.328	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			5	44	1	0	1.6384e-10	1	1.83115e-10	5	44				
TBCD	6904	broad.mit.edu	37	17	80755631	80755631	+	Splice_Site	SNP	A	A	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:80755631A>T	ENST00000355528.4	+	8	901		c.e8-1		TBCD_ENST00000397466.2_Splice_Site|TBCD_ENST00000539345.2_Splice_Site|RP11-567O16.1_ENST00000576836.1_RNA	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D						'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.?(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTTTTTTTTTAGGCACAAATA	0.264																																						ENST00000355528.4																			1	Unknown(1)	p.?(1)	lung(1)								c.e8-1		tubulin folding cofactor D							75.0	67.0	69.0					17																	80755631		1785	4060	5845	SO:0001630	splice_region_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80755631A>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.772-1A>T	17.37:g.80755631A>T						TBCD_ENST00000397466.2_Splice_Site|TBCD_ENST00000539345.2_Splice_Site		NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		8	901	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)						O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Splice_Site	SNP	ENST00000355528.4	37		CCDS45818.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.687291	0.68157	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000334614;ENST00000536182	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0952	0.53750	1.0:0.0:0.0:0.0	rs57088056	.	.	.	.	-1	.	.	.	+	.	.	TBCD	78348920	1.000000	0.71417	0.980000	0.43619	0.900000	0.52787	6.308000	0.72820	2.111000	0.64477	0.487000	0.48397	.		0.264	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993	Intron	5	38	0	0	0	1	0	5	38				
CEACAM5	1048	broad.mit.edu	37	19	42213889	42213889	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:42213889T>C	ENST00000221992.6	+	2	469	c.355T>C	c.(355-357)Ttc>Ctc	p.F119L	CEACAM7_ENST00000599715.1_5'Flank|CEACAM5_ENST00000405816.1_Missense_Mutation_p.F119L|CEACAM5_ENST00000398599.4_Missense_Mutation_p.F119L|CEA_ENST00000598976.1_Missense_Mutation_p.F119L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	119	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGACACAGGATTCTACACCCT	0.493																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(355-357)Ttc>Ctc		carcinoembryonic antigen-related cell adhesion molecule 5							229.0	230.0	229.0					19																	42213889		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42213889T>C	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.355T>C	19.37:g.42213889T>C	ENSP00000221992:p.Phe119Leu					CEA_ENST00000598976.1_Missense_Mutation_p.F119L|CEACAM5_ENST00000405816.1_Missense_Mutation_p.F119L|CEACAM5_ENST00000398599.4_Missense_Mutation_p.F119L	p.F119L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	2	469	+			119			Ig-like 1.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.355T>C	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	5.246|5.246	0.230903|0.230903	0.09969|0.09969	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816|ENST00000398599	T;T|.	0.62788|.	-0.0;-0.0|.	3.09|3.09	-2.87|-2.87	0.05700|0.05700	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.35828|0.35828	0.0945|0.0945	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B;B;B|.	0.30193|.	0.007;0.174;0.272|.	B;B;B|.	0.38803|.	0.015;0.282;0.144|.	T|T	0.39187|0.39187	-0.9626|-0.9626	9|5	0.26408|.	T|.	0.33|.	.|.	3.8331|3.8331	0.08882|0.08882	0.3498:0.0:0.3826:0.2676|0.3498:0.0:0.3826:0.2676	.|.	119;119;119|.	Q8N4D0;P06731;Q53G30|.	.;CEAM5_HUMAN;.|.	L|T	119|115	ENSP00000221992:F119L;ENSP00000385072:F119L|.	ENSP00000221992:F119L|.	F|I	+|+	1|2	0|0	CEACAM5|CEACAM5	46905729|46905729	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.012000|0.012000	0.07955|0.07955	-2.221000|-2.221000	0.01216|0.01216	-0.391000|-0.391000	0.07763|0.07763	0.254000|0.254000	0.18369|0.18369	TTC|ATT		0.493	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		5	535	0	0	0	1	0	5	535				
LRRC3B	116135	broad.mit.edu	37	3	26751539	26751539	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:26751539C>G	ENST00000396641.2	+	2	968	c.376C>G	c.(376-378)Caa>Gaa	p.Q126E	LRRC3B_ENST00000417744.1_Missense_Mutation_p.Q126E|LRRC3B_ENST00000456208.2_Missense_Mutation_p.Q126E|AC114877.3_ENST00000446601.1_lincRNA	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	126						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CAATCGGATTCAAAGTGTGCA	0.478																																						ENST00000396641.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(376-378)Caa>Gaa		leucine rich repeat containing 3B							61.0	57.0	58.0					3																	26751539		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751539C>G	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.376C>G	3.37:g.26751539C>G	ENSP00000379880:p.Gln126Glu					LRRC3B_ENST00000456208.2_Missense_Mutation_p.Q126E|LRRC3B_ENST00000417744.1_Missense_Mutation_p.Q126E	p.Q126E	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN			2	968	+			126					Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.376C>G	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	C	0.792	-0.758420	0.03019	.	.	ENSG00000179796	ENST00000396641;ENST00000432040;ENST00000417744;ENST00000456208	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	6.17	6.17	0.99709	.	0.107163	0.64402	D	0.000006	T	0.81123	0.4757	N	0.17674	0.51	0.38810	D	0.955405	B	0.13594	0.008	B	0.12156	0.007	T	0.75184	-0.3407	10	0.23891	T	0.37	-8.7936	14.0567	0.64774	0.255:0.745:0.0:0.0	.	126	Q96PB8	LRC3B_HUMAN	E	126	ENSP00000379880:Q126E;ENSP00000398184:Q126E;ENSP00000406370:Q126E;ENSP00000394940:Q126E	ENSP00000379880:Q126E	Q	+	1	0	LRRC3B	26726543	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.109000	0.31135	2.941000	0.99782	0.655000	0.94253	CAA		0.478	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		4	113	0	0	0	1	0	4	113				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	36	0	0	0	1	0	4	36				
C11orf80	79703	broad.mit.edu	37	11	66555677	66555677	+	Silent	SNP	T	T	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:66555677T>G	ENST00000360962.4	+	5	577	c.570T>G	c.(568-570)acT>acG	p.T190T	C11orf80_ENST00000525449.2_Silent_p.T35T|C11orf80_ENST00000540737.1_Silent_p.T24T|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000532565.2_5'UTR|C11orf80_ENST00000346672.4_Silent_p.T35T|C11orf80_ENST00000527634.1_Intron	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	190										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						TGACTTGGACTTCAGAGGAAG	0.418																																						ENST00000360962.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(568-570)acT>acG		chromosome 11 open reading frame 80							98.0	93.0	95.0					11																	66555677		1888	4114	6002	SO:0001819	synonymous_variant	79703							g.chr11:66555677T>G			11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.570T>G	11.37:g.66555677T>G						C11orf80_ENST00000532565.2_5'UTR|C11orf80_ENST00000346672.4_Silent_p.T35T|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000540737.1_Silent_p.T24T|C11orf80_ENST00000525449.2_Silent_p.T35T|C11orf80_ENST00000527634.1_Intron	p.T190T	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN			5	577	+			35					Q9H677	Silent	SNP	ENST00000360962.4	37	c.570T>G	CCDS53664.1	.	.	.	.	.	.	.	.	.	.	T	0.324	-0.960410	0.02267	.	.	ENSG00000173715	ENST00000532089	.	.	.	5.38	4.24	0.50183	.	.	.	.	.	T	0.59838	0.2223	.	.	.	0.44323	D	0.997202	.	.	.	.	.	.	T	0.55749	-0.8092	4	.	.	.	.	9.4236	0.38565	0.0:0.0:0.1793:0.8207	.	.	.	.	R	16	.	.	L	+	2	0	C11orf80	66312253	0.997000	0.39634	0.064000	0.19789	0.153000	0.21895	0.717000	0.25851	0.866000	0.35629	0.533000	0.62120	CTT		0.418	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		13	107	0	0	0	1	0	13	107				
GNL3L	54552	broad.mit.edu	37	X	54581027	54581027	+	Silent	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:54581027T>C	ENST00000336470.4	+	14	1487	c.1348T>C	c.(1348-1350)Ttg>Ctg	p.L450L	GNL3L_ENST00000360845.2_Silent_p.L450L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	450					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TGATGAGCTGTTGGGTGACAC	0.522																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1348-1350)Ttg>Ctg		guanine nucleotide binding protein-like 3 (nucleolar)-like							158.0	118.0	132.0					X																	54581027		2203	4300	6503	SO:0001819	synonymous_variant	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54581027T>C	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1348T>C	X.37:g.54581027T>C						GNL3L_ENST00000360845.2_Silent_p.L450L	p.L450L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			14	1487	+			450						Silent	SNP	ENST00000336470.4	37	c.1348T>C	CCDS14360.1																																																																																				0.522	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		4	102	0	0	0	1	0	4	102				
KIF2B	84643	broad.mit.edu	37	17	51901793	51901793	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:51901793G>C	ENST00000268919.4	+	1	1555	c.1399G>C	c.(1399-1401)Gaa>Caa	p.E467Q		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	467	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E467*(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGGCAGCTGGAAGGGGCAGA	0.493																																						ENST00000268919.4																			1	Substitution - Nonsense(1)	p.E467*(1)	lung(1)	NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1399-1401)Gaa>Caa		kinesin family member 2B							47.0	44.0	45.0					17																	51901793		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901793G>C	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1399G>C	17.37:g.51901793G>C	ENSP00000268919:p.Glu467Gln						p.E467Q	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1555	+			467			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1399G>C	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988047	0.74589	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	D	0.85088	-1.94	5.73	4.76	0.60689	Kinesin, motor domain (4);	0.000000	0.45867	D	0.000339	D	0.94886	0.8347	H	0.96208	3.785	0.48236	D	0.999615	D	0.76494	0.999	D	0.83275	0.996	D	0.96622	0.9460	10	0.87932	D	0	.	16.2257	0.82288	0.0:0.133:0.867:0.0	.	467	Q8N4N8	KIF2B_HUMAN	Q	467;355	ENSP00000268919:E467Q	ENSP00000268919:E467Q	E	+	1	0	KIF2B	49256792	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.967000	0.87967	1.540000	0.49301	0.655000	0.94253	GAA		0.493	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		6	87	0	0	0	1	0	6	87				
HSPG2	3339	broad.mit.edu	37	1	22168605	22168605	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:22168605G>A	ENST00000374695.3	-	69	9162	c.9083C>T	c.(9082-9084)cCg>cTg	p.P3028L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3028	Ig-like C2-type 16.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCTGCTGGGCGGGTCGATGGA	0.677																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(9082-9084)cCg>cTg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						31.0	34.0	33.0					1																	22168605		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22168605G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9083C>T	1.37:g.22168605G>A	ENSP00000363827:p.Pro3028Leu						p.P3028L	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	69	9162	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3028			Ig-like C2-type 16.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.9083C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018736	0.93404	.	.	ENSG00000142798	ENST00000374695	T	0.43688	0.94	4.8	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37623	N	0.002020	T	0.64148	0.2572	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67225	-0.5724	10	0.54805	T	0.06	.	16.4402	0.83898	0.0:0.0:1.0:0.0	.	968;3028	Q59EG0;P98160	.;PGBM_HUMAN	L	3028	ENSP00000363827:P3028L	ENSP00000363827:P3028L	P	-	2	0	HSPG2	22041192	1.000000	0.71417	0.995000	0.50966	0.910000	0.53928	9.045000	0.93812	2.203000	0.70933	0.561000	0.74099	CCG		0.677	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		39	51	0	0	0	1	0	39	51				
MAGOH	4116	broad.mit.edu	37	1	53692717	53692717	+	Silent	SNP	C	C	T	rs200084732	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:53692717C>T	ENST00000371470.3	-	5	602	c.441G>A	c.(439-441)taG>taA	p.*147*	MAGOH_ENST00000371466.4_Silent_p.*110*|RP5-1024G6.7_ENST00000569869.1_RNA	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	0					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						AATATTCAGTCTAGATTGGTT	0.368																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(439-441)taG>taA		mago-nashi homolog, proliferation-associated (Drosophila)																																				SO:0001819	synonymous_variant	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692717C>T	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.441G>A	1.37:g.53692717C>T						MAGOH_ENST00000371466.4_Silent_p.*110*	p.*147*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			5	602	-			0					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Silent	SNP	ENST00000371470.3	37	c.441G>A	CCDS577.1																																																																																				0.368	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		4	55	0	0	0	1	0	4	55				
LAMA2	3908	broad.mit.edu	37	6	129781361	129781361	+	Missense_Mutation	SNP	G	G	A	rs142164767	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:129781361G>A	ENST00000421865.2	+	49	6933	c.6884G>A	c.(6883-6885)cGt>cAt	p.R2295H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2295	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATGCTGTACGTGTGATTACA	0.383													G|||	4	0.000798722	0.0	0.0	5008	,	,		20882	0.004		0.0	False		,,,				2504	0.0					ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(6883-6885)cGt>cAt		laminin, alpha 2		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	145.0	132.0	137.0		6884,6884	4.9	1.0	6	dbSNP_134	137	0,8600		0,0,4300	yes	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2295/3123,2295/3119	129781361	1,13005	2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129781361G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6884G>A	6.37:g.129781361G>A	ENSP00000400365:p.Arg2295His						p.R2295H	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	49	6933	+			2295			Laminin G-like 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.6884G>A	CCDS5138.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	18.64	3.667755	0.67814	2.27E-4	0.0	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.75050	-0.9	5.78	4.9	0.64082	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.186746	0.53938	N	0.000047	T	0.67970	0.2950	L	0.27053	0.805	0.43069	D	0.9947	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.70139	-0.4954	9	.	.	.	.	10.8733	0.46896	0.1437:0.0:0.8563:0.0	.	2296;2295	A6NF00;P24043	.;LAMA2_HUMAN	H	2295;2294;2295;313	ENSP00000400365:R2295H	.	R	+	2	0	LAMA2	129823054	1.000000	0.71417	0.995000	0.50966	0.826000	0.46750	3.873000	0.56093	1.435000	0.47434	0.650000	0.86243	CGT		0.383	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			108	160	0	0	0	1	0	108	160				
AQP7	364	broad.mit.edu	37	9	33387018	33387018	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr9:33387018C>T	ENST00000539936.1	-	4	455	c.217G>A	c.(217-219)Ggt>Agt	p.G73S	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000537089.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.G16S			O14520	AQP7_HUMAN	aquaporin 7	73					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AAGCCAAAACCCAAGTTGACA	0.577																																						ENST00000539936.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(217-219)Ggt>Agt		aquaporin 7							100.0	97.0	98.0					9																	33387018		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33387018C>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000539936.1:c.217G>A	9.37:g.33387018C>T	ENSP00000439534:p.Gly73Ser					AQP7_ENST00000541274.1_Intron|AQP7_ENST00000537089.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.G16S	p.G73S			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	4	455	-			73					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000539936.1	37	c.217G>A		.	.	.	.	.	.	.	.	.	.	c	20.5	3.996722	0.74818	.	.	ENSG00000165269	ENST00000379507;ENST00000297988;ENST00000377425;ENST00000379506;ENST00000539936	D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98	3.41	2.5	0.30297	Aquaporin-like (2);	0.263527	0.37095	N	0.002260	D	0.84897	0.5574	M	0.62266	1.93	0.80722	D	1	P;B;P;P	0.46621	0.806;0.422;0.881;0.806	P;B;P;P	0.52554	0.702;0.394;0.702;0.639	T	0.82261	-0.0545	10	0.56958	D	0.05	-1.9028	4.2407	0.10647	0.226:0.6515:0.0:0.1225	.	72;73;16;73	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	S	72;73;16;72;73	ENSP00000368821:G72S;ENSP00000297988:G73S;ENSP00000396111:G16S;ENSP00000368820:G72S;ENSP00000439534:G73S	ENSP00000297988:G73S	G	-	1	0	AQP7	33377018	0.914000	0.31030	1.000000	0.80357	0.956000	0.61745	3.260000	0.51523	0.789000	0.33779	0.645000	0.84053	GGT		0.577	AQP7-203	KNOWN	basic	protein_coding	protein_coding		NM_001170		26	158	0	0	0	1	0	26	158				
KLF17	128209	broad.mit.edu	37	1	44595585	44595585	+	Silent	SNP	G	G	A	rs201024510		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:44595585G>A	ENST00000372299.3	+	2	700	c.642G>A	c.(640-642)ccG>ccA	p.P214P	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	214					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGTTGCCCCCGCAAGATGCCC	0.572																																						ENST00000372299.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(640-642)ccG>ccA		Kruppel-like factor 17							64.0	60.0	61.0					1																	44595585		2203	4300	6503	SO:0001819	synonymous_variant	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595585G>A	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.642G>A	1.37:g.44595585G>A						KLF17_ENST00000476802.1_Intron	p.P214P	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN			2	700	+	Acute lymphoblastic leukemia(166;0.155)		214					Q86VQ7|Q8N805	Silent	SNP	ENST00000372299.3	37	c.642G>A	CCDS508.1																																																																																				0.572	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		15	110	0	0	0	1	0	15	110				
MND1	84057	broad.mit.edu	37	4	154265890	154265890	+	Start_Codon_SNP	SNP	A	A	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:154265890A>T	ENST00000240488.3	+	1	90	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	MND1_ENST00000503967.1_3'UTR	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1			meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					CGCCCGCGCCATGGTAAGGAC	0.711																																						ENST00000240488.3																			0				large_intestine(2)|lung(1)	3						c.(1-3)Atg>Ttg		meiotic nuclear divisions 1 homolog (S. cerevisiae)							21.0	20.0	20.0					4																	154265890		2189	4299	6488	SO:0001582	initiator_codon_variant	84057				DNA recombination|meiosis	nucleus	DNA binding	g.chr4:154265890A>T	AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000240488.3:c.1A>T	4.37:g.154265890A>T	ENSP00000240488:p.Met1Leu					MND1_ENST00000503967.1_3'UTR	p.M1L	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN			1	90	+	all_hematologic(180;0.093)		1						Translation_Start_Site	SNP	ENST00000240488.3	37	c.1A>T	CCDS3782.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917324	0.73098	.	.	ENSG00000121211	ENST00000240488	.	.	.	2.12	2.12	0.27331	.	0.158118	0.36893	U	0.002355	T	0.70962	0.3284	.	.	.	0.80722	D	1	D	0.64830	0.994	D	0.72625	0.978	T	0.72462	-0.4286	8	0.87932	D	0	-7.2941	7.8031	0.29187	1.0:0.0:0.0:0.0	.	1	Q9BWT6	MND1_HUMAN	L	1	.	ENSP00000240488:M1L	M	+	1	0	MND1	154485340	0.841000	0.29509	0.929000	0.37066	0.023000	0.10783	1.362000	0.34148	1.226000	0.43582	0.260000	0.18958	ATG		0.711	MND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365194.2	NM_032117	Missense_Mutation	9	14	0	0	0	1	0	9	14				
TBC1D3	729873	broad.mit.edu	37	17	36358981	36358981	+	5'Flank	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:36358981C>T	ENST00000537432.1	-	0	0				RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82H|RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.R237H			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AACAGGTGTGCGGGCAAACTT	0.353																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(709-711)cGc>cAc																																						SO:0001631	upstream_gene_variant	0							g.chr17:36358981C>T		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487		17.37:g.36358981C>T	Exception_encountered					RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82H	p.R237H							6	709	-								A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Missense_Mutation	SNP	ENST00000537432.1	37	c.710G>A	CCDS45658.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973656	0.53720	.	.	ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	2.51	2.51	0.30379	.	.	.	.	.	T	0.07954	0.0199	.	.	.	.	.	.	.	.	.	.	.	.	T	0.17899	-1.0354	5	0.56958	D	0.05	.	13.0172	0.58764	0.0:1.0:0.0:0.0	.	.	.	.	H	82;237;237;233	ENSP00000444117:R82H;ENSP00000428261:R237H;ENSP00000308540:R237H;ENSP00000428330:R233H	ENSP00000308540:R237H	R	-	2	0	RP11-1407O15.2	33612772	1.000000	0.71417	0.997000	0.53966	0.709000	0.40893	5.030000	0.64128	1.394000	0.46624	0.194000	0.17425	CGC		0.353	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		6	682	0	0	0	1	0	6	682				
USP4	7375	broad.mit.edu	37	3	49362451	49362451	+	Missense_Mutation	SNP	C	C	T	rs117411669	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:49362451C>T	ENST00000265560.4	-	5	555	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	USP4_ENST00000351842.4_Missense_Mutation_p.R170Q|USP4_ENST00000416417.1_Missense_Mutation_p.R170Q|USP4_ENST00000415188.1_Missense_Mutation_p.R170Q	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	170	Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.|Ubiquitin-like 1.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GAATAGCTTCCGCATCTCTTT	0.488													C|||	2	0.000399361	0.0	0.0	5008	,	,		22939	0.002		0.0	False		,,,				2504	0.0					ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(508-510)cGg>cAg		ubiquitin specific peptidase 4 (proto-oncogene)							162.0	162.0	162.0					3																	49362451		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49362451C>T	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.509G>A	3.37:g.49362451C>T	ENSP00000265560:p.Arg170Gln					USP4_ENST00000416417.1_Missense_Mutation_p.R170Q|USP4_ENST00000265560.4_Missense_Mutation_p.R170Q|USP4_ENST00000415188.1_Missense_Mutation_p.R170Q	p.R170Q	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	5	517	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	170					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.509G>A	CCDS2793.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	33	5.241851	0.95272	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.30981	2.0;2.14;1.51	5.51	5.51	0.81932	.	0.061185	0.64402	D	0.000002	T	0.56366	0.1980	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.75484	0.986;0.584	T	0.51466	-0.8702	10	0.32370	T	0.25	-17.6222	17.9838	0.89150	0.0:1.0:0.0:0.0	.	170;170	Q13107-2;Q13107	.;UBP4_HUMAN	Q	170	ENSP00000341028:R170Q;ENSP00000265560:R170Q;ENSP00000400623:R170Q	ENSP00000265560:R170Q	R	-	2	0	USP4	49337455	1.000000	0.71417	0.951000	0.38953	0.626000	0.37791	5.974000	0.70465	2.604000	0.88044	0.491000	0.48974	CGG		0.488	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		102	150	0	0	0	1	0	102	150				
