#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
NRP1	8829	broad.mit.edu	37	10	33491727	33491727	+	Intron	SNP	C	C	A	rs375051418		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:33491727C>A	ENST00000265371.4	-	12	2390				NRP1_ENST00000374823.5_Silent_p.P652P|NRP1_ENST00000395995.1_Intron|NRP1_ENST00000374875.1_Intron|NRP1_ENST00000374821.5_Intron|NRP1_ENST00000374867.2_Intron|NRP1_ENST00000374822.4_Intron			O14786	NRP1_HUMAN	neuropilin 1						angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTCTGCCATGCGGAGTTACAA	0.478																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000374823.5																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1954-1956)ccG>ccT		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)																																			SO:0001627	intron_variant	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33491727C>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1864+91G>T	10.37:g.33491727C>A						NRP1_ENST00000395995.1_Intron|NRP1_ENST00000374821.5_Intron|NRP1_ENST00000466932.1_Intron|NRP1_ENST00000374822.4_Intron|NRP1_ENST00000374867.2_Intron|NRP1_ENST00000265371.4_Intron	p.P652P			O14786	NRP1_HUMAN			11	1955	-			0			MAM.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	ENST00000265371.4	37	c.1956G>T	CCDS7177.1																																																																																				0.478	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			6	39	1	0	0.00116845	1	0.00118188	6	39				
DSG1	1828	broad.mit.edu	37	18	28919899	28919899	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr18:28919899G>A	ENST00000257192.4	+	11	1810	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	533					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TCTGAACCCGGAAACGGAGCC	0.408																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1597-1599)gGa>gAa		desmoglein 1							103.0	103.0	103.0					18																	28919899		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28919899G>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1598G>A	18.37:g.28919899G>A	ENSP00000257192:p.Gly533Glu						p.G533E	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		11	1810	+			533					B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1598G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	3.557	-0.090488	0.07053	.	.	ENSG00000134760	ENST00000257192	T	0.58358	0.34	3.88	-6.99	0.01605	.	35.106000	0.00166	N	0.000000	T	0.33904	0.0879	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42481	-0.9449	10	0.02654	T	1	.	7.3877	0.26893	0.223:0.413:0.364:0.0	.	533	Q02413	DSG1_HUMAN	E	533	ENSP00000257192:G533E	ENSP00000257192:G533E	G	+	2	0	DSG1	27173897	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-2.126000	0.01316	-1.191000	0.02695	-3.887000	0.00017	GGA		0.408	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		13	117	0	0	0	1	0	13	117				
RBM4	5936	broad.mit.edu	37	11	66407505	66407505	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr11:66407505A>G	ENST00000409406.1	+	1	1100	c.323A>G	c.(322-324)gAc>gGc	p.D108G	RBM4_ENST00000578778.1_Missense_Mutation_p.D108G|RBM4_ENST00000398692.4_Missense_Mutation_p.D108G|RBM4_ENST00000532968.1_Missense_Mutation_p.D108G|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000530235.1_Missense_Mutation_p.D108G|RBM4_ENST00000506523.2_Missense_Mutation_p.D108G|RBM4_ENST00000408993.2_Missense_Mutation_p.D108G|RBM4_ENST00000483858.1_Missense_Mutation_p.D108G|RBM4_ENST00000310092.7_Missense_Mutation_p.D108G|RBM4_ENST00000503028.2_Missense_Mutation_p.D108G|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000396053.4_Missense_Mutation_p.D108G			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	108	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		ATCGAATGTGACATCGTGAAA	0.507																																						ENST00000409406.1																			0				endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(322-324)gAc>gGc		RNA binding motif protein 4							146.0	132.0	137.0					11																	66407505		2200	4293	6493	SO:0001583	missense	5936							g.chr11:66407505A>G	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.323A>G	11.37:g.66407505A>G	ENSP00000386894:p.Asp108Gly					RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.D108G|RBM4_ENST00000483858.1_Missense_Mutation_p.D108G|RBM4_ENST00000506523.2_Missense_Mutation_p.D108G|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000408993.2_Missense_Mutation_p.D108G|RBM4_ENST00000578778.1_Missense_Mutation_p.D108G|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.D108G|RBM4_ENST00000532968.1_Missense_Mutation_p.D108G|RBM4_ENST00000398692.4_Missense_Mutation_p.D108G|RBM4_ENST00000396053.4_Missense_Mutation_p.D108G|RBM4_ENST00000530235.1_Missense_Mutation_p.D108G	p.D108G						Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	1	1100	+								B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	ENST00000409406.1	37	c.323A>G	CCDS41676.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378266	0.82682	.	.	ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000503028;ENST00000514361;ENST00000310092;ENST00000396053;ENST00000408993;ENST00000483858;ENST00000398692;ENST00000510173;ENST00000506523;ENST00000530235;ENST00000532968;ENST00000409406	T;T;T;T;T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26	4.95	4.95	0.65309	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.37433	0.1003	.	.	.	0.80722	D	1	D;D;D;D	0.76494	0.993;0.999;0.998;0.991	D;D;D;D	0.80764	0.93;0.973;0.994;0.916	T	0.06698	-1.0812	9	0.30854	T	0.27	-9.5486	12.9479	0.58384	1.0:0.0:0.0:0.0	.	108;108;108;108	E7EQS3;Q9BWF3-3;Q9BWF3;Q9BWF3-2	.;.;RBM4_HUMAN;.	G	108	ENSP00000425760:D108G;ENSP00000309166:D108G;ENSP00000413497:D108G;ENSP00000386561:D108G;ENSP00000435821:D108G;ENSP00000381680:D108G;ENSP00000422301:D108G;ENSP00000423572:D108G;ENSP00000432150:D108G;ENSP00000432020:D108G;ENSP00000386894:D108G	ENSP00000425760:D108G	D	+	2	0	RBM4;RBM14-RBM4	66164081	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.222000	0.78025	2.013000	0.59113	0.529000	0.55759	GAC		0.507	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		5	265	0	0	0	1	0	5	265				
EIF2AK1	27102	broad.mit.edu	37	7	6085709	6085709	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr7:6085709C>T	ENST00000199389.6	-	6	769	c.623G>A	c.(622-624)tGc>tAc	p.C208Y	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Missense_Mutation_p.C84Y|RN7SL851P_ENST00000480512.2_RNA	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TACCTTCATGCAAACTGTTTT	0.259																																						ENST00000199389.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27						c.(622-624)tGc>tAc		eukaryotic translation initiation factor 2-alpha kinase 1							75.0	74.0	74.0					7																	6085709		2200	4297	6497	SO:0001583	missense	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6085709C>T	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.623G>A	7.37:g.6085709C>T	ENSP00000199389:p.Cys208Tyr					EIF2AK1_ENST00000536084.1_Missense_Mutation_p.C84Y|EIF2AK1_ENST00000495565.1_5'UTR	p.C208Y	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	6	769	-		Ovarian(82;0.0423)	208			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	c.623G>A	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.142932	0.77888	.	.	ENSG00000086232	ENST00000199389;ENST00000536084	T;T	0.14144	2.53;2.53	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	N	0.04275	-0.24	0.58432	D	0.999999	B;D;D	0