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						ENST00000420699.2																			13	Substitution - Missense(13)	p.T998S(13)	kidney(6)|endometrium(4)|prostate(3)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2992-2994)Aca>Tca		ankyrin repeat domain 36							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			6	41	0	0	0	1	0	6	41				
AAAS	8086	broad.mit.edu	37	12	53703027	53703027	+	Silent	SNP	G	G	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:53703027G>C	ENST00000209873.4	-	9	1014	c.849C>G	c.(847-849)ccC>ccG	p.P283P	AAAS_ENST00000394384.3_Silent_p.P250P|AAAS_ENST00000550286.1_Silent_p.P159P|AAAS_ENST00000549983.1_5'Flank	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	283					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CTCGGAACCAGGGAAGGGGGA	0.572																																						ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(847-849)ccC>ccG		achalasia, adrenocortical insufficiency, alacrimia							84.0	81.0	82.0					12																	53703027		2203	4300	6503	SO:0001819	synonymous_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53703027G>C	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.849C>G	12.37:g.53703027G>C						AAAS_ENST00000394384.3_Silent_p.P250P|AAAS_ENST00000550286.1_Silent_p.P159P	p.P283P	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN			9	1014	-			283					Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	ENST00000209873.4	37	c.849C>G	CCDS8856.1																																																																																				0.572	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			13	170	0	0	0	1	0	13	170				
ERAL1	26284	broad.mit.edu	37	17	27186225	27186225	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:27186225C>T	ENST00000254928.5	+	9	1212	c.1115C>T	c.(1114-1116)aCa>aTa	p.T372I	MIR144_ENST00000581873.1_lincRNA|MIR144_ENST00000385059.1_lincRNA|MIR144_ENST00000384886.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	372	KH type-2.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GTACAGAAGACAGCAGTGTGG	0.507																																						ENST00000254928.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11						c.(1114-1116)aCa>aTa		Era-like 12S mitochondrial rRNA chaperone 1							126.0	125.0	125.0					17																	27186225		2203	4300	6503	SO:0001583	missense	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27186225C>T	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.1115C>T	17.37:g.27186225C>T	ENSP00000254928:p.Thr372Ile						p.T372I	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		9	1212	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		372			KH type-2.		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	ENST00000254928.5	37	c.1115C>T	CCDS11244.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.646489	0.00792	.	.	ENSG00000132591	ENST00000254928	.	.	.	5.86	3.86	0.44501	K homology domain-like, alpha/beta (1);K Homology, prokaryotic type (1);	0.091395	0.85682	D	0.000000	T	0.31327	0.0793	L	0.31752	0.955	0.38923	D	0.957777	P	0.36412	0.552	B	0.25884	0.064	T	0.20240	-1.0281	9	0.07990	T	0.79	-4.3753	11.9653	0.53031	0.0:0.8562:0.0:0.1438	.	372	O75616	ERAL1_HUMAN	I	372	.	ENSP00000254928:T372I	T	+	2	0	ERAL1	24210351	0.985000	0.35326	0.246000	0.24233	0.029000	0.11900	2.615000	0.46368	1.484000	0.48361	0.655000	0.94253	ACA		0.507	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			59	86	0	0	0	1	0	59	86				
CAMSAP2	23271	broad.mit.edu	37	1	200801875	200801875	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:200801875T>C	ENST00000236925.4	+	7	911	c.862T>C	c.(862-864)Tat>Cat	p.Y288H	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.Y277H|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.Y277H			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	288	CH.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TGATAGCCTGTATAATCTGCA	0.343																																						ENST00000358823.2																			0											c.(829-831)Tat>Cat		calmodulin regulated spectrin-associated protein family, member 2							88.0	91.0	90.0					1																	200801875		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200801875T>C	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.862T>C	1.37:g.200801875T>C	ENSP00000236925:p.Tyr288His					CAMSAP2_ENST00000413307.2_Missense_Mutation_p.Y277H|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.Y288H	p.Y277H	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			6	1099	+			288			CH.		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.829T>C		.	.	.	.	.	.	.	.	.	.	T	23.9	4.466560	0.84425	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	D;D;D	0.95342	-3.68;-3.68;-3.68	4.83	4.83	0.62350	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.95459	0.8525	L	0.46670	1.46	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.999;0.987;0.999	D	0.93852	0.7146	10	0.22109	T	0.4	-19.3355	14.5603	0.68130	0.0:0.0:0.0:1.0	.	277;288;277	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	H	277;277;288	ENSP00000351684:Y277H;ENSP00000416800:Y277H;ENSP00000236925:Y288H	ENSP00000236925:Y288H	Y	+	1	0	CAMSAP1L1	199068498	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.525000	0.81892	2.025000	0.59659	0.477000	0.44152	TAT		0.343	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		15	133	0	0	0	1	0	15	133				
SRGAP2	23380	broad.mit.edu	37	1	206634405	206634405	+	Silent	SNP	G	G	A	rs200791583		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:206634405G>A	ENST00000414007.1	+	19	2436	c.2436G>A	c.(2434-2436)tcG>tcA	p.S812S				O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	952					actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CAATGAACTCGGCCCTGAATG	0.537																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(2434-2436)tcG>tcA		SLIT-ROBO Rho GTPase activating protein 2		G	,	0,3868		0,0,1934	54.0	57.0	56.0		2596,2599	-2.7	1.0	1		56	4,8274		0,4,4135	yes	coding-synonymous,coding-synonymous	SRGAP2	NM_001170637.1,NM_015326.2	,	0,4,6069	AA,AG,GG		0.0483,0.0,0.0329	,	951/1071,952/1072	206634405	4,12142	1934	4139	6073	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206634405G>A	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2436G>A	1.37:g.206634405G>A							p.S812S			O75044	FNBP2_HUMAN			19	2436	+	Breast(84;0.137)		952						Silent	SNP	ENST00000414007.1	37	c.2436G>A		.	.	.	.	.	.	.	.	.	.	G	6.494	0.459272	0.12342	0.0	4.83E-4	ENSG00000163486	ENST00000295713	.	.	.	6.04	-2.68	0.06041	.	.	.	.	.	T	0.24624	0.0597	.	.	.	0.30907	N	0.729093	.	.	.	.	.	.	T	0.31916	-0.9926	3	.	.	.	.	3.2215	0.06717	0.2234:0.0617:0.338:0.3769	.	.	.	.	S	866	.	.	G	+	1	0	SRGAP2	204701028	0.789000	0.28775	0.993000	0.49108	0.974000	0.67602	-0.215000	0.09279	-0.327000	0.08551	-1.166000	0.01754	GGC		0.537	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		15	55	0	0	0	1	0	15	55				
USH2A	7399	broad.mit.edu	37	1	216262396	216262396	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:216262396T>A	ENST00000307340.3	-	23	5230	c.4844A>T	c.(4843-4845)cAt>cTt	p.H1615L	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.H1615L|RP11-22M7.2_ENST00000442606.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1615	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAAAGCCTGATGCCTAATAGC	0.368										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(4843-4845)cAt>cTt		Usher syndrome 2A (autosomal recessive, mild)							213.0	194.0	200.0					1																	216262396		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216262396T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4844A>T	1.37:g.216262396T>A	ENSP00000305941:p.His1615Leu	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.H1615L	p.H1615L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	23	5230	-			1615			Laminin G-like 1.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4844A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268980	0.23221	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77358	-1.09;-1.09	5.8	4.67	0.58626	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.341799	0.21068	N	0.080702	T	0.62756	0.2454	L	0.27053	0.805	0.24864	N	0.992322	B	0.12630	0.006	B	0.12156	0.007	T	0.48875	-0.8996	10	0.23891	T	0.37	.	7.925	0.29870	0.2346:0.0:0.1224:0.643	.	1615	O75445	USH2A_HUMAN	L	1615	ENSP00000305941:H1615L;ENSP00000355910:H1615L	ENSP00000305941:H1615L	H	-	2	0	USH2A	214329019	1.000000	0.71417	0.652000	0.29579	0.717000	0.41224	2.434000	0.44802	1.005000	0.39183	0.533000	0.62120	CAT		0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		6	219	0	0	0	1	0	6	219				
ZNF99	7652	broad.mit.edu	37	19	22940373	22940373	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:22940373T>C	ENST00000596209.1	-	4	2428	c.2338A>G	c.(2338-2340)Aag>Gag	p.K780E	ZNF99_ENST00000397104.3_Missense_Mutation_p.K689E|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	780					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.343																																						ENST00000397104.3																			3	Substitution - Missense(3)	p.K689E(3)	prostate(1)|lung(1)|kidney(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2065-2067)Aag>Gag		zinc finger protein 99							32.0	34.0	34.0					19																	22940373		1947	4138	6085	SO:0001583	missense	7652							g.chr19:22940373T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2338A>G	19.37:g.22940373T>C	ENSP00000472969:p.Lys780Glu					ZNF99_ENST00000596209.1_Missense_Mutation_p.K780E	p.K689E							5	2064	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2065A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	9.727	1.161345	0.21538	.	.	ENSG00000213973	ENST00000397104	T	0.18016	2.24	1.26	-2.52	0.06346	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20495	0.0493	L	0.28400	0.85	0.09310	N	1	D	0.65815	0.995	D	0.65233	0.933	T	0.12837	-1.0532	9	0.54805	T	0.06	.	4.187	0.10402	0.1821:0.0:0.5141:0.3038	.	689	A8MXY4	ZNF99_HUMAN	E	689	ENSP00000380293:K689E	ENSP00000380293:K689E	K	-	1	0	ZNF99	22732213	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.737000	0.04877	-0.939000	0.03709	0.313000	0.20887	AAG		0.343	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	107	0	0	0	1	0	4	107				
THRSP	7069	broad.mit.edu	37	11	77775098	77775098	+	Silent	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:77775098C>T	ENST00000281030.2	+	1	192	c.171C>T	c.(169-171)taC>taT	p.Y57Y	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	57					lipid metabolic process (GO:0006629)|regulation of lipid biosynthetic process (GO:0046890)|regulation of transcription, DNA-templated (GO:0006355)|regulation of triglyceride biosynthetic process (GO:0010866)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			CTGATCTCTACACCTACTTCA	0.632																																						ENST00000281030.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(169-171)taC>taT		thyroid hormone responsive							92.0	92.0	92.0					11																	77775098		2200	4292	6492	SO:0001819	synonymous_variant	7069				lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus		g.chr11:77775098C>T	Y08409	CCDS8256.1	11q14.1	2012-06-19	2010-06-25		ENSG00000151365	ENSG00000151365			11800	protein-coding gene	gene with protein product	"""SPOT14 homolog (rat)"""	601926	"""thyroid hormone responsive SPOT14 (rat) homolog"", ""lipogenic protein 1"""	LPGP1		9003802	Standard	NM_003251		Approved	SPOT14, Lpgp, S14, THRP	uc001oyx.3	Q92748	OTTHUMG00000166632	ENST00000281030.2:c.171C>T	11.37:g.77775098C>T						NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	p.Y57Y	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		1	192	+	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		57					B2R4W7	Silent	SNP	ENST00000281030.2	37	c.171C>T	CCDS8256.1																																																																																				0.632	THRSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390939.1	NM_003251		6	196	0	0	0	1	0	6	196				
IL21R	50615	broad.mit.edu	37	16	27459933	27459933	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr16:27459933G>T	ENST00000337929.3	+	9	1419	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.V316L|IL21R_ENST00000395755.1_Missense_Mutation_p.V316L|IL21R_ENST00000395754.4_Missense_Mutation_p.V316L|IL21R_ENST00000564583.1_3'UTR	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	316					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CACCCTGGAGGTGTACAGCTG	0.627			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(946-948)Gtg>Ttg		interleukin 21 receptor							21.0	24.0	23.0					16																	27459933		2195	4291	6486	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27459933G>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.946G>T	16.37:g.27459933G>T	ENSP00000338010:p.Val316Leu					IL21R_ENST00000564089.1_Missense_Mutation_p.V316L|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.V316L|IL21R_ENST00000395755.1_Missense_Mutation_p.V316L|IL21R_ENST00000564583.1_3'UTR	p.V316L	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			9	1419	+			316					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.946G>T	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705097	0.30232	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.42131	0.98;0.98;0.98	4.87	0.402	0.16344	.	5.220210	0.01153	N	0.006477	T	0.25568	0.0622	N	0.12471	0.22	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.10894	-1.0610	10	0.25106	T	0.35	-2.2005	5.5068	0.16858	0.2285:0.166:0.6055:0.0	.	316	Q9HBE5	IL21R_HUMAN	L	316	ENSP00000338010:V316L;ENSP00000379104:V316L;ENSP00000379103:V316L	ENSP00000338010:V316L	V	+	1	0	IL21R	27367434	0.097000	0.21791	0.352000	0.25734	0.182000	0.23217	0.134000	0.15932	-0.211000	0.10124	0.561000	0.74099	GTG		0.627	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		13	89	1	0	9.31168e-06	1	9.67542e-06	13	89				
CNGA3	1261	broad.mit.edu	37	2	99013230	99013230	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:99013230G>T	ENST00000272602.2	+	7	1636	c.1597G>T	c.(1597-1599)Gat>Tat	p.D533Y	CNGA3_ENST00000393504.1_Missense_Mutation_p.D533Y|CNGA3_ENST00000436404.2_Missense_Mutation_p.D515Y|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537Y			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	533			D -> H (probable disease-associated mutation found in patients with cone-rod dystrophy). {ECO:0000269|PubMed:24903488}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGTGGCTGATGATGGGGTCAC	0.562																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(1597-1599)Gat>Tat		cyclic nucleotide gated channel alpha 3							120.0	113.0	115.0					2																	99013230		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013230G>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1597G>T	2.37:g.99013230G>T	ENSP00000272602:p.Asp533Tyr					CNGA3_ENST00000436404.2_Missense_Mutation_p.D515Y|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537Y|CNGA3_ENST00000272602.2_Missense_Mutation_p.D533Y	p.D533Y	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	2014	+			533					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1597G>T	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064791	0.55432	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	5.42	5.42	0.78866	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99143	0.9704	H	0.98238	4.18	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.994	D	0.98985	1.0806	10	0.87932	D	0	.	18.154	0.89686	0.0:0.0:1.0:0.0	.	537;515;533	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	Y	533;515;533;537	ENSP00000377140:D533Y;ENSP00000410070:D515Y;ENSP00000272602:D533Y;ENSP00000386761:D537Y	ENSP00000272602:D533Y	D	+	1	0	CNGA3	98379662	1.000000	0.71417	0.111000	0.21465	0.427000	0.31564	9.263000	0.95617	2.826000	0.97356	0.563000	0.77884	GAT		0.562	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		18	235	1	0	6.94344e-10	1	7.69565e-10	18	235				
ATP7A	538	broad.mit.edu	37	X	77254082	77254082	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:77254082G>A	ENST00000341514.6	+	5	1599	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	ATP7A_ENST00000343533.5_Missense_Mutation_p.E482K|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	482					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCAAGACAAGGAGGAAGGAAA	0.428																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(1444-1446)Gag>Aag		ATPase, Cu++ transporting, alpha polypeptide							185.0	166.0	172.0					X																	77254082		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77254082G>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1444G>A	X.37:g.77254082G>A	ENSP00000345728:p.Glu482Lys					ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E482K	p.E482K	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			5	1599	+			482					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1444G>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	0.092	-1.165199	0.01673	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.96104	-3.9;-3.91	4.83	3.96	0.45880	.	1.009550	0.07932	N	0.977746	D	0.90253	0.6952	N	0.19112	0.55	0.58432	D	0.999992	B;B	0.15141	0.001;0.012	B;B	0.12156	0.007;0.006	T	0.75519	-0.3289	10	0.06236	T	0.91	2.0838	13.7107	0.62667	0.0:0.4978:0.5022:0.0	.	482;492	Q04656;Q59HD1	ATP7A_HUMAN;.	K	482;482;492	ENSP00000343026:E482K;ENSP00000345728:E482K	ENSP00000345728:E482K	E	+	1	0	ATP7A	77140738	0.989000	0.36119	0.032000	0.17829	0.009000	0.06853	3.222000	0.51223	0.950000	0.37743	-0.217000	0.12591	GAG		0.428	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		14	370	0	0	0	1	0	14	370				
HNF1B	6928	broad.mit.edu	37	17	36070536	36070536	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:36070536T>C	ENST00000225893.4	-	5	1542	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	HNF1B_ENST00000561193.1_Missense_Mutation_p.N368S|HNF1B_ENST00000427275.2_Missense_Mutation_p.N368S|HNF1B_ENST00000560016.1_Missense_Mutation_p.N394S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	394					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S388fs*4(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGAGAGGAGATTGTGGCCTGG	0.522																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			1	Deletion - Frameshift(1)	p.S388fs*4(1)	liver(1)	breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1180-1182)aAt>aGt		HNF1 homeobox B							129.0	118.0	122.0					17																	36070536		2203	4300	6503	SO:0001583	missense	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36070536T>C	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1181A>G	17.37:g.36070536T>C	ENSP00000225893:p.Asn394Ser					HNF1B_ENST00000561193.1_Missense_Mutation_p.N368S|HNF1B_ENST00000560016.1_Missense_Mutation_p.N394S|HNF1B_ENST00000427275.2_Missense_Mutation_p.N368S	p.N394S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		5	1542	-		Breast(25;0.00765)|Ovarian(249;0.15)	394					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.1181A>G	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	T	3.252	-0.152967	0.06585	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.96802	-4.13;-4.13	5.7	3.42	0.39159	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.196572	0.64402	N	0.000006	T	0.81828	0.4905	N	0.01109	-1.01	0.22521	N	0.999026	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.73839	-0.3856	10	0.02654	T	1	-10.3958	4.5347	0.12022	0.0:0.4522:0.0:0.5478	.	368;394	E0YMJ6;P35680	.;HNF1B_HUMAN	S	394;368;394;282	ENSP00000225893:N394S;ENSP00000412212:N368S	ENSP00000225893:N394S	N	-	2	0	HNF1B	33144649	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.126000	0.31344	1.016000	0.39470	0.533000	0.62120	AAT		0.522	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		14	202	0	0	0	1	0	14	202				
TACR3	6870	broad.mit.edu	37	4	104512798	104512798	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:104512798A>G	ENST00000304883.2	-	4	1071	c.931T>C	c.(931-933)Tgc>Cgc	p.C311R	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	311					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCAGCCAGCAGATAGCAAAT	0.338																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(931-933)Tgc>Cgc		tachykinin receptor 3							78.0	75.0	76.0					4																	104512798		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104512798A>G	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.931T>C	4.37:g.104512798A>G	ENSP00000303325:p.Cys311Arg					RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	p.C311R	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	4	1071	-		Hepatocellular(203;0.217)	311					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.931T>C	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.162145	0.78226	.	.	ENSG00000169836	ENST00000304883	T	0.54279	0.58	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.088274	0.85682	D	0.000000	D	0.82917	0.5141	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89568	0.3811	10	0.87932	D	0	.	14.5917	0.68371	1.0:0.0:0.0:0.0	.	311	P29371	NK3R_HUMAN	R	311	ENSP00000303325:C311R	ENSP00000303325:C311R	C	-	1	0	TACR3	104732247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.789000	0.91839	2.097000	0.63578	0.533000	0.62120	TGC		0.338	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		5	88	0	0	0	1	0	5	88				
ZFAT	57623	broad.mit.edu	37	8	135596191	135596191	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:135596191A>C	ENST00000377838.3	-	10	2945	c.2771T>G	c.(2770-2772)cTc>cGc	p.L924R	ZFAT_ENST00000520356.1_Missense_Mutation_p.L912R|ZFAT_ENST00000523399.1_Missense_Mutation_p.L862R|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520727.1_Missense_Mutation_p.L912R|ZFAT_ENST00000429442.2_Missense_Mutation_p.L912R|ZFAT_ENST00000520214.1_Missense_Mutation_p.L912R	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	924					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATGAGCCTTGAGGTTACTCTT	0.403																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2734-2736)cTc>cGc		zinc finger and AT hook domain containing							111.0	97.0	101.0					8																	135596191		1924	4141	6065	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135596191A>C	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2771T>G	8.37:g.135596191A>C	ENSP00000367069:p.Leu924Arg					ZFAT_ENST00000523399.1_Missense_Mutation_p.L862R|ZFAT_ENST00000520356.1_Missense_Mutation_p.L912R|ZFAT_ENST00000520214.1_Missense_Mutation_p.L912R|ZFAT_ENST00000377838.3_Missense_Mutation_p.L924R|ZFAT_ENST00000429442.2_Missense_Mutation_p.L912R|ZFAT_ENST00000517307.1_5'UTR	p.L912R	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		11	3034	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		924					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.2735T>G	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838741	0.91117	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.46386	0.1390	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.51639	-0.8680	10	0.87932	D	0	-28.9335	15.1066	0.72326	1.0:0.0:0.0:0.0	.	862;912;924	E9PER3;E9PBN4;Q9P243	.;.;ZFAT_HUMAN	R	912;912;912;924;912;811;862	ENSP00000427879:L912R;ENSP00000427831:L912R;ENSP00000394501:L912R;ENSP00000367069:L924R;ENSP00000428483:L912R;ENSP00000429091:L862R	ENSP00000326997:L811R	L	-	2	0	ZFAT	135665373	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.207000	0.95064	2.156000	0.67533	0.460000	0.39030	CTC		0.403	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		5	15	0	0	0	1	0	5	15				
GAB3	139716	broad.mit.edu	37	X	153940503	153940503	+	Splice_Site	SNP	C	C	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:153940503C>A	ENST00000369575.3	-	4	1098		c.e4+1		GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Splice_Site	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3						macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAACACTTACCTTTCCAGGT	0.507																																						ENST00000369575.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.e4+1		GRB2-associated binding protein 3							87.0	70.0	75.0					X																	153940503		2203	4300	6503	SO:0001630	splice_region_variant	139716							g.chrX:153940503C>A	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1066+1G>T	X.37:g.153940503C>A						GAB3_ENST00000424127.2_Splice_Site|GAB3_ENST00000496390.1_Intron		NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN			4	1098	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)							A6NHF8|E9PB44	Splice_Site	SNP	ENST00000369575.3	37		CCDS14760.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085597	0.36758	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1053	0.81216	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GAB3	153593697	1.000000	0.71417	0.997000	0.53966	0.210000	0.24377	4.294000	0.59043	2.404000	0.81709	0.594000	0.82650	.		0.507	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573	Intron	6	202	1	0	2.7689e-08	1	2.99401e-08	6	202				
COMMD4	54939	broad.mit.edu	37	15	75630990	75630990	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:75630990G>A	ENST00000267935.8	+	4	344	c.145G>A	c.(145-147)Gag>Aag	p.E49K	COMMD4_ENST00000567195.1_Missense_Mutation_p.E49K|COMMD4_ENST00000562789.1_Missense_Mutation_p.E55K|COMMD4_ENST00000564815.1_Missense_Mutation_p.E27K|COMMD4_ENST00000338995.6_Missense_Mutation_p.E49K	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	49						cytoplasm (GO:0005737)				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CCCATAGTATGAGAAGATCCT	0.597																																						ENST00000267935.8																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						c.(145-147)Gag>Aag		COMM domain containing 4							41.0	38.0	39.0					15																	75630990		2197	4293	6490	SO:0001583	missense	54939					cytoplasm	protein binding	g.chr15:75630990G>A	AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.145G>A	15.37:g.75630990G>A	ENSP00000267935:p.Glu49Lys					COMMD4_ENST00000564815.1_Missense_Mutation_p.E27K|COMMD4_ENST00000567195.1_Missense_Mutation_p.E49K|COMMD4_ENST00000562789.1_Missense_Mutation_p.E55K|COMMD4_ENST00000338995.6_Missense_Mutation_p.E49K	p.E49K	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN			4	344	+			49					B2RBN4|H3BUL2|Q7L637|Q9NX43	Missense_Mutation	SNP	ENST00000267935.8	37	c.145G>A	CCDS10277.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681132	0.47886	.	.	ENSG00000140365	ENST00000267935;ENST00000338995	.	.	.	4.68	4.68	0.58851	.	0.107104	0.64402	D	0.000007	T	0.77994	0.4214	M	0.80746	2.51	0.58432	D	0.999992	D;B;P	0.67145	0.996;0.011;0.489	D;B;B	0.65443	0.935;0.023;0.302	T	0.76903	-0.2787	9	0.27082	T	0.32	.	16.9149	0.86149	0.0:0.0:1.0:0.0	.	49;49;49	B4DEN0;Q9H0A8-2;Q9H0A8	.;.;COMD4_HUMAN	K	49	.	ENSP00000267935:E49K	E	+	1	0	COMMD4	73418043	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	6.339000	0.72969	2.313000	0.78055	0.536000	0.68110	GAG		0.597	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286414.1	NM_017828		3	31	0	0	0	1	0	3	31				
MUC4	4585	broad.mit.edu	37	3	195513169	195513169	+	Missense_Mutation	SNP	A	A	G	rs200764851	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:195513169A>G	ENST00000463781.3	-	2	5741	c.5282T>C	c.(5281-5283)cTt>cCt	p.L1761P	MUC4_ENST00000475231.1_Missense_Mutation_p.L1761P|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTGACAGGAAGAGGGGTGGC	0.582													.|||	4	0.000798722	0.0	0.0014	5008	,	,		30541	0.0		0.002	False		,,,				2504	0.001					ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(5281-5283)cTt>cCt		mucin 4, cell surface associated							54.0	50.0	51.0					3																	195513169		692	1591	2283	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195513169A>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5282T>C	3.37:g.195513169A>G	ENSP00000417498:p.Leu1761Pro					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L1761P|MUC4_ENST00000346145.4_Intron	p.L1761P	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	5741	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	553					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.5282T>C	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	2.213	-0.380124	0.05000	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.50548	0.95;0.74	.	.	.	.	.	.	.	.	T	0.21962	0.0529	N	0.19112	0.55	0.09310	N	1	P	0.47604	0.898	B	0.34180	0.177	T	0.11397	-1.0589	7	.	.	.	.	2.8413	0.05530	0.5024:0.497:2.0E-4:3.0E-4	.	1761	E7ESK3	.	P	1761	ENSP00000417498:L1761P;ENSP00000420243:L1761P	.	L	-	2	0	MUC4	196997564	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-1.294000	0.02767	0.077000	0.16863	0.076000	0.15429	CTT		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	4	0	0	0	1	0	3	4				
LMO7	4008	broad.mit.edu	37	13	76379755	76379755	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr13:76379755G>A	ENST00000321797.8	+	7	1077	c.356G>A	c.(355-357)cGc>cAc	p.R119H	LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.R119H|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.R404H|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.R404H			Q8WWI1	LMO7_HUMAN	LIM domain 7	404	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTTATGTGCGCAAGCTCAGT	0.413																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1210-1212)cGc>cAc		LIM domain 7							322.0	289.0	299.0					13																	76379755		1568	3582	5150	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76379755G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.356G>A	13.37:g.76379755G>A	ENSP00000317802:p.Arg119His					LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.R119H|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.R404H|LMO7_ENST00000321797.8_Missense_Mutation_p.R119H	p.R404H			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	10	2471	+		Breast(118;0.0992)	404					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.1211G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.668026	0.88348	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526371	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	M	0.73962	2.25	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.78763	-0.2077	10	0.87932	D	0	-11.2894	20.3363	0.98740	0.0:0.0:1.0:0.0	.	119	E9PLH4	.	H	404;404;119;119;119	ENSP00000349571:R404H;ENSP00000366757:R404H;ENSP00000317802:R119H;ENSP00000433352:R119H;ENSP00000432269:R119H	ENSP00000317802:R119H	R	+	2	0	LMO7	75277756	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	8.765000	0.91724	2.814000	0.96858	0.563000	0.77884	CGC		0.413	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		5	406	0	0	0	1	0	5	406				
AFF2	2334	broad.mit.edu	37	X	148048608	148048608	+	Splice_Site	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:148048608T>C	ENST00000370460.2	+	14	3681	c.3202T>C	c.(3202-3204)Tcg>Ccg	p.S1068P	AFF2_ENST00000286437.5_Splice_Site_p.S709P|AFF2_ENST00000370457.5_Splice_Site_p.S1033P|AFF2_ENST00000342251.3_Splice_Site_p.S1035P	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1068					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGATGACTCGTATGTTGT	0.517																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.e14+1		AF4/FMR2 family, member 2							154.0	129.0	138.0					X																	148048608		2203	4300	6503	SO:0001630	splice_region_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148048608T>C	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3203+1T>C	X.37:g.148048608T>C						AFF2_ENST00000370457.5_Splice_Site_p.S1033_splice|AFF2_ENST00000342251.3_Splice_Site_p.S1035_splice|AFF2_ENST00000286437.5_Splice_Site_p.S709_splice	p.S1068_splice	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			14	3681	+	Acute lymphoblastic leukemia(192;6.56e-05)		1068					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Splice_Site	SNP	ENST00000370460.2	37	c.3203_splice	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665805	0.67700	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.57	2.78	0.32641	.	0.473695	0.18848	N	0.129495	T	0.65626	0.2709	L	0.53249	1.67	0.28797	N	0.898986	B;D;B;D;D;D	0.56968	0.078;0.978;0.064;0.962;0.962;0.969	B;D;B;P;P;P	0.63113	0.246;0.911;0.159;0.573;0.573;0.699	T	0.56475	-0.7973	10	0.30854	T	0.27	.	4.5918	0.12310	0.4226:0.0:0.2388:0.3385	.	709;1033;1033;1029;1058;1068	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	P	1068;1033;1035;709	ENSP00000359489:S1068P;ENSP00000359486:S1033P;ENSP00000345459:S1035P;ENSP00000286437:S709P	ENSP00000286437:S709P	S	+	1	0	AFF2	147856302	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.884000	0.48562	1.860000	0.53959	0.417000	0.27973	TCG		0.517	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	Missense_Mutation	7	230	0	0	0	1	0	7	230				
TTN	7273	broad.mit.edu	37	2	179472196	179472196	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:179472196C>T	ENST00000591111.1	-	227	48520	c.48296G>A	c.(48295-48297)gGc>gAc	p.G16099D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G17740D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G8867D|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15172D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8800D|TTN_ENST00000460472.2_Missense_Mutation_p.G8675D			Q8WZ42	TITIN_HUMAN	titin	16099	Ig-like 99.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACATATCTGCCATGGTCTTT	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(53218-53220)gGc>gAc		titin							304.0	285.0	291.0					2																	179472196		1905	4118	6023	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179472196C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48296G>A	2.37:g.179472196C>T	ENSP00000465570:p.Gly16099Asp					TTN_ENST00000591111.1_Missense_Mutation_p.G16099D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8675D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8800D|TTN_ENST00000342175.6_Missense_Mutation_p.G8867D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15172D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.G17740D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		277	53443	-			16099					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.53219G>A		.	.	.	.	.	.	.	.	.	.	C	13.10	2.136464	0.37728	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92632	0.7659	H	0.96518	3.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93962	0.7241	9	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	8675;8800;8867;16099	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	15172;8675;8867;8800;8675	ENSP00000343764:G15172D;ENSP00000434586:G8675D;ENSP00000340554:G8867D;ENSP00000352154:G8800D	ENSP00000340554:G8867D	G	-	2	0	TTN	179180441	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	7.440000	0.80464	2.840000	0.97914	0.655000	0.94253	GGC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		52	412	0	0	0	1	0	52	412				
IL12RB2	3595	broad.mit.edu	37	1	67793919	67793919	+	Silent	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:67793919A>G	ENST00000262345.1	+	5	1156	c.516A>G	c.(514-516)caA>caG	p.Q172Q	IL12RB2_ENST00000541374.1_Silent_p.Q172Q|IL12RB2_ENST00000544434.1_Silent_p.Q172Q|IL12RB2_ENST00000371000.1_Silent_p.Q172Q	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	172	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GGCAGAAGCAATGTAAAGACA	0.388																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(514-516)caA>caG		interleukin 12 receptor, beta 2							169.0	164.0	166.0					1																	67793919		2203	4300	6503	SO:0001819	synonymous_variant	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67793919A>G	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.516A>G	1.37:g.67793919A>G						IL12RB2_ENST00000371000.1_Silent_p.Q172Q|IL12RB2_ENST00000544434.1_Silent_p.Q172Q|IL12RB2_ENST00000541374.1_Silent_p.Q172Q	p.Q172Q	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			5	1156	+			172			Fibronectin type-III 1.		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Silent	SNP	ENST00000262345.1	37	c.516A>G	CCDS638.1	.	.	.	.	.	.	.	.	.	.	A	4.851	0.158193	0.09236	.	.	ENSG00000081985	ENST00000441640	.	.	.	5.35	-6.43	0.01926	.	.	.	.	.	T	0.12092	0.0294	.	.	.	0.21290	N	0.999733	.	.	.	.	.	.	T	0.28332	-1.0047	4	.	.	.	-2.43	9.6846	0.40091	0.3285:0.1273:0.5442:0.0	.	.	.	.	V	40	.	.	M	+	1	0	IL12RB2	67566507	0.003000	0.15002	0.020000	0.16555	0.672000	0.39443	-1.130000	0.03241	-1.405000	0.02048	0.459000	0.35465	ATG		0.388	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		107	180	0	0	0	1	0	107	180				
LMOD3	56203	broad.mit.edu	37	3	69168928	69168928	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:69168928T>C	ENST00000420581.2	-	2	757	c.578A>G	c.(577-579)gAc>gGc	p.D193G	LMOD3_ENST00000489031.1_Missense_Mutation_p.D193G|LMOD3_ENST00000475434.1_Missense_Mutation_p.D193G	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	193						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GAATGCTTTGTCAGTTACCTG	0.408																																						ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(577-579)gAc>gGc		leiomodin 3 (fetal)							113.0	101.0	105.0					3																	69168928		1947	4141	6088	SO:0001583	missense	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69168928T>C	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.578A>G	3.37:g.69168928T>C	ENSP00000414670:p.Asp193Gly					LMOD3_ENST00000489031.1_Missense_Mutation_p.D193G|LMOD3_ENST00000475434.1_Missense_Mutation_p.D193G	p.D193G	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	757	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	193					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.578A>G	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	T	0.226	-1.024639	0.02061	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	D;D;D	0.91407	-2.84;-2.84;-2.84	5.34	0.179	0.15063	.	1.118810	0.06653	N	0.763032	T	0.78723	0.4328	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.63193	-0.6692	10	0.29301	T	0.29	-1.1475	5.9656	0.19322	0.0:0.2229:0.1687:0.6083	.	193	Q0VAK6	LMOD3_HUMAN	G	193	ENSP00000414670:D193G;ENSP00000417210:D193G;ENSP00000418645:D193G	ENSP00000414670:D193G	D	-	2	0	LMOD3	69251618	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.633000	0.24598	-0.222000	0.09958	0.482000	0.46254	GAC		0.408	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		5	38	0	0	0	1	0	5	38				
SULF2	55959	broad.mit.edu	37	20	46291958	46291958	+	Splice_Site	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr20:46291958T>C	ENST00000359930.4	-	17	3079		c.e17-2		SULF2_ENST00000361612.4_Splice_Site|SULF2_ENST00000467815.1_Splice_Site|SULF2_ENST00000484875.1_Splice_Site	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2						bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AAGGCCCCACTGCCAAGGAAG	0.527											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.e17-2		sulfatase 2							114.0	102.0	106.0					20																	46291958		2203	4300	6503	SO:0001630	splice_region_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46291958T>C	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.2228-2A>G	20.37:g.46291958T>C			OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	SULF2_ENST00000467815.1_Splice_Site|SULF2_ENST00000361612.4_Splice_Site|SULF2_ENST00000484875.1_Splice_Site		NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			17	3079	-								E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Splice_Site	SNP	ENST00000359930.4	37		CCDS13408.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759613	0.49468	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000495544;ENST00000467815	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8337	0.78782	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SULF2	45725365	1.000000	0.71417	0.999000	0.59377	0.374000	0.29953	7.930000	0.87610	2.158000	0.67659	0.454000	0.30748	.		0.527	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	Intron	4	68	0	0	0	1	0	4	68				
RXFP2	122042	broad.mit.edu	37	13	32352678	32352678	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr13:32352678T>C	ENST00000298386.2	+	9	814	c.743T>C	c.(742-744)cTt>cCt	p.L248P	RXFP2_ENST00000380314.1_Missense_Mutation_p.L248P	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	248					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTAGAAGCTCTTCCCAAGCAG	0.318																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(742-744)cTt>cCt		relaxin/insulin-like family peptide receptor 2							121.0	128.0	126.0					13																	32352678		2203	4299	6502	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32352678T>C	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.743T>C	13.37:g.32352678T>C	ENSP00000298386:p.Leu248Pro					RXFP2_ENST00000380314.1_Missense_Mutation_p.L248P	p.L248P	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	9	814	+		Lung SC(185;0.0262)	248					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.743T>C	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635389	0.67130	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.04970	4.05;3.52	5.49	5.49	0.81192	.	0.187430	0.47852	D	0.000206	T	0.34308	0.0893	H	0.95745	3.715	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.70935	0.971;0.947	T	0.47032	-0.9148	10	0.87932	D	0	.	11.9885	0.53161	0.0:0.0:0.0:1.0	.	248;248	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	P	248	ENSP00000369670:L248P;ENSP00000298386:L248P	ENSP00000298386:L248P	L	+	2	0	RXFP2	31250678	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	4.035000	0.57297	2.085000	0.62840	0.533000	0.62120	CTT		0.318	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		5	238	0	0	0	1	0	5	238				
AR	367	broad.mit.edu	37	X	66931475	66931475	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:66931475A>G	ENST00000374690.3	+	4	2641	c.2117A>G	c.(2116-2118)aAt>aGt	p.N706S	AR_ENST00000396044.3_Missense_Mutation_p.N706S|AR_ENST00000396043.2_Missense_Mutation_p.N174S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	705	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TCTAGCCTCAATGAACTGGGA	0.522									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM024554|CM920075	AR	M		c.(2116-2118)aAt>aGt		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						88.0	68.0	75.0					X																	66931475		2203	4300	6503	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66931475A>G	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2117A>G	X.37:g.66931475A>G	ENSP00000363822:p.Asn706Ser					AR_ENST00000396043.2_Missense_Mutation_p.N174S|AR_ENST00000396044.3_Missense_Mutation_p.N706S	p.N706S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			4	2641	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	705			Interaction with MYST2.|Ligand-binding.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.2117A>G	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	22.9	4.353794	0.82243	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396044;ENST00000396043	D;D;D	0.99748	-6.62;-2.41;-6.62	5.18	5.18	0.71444	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	D	0.98030	1.0376	10	0.87932	D	0	.	11.7744	0.51977	1.0:0.0:0.0:0.0	.	174;705	F1D8N5;P10275	.;ANDR_HUMAN	S	516;706;706;174	ENSP00000363822:N706S;ENSP00000379359:N706S;ENSP00000379358:N174S	ENSP00000363822:N706S	N	+	2	0	AR	66848200	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.136000	0.94489	1.909000	0.55274	0.478000	0.44815	AAT		0.522	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		8	61	0	0	0	1	0	8	61				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			77	91	0	0	0	1	0	77	91				
MAGOH	4116	broad.mit.edu	37	1	53692748	53692748	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:53692748A>G	ENST00000371470.3	-	5	571	c.410T>C	c.(409-411)aTt>aCt	p.I137T	MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T|RP5-1024G6.7_ENST00000569869.1_RNA	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	137					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I137T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						GTGTAATCCAATAAGACTGAA	0.378																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			1	Substitution - Missense(1)	p.I137T(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(409-411)aTt>aCt		mago-nashi homolog, proliferation-associated (Drosophila)							58.0	56.0	57.0					1																	53692748		2203	4300	6503	SO:0001583	missense	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692748A>G	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.410T>C	1.37:g.53692748A>G	ENSP00000360525:p.Ile137Thr					MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T	p.I137T	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			5	571	-			137					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Missense_Mutation	SNP	ENST00000371470.3	37	c.410T>C	CCDS577.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.259752	0.59321	.	.	ENSG00000162385	ENST00000371470;ENST00000371466	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86410	0.5926	M	0.80028	2.48	0.80722	D	1	B;B	0.32717	0.051;0.381	B;P	0.61003	0.12;0.882	D	0.84407	0.0563	9	0.42905	T	0.14	-19.5899	16.8222	0.85835	1.0:0.0:0.0:0.0	.	100;137	B1ARP8;P61326	.;MGN_HUMAN	T	137;100	.	ENSP00000360521:I100T	I	-	2	0	MAGOH	53465336	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.802000	0.91910	2.371000	0.80710	0.533000	0.62120	ATT		0.378	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		4	85	0	0	0	1	0	4	85				
JMJD6	23210	broad.mit.edu	37	17	74722545	74722545	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:74722545T>C	ENST00000397625.4	-	1	127	c.13A>G	c.(13-15)Agc>Ggc	p.S5G	METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000588822.1_5'Flank|JMJD6_ENST00000445478.2_Missense_Mutation_p.S5G|METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.S5G|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000591571.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	5					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CGCTTCTTGCTCTTGTGGTTC	0.667																																						ENST00000445478.2																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						c.(13-15)Agc>Ggc		jumonji domain containing 6							34.0	38.0	37.0					17																	74722545		2036	4190	6226	SO:0001583	missense	23210				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding	g.chr17:74722545T>C	AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.13A>G	17.37:g.74722545T>C	ENSP00000380750:p.Ser5Gly					JMJD6_ENST00000585429.1_Missense_Mutation_p.S5G|JMJD6_ENST00000397625.4_Missense_Mutation_p.S5G	p.S5G	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN			1	216	-			5					B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	c.13A>G	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089094	0.55968	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.71581	2.175	0.80722	D	1	P;P;P	0.52692	0.599;0.955;0.88	B;B;P	0.45856	0.196;0.133;0.495	T	0.68387	-0.5422	9	0.59425	D	0.04	0.5748	14.2737	0.66166	0.0:0.0:0.0:1.0	.	5;5;5	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	G	5	.	ENSP00000302916:S5G	S	-	1	0	JMJD6	72234140	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	3.700000	0.54786	1.967000	0.57214	0.402000	0.26972	AGC		0.667	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		36	47	0	0	0	1	0	36	47				
COMMD4	54939	broad.mit.edu	37	15	75631004	75631004	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:75631004G>A	ENST00000267935.8	+	4	358	c.159G>A	c.(157-159)aaG>aaA	p.K53K	COMMD4_ENST00000567195.1_Silent_p.K53K|COMMD4_ENST00000562789.1_Silent_p.K59K|COMMD4_ENST00000564815.1_Silent_p.K31K|COMMD4_ENST00000338995.6_Silent_p.K53K	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	53						cytoplasm (GO:0005737)				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						AGATCCTGAAGCTCACGGCTG	0.612																																						ENST00000267935.8																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						c.(157-159)aaG>aaA		COMM domain containing 4							42.0	37.0	39.0					15																	75631004		2196	4293	6489	SO:0001819	synonymous_variant	54939					cytoplasm	protein binding	g.chr15:75631004G>A	AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.159G>A	15.37:g.75631004G>A						COMMD4_ENST00000564815.1_Silent_p.K31K|COMMD4_ENST00000567195.1_Silent_p.K53K|COMMD4_ENST00000562789.1_Silent_p.K59K|COMMD4_ENST00000338995.6_Silent_p.K53K	p.K53K	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN			4	358	+			53					B2RBN4|H3BUL2|Q7L637|Q9NX43	Silent	SNP	ENST00000267935.8	37	c.159G>A	CCDS10277.1																																																																																				0.612	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286414.1	NM_017828		3	31	0	0	0	1	0	3	31				
CDCP1	64866	broad.mit.edu	37	3	45132791	45132791	+	Missense_Mutation	SNP	C	C	T	rs574793682		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:45132791C>T	ENST00000296129.1	-	7	2001	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	623						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGCACATCCTCGTCCAGGCTG	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19907	0.0		0.0	False		,,,				2504	0.0					ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(1867-1869)Gag>Aag		CUB domain containing protein 1							104.0	97.0	99.0					3																	45132791		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45132791C>T	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1867G>A	3.37:g.45132791C>T	ENSP00000296129:p.Glu623Lys						p.E623K	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	7	2001	-			623					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.1867G>A	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067273	0.55539	.	.	ENSG00000163814	ENST00000296129	T	0.24723	1.84	6.03	6.03	0.97812	.	0.290331	0.42548	D	0.000688	T	0.23532	0.0569	L	0.54323	1.7	0.80722	D	1	P	0.44946	0.846	B	0.34652	0.187	T	0.02307	-1.1179	10	0.31617	T	0.26	.	15.2955	0.73902	0.1399:0.86:0.0:0.0	.	623	Q9H5V8	CDCP1_HUMAN	K	623	ENSP00000296129:E623K	ENSP00000296129:E623K	E	-	1	0	CDCP1	45107795	1.000000	0.71417	0.986000	0.45419	0.793000	0.44817	3.632000	0.54287	2.868000	0.98415	0.555000	0.69702	GAG		0.592	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		18	135	0	0	0	1	0	18	135				
TNFAIP8L3	388121	broad.mit.edu	37	15	51350344	51350344	+	Missense_Mutation	SNP	T	T	C	rs373918716		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:51350344T>C	ENST00000327536.5	-	3	712	c.613A>G	c.(613-615)Atg>Gtg	p.M205V	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	205										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ACAATGGTCATGGCGGTCTGG	0.512																																						ENST00000327536.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11						c.(613-615)Atg>Gtg		tumor necrosis factor, alpha-induced protein 8-like 3							129.0	107.0	115.0					15																	51350344		2196	4293	6489	SO:0001583	missense	388121							g.chr15:51350344T>C	AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.613A>G	15.37:g.51350344T>C	ENSP00000328016:p.Met205Val					RP11-108K3.1_ENST00000559909.1_lincRNA	p.M205V	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN		all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)	3	712	-			205					Q6ZWD1	Missense_Mutation	SNP	ENST00000327536.5	37	c.613A>G	CCDS32241.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.963254	0.74016	.	.	ENSG00000183578	ENST00000327536	T	0.35421	1.31	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62575	0.2439	M	0.84082	2.675	0.80722	D	1	D	0.59767	0.986	D	0.68353	0.957	T	0.68830	-0.5305	10	0.87932	D	0	-22.5532	14.7482	0.69505	0.0:0.0:0.0:1.0	.	205	Q5GJ75	TP8L3_HUMAN	V	205	ENSP00000328016:M205V	ENSP00000328016:M205V	M	-	1	0	TNFAIP8L3	49137636	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.104000	0.71498	2.077000	0.62373	0.416000	0.27883	ATG		0.512	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	NM_207381		39	134	0	0	0	1	0	39	134				
SUCNR1	56670	broad.mit.edu	37	3	151598945	151598945	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:151598945T>C	ENST00000362032.5	+	3	719	c.614T>C	c.(613-615)tTc>tCc	p.F205S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	205						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTGATGTGTTTCTTTTATTAC	0.428																																						ENST00000362032.4																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(613-615)tTc>tCc		succinate receptor 1	Succinic acid(DB00139)						181.0	169.0	173.0					3																	151598945		2203	4300	6503	SO:0001583	missense	56670					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151598945T>C	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"""GPCR / Class A : Orphans"""	4542	protein-coding gene	gene with protein product		606381	"""G protein-coupled receptor 91"""	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.614T>C	3.37:g.151598945T>C	ENSP00000355156:p.Phe205Ser					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.F205S	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	719	+			205					A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	c.614T>C	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935790	0.52972	.	.	ENSG00000198829	ENST00000362032	T	0.39406	1.08	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.379178	0.27262	U	0.020170	T	0.54631	0.1870	M	0.67953	2.075	0.28884	N	0.894267	D	0.57257	0.979	P	0.57960	0.83	T	0.52895	-0.8514	10	0.21540	T	0.41	.	12.9282	0.58272	0.0:0.0:0.1349:0.8651	.	205	Q9BXA5	SUCR1_HUMAN	S	205	ENSP00000355156:F205S	ENSP00000355156:F205S	F	+	2	0	SUCNR1	153081635	0.921000	0.31238	1.000000	0.80357	0.850000	0.48378	1.154000	0.31688	2.205000	0.71048	0.528000	0.53228	TTC		0.428	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050		6	228	0	0	0	1	0	6	228				
F13A1	2162	broad.mit.edu	37	6	6174830	6174830	+	Missense_Mutation	SNP	G	G	A	rs143711562	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:6174830G>A	ENST00000264870.3	-	12	1995	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	577					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.T577M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGGCTCCAGCGTCACGTCGAA	0.512													G|||	5	0.000998403	0.0008	0.0	5008	,	,		18423	0.0		0.004	False		,,,				2504	0.0					ENST00000264870.3																			1	Substitution - Missense(1)	p.T577M(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(1729-1731)aCg>aTg		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	251.0	223.0	233.0		1730	-4.9	0.0	6	dbSNP_134	233	25,8575	17.3+/-56.4	0,25,4275	yes	missense	F13A1	NM_000129.3	81	0,26,6477	AA,AG,GG		0.2907,0.0227,0.1999	benign	577/733	6174830	26,12980	2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6174830G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1730C>T	6.37:g.6174830G>A	ENSP00000264870:p.Thr577Met						p.T577M	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			12	1995	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	577					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.1730C>T	CCDS4496.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	5.273	0.235816	0.10023	2.27E-4	0.002907	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.70749	-0.51	5.77	-4.92	0.03075	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.949218	0.08841	N	0.885816	T	0.43144	0.1234	M	0.76002	2.32	0.09310	N	1	B;B	0.32918	0.321;0.39	B;B	0.26517	0.07;0.043	T	0.46205	-0.9208	10	0.56958	D	0.05	.	6.1051	0.20069	0.3301:0.0:0.3672:0.3027	.	514;577	F5H080;P00488	.;F13A_HUMAN	M	577;514	ENSP00000264870:T577M	ENSP00000264870:T577M	T	-	2	0	F13A1	6119829	0.000000	0.05858	0.000000	0.03702	0.229000	0.25112	-0.440000	0.06888	-0.759000	0.04684	-0.963000	0.02626	ACG		0.512	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		17	234	0	0	0	1	0	17	234				
LHFPL1	340596	broad.mit.edu	37	X	111914414	111914414	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:111914414G>A	ENST00000371968.3	-	2	444	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGGCATAGCGCCCACATTCT	0.592																																						ENST00000371968.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						c.(205-207)Cgc>Tgc		lipoma HMGIC fusion partner-like 1							141.0	125.0	130.0					X																	111914414		2203	4300	6503	SO:0001583	missense	340596					integral to membrane		g.chrX:111914414G>A	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.205C>T	X.37:g.111914414G>A	ENSP00000361036:p.Arg69Cys					LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69C	p.R69C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN			2	444	-			69					A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	c.205C>T	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861972	0.71949	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.73152	-0.72;-0.72	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.83166	0.5195	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.83944	0.0313	10	0.49607	T	0.09	-29.645	10.2057	0.43112	0.0:0.0:0.8026:0.1974	.	69;69	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	C	69	ENSP00000361036:R69C;ENSP00000444573:R69C	ENSP00000361036:R69C	R	-	1	0	LHFPL1	111801070	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.553000	0.53713	2.456000	0.83038	0.600000	0.82982	CGC		0.592	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		94	122	0	0	0	1	0	94	122				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	80	0	0	0	1	0	4	80				
POLN	353497	broad.mit.edu	37	4	2210033	2210033	+	Missense_Mutation	SNP	T	T	C	rs554874741	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:2210033T>C	ENST00000511885.2	-	5	748	c.395A>G	c.(394-396)aAg>aGg	p.K132R	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.K132R			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	132					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTTATGCCCCTTTTTCTGTAG	0.313								DNA polymerases (catalytic subunits)																														ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(394-396)aAg>aGg	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							72.0	77.0	76.0					4																	2210033		2201	4295	6496	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2210033T>C	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.395A>G	4.37:g.2210033T>C	ENSP00000435506:p.Lys132Arg					POLN_ENST00000382865.1_Missense_Mutation_p.K132R|POLN_ENST00000515357.1_5'UTR	p.K132R			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		5	748	-			132					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.395A>G	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	T	6.555	0.470658	0.12461	.	.	ENSG00000130997	ENST00000511885;ENST00000382865	T;T	0.44881	0.91;0.91	5.27	-10.5	0.00291	.	1.849850	0.02287	N	0.069972	T	0.18425	0.0442	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.11155	-1.0599	10	0.36615	T	0.2	0.6144	1.363	0.02195	0.1312:0.2643:0.2147:0.3898	.	132;132	E7ERY2;Q7Z5Q5	.;DPOLN_HUMAN	R	132	ENSP00000435506:K132R;ENSP00000372316:K132R	ENSP00000372316:K132R	K	-	2	0	POLN	2179831	0.000000	0.05858	0.000000	0.03702	0.361000	0.29550	-0.566000	0.05922	-2.310000	0.00650	-0.527000	0.04329	AAG		0.313	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		4	263	0	0	0	1	0	4	263				
OR8K3	219473	broad.mit.edu	37	11	56085997	56085997	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:56085997G>A	ENST00000312711.1	+	1	215	c.215G>A	c.(214-216)gGt>gAt	p.G72D		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATGGATCTTGGTTATTCAACA	0.378																																						ENST00000312711.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(214-216)gGt>gAt		olfactory receptor, family 8, subfamily K, member 3							147.0	150.0	149.0					11																	56085997		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56085997G>A	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.215G>A	11.37:g.56085997G>A	ENSP00000323555:p.Gly72Asp						p.G72D	NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN			1	215	+	Esophageal squamous(21;0.00448)		72					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.215G>A	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326825	0.41197	.	.	ENSG00000181689	ENST00000312711	T	0.00433	7.43	4.65	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.01489	0.0048	M	0.89968	3.075	0.35337	D	0.786112	D	0.71674	0.998	D	0.68765	0.96	T	0.50083	-0.8869	10	0.59425	D	0.04	.	15.2021	0.73147	0.0:0.0:1.0:0.0	.	72	Q8NH51	OR8K3_HUMAN	D	72	ENSP00000323555:G72D	ENSP00000323555:G72D	G	+	2	0	OR8K3	55842573	0.431000	0.25546	0.998000	0.56505	0.066000	0.16364	3.891000	0.56227	2.565000	0.86533	0.637000	0.83480	GGT		0.378	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		126	203	0	0	0	1	0	126	203				
KBTBD8	84541	broad.mit.edu	37	3	67058751	67058751	+	Missense_Mutation	SNP	G	G	A	rs536406085	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:67058751G>A	ENST00000417314.2	+	4	1797	c.1748G>A	c.(1747-1749)cGg>cAg	p.R583Q	KBTBD8_ENST00000460576.1_Missense_Mutation_p.R141Q|KBTBD8_ENST00000295568.4_Missense_Mutation_p.R557Q			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	583						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GACCTTGGCCGGCATTTTGAA	0.443													G|||	3	0.000599042	0.0	0.0	5008	,	,		18206	0.002		0.001	False		,,,				2504	0.0					ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1669-1671)cGg>cAg		kelch repeat and BTB (POZ) domain containing 8							66.0	66.0	66.0					3																	67058751		2203	4300	6503	SO:0001583	missense	84541							g.chr3:67058751G>A	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1748G>A	3.37:g.67058751G>A	ENSP00000401878:p.Arg583Gln					KBTBD8_ENST00000417314.2_Missense_Mutation_p.R583Q|KBTBD8_ENST00000460576.1_Missense_Mutation_p.R141Q	p.R557Q	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	4	1801	+		Lung NSC(201;0.0765)	583					B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	c.1670G>A	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652234	0.67472	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.71817	-0.59;-0.45;-0.6	5.37	5.37	0.77165	.	0.053759	0.85682	D	0.000000	T	0.76586	0.4008	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.70227	0.456;0.968	T	0.77632	-0.2515	10	0.48119	T	0.1	.	19.1113	0.93317	0.0:0.0:1.0:0.0	.	141;583	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	Q	557;141;583	ENSP00000295568:R557Q;ENSP00000419738:R141Q;ENSP00000401878:R583Q	ENSP00000295568:R557Q	R	+	2	0	KBTBD8	67141441	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.828000	0.99408	2.523000	0.85059	0.650000	0.86243	CGG		0.443	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		11	145	0	0	0	1	0	11	145				
MUC17	140453	broad.mit.edu	37	7	100685442	100685442	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:100685442T>A	ENST00000306151.4	+	3	10809	c.10745T>A	c.(10744-10746)cTc>cAc	p.L3582H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3582	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAACTATGCTCCTCAGCAGC	0.473																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10744-10746)cTc>cAc		mucin 17, cell surface associated							181.0	175.0	177.0					7																	100685442		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685442T>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10745T>A	7.37:g.100685442T>A	ENSP00000302716:p.Leu3582His						p.L3582H	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10809	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3582			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10745T>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	5.538	0.284198	0.10513	.	.	ENSG00000169876	ENST00000306151	T	0.02369	4.32	0.782	-0.342	0.12635	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	D	0.70935	0.971	T	0.45175	-0.9279	9	0.38643	T	0.18	.	5.2679	0.15609	0.0:0.5666:0.0:0.4334	.	3582	Q685J3	MUC17_HUMAN	H	3582	ENSP00000302716:L3582H	ENSP00000302716:L3582H	L	+	2	0	MUC17	100472162	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.111000	0.15458	-0.822000	0.04306	-1.026000	0.02426	CTC		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		146	166	0	0	0	1	0	146	166				
OR10J3	441911	broad.mit.edu	37	1	159284144	159284144	+	Silent	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:159284144G>T	ENST00000332217.5	-	1	305	c.306C>A	c.(304-306)ctC>ctA	p.L102L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GATAGAAGAAGAGCTGAGTGG	0.502																																						ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(304-306)ctC>ctA		olfactory receptor, family 10, subfamily J, member 3							105.0	102.0	103.0					1																	159284144		2203	4300	6503	SO:0001819	synonymous_variant	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284144G>T		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.306C>A	1.37:g.159284144G>T							p.L102L	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	305	-	all_hematologic(112;0.0429)		102						Silent	SNP	ENST00000332217.5	37	c.306C>A	CCDS30909.1																																																																																				0.502	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			19	130	1	0	2.94398e-08	1	3.15766e-08	19	130				
SMARCC1	6599	broad.mit.edu	37	3	47762184	47762184	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:47762184A>C	ENST00000254480.5	-	7	807	c.688T>G	c.(688-690)Tta>Gta	p.L230V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	230					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CAATGCACTAACACTTGCTTC	0.353																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(688-690)Tta>Gta		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							198.0	197.0	197.0					3																	47762184		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47762184A>C	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.688T>G	3.37:g.47762184A>C	ENSP00000254480:p.Leu230Val					SMARCC1_ENST00000425518.1_5'UTR	p.L230V	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	7	807	-			230					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.688T>G	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.069026	0.55539	.	.	ENSG00000173473	ENST00000254480	T	0.56611	0.45	5.56	-0.691	0.11305	BRCT (1);Chromo domain/shadow (1);	0.072196	0.56097	D	0.000029	T	0.50360	0.1611	M	0.78637	2.42	0.34184	D	0.671281	B	0.29886	0.26	B	0.27608	0.081	T	0.61108	-0.7129	10	0.87932	D	0	-2.8385	12.3941	0.55374	0.237:0.0:0.763:0.0	.	230	Q92922	SMRC1_HUMAN	V	230	ENSP00000254480:L230V	ENSP00000254480:L230V	L	-	1	2	SMARCC1	47737188	1.000000	0.71417	0.960000	0.40013	0.960000	0.62799	0.963000	0.29293	-0.140000	0.11394	0.482000	0.46254	TTA		0.353	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			45	338	0	0	0	1	0	45	338				
FBXW7	55294	broad.mit.edu	37	4	153251912	153251912	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:153251912C>G	ENST00000281708.4	-	7	2323	c.1094G>C	c.(1093-1095)tGg>tCg	p.W365S	FBXW7_ENST00000296555.5_Missense_Mutation_p.W247S|FBXW7_ENST00000263981.5_Missense_Mutation_p.W285S|FBXW7_ENST00000393956.3_Missense_Mutation_p.W189S|FBXW7_ENST00000603841.1_Missense_Mutation_p.W365S|FBXW7_ENST00000603548.1_Missense_Mutation_p.W365S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	365					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCCTCGCCTCCAGTTAGTATC	0.398			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1093-1095)tGg>tCg		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							338.0	290.0	306.0					4																	153251912		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153251912C>G	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1094G>C	4.37:g.153251912C>G	ENSP00000281708:p.Trp365Ser					FBXW7_ENST00000603841.1_Missense_Mutation_p.W365S|FBXW7_ENST00000603548.1_Missense_Mutation_p.W365S|FBXW7_ENST00000393956.3_Missense_Mutation_p.W189S|FBXW7_ENST00000263981.5_Missense_Mutation_p.W285S|FBXW7_ENST00000296555.5_Missense_Mutation_p.W247S	p.W365S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			7	2323	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	365					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1094G>C	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816664	0.90790	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.66638	-0.15;-0.19;-0.22;0.03	6.07	6.07	0.98685	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.82199	0.4985	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82049	-0.0650	10	0.87932	D	0	-10.918	20.6439	0.99570	0.0:1.0:0.0:0.0	.	189;365;247;285	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	S	365;247;285;189	ENSP00000281708:W365S;ENSP00000296555:W247S;ENSP00000263981:W285S;ENSP00000377528:W189S	ENSP00000263981:W285S	W	-	2	0	FBXW7	153471362	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	TGG		0.398	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			11	277	0	0	0	1	0	11	277				
CCDC58	131076	broad.mit.edu	37	3	122090540	122090540	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:122090540A>C	ENST00000291458.5	-	2	165	c.159T>G	c.(157-159)tgT>tgG	p.C53W	CCDC58_ENST00000479899.1_Missense_Mutation_p.C39W|CCDC58_ENST00000497726.1_Intron	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	53						mitochondrion (GO:0005739)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		AAAGTTGTTTACAGGTTTGGC	0.373																																						ENST00000291458.5																			0				large_intestine(1)|lung(1)	2						c.(157-159)tgT>tgG		coiled-coil domain containing 58							113.0	108.0	109.0					3																	122090540		2203	4300	6503	SO:0001583	missense	131076							g.chr3:122090540A>C	AK090592	CCDS33838.1	3q21.1	2006-01-17			ENSG00000160124	ENSG00000160124			31136	protein-coding gene	gene with protein product							Standard	XM_005247108		Approved	FLJ33273	uc003eey.3	Q4VC31	OTTHUMG00000159490	ENST00000291458.5:c.159T>G	3.37:g.122090540A>C	ENSP00000291458:p.Cys53Trp					CCDC58_ENST00000497726.1_Intron|CCDC58_ENST00000479899.1_Missense_Mutation_p.C39W	p.C53W	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	2	165	-			53					Q32LY6	Missense_Mutation	SNP	ENST00000291458.5	37	c.159T>G	CCDS33838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.04|17.04	3.287271|3.287271	0.59867|0.59867	.|.	.|.	ENSG00000160124|ENSG00000160124	ENST00000291458;ENST00000479899|ENST00000479414	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77322|.	0.4113|.	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.80576|.	-0.1321|.	9|.	0.87932|.	D|.	0|.	.|.	7.8536|7.8536	0.29470|0.29470	0.8428:0.0:0.1572:0.0|0.8428:0.0:0.1572:0.0	.|.	53|.	Q4VC31|.	CCD58_HUMAN|.	W|E	53;39|50	.|.	ENSP00000291458:C53W|.	C|X	-|-	3|1	2|0	CCDC58|CCDC58	123573230|123573230	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.955000|4.955000	0.63638|0.63638	2.267000|2.267000	0.75376|0.75376	0.383000|0.383000	0.25322|0.25322	TGT|TAA		0.373	CCDC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355754.1	NM_001017928		80	126	0	0	0	1	0	80	126				
ANKRD50	57182	broad.mit.edu	37	4	125631651	125631651	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:125631651C>T	ENST00000504087.1	-	2	1053	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	6										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACTTTCTCTTCCCAAGGATTA	0.408																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(16-18)Gaa>Aaa		ankyrin repeat domain 50							108.0	116.0	113.0					4																	125631651		2203	4299	6502	SO:0001583	missense	57182							g.chr4:125631651C>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.16G>A	4.37:g.125631651C>T	ENSP00000425658:p.Glu6Lys					ANKRD50_ENST00000515641.1_Intron	p.E6K	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			2	1053	-			6					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.16G>A	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836255	0.71373	.	.	ENSG00000151458	ENST00000504087	T	0.18810	2.19	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000006	T	0.13884	0.0336	N	0.08118	0	0.80722	D	1	B	0.17268	0.021	B	0.15870	0.014	T	0.08722	-1.0708	10	0.87932	D	0	.	17.2967	0.87172	0.0:1.0:0.0:0.0	.	6	Q9ULJ7	ANR50_HUMAN	K	6	ENSP00000425658:E6K	ENSP00000425658:E6K	E	-	1	0	ANKRD50	125851101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.634000	0.46528	2.756000	0.94617	0.561000	0.74099	GAA		0.408	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		28	287	0	0	0	1	0	28	287				
TFAP2B	7021	broad.mit.edu	37	6	50810826	50810826	+	Silent	SNP	G	G	T	rs151001753	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:50810826G>T	ENST00000393655.3	+	7	1273	c.1104G>T	c.(1102-1104)acG>acT	p.T368T	TFAP2B_ENST00000263046.4_Silent_p.T377T	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	368				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAGAATTTACGGATCTACTGG	0.557																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1129-1131)acG>acT		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							96.0	101.0	99.0					6																	50810826		2203	4300	6503	SO:0001819	synonymous_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50810826G>T	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1104G>T	6.37:g.50810826G>T						TFAP2B_ENST00000393655.3_Silent_p.T368T	p.T377T			Q92481	AP2B_HUMAN			8	1297	+	Lung NSC(77;0.156)		368	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).				Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	c.1131G>T	CCDS4934.2																																																																																				0.557	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		37	265	1	0	2.51541e-25	1	2.90913e-25	37	265				
OR52E6	390078	broad.mit.edu	37	11	5862807	5862807	+	Missense_Mutation	SNP	A	A	C	rs370082903		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:5862807A>C	ENST00000329322.5	-	1	320	c.321T>G	c.(319-321)caT>caG	p.H107Q	OR52E6_ENST00000379946.2_Missense_Mutation_p.H111Q|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGAAGAAATGGATGAAGA	0.463																																						ENST00000329322.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(319-321)caT>caG		olfactory receptor, family 52, subfamily E, member 6							169.0	163.0	165.0					11																	5862807		2201	4296	6497	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862807A>C	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.321T>G	11.37:g.5862807A>C	ENSP00000328878:p.His107Gln					TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.H111Q	p.H107Q	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	320	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	107					Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.321T>G	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.279464	0.40294	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00547	6.66;6.66	3.55	-0.74	0.11115	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.02304	0.0071	M	0.92970	3.365	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.11518	-1.0584	10	0.87932	D	0	.	8.322	0.32134	0.6377:0.0:0.3623:0.0	.	107	Q96RD3	O52E6_HUMAN	Q	107;111	ENSP00000328878:H107Q;ENSP00000369279:H111Q	ENSP00000328878:H107Q	H	-	3	2	OR52E6	5819383	0.000000	0.05858	0.048000	0.18961	0.880000	0.50808	-0.907000	0.04067	-0.076000	0.12775	-0.490000	0.04691	CAT		0.463	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		31	344	0	0	0	1	0	31	344				
GRIN3A	116443	broad.mit.edu	37	9	104433268	104433268	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr9:104433268G>T	ENST00000361820.3	-	3	2026	c.1426C>A	c.(1426-1428)Cca>Aca	p.P476T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	476					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GTCCACATTGGCTTTCCCATG	0.507																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(1426-1428)Cca>Aca		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						155.0	158.0	157.0					9																	104433268		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104433268G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1426C>A	9.37:g.104433268G>T	ENSP00000355155:p.Pro476Thr						p.P476T	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			3	2026	-		Acute lymphoblastic leukemia(62;0.0568)	476					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1426C>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461815	0.63513	.	.	ENSG00000198785	ENST00000361820	D	0.86230	-2.09	5.76	5.76	0.90799	.	0.064320	0.64402	D	0.000007	D	0.91985	0.7461	M	0.81341	2.54	0.80722	D	1	P	0.37176	0.586	P	0.47786	0.557	D	0.90952	0.4806	10	0.51188	T	0.08	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	476	Q8TCU5	NMD3A_HUMAN	T	476	ENSP00000355155:P476T	ENSP00000355155:P476T	P	-	1	0	GRIN3A	103473089	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.772000	0.98984	2.882000	0.98803	0.655000	0.94253	CCA		0.507	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			26	321	1	0	1.77063e-15	1	1.99571e-15	26	321				
TCERG1	10915	broad.mit.edu	37	5	145838643	145838643	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr5:145838643A>C	ENST00000296702.5	+	4	673	c.635A>C	c.(634-636)cAg>cCg	p.Q212P	TCERG1_ENST00000394421.2_Missense_Mutation_p.Q212P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	212	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			gctcaggcccaggcccaggcc	0.736																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(634-636)cAg>cCg		transcription elongation regulator 1							11.0	14.0	13.0					5																	145838643		2182	4271	6453	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838643A>C	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.635A>C	5.37:g.145838643A>C	ENSP00000296702:p.Gln212Pro					TCERG1_ENST00000394421.2_Missense_Mutation_p.Q212P	p.Q212P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	673	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	212			Ala/Gln-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.635A>C	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	4.403	0.074420	0.08485	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.35605	1.3;1.3	4.43	4.43	0.53597	.	0.256047	0.27659	N	0.018395	T	0.24586	0.0596	L	0.27053	0.805	0.34474	D	0.703081	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.06405	0.002;0.0;0.0	T	0.23940	-1.0174	10	0.33940	T	0.23	-0.7271	10.2474	0.43350	1.0:0.0:0.0:0.0	.	212;212;212	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	P	212	ENSP00000296702:Q212P;ENSP00000377943:Q212P	ENSP00000296702:Q212P	Q	+	2	0	TCERG1	145818836	0.902000	0.30710	0.987000	0.45799	0.014000	0.08584	3.105000	0.50314	1.986000	0.57962	0.379000	0.24179	CAG		0.736	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		22	55	0	0	0	1	0	22	55				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	91	1	0	0.014758	1	0.014758	5	91				
ZNF99	7652	broad.mit.edu	37	19	22940995	22940995	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:22940995T>A	ENST00000596209.1	-	4	1806	c.1716A>T	c.(1714-1716)aaA>aaT	p.K572N	ZNF99_ENST00000397104.3_Missense_Mutation_p.K481N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	572					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTTAAAAGCTTTGCCACATT	0.358																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1441-1443)aaA>aaT		zinc finger protein 99							50.0	54.0	52.0					19																	22940995		2097	4235	6332	SO:0001583	missense	7652							g.chr19:22940995T>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1716A>T	19.37:g.22940995T>A	ENSP00000472969:p.Lys572Asn					ZNF99_ENST00000596209.1_Missense_Mutation_p.K572N	p.K481N							5	1442	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1443A>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	11.49	1.653058	0.29336	.	.	ENSG00000213973	ENST00000397104	T	0.07908	3.15	1.57	-1.26	0.09376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30665	0.0772	M	0.92122	3.275	0.22947	N	0.998528	D	0.89917	1.0	D	0.87578	0.998	T	0.06625	-1.0816	9	0.87932	D	0	.	5.7165	0.17962	0.0:0.2901:0.0:0.7099	.	481	A8MXY4	ZNF99_HUMAN	N	481	ENSP00000380293:K481N	ENSP00000380293:K481N	K	-	3	2	ZNF99	22732835	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.671000	0.05250	-0.664000	0.05324	-0.548000	0.04221	AAA		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		12	99	0	0	0	1	0	12	99				
HVCN1	84329	broad.mit.edu	37	12	111099001	111099001	+	Silent	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:111099001A>G	ENST00000356742.5	-	3	1027	c.274T>C	c.(274-276)Ttg>Ctg	p.L92L	HVCN1_ENST00000548312.1_Silent_p.L92L|HVCN1_ENST00000242607.8_Silent_p.L92L|HVCN1_ENST00000439744.2_Silent_p.L72L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	92					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGTTTCCTCAACATGCCCCTG	0.652																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(274-276)Ttg>Ctg		hydrogen voltage-gated channel 1							51.0	58.0	55.0					12																	111099001		2203	4300	6503	SO:0001819	synonymous_variant	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099001A>G	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.274T>C	12.37:g.111099001A>G						HVCN1_ENST00000439744.2_Silent_p.L72L|HVCN1_ENST00000548312.1_Silent_p.L92L|HVCN1_ENST00000242607.8_Silent_p.L92L	p.L92L			Q96D96	HVCN1_HUMAN			3	1027	-			92					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	c.274T>C	CCDS31900.1																																																																																				0.652	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		46	99	0	0	0	1	0	46	99				
SYNJ1	8867	broad.mit.edu	37	21	34053878	34053878	+	Silent	SNP	T	T	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr21:34053878T>A	ENST00000322229.7	-	10	1280	c.1281A>T	c.(1279-1281)tcA>tcT	p.S427S	SYNJ1_ENST00000382491.3_Silent_p.S427S|SYNJ1_ENST00000382499.2_Silent_p.S466S|SYNJ1_ENST00000433931.2_Silent_p.S466S|SYNJ1_ENST00000357345.3_Silent_p.S427S			O43426	SYNJ1_HUMAN	synaptojanin 1	427	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CGGACCACATTGACCGAAAAA	0.393																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(1396-1398)tcA>tcT		synaptojanin 1							137.0	133.0	134.0					21																	34053878		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34053878T>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1281A>T	21.37:g.34053878T>A						SYNJ1_ENST00000433931.2_Silent_p.S466S|SYNJ1_ENST00000322229.7_Silent_p.S427S|SYNJ1_ENST00000382491.3_Silent_p.S427S|SYNJ1_ENST00000357345.3_Silent_p.S427S	p.S466S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			11	1397	-			427					O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.1398A>T	CCDS54484.1																																																																																				0.393	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				9	264	0	0	0	1	0	9	264				
KCNJ5	3762	broad.mit.edu	37	11	128781870	128781870	+	Silent	SNP	C	C	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:128781870C>A	ENST00000338350.4	+	3	1054	c.702C>A	c.(700-702)atC>atA	p.I234I	KCNJ5_ENST00000533599.1_Silent_p.I234I|KCNJ5_ENST00000529694.1_Silent_p.I234I			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	234					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	AGGCCTCCATCCGGGCCAAGC	0.607																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(700-702)atC>atA		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						81.0	85.0	84.0					11																	128781870		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781870C>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.702C>A	11.37:g.128781870C>A						KCNJ5_ENST00000533599.1_Silent_p.I234I|KCNJ5_ENST00000338350.4_Silent_p.I234I	p.I234I	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1078	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	234					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.702C>A	CCDS8479.1																																																																																				0.607	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		6	164	1	0	0.00116845	1	0.00119541	6	164				
ACACB	32	broad.mit.edu	37	12	109610081	109610081	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:109610081C>T	ENST00000338432.7	+	6	1156	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	ACACB_ENST00000377854.5_Splice_Site_p.A346V|ACACB_ENST00000377848.3_Splice_Site_p.A346V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	346	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGTTTGCAGGCGGTGTGGGCT	0.532																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.e6-1		acetyl-CoA carboxylase beta	Biotin(DB00121)						209.0	230.0	223.0					12																	109610081		2203	4300	6503	SO:0001630	splice_region_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109610081C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1036-1C>T	12.37:g.109610081C>T						ACACB_ENST00000377848.3_Splice_Site_p.A346_splice|ACACB_ENST00000377854.5_Splice_Site_p.A346_splice	p.A346_splice			O00763	ACACB_HUMAN			6	1156	+			346			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Splice_Site	SNP	ENST00000338432.7	37	c.1035_splice	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571913	0.96553	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.95918	-3.85;-3.85;-3.85	5.23	5.23	0.72850	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.047186	0.85682	D	0.000000	D	0.97626	0.9222	H	0.98833	4.345	0.80722	D	1	B	0.32939	0.391	B	0.34824	0.19	D	0.98278	1.0507	10	0.87932	D	0	.	18.7639	0.91864	0.0:1.0:0.0:0.0	.	346	O00763	ACACB_HUMAN	V	346	ENSP00000341044:A346V;ENSP00000367079:A346V;ENSP00000367085:A346V	ENSP00000341044:A346V	A	+	2	0	ACACB	108094464	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.776000	0.85560	2.607000	0.88179	0.655000	0.94253	GCG		0.532	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	Missense_Mutation	188	351	0	0	0	1	0	188	351				
MTM1	4534	broad.mit.edu	37	X	149828189	149828189	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:149828189T>C	ENST00000370396.2	+	12	1367	c.1313T>C	c.(1312-1314)tTt>tCt	p.F438S	MTM1_ENST00000542741.1_Missense_Mutation_p.F343S|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.F323S|MTM1_ENST00000413012.2_Missense_Mutation_p.F401S	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	438	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTATTTTTCTCCAGTTT	0.313																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1312-1314)tTt>tCt		myotubularin 1							163.0	137.0	146.0					X																	149828189		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149828189T>C	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1313T>C	X.37:g.149828189T>C	ENSP00000359423:p.Phe438Ser					MTM1_ENST00000413012.2_Missense_Mutation_p.F401S|MTM1_ENST00000542741.1_Missense_Mutation_p.F343S|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.F323S	p.F438S	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			12	1367	+	Acute lymphoblastic leukemia(192;6.56e-05)		438			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.1313T>C	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.715052	0.89112	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34	5.54	5.54	0.83059	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.99260	0.9742	H	0.99732	4.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98329	1.0532	10	0.87932	D	0	.	14.723	0.69323	0.0:0.0:0.0:1.0	.	401;438	B7Z491;Q13496	.;MTM1_HUMAN	S	438;343;323;401	ENSP00000359423:F438S;ENSP00000444015:F343S;ENSP00000439784:F323S;ENSP00000389157:F401S	ENSP00000359423:F438S	F	+	2	0	MTM1	149578847	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.003000	0.88520	1.858000	0.53909	0.441000	0.28932	TTT		0.313	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		9	127	0	0	0	1	0	9	127				
SLC39A4	55630	broad.mit.edu	37	8	145638211	145638211	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:145638211C>T	ENST00000301305.3	-	11	1852	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	SLC39A4_ENST00000276833.5_Missense_Mutation_p.E558K|SLC39A4_ENST00000531013.1_5'UTR|GS1-393G12.14_ENST00000607491.1_RNA	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	583					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TCGCTCTCCTCGCTGACTCCA	0.677																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(1672-1674)Gag>Aag		solute carrier family 39 (zinc transporter), member 4							33.0	36.0	35.0					8																	145638211		2203	4300	6503	SO:0001583	missense	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145638211C>T	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1747G>A	8.37:g.145638211C>T	ENSP00000301305:p.Glu583Lys					SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_Missense_Mutation_p.E583K	p.E558K	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		10	1975	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		583					Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	c.1672G>A	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650368	0.47362	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.50813	0.73;0.73	4.09	4.09	0.47781	.	0.450893	0.22498	N	0.059277	T	0.53465	0.1798	M	0.79011	2.435	0.41375	D	0.987511	P;P;P	0.51351	0.919;0.699;0.944	B;B;P	0.46208	0.202;0.108;0.507	T	0.57625	-0.7779	10	0.27785	T	0.31	-12.7152	14.2031	0.65716	0.0:1.0:0.0:0.0	.	583;558;583	Q6P5W5;A6NDY5;A8K3E8	S39A4_HUMAN;.;.	K	558;583	ENSP00000276833:E558K;ENSP00000301305:E583K	ENSP00000276833:E558K	E	-	1	0	SLC39A4	145609019	0.019000	0.18553	0.818000	0.32626	0.909000	0.53808	1.167000	0.31847	2.003000	0.58678	0.456000	0.33151	GAG		0.677	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			19	32	0	0	0	1	0	19	32				
FAM171A1	221061	broad.mit.edu	37	10	15254949	15254949	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr10:15254949C>G	ENST00000378116.4	-	8	2644	c.2638G>C	c.(2638-2640)Gag>Cag	p.E880Q	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	880						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCCTCTCCTCCCGTTTCTGC	0.507																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2638-2640)Gag>Cag		family with sequence similarity 171, member A1							130.0	128.0	129.0					10																	15254949		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15254949C>G	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2638G>C	10.37:g.15254949C>G	ENSP00000367356:p.Glu880Gln						p.E880Q	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2644	-			880					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.2638G>C	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810706	0.70797	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.55760	0.5	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.75102	0.3804	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78881	-0.2029	10	0.87932	D	0	-34.1872	18.5102	0.90913	0.0:1.0:0.0:0.0	.	880	Q5VUB5	F1711_HUMAN	Q	880;879	ENSP00000367356:E880Q	ENSP00000367356:E880Q	E	-	1	0	FAM171A1	15294955	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	5.909000	0.69923	2.597000	0.87782	0.563000	0.77884	GAG		0.507	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		19	244	0	0	0	1	0	19	244				
RNF216	54476	broad.mit.edu	37	7	5662580	5662580	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:5662580G>A	ENST00000425013.2	-	17	2736	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895W	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	838	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R895W(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGTTGACCCGCACGTTGGGC	0.642																																						ENST00000425013.2																		FBXL18/RNF216(2)	1	Substitution - Missense(1)	p.R895W(1)	endometrium(1)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(2512-2514)Cgg>Tgg		ring finger protein 216							102.0	109.0	107.0					7																	5662580		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5662580G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2512C>T	7.37:g.5662580G>A	ENSP00000404602:p.Arg838Trp					RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895W	p.R838W	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2736	-		Ovarian(82;0.07)	838			Pro-rich.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2512C>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464480	0.63513	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.51325	0.75;0.71	4.89	1.82	0.25136	.	0.065480	0.64402	D	0.000013	T	0.58609	0.2134	L	0.47716	1.5	0.42644	D	0.99342	D;D	0.89917	1.0;1.0	D;D	0.77004	0.978;0.989	T	0.55761	-0.8090	10	0.46703	T	0.11	-14.9668	12.9946	0.58640	0.0:0.0:0.4526:0.5474	.	838;895	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	W	838;895;650	ENSP00000404602:R838W;ENSP00000374552:R895W	ENSP00000374552:R895W	R	-	1	2	RNF216	5629106	1.000000	0.71417	0.097000	0.21041	0.972000	0.66771	2.461000	0.45040	0.126000	0.18424	0.561000	0.74099	CGG		0.642	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		5	248	0	0	0	1	0	5	248				
RAP2C	57826	broad.mit.edu	37	X	131351247	131351247	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:131351247G>T	ENST00000342983.2	-	2	796	c.50C>A	c.(49-51)tCt>tAt	p.S17Y	RAP2C-AS1_ENST00000421483.2_RNA|RAP2C-AS1_ENST00000441399.2_RNA|RAP2C_ENST00000460462.1_Intron|RAP2C_ENST00000370874.1_Missense_Mutation_p.S17Y	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	17					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					AGTAAGGGCAGATTTGCCAAC	0.507																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(49-51)tCt>tAt		RAP2C, member of RAS oncogene family							177.0	181.0	180.0					X																	131351247		2203	4300	6503	SO:0001583	missense	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131351247G>T	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.50C>A	X.37:g.131351247G>T	ENSP00000340274:p.Ser17Tyr					RP5-842K24.2_ENST00000421483.1_RNA|RAP2C_ENST00000460462.1_Intron|RAP2C_ENST00000370874.1_Missense_Mutation_p.S17Y	p.S17Y	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			2	796	-	Acute lymphoblastic leukemia(192;0.000127)		17					B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	c.50C>A	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	g	28.0	4.882181	0.91740	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	D;D	0.86497	-2.13;-2.13	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99170	1.0864	10	0.87932	D	0	.	17.8602	0.88779	0.0:0.0:1.0:0.0	.	17	Q9Y3L5	RAP2C_HUMAN	Y	17	ENSP00000340274:S17Y;ENSP00000359911:S17Y	ENSP00000340274:S17Y	S	-	2	0	RAP2C	131178928	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.236000	0.73375	0.502000	0.49764	TCT		0.507	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		7	523	1	0	5.4927e-09	1	5.98795e-09	7	523				
C3	718	broad.mit.edu	37	19	6702526	6702526	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:6702526G>T	ENST00000245907.6	-	18	2402	c.2310C>A	c.(2308-2310)agC>agA	p.S770R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	770					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TCCACAGCCAGCTCTCTGGGA	0.517																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2308-2310)agC>agA		complement component 3							132.0	121.0	125.0					19																	6702526		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6702526G>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2310C>A	19.37:g.6702526G>T	ENSP00000245907:p.Ser770Arg						p.S770R	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	18	2402	-			770					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2310C>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.773186	0.49680	.	.	ENSG00000125730	ENST00000245907	T	0.32753	1.44	5.58	0.391	0.16282	Alpha-2-macroglobulin (1);	0.076303	0.85682	D	0.000000	T	0.61311	0.2337	H	0.96048	3.76	0.37875	D	0.930202	D	0.89917	1.0	D	0.91635	0.999	T	0.64449	-0.6405	10	0.87932	D	0	.	6.9769	0.24681	0.3139:0.0:0.5735:0.1126	.	770	P01024	CO3_HUMAN	R	770	ENSP00000245907:S770R	ENSP00000245907:S770R	S	-	3	2	C3	6653526	0.994000	0.37717	0.998000	0.56505	0.514000	0.34195	0.202000	0.17295	-0.027000	0.13873	-0.797000	0.03246	AGC		0.517	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		79	93	1	0	1.55521e-42	1	1.83047e-42	79	93				
METAP1D	254042	broad.mit.edu	37	2	172926348	172926348	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:172926348C>T	ENST00000315796.4	+	2	550	c.163C>T	c.(163-165)Ccg>Tcg	p.P55S	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	55					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TATAGTTTTGCCGGCTGCAGT	0.398																																						ENST00000315796.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(163-165)Ccg>Tcg		methionyl aminopeptidase type 1D (mitochondrial)							210.0	229.0	223.0					2																	172926348		2203	4300	6503	SO:0001583	missense	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172926348C>T	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.163C>T	2.37:g.172926348C>T	ENSP00000315152:p.Pro55Ser					METAP1D_ENST00000488581.1_3'UTR	p.P55S	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN			2	550	+			55					Q1WNX3	Missense_Mutation	SNP	ENST00000315796.4	37	c.163C>T	CCDS2246.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671201	0.88348	.	.	ENSG00000172878	ENST00000315796	T	0.47869	0.83	5.92	5.92	0.95590	Peptidase M24, structural domain (1);	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	M	0.87097	2.86	0.80722	D	1	D	0.59767	0.986	P	0.58391	0.838	T	0.75929	-0.3144	10	0.87932	D	0	-1.1687	20.3151	0.98650	0.0:1.0:0.0:0.0	.	55	Q6UB28	AMP1D_HUMAN	S	55	ENSP00000315152:P55S	ENSP00000315152:P55S	P	+	1	0	METAP1D	172634594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.955000	0.70306	2.809000	0.96659	0.467000	0.42956	CCG		0.398	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		7	702	0	0	0	1	0	7	702				
ATP8B4	79895	broad.mit.edu	37	15	50168650	50168650	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:50168650T>C	ENST00000284509.6	-	25	2993	c.2852A>G	c.(2851-2853)aAc>aGc	p.N951S	ATP8B4_ENST00000559829.1_Missense_Mutation_p.N951S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	951						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTACGCTTGTTAAAAAGCAG	0.443																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(2851-2853)aAc>aGc		ATPase, class I, type 8B, member 4							113.0	108.0	109.0					15																	50168650		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50168650T>C	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2852A>G	15.37:g.50168650T>C	ENSP00000284509:p.Asn951Ser					ATP8B4_ENST00000559829.1_Missense_Mutation_p.N951S	p.N951S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	25	2993	-		all_lung(180;0.00183)	951					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.2852A>G	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.014696	0.75161	.	.	ENSG00000104043	ENST00000284509	T	0.70164	-0.46	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.74772	0.3760	L	0.41027	1.25	0.47123	D	0.999326	D;P	0.89917	1.0;0.546	D;P	0.91635	0.999;0.52	T	0.74131	-0.3764	10	0.40728	T	0.16	.	14.2189	0.65812	0.0:0.0:0.0:1.0	.	29;951	Q6PG43;Q8TF62	.;AT8B4_HUMAN	S	951	ENSP00000284509:N951S	ENSP00000284509:N951S	N	-	2	0	ATP8B4	47955942	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.073000	0.64395	2.240000	0.73641	0.533000	0.62120	AAC		0.443	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		4	92	0	0	0	1	0	4	92				
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488																																						ENST00000221954.2																			1	Substitution - Missense(1)	p.A94T(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 4							166.0	157.0	160.0					19																	42132119		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132119C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.280G>A	19.37:g.42132119C>T	ENSP00000221954:p.Ala94Thr					CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			2	390	-			94			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.280G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		0.488	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		6	366	0	0	0	1	0	6	366				
WDR64	128025	broad.mit.edu	37	1	241886728	241886728	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:241886728C>T	ENST00000366552.2	+	9	1361	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	WDR64_ENST00000437684.2_Missense_Mutation_p.S385F	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	385								p.S385Y(1)|p.S105Y(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GTCAGCCTTTCCTCTGCAAAG	0.383																																						ENST00000366552.2																			2	Substitution - Missense(2)	p.S385Y(1)|p.S105Y(1)	lung(2)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1153-1155)tCc>tTc		WD repeat domain 64							74.0	69.0	71.0					1																	241886728		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241886728C>T	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1154C>T	1.37:g.241886728C>T	ENSP00000355510:p.Ser385Phe					WDR64_ENST00000437684.2_Missense_Mutation_p.S385F	p.S385F	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		9	1361	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	385					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1154C>T		.	.	.	.	.	.	.	.	.	.	C	16.48	3.134157	0.56828	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.54071	1.63;0.59;4.51	4.7	4.7	0.59300	.	0.109676	0.41194	D	0.000939	T	0.73853	0.3640	M	0.84082	2.675	0.39940	D	0.974396	D	0.71674	0.998	D	0.80764	0.994	T	0.79914	-0.1602	10	0.87932	D	0	-19.9756	14.9266	0.70884	0.0:1.0:0.0:0.0	.	105	D1MPS4	.	F	385;385;156	ENSP00000355510:S385F;ENSP00000402446:S385F;ENSP00000406656:S156F	ENSP00000355510:S385F	S	+	2	0	WDR64	239953351	0.986000	0.35501	0.984000	0.44739	0.619000	0.37552	4.370000	0.59517	2.308000	0.77769	0.563000	0.77884	TCC		0.383	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		17	39	0	0	0	1	0	17	39				
PKHD1L1	93035	broad.mit.edu	37	8	110477389	110477389	+	Silent	SNP	C	C	T	rs376156063		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:110477389C>T	ENST00000378402.5	+	49	8432	c.8328C>T	c.(8326-8328)gaC>gaT	p.D2776D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2776					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D2778D(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTTTGTTGACGTCCAGTATT	0.433										HNSCC(38;0.096)																												ENST00000378402.5																			2	Substitution - coding silent(2)	p.D2778D(2)	prostate(1)|kidney(1)	NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(8326-8328)gaC>gaT		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1		C		0,3904		0,0,1952	106.0	108.0	108.0		8328	4.0	0.2	8		108	1,8275		0,1,4137	no	coding-synonymous	PKHD1L1	NM_177531.4		0,1,6089	TT,TC,CC		0.0121,0.0,0.0082		2776/4244	110477389	1,12179	1952	4138	6090	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110477389C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8328C>T	8.37:g.110477389C>T		HNSCC(38;0.096)					p.D2776D	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8432	+			2776					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.8328C>T	CCDS47911.1																																																																																				0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		12	130	0	0	0	1	0	12	130				
POM121L12	285877	broad.mit.edu	37	7	53104086	53104086	+	Missense_Mutation	SNP	G	G	T	rs539316673		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:53104086G>T	ENST00000408890.4	+	1	738	c.722G>T	c.(721-723)gGc>gTc	p.G241V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	241										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCGAGCCTCGGCCCCTGGAGC	0.647																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(721-723)gGc>gTc		POM121 transmembrane nucleoporin-like 12							45.0	53.0	50.0					7																	53104086		1974	4140	6114	SO:0001583	missense	285877							g.chr7:53104086G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.722G>T	7.37:g.53104086G>T	ENSP00000386133:p.Gly241Val						p.G241V	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	738	+			241					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.722G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	6.756	0.508426	0.12883	.	.	ENSG00000221900	ENST00000408890	T	0.11169	2.8	2.03	-1.15	0.09709	.	.	.	.	.	T	0.04861	0.0131	N	0.14661	0.345	0.09310	N	1	B	0.31174	0.311	B	0.30646	0.118	T	0.39722	-0.9600	9	0.30854	T	0.27	.	2.1335	0.03755	0.3276:0.0:0.4171:0.2553	.	241	Q8N7R1	P1L12_HUMAN	V	241	ENSP00000386133:G241V	ENSP00000386133:G241V	G	+	2	0	POM121L12	53071580	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.188000	0.09642	-0.323000	0.08602	0.561000	0.74099	GGC		0.647	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		5	100	1	0	4.096e-09	1	4.50221e-09	5	100				
HSPA14	51182	broad.mit.edu	37	10	14891775	14891775	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr10:14891775G>A	ENST00000378372.3	+	6	671	c.432G>A	c.(430-432)ccG>ccA	p.P144P		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	144					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TTACTGTCCCGTTTGATTTTG	0.323																																						ENST00000378372.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						c.(430-432)ccG>ccA		heat shock 70kDa protein 14							105.0	110.0	108.0					10																	14891775		2203	4300	6503	SO:0001819	synonymous_variant	51182				'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	g.chr10:14891775G>A	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.432G>A	10.37:g.14891775G>A							p.P144P	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN			6	671	+			144					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Silent	SNP	ENST00000378372.3	37	c.432G>A	CCDS7103.1																																																																																				0.323	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		52	84	0	0	0	1	0	52	84				
HACE1	57531	broad.mit.edu	37	6	105177553	105177553	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:105177553C>T	ENST00000262903.4	-	24	2990	c.2714G>A	c.(2713-2715)gGt>gAt	p.G905D	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.G690D	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	905	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CATTGTGTAACCATAGCTGCC	0.383																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(2713-2715)gGt>gAt		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							126.0	119.0	121.0					6																	105177553		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105177553C>T	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2714G>A	6.37:g.105177553C>T	ENSP00000262903:p.Gly905Asp					HACE1_ENST00000369125.2_Missense_Mutation_p.G690D|HACE1_ENST00000517995.1_5'UTR	p.G905D	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	24	2990	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	905			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.2714G>A	CCDS5050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.437301|4.437301	0.83885|0.83885	.|.	.|.	ENSG00000085382|ENSG00000085382	ENST00000262903;ENST00000369125|ENST00000518503;ENST00000518402	T;T|.	0.62788|.	0.0;0.0|.	5.94|5.94	5.94|5.94	0.96194|0.96194	HECT (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86239|.	0.5885|.	M|M	0.93550|0.93550	3.43|3.43	0.44719|0.44719	D|D	0.997717|0.997717	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.999;0.999|.	D|.	0.88461|.	0.3055|.	10|.	0.66056|.	D|.	0.02|.	.|.	20.4386|20.4386	0.99107|0.99107	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	690;394;905;558|.	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3|.	.;.;HACE1_HUMAN;.|.	D|X	905;690|324;295	ENSP00000262903:G905D;ENSP00000358121:G690D|.	ENSP00000262903:G905D|.	G|W	-|-	2|3	0|0	HACE1|HACE1	105284246|105284246	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.180000|7.180000	0.77674|0.77674	2.831000|2.831000	0.97527|0.97527	0.644000|0.644000	0.83932|0.83932	GGT|TGG		0.383	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		21	180	0	0	0	1	0	21	180				
YME1L1	10730	broad.mit.edu	37	10	27410369	27410369	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr10:27410369G>C	ENST00000326799.3	-	13	1563	c.1415C>G	c.(1414-1416)cCc>cGc	p.P472R	YME1L1_ENST00000375972.3_Missense_Mutation_p.P382R|YME1L1_ENST00000376016.3_Missense_Mutation_p.P415R|YME1L1_ENST00000463270.1_5'Flank	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	472					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCCTTCATTGGGTTTAAAACT	0.318																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1414-1416)cCc>cGc		YME1-like 1 ATPase							123.0	135.0	131.0					10																	27410369		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27410369G>C	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1415C>G	10.37:g.27410369G>C	ENSP00000318480:p.Pro472Arg					YME1L1_ENST00000376016.3_Missense_Mutation_p.P415R|YME1L1_ENST00000375972.3_Missense_Mutation_p.P382R	p.P472R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			13	1563	-			472					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.1415C>G	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693693	0.30052	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	D;D;D	0.92446	-3.04;-3.04;-3.04	5.97	5.06	0.68205	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.105878	0.64402	D	0.000003	D	0.92580	0.7643	N	0.16903	0.455	0.80722	D	1	D;P;B	0.89917	1.0;0.93;0.004	D;P;B	0.91635	0.999;0.563;0.016	D	0.93979	0.7256	10	0.59425	D	0.04	-7.1341	17.2564	0.87057	0.0:0.1257:0.8743:0.0	.	382;415;472	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	R	415;472;472;382;218	ENSP00000365184:P415R;ENSP00000318480:P472R;ENSP00000365139:P382R	ENSP00000318480:P472R	P	-	2	0	YME1L1	27450375	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	7.581000	0.82535	1.517000	0.48917	-0.176000	0.13171	CCC		0.318	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		19	247	0	0	0	1	0	19	247				
ZP2	7783	broad.mit.edu	37	16	21209105	21209105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr16:21209105C>A	ENST00000574002.1	-	19	2559	c.2077G>T	c.(2077-2079)Gag>Tag	p.E693*	ZP2_ENST00000574091.1_Nonsense_Mutation_p.E684*|ZP2_ENST00000219593.4_Nonsense_Mutation_p.E693*|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	693					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCAACCTCCTCCCCTGTTTCA	0.468																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(2077-2079)Gag>Tag		zona pellucida glycoprotein 2 (sperm receptor)							202.0	165.0	177.0					16																	21209105		2200	4300	6500	SO:0001587	stop_gained	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21209105C>A	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.2077G>T	16.37:g.21209105C>A	ENSP00000460971:p.Glu693*					ZP2_ENST00000574091.1_Nonsense_Mutation_p.E684*|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Nonsense_Mutation_p.E693*	p.E693*			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	19	2559	-			693					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Nonsense_Mutation	SNP	ENST00000574002.1	37	c.2077G>T	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513788	0.64522	.	.	ENSG00000103310	ENST00000219593	.	.	.	4.49	-1.38	0.09027	.	1.024750	0.07793	N	0.955258	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	0.3398	0.3978	0.00421	0.3342:0.2836:0.1637:0.2185	.	.	.	.	X	693	.	ENSP00000219593:E693X	E	-	1	0	ZP2	21116606	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.603000	0.02077	-0.170000	0.10816	-0.890000	0.02929	GAG		0.468	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			65	123	1	0	1.59245e-42	1	1.85786e-42	65	123				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	9	0	0	0	1	0	31	9				
SIAH1	6477	broad.mit.edu	37	16	48396115	48396115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr16:48396115G>T	ENST00000380006.2	-	1	1678	c.225C>A	c.(223-225)tgC>tgA	p.C75*	SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000394725.2_Nonsense_Mutation_p.C75*|SIAH1_ENST00000356721.3_Nonsense_Mutation_p.C106*			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	75					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				AAGGGCCCCGGCAAGTTGGAC	0.468																																						ENST00000380006.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(223-225)tgC>tgA		siah E3 ubiquitin protein ligase 1							76.0	75.0	75.0					16																	48396115		2200	4300	6500	SO:0001587	stop_gained	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48396115G>T	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.225C>A	16.37:g.48396115G>T	ENSP00000369343:p.Cys75*					SIAH1_ENST00000356721.3_Nonsense_Mutation_p.C106*|SIAH1_ENST00000394725.2_Nonsense_Mutation_p.C75*	p.C75*			Q8IUQ4	SIAH1_HUMAN			1	1678	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	75					A0FKF3|O43269|Q49A58|Q92880	Nonsense_Mutation	SNP	ENST00000380006.2	37	c.225C>A	CCDS10735.1	.	.	.	.	.	.	.	.	.	.	G	48	14.096883	0.99779	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.2419	19.3841	0.94550	0.0:0.0:1.0:0.0	.	.	.	.	X	106;75;91	.	ENSP00000349156:C106X	C	-	3	2	SIAH1	46953616	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.721000	0.74728	2.590000	0.87494	0.655000	0.94253	TGC		0.468	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			49	77	1	0	6.08268e-21	1	6.9145e-21	49	77				
APP	351	broad.mit.edu	37	21	27462309	27462309	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr21:27462309C>T	ENST00000346798.3	-	3	338	c.305G>A	c.(304-306)cGc>cAc	p.R102H	APP_ENST00000440126.3_Missense_Mutation_p.R97H|APP_ENST00000354192.3_Missense_Mutation_p.R46H|APP_ENST00000359726.3_Missense_Mutation_p.R102H|APP_ENST00000448388.2_Missense_Mutation_p.R67H|APP_ENST00000439274.2_Missense_Mutation_p.R46H|APP_ENST00000358918.3_Missense_Mutation_p.R102H|APP_ENST00000474136.1_5'UTR|APP_ENST00000348990.5_Missense_Mutation_p.R102H|APP_ENST00000357903.3_Missense_Mutation_p.R102H	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	102	Heparin-binding.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GCACTGCTTGCGGCCCCGCTT	0.582																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(304-306)cGc>cAc		amyloid beta (A4) precursor protein							143.0	116.0	125.0					21																	27462309		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27462309C>T	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.305G>A	21.37:g.27462309C>T	ENSP00000284981:p.Arg102His					APP_ENST00000359726.3_Missense_Mutation_p.R102H|APP_ENST00000439274.2_Missense_Mutation_p.R46H|APP_ENST00000348990.5_Missense_Mutation_p.R102H|APP_ENST00000346798.3_Missense_Mutation_p.R102H|APP_ENST00000474136.1_5'UTR|APP_ENST00000357903.3_Missense_Mutation_p.R102H|APP_ENST00000440126.3_Missense_Mutation_p.R97H|APP_ENST00000448388.2_Missense_Mutation_p.R67H|APP_ENST00000354192.3_Missense_Mutation_p.R46H	p.R102H	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			3	504	-		Breast(209;0.00295)	102			Heparin-binding.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.305G>A	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436785	0.96168	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274	D;D;D;D;D;D;D;D;D	0.96334	-2.02;-3.98;-3.98;-2.04;-1.87;-3.98;-3.98;-2.03;-2.02	5.75	5.75	0.90469	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, heparin-binding (3);	0.055410	0.85682	D	0.000000	D	0.97300	0.9117	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D;P;D	0.89917	1.0;0.997;0.997;0.97;0.997;0.999;0.696;0.997	D;P;P;P;P;D;B;P	0.74674	0.97;0.78;0.78;0.551;0.577;0.984;0.169;0.78	D	0.97920	1.0314	10	0.87932	D	0	-15.6961	18.712	0.91661	0.0:1.0:0.0:0.0	.	102;67;46;97;46;102;102;102	P05067-2;E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;.;A4_HUMAN	H	102;46;102;102;102;102;67;97;46	ENSP00000284981:R102H;ENSP00000346129:R46H;ENSP00000345463:R102H;ENSP00000350578:R102H;ENSP00000351796:R102H;ENSP00000352760:R102H;ENSP00000388538:R67H;ENSP00000387483:R97H;ENSP00000398879:R46H	ENSP00000284981:R102H	R	-	2	0	APP	26384180	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	3.491000	0.53252	2.716000	0.92895	0.650000	0.86243	CGC		0.582	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		4	155	0	0	0	1	0	4	155				
CNGA3	1261	broad.mit.edu	37	2	99013232	99013232	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:99013232T>A	ENST00000272602.2	+	7	1638	c.1599T>A	c.(1597-1599)gaT>gaA	p.D533E	CNGA3_ENST00000393504.1_Missense_Mutation_p.D533E|CNGA3_ENST00000436404.2_Missense_Mutation_p.D515E|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537E			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	533			D -> H (probable disease-associated mutation found in patients with cone-rod dystrophy). {ECO:0000269|PubMed:24903488}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGGCTGATGATGGGGTCACCC	0.562																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(1597-1599)gaT>gaA		cyclic nucleotide gated channel alpha 3							120.0	113.0	115.0					2																	99013232		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013232T>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1599T>A	2.37:g.99013232T>A	ENSP00000272602:p.Asp533Glu					CNGA3_ENST00000436404.2_Missense_Mutation_p.D515E|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537E|CNGA3_ENST00000272602.2_Missense_Mutation_p.D533E	p.D533E	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	2016	+			533					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1599T>A	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.056053	0.55325	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	5.42	-10.8	0.00216	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96568	0.8880	M	0.67569	2.06	0.58432	D	0.999992	P;D;P	0.65815	0.859;0.995;0.951	P;D;P	0.70935	0.781;0.971;0.85	D	0.99942	1.1418	10	0.62326	D	0.03	.	18.5133	0.90925	0.0:0.5933:0.0:0.4067	.	537;515;533	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	E	533;515;533;537	ENSP00000377140:D533E;ENSP00000410070:D515E;ENSP00000272602:D533E;ENSP00000386761:D537E	ENSP00000272602:D533E	D	+	3	2	CNGA3	98379664	0.062000	0.20869	0.012000	0.15200	0.441000	0.31987	-0.730000	0.04915	-2.607000	0.00447	-0.400000	0.06385	GAT		0.562	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		17	237	0	0	0	1	0	17	237				
MYH4	4622	broad.mit.edu	37	17	10359013	10359013	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:10359013T>C	ENST00000255381.2	-	19	2202	c.2092A>G	c.(2092-2094)Agg>Ggg	p.R698G	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	698	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCGTTACACCTCAGCTGATGC	0.488																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2092-2094)Agg>Ggg		myosin, heavy chain 4, skeletal muscle							102.0	86.0	91.0					17																	10359013		2203	4299	6502	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10359013T>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2092A>G	17.37:g.10359013T>C	ENSP00000255381:p.Arg698Gly					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.R698G	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			19	2202	-			698			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.2092A>G	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.825695	0.50739	.	.	ENSG00000141048	ENST00000255381	D	0.88664	-2.41	4.94	-4.85	0.03142	Myosin head, motor domain (2);	0.000000	0.35320	U	0.003299	D	0.94092	0.8106	H	0.99783	4.775	0.49389	D	0.99978	B	0.20261	0.043	B	0.24974	0.057	D	0.85101	0.0957	10	0.87932	D	0	.	19.7246	0.96160	0.0:0.0:0.7231:0.2769	.	698	Q9Y623	MYH4_HUMAN	G	698	ENSP00000255381:R698G	ENSP00000255381:R698G	R	-	1	2	MYH4	10299738	0.000000	0.05858	0.984000	0.44739	0.473000	0.32948	-0.554000	0.06006	-0.702000	0.05056	0.254000	0.18369	AGG		0.488	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		4	135	0	0	0	1	0	4	135				
LRRC56	115399	broad.mit.edu	37	11	550110	550110	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:550110C>A	ENST00000270115.7	+	8	962	c.462C>A	c.(460-462)agC>agA	p.S154R		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	154										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGACCTGAGCCCACTGTGCC	0.677																																						ENST00000270115.7																			0				kidney(1)|lung(4)|skin(1)	6						c.(460-462)agC>agA		leucine rich repeat containing 56							113.0	107.0	109.0					11																	550110		2203	4300	6503	SO:0001583	missense	115399							g.chr11:550110C>A		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.462C>A	11.37:g.550110C>A	ENSP00000270115:p.Ser154Arg						p.S154R	NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	962	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	154					Q8N3Q4	Missense_Mutation	SNP	ENST00000270115.7	37	c.462C>A	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649679	0.67358	.	.	ENSG00000161328	ENST00000270115	T	0.12465	2.68	5.1	5.1	0.69264	.	0.043544	0.85682	D	0.000000	T	0.37812	0.1017	M	0.82323	2.585	0.42758	D	0.99379	D	0.89917	1.0	D	0.97110	1.0	T	0.27640	-1.0068	10	0.87932	D	0	-22.0665	9.6112	0.39663	0.0:0.9035:0.0:0.0965	.	154	Q8IYG6	LRC56_HUMAN	R	154	ENSP00000270115:S154R	ENSP00000270115:S154R	S	+	3	2	LRRC56	540110	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	1.270000	0.33086	2.373000	0.80994	0.491000	0.48974	AGC		0.677	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		13	116	1	0	3.27435e-08	1	3.48391e-08	13	116				
ATRX	546	broad.mit.edu	37	X	76812938	76812938	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:76812938G>A	ENST00000373344.5	-	30	6897	c.6683C>T	c.(6682-6684)aCt>aTt	p.T2228I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.T2190I	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2228	Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CAGCATGGGAGTATCCCTCTT	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6682-6684)aCt>aTt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						108.0	107.0	107.0					X																	76812938		2203	4293	6496	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76812938G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6683C>T	X.37:g.76812938G>A	ENSP00000362441:p.Thr2228Ile					ATRX_ENST00000395603.3_Missense_Mutation_p.T2190I|ATRX_ENST00000480283.1_5'UTR	p.T2228I	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6897	-			2228					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6683C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432118	0.62844	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92965	-3.14;-3.14	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.93488	0.7922	N	0.26092	0.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.957	D	0.93995	0.7270	10	0.51188	T	0.08	-12.2007	18.765	0.91868	0.0:0.0:1.0:0.0	.	2190;2228	P46100-4;P46100	.;ATRX_HUMAN	I	2228;2190	ENSP00000362441:T2228I;ENSP00000378967:T2190I	ENSP00000362441:T2228I	T	-	2	0	ATRX	76699594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.649000	0.83500	2.377000	0.81083	0.594000	0.82650	ACT		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		144	207	0	0	0	1	0	144	207				
ABCB1	5243	broad.mit.edu	37	7	87145840	87145840	+	Silent	SNP	C	C	T	rs138566631	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:87145840C>T	ENST00000265724.3	-	25	3486	c.3069G>A	c.(3067-3069)acG>acA	p.T1023T	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.T959T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1023					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.T1023T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTAGGCCTTCCGTGCTGTAGC	0.388																																						ENST00000265724.3																			1	Substitution - coding silent(1)	p.T1023T(1)	lung(1)	NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3067-3069)acG>acA		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	C		2,4404	4.2+/-10.8	0,2,2201	193.0	168.0	176.0		3069	-11.9	0.0	7	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ABCB1	NM_000927.4		0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308		1023/1281	87145840	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87145840C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3069G>A	7.37:g.87145840C>T						ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.T959T	p.T1023T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			25	3486	-	Esophageal squamous(14;0.00164)		1023					A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	c.3069G>A	CCDS5608.1																																																																																				0.388	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		4	181	0	0	0	1	0	4	181				
SLC25A14	9016	broad.mit.edu	37	X	129480618	129480618	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:129480618G>A	ENST00000218197.5	+	3	497	c.270G>A	c.(268-270)gcG>gcA	p.A90A	SLC25A14_ENST00000361980.5_Silent_p.A87A|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000339231.3_Silent_p.A87A|SLC25A14_ENST00000543953.1_Silent_p.A55A|SLC25A14_ENST00000545805.1_Silent_p.A90A	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	90					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGTTCCATGCGCTGTTTCGCA	0.423													G|||	1	0.000264901	0.0	0.0	3775	,	,		14623	0.0		0.0	False		,,,				2504	0.001					ENST00000543953.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						c.(163-165)gcG>gcA		solute carrier family 25 (mitochondrial carrier, brain), member 14							154.0	140.0	145.0					X																	129480618		2203	4299	6502	SO:0001819	synonymous_variant	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129480618G>A	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.270G>A	X.37:g.129480618G>A						SLC25A14_ENST00000545805.1_Silent_p.A90A|SLC25A14_ENST00000339231.3_Silent_p.A87A|SLC25A14_ENST00000218197.5_Silent_p.A90A|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.A87A	p.A55A			O95258	UCP5_HUMAN			3	214	+			90		E -> A (in dbSNP:rs2143598).			D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Silent	SNP	ENST00000218197.5	37	c.165G>A	CCDS14623.1																																																																																				0.423	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		30	286	0	0	0	1	0	30	286				
OR2AG2	338755	broad.mit.edu	37	11	6789589	6789589	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:6789589G>A	ENST00000338569.2	-	1	697	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTCACGTATATTATAA	0.493																																						ENST00000338569.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(598-600)taC>taT		olfactory receptor, family 2, subfamily AG, member 2							95.0	86.0	89.0					11																	6789589		2201	4296	6497	SO:0001819	synonymous_variant	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789589G>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.600C>T	11.37:g.6789589G>A							p.Y200Y	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	697	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	200						Silent	SNP	ENST00000338569.2	37	c.600C>T	CCDS31413.1																																																																																				0.493	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		7	52	0	0	0	1	0	7	52				
MUC16	94025	broad.mit.edu	37	19	9072192	9072192	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:9072192G>T	ENST00000397910.4	-	3	15457	c.15254C>A	c.(15253-15255)aCa>aAa	p.T5085K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5087	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCAAGCGTGTACGTAATAT	0.433																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(15253-15255)aCa>aAa		mucin 16, cell surface associated							180.0	162.0	168.0					19																	9072192		1920	4133	6053	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072192G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15254C>A	19.37:g.9072192G>T	ENSP00000381008:p.Thr5085Lys						p.T5085K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	15457	-			5087			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15254C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.695	0.312772	0.10789	.	.	ENSG00000181143	ENST00000397910	T	0.23552	1.9	1.78	0.683	0.17998	.	.	.	.	.	T	0.27169	0.0666	L	0.50333	1.59	.	.	.	D	0.62365	0.991	P	0.50136	0.632	T	0.34477	-0.9827	8	0.87932	D	0	.	4.523	0.11968	0.204:0.0:0.796:0.0	.	5085	B5ME49	.	K	5085	ENSP00000381008:T5085K	ENSP00000381008:T5085K	T	-	2	0	MUC16	8933192	0.000000	0.05858	0.000000	0.03702	0.379000	0.30106	-0.448000	0.06820	0.323000	0.23307	0.282000	0.19409	ACA		0.433	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	220	1	0	2.56e-06	1	2.68094e-06	4	220				
TRAF4	9618	broad.mit.edu	37	17	27074931	27074931	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:27074931G>A	ENST00000262395.5	+	3	395	c.266G>A	c.(265-267)gGc>gAc	p.G89D	AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000444415.3_Missense_Mutation_p.G89D|TRAF4_ENST00000262396.6_Missense_Mutation_p.G89D|AC010761.10_ENST00000579468.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	89					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			AGTGAGGAGGGCTGCCGCTGG	0.612																																						ENST00000262395.5																			0				endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(265-267)gGc>gAc		TNF receptor-associated factor 4							75.0	62.0	66.0					17																	27074931		2203	4300	6503	SO:0001583	missense	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27074931G>A	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.266G>A	17.37:g.27074931G>A	ENSP00000262395:p.Gly89Asp					TRAF4_ENST00000444415.3_Missense_Mutation_p.G89D|TRAF4_ENST00000262396.6_Missense_Mutation_p.G89D	p.G89D	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		3	395	+	Lung NSC(42;0.01)		89					O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	ENST00000262395.5	37	c.266G>A	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127621	0.94473	.	.	ENSG00000076604	ENST00000262395;ENST00000454852;ENST00000422344;ENST00000444415;ENST00000262396	D;D;D;T	0.87887	-2.31;-2.31;-2.31;0.98	5.28	5.28	0.74379	TRAF-like (1);Seven In Absentia Homolog-type (1);	0.047796	0.85682	D	0.000000	D	0.93074	0.7795	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93511	0.6853	10	0.87932	D	0	.	16.4562	0.84015	0.0:0.0:1.0:0.0	.	89;89	Q9BUZ4;Q9BUZ4-2	TRAF4_HUMAN;.	D	89;89;96;89;89	ENSP00000262395:G89D;ENSP00000415789:G96D;ENSP00000438154:G89D;ENSP00000262396:G89D	ENSP00000262395:G89D	G	+	2	0	TRAF4	24099058	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.768000	0.74980	2.740000	0.93945	0.555000	0.69702	GGC		0.612	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		28	25	0	0	0	1	0	28	25				
RUNX1	861	broad.mit.edu	37	21	36164874	36164874	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr21:36164874C>T	ENST00000344691.4	-	6	2497	c.920G>A	c.(919-921)cGc>cAc	p.R307H	RUNX1_ENST00000399240.1_Missense_Mutation_p.R243H|RUNX1_ENST00000437180.1_Missense_Mutation_p.R334H|RUNX1_ENST00000325074.5_Missense_Mutation_p.R322H|RUNX1_ENST00000300305.3_Missense_Mutation_p.R334H	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	307	Interaction with KAT6A.|Interaction with KAT6B. {ECO:0000250}.|Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GGGGAACTGGCGCGGGTCGCT	0.687			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	ENST00000344691.4				Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""		"""AML, preB- ALL, T-ALL"""		0				breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						c.(919-921)cGc>cAc		runt-related transcription factor 1							17.0	14.0	15.0					21																	36164874		2191	4275	6466	SO:0001583	missense	861				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36164874C>T	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.920G>A	21.37:g.36164874C>T	ENSP00000340690:p.Arg307His					RUNX1_ENST00000325074.5_Missense_Mutation_p.R322H|RUNX1_ENST00000437180.1_Missense_Mutation_p.R334H|RUNX1_ENST00000300305.3_Missense_Mutation_p.R334H|RUNX1_ENST00000399240.1_Missense_Mutation_p.R243H	p.R307H	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN			6	2497	-			307			Interaction with MYST3.|Interaction with MYST4 (By similarity).|Pro/Ser/Thr-rich.		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000344691.4	37	c.920G>A	CCDS42922.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231131	0.95207	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000431176;ENST00000399245	D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76	5.22	5.22	0.72569	.	0.276491	0.31404	N	0.007704	D	0.95114	0.8417	M	0.79011	2.435	0.80722	D	1	D;D;D	0.76494	0.994;0.983;0.999	P;P;D	0.66979	0.759;0.674;0.948	D	0.95597	0.8659	10	0.87932	D	0	-5.9915	18.3819	0.90453	0.0:1.0:0.0:0.0	.	334;322;307	Q01196-8;Q01196-10;Q01196	.;.;RUNX1_HUMAN	H	307;334;334;322;243;68;310	ENSP00000340690:R307H;ENSP00000300305:R334H;ENSP00000409227:R334H;ENSP00000319459:R322H;ENSP00000382184:R243H	ENSP00000300305:R334H	R	-	2	0	RUNX1	35086744	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.172000	0.65003	2.442000	0.82660	0.563000	0.77884	CGC		0.687	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			14	14	0	0	0	1	0	14	14				
NAT2	10	broad.mit.edu	37	8	18257674	18257674	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:18257674C>T	ENST00000286479.3	+	2	268	c.161C>T	c.(160-162)gCt>gTt	p.A54V	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	54					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	GGCTTAGAGGCTATTTTTGAT	0.473									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000286479.3																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12						c.(160-162)gCt>gTt		N-acetyltransferase 2 (arylamine N-acetyltransferase)							108.0	113.0	111.0					8																	18257674		2203	4300	6503	SO:0001583	missense	10	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18257674C>T	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.161C>T	8.37:g.18257674C>T	ENSP00000286479:p.Ala54Val					NAT2_ENST00000520116.1_Intron	p.A54V	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	2	268	+			54					O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	c.161C>T	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.162207	0.00318	.	.	ENSG00000156006	ENST00000286479	T	0.02197	4.4	2.95	-2.89	0.05665	.	0.971478	0.08517	N	0.934061	T	0.01695	0.0054	L	0.45228	1.405	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.49925	-0.8887	10	0.05620	T	0.96	.	3.4529	0.07505	0.4856:0.2898:0.0:0.2246	.	54	A4Z6T7	.	V	54	ENSP00000286479:A54V	ENSP00000286479:A54V	A	+	2	0	NAT2	18301954	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.088000	0.14979	-0.747000	0.04759	0.436000	0.28706	GCT		0.473	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		87	186	0	0	0	1	0	87	186				
MUC4	4585	broad.mit.edu	37	3	195511945	195511945	+	Missense_Mutation	SNP	G	G	A	rs201304037	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:195511945G>A	ENST00000463781.3	-	2	6965	c.6506C>T	c.(6505-6507)gCa>gTa	p.A2169V	MUC4_ENST00000475231.1_Missense_Mutation_p.A2169V|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A2169V(4)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATGCTGAGGAAGT	0.572																																						ENST00000463781.3																			4	Substitution - Missense(4)	p.A2169V(4)	endometrium(2)|skin(2)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6505-6507)gCa>gTa		mucin 4, cell surface associated							13.0	15.0	14.0					3																	195511945		661	1548	2209	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511945G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6506C>T	3.37:g.195511945G>A	ENSP00000417498:p.Ala2169Val					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2169V|MUC4_ENST00000346145.4_Intron	p.A2169V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6965	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	948					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.6506C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	G	5.257	0.232852	0.09969	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29397	1.57;1.59	.	.	.	.	.	.	.	.	T	0.14570	0.0352	N	0.19112	0.55	0.09310	N	1	B	0.27997	0.197	B	0.23018	0.043	T	0.25537	-1.0129	6	.	.	.	.	.	.	.	.	2169	E7ESK3	.	V	2169	ENSP00000417498:A2169V;ENSP00000420243:A2169V	.	A	-	2	0	MUC4	196996340	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	-1.488000	0.02308	-0.417000	0.07461	0.064000	0.15345	GCA		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	4	0	0	0	1	0	3	4				
RGAG1	57529	broad.mit.edu	37	X	109694101	109694101	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:109694101G>C	ENST00000465301.2	+	3	502	c.256G>C	c.(256-258)Gca>Cca	p.A86P	RGAG1_ENST00000540313.1_Missense_Mutation_p.A86P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	86										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAACTCTGGAGCATTGTCCCC	0.542											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(256-258)Gca>Cca		retrotransposon gag domain containing 1							205.0	190.0	195.0					X																	109694101		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694101G>C	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.256G>C	X.37:g.109694101G>C	ENSP00000419786:p.Ala86Pro		OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1421	RGAG1_ENST00000540313.1_Missense_Mutation_p.A86P	p.A86P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	502	+			86					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.256G>C	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	9.728	1.161563	0.21538	.	.	ENSG00000243978	ENST00000520821;ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.51325	0.71;0.71	4.33	1.57	0.23409	.	0.481431	0.15508	N	0.258666	T	0.43700	0.1259	L	0.27053	0.805	0.09310	N	0.999992	D	0.61080	0.989	P	0.58454	0.839	T	0.20042	-1.0287	9	.	.	.	-6.0017	5.3724	0.16146	0.3878:0.0:0.6122:0.0	.	86	Q8NET4	RGAG1_HUMAN	P	86	ENSP00000419786:A86P;ENSP00000441452:A86P	.	A	+	1	0	RGAG1	109580757	0.065000	0.20965	0.056000	0.19401	0.045000	0.14185	0.645000	0.24782	0.190000	0.20209	-0.192000	0.12808	GCA		0.542	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		28	483	0	0	0	1	0	28	483				
OR4S2	219431	broad.mit.edu	37	11	55419188	55419188	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:55419188C>T	ENST00000312422.2	+	1	809	c.809C>T	c.(808-810)gCt>gTt	p.A270V		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AAGATGGTGGCTGTATTTTAC	0.423																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(808-810)gCt>gTt		olfactory receptor, family 4, subfamily S, member 2							163.0	146.0	152.0					11																	55419188		2181	4033	6214	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419188C>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.809C>T	11.37:g.55419188C>T	ENSP00000310337:p.Ala270Val						p.A270V	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	809	+		all_epithelial(135;0.0748)	270					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.809C>T	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076755	0.55753	.	.	ENSG00000174982	ENST00000312422	T	0.00202	8.56	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.00440	0.0014	M	0.89658	3.05	0.24894	N	0.99214	B	0.28258	0.205	B	0.37650	0.255	T	0.12091	-1.0561	10	0.72032	D	0.01	.	14.1939	0.65656	0.0:0.8492:0.1508:0.0	.	270	Q8NH73	OR4S2_HUMAN	V	270	ENSP00000310337:A270V	ENSP00000310337:A270V	A	+	2	0	OR4S2	55175764	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	1.242000	0.32755	2.508000	0.84585	0.542000	0.68232	GCT		0.423	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		41	165	0	0	0	1	0	41	165				
RNASE3	6037	broad.mit.edu	37	14	21360166	21360166	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr14:21360166A>T	ENST00000304639.3	+	2	379	c.321A>T	c.(319-321)ttA>ttT	p.L107F		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	107					antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	GGGTGCCTTTACTCCACTGTG	0.428																																						ENST00000304639.3																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9						c.(319-321)ttA>ttT		ribonuclease, RNase A family, 3	Pranlukast(DB01411)						97.0	100.0	99.0					14																	21360166		2191	4300	6491	SO:0001583	missense	6037				defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21360166A>T	X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.321A>T	14.37:g.21360166A>T	ENSP00000302324:p.Leu107Phe						p.L107F	NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	379	+	all_cancers(95;0.00453)		107					Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Missense_Mutation	SNP	ENST00000304639.3	37	c.321A>T	CCDS9560.1	.	.	.	.	.	.	.	.	.	.	a	9.182	1.023908	0.19433	.	.	ENSG00000169397	ENST00000304639	T	0.75154	-0.91	2.38	-2.93	0.05598	Ribonuclease A, domain (4);	1.109740	0.07205	N	0.858178	T	0.71953	0.3401	M	0.82323	2.585	0.09310	N	1	B	0.32653	0.379	B	0.34180	0.177	T	0.62803	-0.6777	10	0.66056	D	0.02	.	3.9122	0.09209	0.3833:0.2139:0.4028:0.0	.	107	P12724	ECP_HUMAN	F	107	ENSP00000302324:L107F	ENSP00000302324:L107F	L	+	3	2	RNASE3	20430006	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.248000	0.08854	-0.741000	0.04797	-0.437000	0.05841	TTA		0.428	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935		6	152	0	0	0	1	0	6	152				
TRPC5	7224	broad.mit.edu	37	X	111097327	111097327	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:111097327G>A	ENST00000262839.2	-	4	1826	c.908C>T	c.(907-909)gCt>gTt	p.A303V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	303					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTGGGCTGAGCAACAAACTG	0.488																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(907-909)gCt>gTt		transient receptor potential cation channel, subfamily C, member 5							37.0	28.0	31.0					X																	111097327		2203	4298	6501	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111097327G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.908C>T	X.37:g.111097327G>A	ENSP00000262839:p.Ala303Val						p.A303V	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			4	1826	-			303					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.908C>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432661	0.83776	.	.	ENSG00000072315	ENST00000262839	T	0.73258	-0.73	4.61	4.61	0.57282	.	0.050095	0.85682	D	0.000000	T	0.80919	0.4716	M	0.92555	3.32	0.80722	D	1	P;B	0.38455	0.632;0.403	B;B	0.41946	0.371;0.371	D	0.86266	0.1658	10	0.87932	D	0	-10.5671	16.967	0.86288	0.0:0.0:1.0:0.0	.	304;303	Q59G51;Q9UL62	.;TRPC5_HUMAN	V	303	ENSP00000262839:A303V	ENSP00000262839:A303V	A	-	2	0	TRPC5	110983983	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.601000	0.98297	2.272000	0.75746	0.600000	0.82982	GCT		0.488	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		3	37	0	0	0	1	0	3	37				
MYBPC1	4604	broad.mit.edu	37	12	102056150	102056150	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:102056150A>G	ENST00000550270.1	+	19	1972	c.1972A>G	c.(1972-1974)Agg>Ggg	p.R658G	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R639G|MYBPC1_ENST00000549145.1_Missense_Mutation_p.R671G|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R644G|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R632G|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R646G|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R559G|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R645G|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R658G			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	658	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTTTATTGAGAGGAAGAAGAA	0.363																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(2011-2013)Agg>Ggg		myosin binding protein C, slow type							61.0	61.0	61.0					12																	102056150		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102056150A>G		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1972A>G	12.37:g.102056150A>G	ENSP00000449702:p.Arg658Gly					MYBPC1_ENST00000361466.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R639G|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R645G|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R646G|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R644G|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R559G|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R632G|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R658G	p.R671G			Q00872	MYPC1_HUMAN			20	2111	+			658			Fibronectin type-III 1.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2011A>G	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.586189	0.66105	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.86	4.69	0.59074	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000020	T	0.75162	0.3812	M	0.87758	2.905	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.996;0.999;1.0;0.995;0.996;0.998;0.995	D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.998;0.997;0.997;0.995;0.995;0.998;0.998;0.996	T	0.79626	-0.1725	10	0.87932	D	0	.	13.2993	0.60315	0.8678:0.1322:0.0:0.0	.	639;646;658;658;645;632;658;658;683;683	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	G	632;658;658;658;645;644;683;671;658;683;658;639;646;683;559;658	ENSP00000448175:R632G;ENSP00000400908:R658G;ENSP00000388989:R658G;ENSP00000353822:R658G;ENSP00000376665:R645G;ENSP00000447362:R644G;ENSP00000354845:R683G;ENSP00000447660:R671G;ENSP00000447900:R658G;ENSP00000440034:R658G;ENSP00000446128:R639G;ENSP00000442847:R646G;ENSP00000354849:R683G;ENSP00000447116:R559G;ENSP00000449702:R658G	ENSP00000353822:R658G	R	+	1	2	MYBPC1	100580281	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.703000	0.68340	1.116000	0.41820	0.528000	0.53228	AGG		0.363	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			12	77	0	0	0	1	0	12	77				
NEU3	10825	broad.mit.edu	37	11	74716640	74716640	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:74716640C>G	ENST00000544263.1	+	4	560	c.390C>G	c.(388-390)taC>taG	p.Y130*	NEU3_ENST00000531509.1_Nonsense_Mutation_p.Y163*|NEU3_ENST00000545272.1_Nonsense_Mutation_p.Y54*|NEU3_ENST00000294064.4_Nonsense_Mutation_p.Y163*|NEU3_ENST00000532963.1_Missense_Mutation_p.Q93E|NEU3_ENST00000529024.1_Missense_Mutation_p.Q93E			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	130					carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCTTCATCTACAGTCAGGATG	0.547																																						ENST00000294064.4																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(487-489)taC>taG		sialidase 3 (membrane sialidase)							135.0	136.0	136.0					11																	74716640		2100	4213	6313	SO:0001587	stop_gained	10825							g.chr11:74716640C>G	AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.390C>G	11.37:g.74716640C>G	ENSP00000445591:p.Tyr130*					NEU3_ENST00000531509.1_Nonsense_Mutation_p.Y163*|NEU3_ENST00000529024.1_Missense_Mutation_p.Q93E|NEU3_ENST00000532963.1_Missense_Mutation_p.Q93E|NEU3_ENST00000545272.1_Nonsense_Mutation_p.Y54*|NEU3_ENST00000544263.1_Nonsense_Mutation_p.Y130*	p.Y163*	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN			3	1416	+			163					A8K327|Q9NQE1	Nonsense_Mutation	SNP	ENST00000544263.1	37	c.489C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.04|19.04	3.750014|3.750014	0.69533|0.69533	.|.	.|.	ENSG00000162139|ENSG00000162139	ENST00000529024;ENST00000532963|ENST00000294064;ENST00000531509;ENST00000544263;ENST00000545272	.|.	.|.	.|.	5.14|5.14	0.0488|0.0488	0.14286|0.14286	.|.	.|0.401164	.|0.29093	.|N	.|0.013164	T|.	0.28134|.	0.0694|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20672|.	-1.0268|.	5|.	0.87932|0.02654	D|T	0|1	-2.8652|-2.8652	9.3065|9.3065	0.37878|0.37878	0.0:0.6114:0.0:0.3886|0.0:0.6114:0.0:0.3886	.|.	.|.	.|.	.|.	E|X	93|163;163;130;54	.|.	ENSP00000434474:Q93E|ENSP00000294064:Y163X	Q|Y	+|+	1|3	0|2	NEU3|NEU3	74394288|74394288	0.000000|0.000000	0.05858|0.05858	0.984000|0.984000	0.44739|0.44739	0.948000|0.948000	0.59901|0.59901	-0.163000|-0.163000	0.09997|0.09997	0.083000|0.083000	0.17047|0.17047	-0.794000|-0.794000	0.03295|0.03295	CAG|TAC		0.547	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_006656		63	108	0	0	0	1	0	63	108				
PLEKHG2	64857	broad.mit.edu	37	19	39909586	39909586	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:39909586G>C	ENST00000409794.3	+	11	2056	c.1206G>C	c.(1204-1206)tgG>tgC	p.W402C	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.W402C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.W343C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.W402C|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.W402C	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	402	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGAGGCTGTGGATTCACTGTC	0.617																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1204-1206)tgG>tgC		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							113.0	123.0	120.0					19																	39909586		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39909586G>C	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1206G>C	19.37:g.39909586G>C	ENSP00000386733:p.Trp402Cys					PLEKHG2_ENST00000378550.1_Missense_Mutation_p.W402C|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.W402C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.W343C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.W402C	p.W402C			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		11	1531	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		402			PH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1206G>C	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.37|19.37	3.815539|3.815539	0.70912|0.70912	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797	.|D;D;D;D;D	.|0.99207	.|-5.56;-5.56;-5.56;-5.56;-5.56	4.6|4.6	4.6|4.6	0.57074|0.57074	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.000000	.|0.56097	.|D	.|0.000024	D|D	0.99093|0.99093	0.9688|0.9688	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.994;0.999;1.0	D|D	0.99667|0.99667	1.0995|1.0995	5|10	.|0.87932	.|D	.|0	.|.	16.3372|16.3372	0.83068|0.83068	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|402;402;343;402	.|Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2	.|.;PKHG2_HUMAN;.;.	A|C	299|402;402;402;343;402	.|ENSP00000386733:W402C;ENSP00000392906:W402C;ENSP00000367812:W402C;ENSP00000408857:W343C;ENSP00000386492:W402C	.|ENSP00000367812:W402C	G|W	+|+	2|3	0|0	PLEKHG2|PLEKHG2	44601426|44601426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.101000|9.101000	0.94219|0.94219	2.409000|2.409000	0.81822|0.81822	0.462000|0.462000	0.41574|0.41574	GGA|TGG		0.617	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		32	224	0	0	0	1	0	32	224				
SSX7	280658	broad.mit.edu	37	X	52681398	52681398	+	Splice_Site	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:52681398C>G	ENST00000298181.5	-	4	343		c.e4-1			NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GCCTTGAAGCCTAGAAAGAAG	0.483																																						ENST00000298181.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16						c.e4-1		synovial sarcoma, X breakpoint 7							140.0	121.0	128.0					X																	52681398		2203	4300	6503	SO:0001630	splice_region_variant	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52681398C>G	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.185-1G>C	X.37:g.52681398C>G								NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN			4	343	-	Ovarian(276;0.236)								Splice_Site	SNP	ENST00000298181.5	37		CCDS14343.1	.	.	.	.	.	.	.	.	.	.	.	1.181	-0.638024	0.03557	.	.	ENSG00000187754	ENST00000298181	.	.	.	0.56	0.56	0.17279	.	.	.	.	.	.	.	.	.	.	.	0.21105	N	0.999784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	SSX7	52698123	0.314000	0.24563	0.016000	0.15963	0.016000	0.09150	1.451000	0.35145	0.518000	0.28383	0.174000	0.16983	.		0.483	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358	Intron	21	143	0	0	0	1	0	21	143				
TTLL6	284076	broad.mit.edu	37	17	46846534	46846534	+	Silent	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:46846534G>T	ENST00000393382.3	-	15	2634	c.2493C>A	c.(2491-2493)ctC>ctA	p.L831L	TTLL6_ENST00000433608.2_Silent_p.L524L	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GACTCTGCAAGAGGAGGGAGG	0.572																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(2491-2493)ctC>ctA		tubulin tyrosine ligase-like family, member 6							48.0	45.0	46.0					17																	46846534		2203	4300	6503	SO:0001819	synonymous_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46846534G>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2493C>A	17.37:g.46846534G>T						TTLL6_ENST00000433608.2_Silent_p.L524L	p.L831L	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			15	2634	-			783						Silent	SNP	ENST00000393382.3	37	c.2493C>A	CCDS45724.1																																																																																				0.572	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		8	95	1	0	0.00448238	1	0.00455081	8	95				
TENM1	10178	broad.mit.edu	37	X	123615606	123615606	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:123615606C>G	ENST00000371130.3	-	21	3967	c.3904G>C	c.(3904-3906)Gaa>Caa	p.E1302Q	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000422452.2_Missense_Mutation_p.E1309Q	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1302					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGTGAAGCTTCCGATGCTCTC	0.378																																						ENST00000422452.2																			0											c.(3925-3927)Gaa>Caa		teneurin transmembrane protein 1							77.0	62.0	67.0					X																	123615606		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123615606C>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3904G>C	X.37:g.123615606C>G	ENSP00000360171:p.Glu1302Gln					TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.E1302Q	p.E1309Q	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					22	3988	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3925G>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229941	0.79688	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86030	-2.06;-2.03	5.29	5.29	0.74685	Six-bladed beta-propeller, TolB-like (1);	0.056297	0.64402	D	0.000001	D	0.87815	0.6272	L	0.27053	0.805	0.80722	D	1	D;D;P	0.76494	0.997;0.999;0.866	D;D;P	0.75484	0.986;0.94;0.589	D	0.87810	0.2631	10	0.39692	T	0.17	.	17.9918	0.89171	0.0:1.0:0.0:0.0	.	1308;1309;1302	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Q	1302;1309	ENSP00000360171:E1302Q;ENSP00000403954:E1309Q	ENSP00000360171:E1302Q	E	-	1	0	ODZ1	123443287	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.014000	0.70784	2.183000	0.69458	0.600000	0.82982	GAA		0.378	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		55	61	0	0	0	1	0	55	61				
TRABD2A	129293	broad.mit.edu	37	2	85097395	85097395	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:85097395delT	ENST00000409520.2	-	2	665	c.623delA	c.(622-624)aagfs	p.K208fs	TRABD2A_ENST00000335459.5_Frame_Shift_Del_p.K208fs|TRABD2A_ENST00000409133.1_Frame_Shift_Del_p.K208fs	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	208					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CTCTTCCACCTTTTCCACTGC	0.493																																						ENST00000335459.5																			0											c.(622-624)agfs		TraB domain containing 2A							164.0	169.0	167.0					2																	85097395		2007	4177	6184	SO:0001589	frameshift_variant	129293							g.chr2:85097395delT	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.623delA	2.37:g.85097395delT	ENSP00000387075:p.Lys208fs					TRABD2A_ENST00000409520.2_Frame_Shift_Del_p.K208fs|TRABD2A_ENST00000409133.1_Frame_Shift_Del_p.K208fs	p.K208fs	NM_001080824.1	NP_001074293.1					2	828	-								B4DKK8|I6UMB9	Frame_Shift_Del	DEL	ENST00000409520.2	37	c.623delA																																																																																					0.493	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		7	366						7	366	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179616389	179616392	+	Intron	DEL	ACCT	ACCT	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:179616389_179616392delACCT	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Frame_Shift_Del_p.RL3579fs			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGCTAGTAACCTATAACTTCCA	0.377																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(10735-10740)tafs		titin																																				SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616389_179616392delACCT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1458AGGT>-	2.37:g.179616389_179616392delACCT						TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA	p.RL3579fs	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10957_10960	-			3574			Ig-like 21.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.10735_10738delAGGT																																																																																					0.377	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	312						11	312	---	---	---	---
AC073321.4	0	broad.mit.edu	37	2	217475031	217475032	+	lincRNA	INS	-	-	A	rs71401156|rs59472818	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:217475031_217475032insA	ENST00000441803.1	+	0	195																											AATTTTATTTCAAAAAAAAAAA	0.376																																						ENST00000441803.1																			0																																																			0							g.chr2:217475031_217475032insA																													2.37:g.217475042_217475042dupA														0	195	+									RNA	INS	ENST00000441803.1	37																																																																																						0.376	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			7	18						7	18	---	---	---	---
RP11-556I14.1	0	broad.mit.edu	37	4	105918246	105918247	+	lincRNA	INS	-	-	TT	rs145057012|rs10622810|rs60637656		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:105918246_105918247insTT	ENST00000506386.1	+	0	71																											tttttttttccttttttttttt	0.317																																						ENST00000506386.1																			0																																																			0							g.chr4:105918246_105918247insTT																													4.37:g.105918255_105918256dupTT														0	71	+									RNA	INS	ENST00000506386.1	37																																																																																						0.317	RP11-556I14.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000363584.1			4	3						4	3	---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	524298	524298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr5:524298delA	ENST00000264938.3	-	1	149	c.140delT	c.(139-141)ttcfs	p.F47fs	SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.F47fs|RP11-310P5.2_ENST00000515085.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	47					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCCCACTCGAAGGTGACCAC	0.731																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(139-141)tcfs		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							16.0	17.0	16.0					5																	524298		2177	4262	6439	SO:0001589	frameshift_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:524298delA		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.140delT	5.37:g.524298delA	ENSP00000264938:p.Phe47fs					SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.F47fs	p.F47fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		1	149	-			47					B7ZKR2|E9PF67|Q3MIW3	Frame_Shift_Del	DEL	ENST00000264938.3	37	c.140delT	CCDS3855.1																																																																																				0.731	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		2	4						2	4	---	---	---	---
LOC101928782	101928782	broad.mit.edu	37	7	131628169	131628169	+	lincRNA	DEL	T	T	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:131628169delT	ENST00000415393.1	+	0	1006																											TCCCTAGTCCTTCCAGGGCAT	0.572																																						ENST00000415393.1																			0																																																			0							g.chr7:131628169delT																													7.37:g.131628169delT														0	1006	+									RNA	DEL	ENST00000415393.1	37																																																																																						0.572	AC009518.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000338730.1			2	4						2	4	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:29450110delA	ENST00000536681.3	+	4	768	c.522delA	c.(520-522)ccafs	p.P174fs	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(520-522)ccfs		fatty acyl CoA reductase 2							108.0	116.0	113.0					12																	29450110		2203	4300	6503	SO:0001589	frameshift_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29450110delA	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.522delA	12.37:g.29450110delA	ENSP00000443291:p.Pro174fs					RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs	p.P174fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			4	790	+			174					F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Del	DEL	ENST00000536681.3	37	c.522delA	CCDS8717.1																																																																																				0.388	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		10	265						10	265	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102306788	102306790	+	RNA	DEL	GTA	GTA	-	rs372910444		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:102306788_102306790delGTA	ENST00000561463.1	+	0	13180									DNM1 pseudogene 47																		TTAGTCTGTTGTAGTGGTGAGCT	0.507																																						ENST00000561463.1																			0																																																			0							g.chr15:102306788_102306790delGTA	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102306788_102306790delGTA														0	13180	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.507	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	5						3	5	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16908642	16908642	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:16908642delT	ENST00000552788.1	+	14	3404	c.3404delT	c.(3403-3405)gttfs	p.V1135fs	NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000524140.2_Frame_Shift_Del_p.V1135fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1135							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGACGGCTGTTTTTGGTACT	0.552																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3403-3405)gtfs		NACHT and WD repeat domain containing 1							301.0	275.0	284.0					19																	16908642		2203	4300	6503	SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16908642delT	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3404delT	19.37:g.16908642delT	ENSP00000447224:p.Val1135fs					NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs	p.V1135fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			16	3822	+			1135					C9J021|Q68CT3	Frame_Shift_Del	DEL	ENST00000552788.1	37	c.3404delT																																																																																					0.552	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		7	636						7	636	---	---	---	---
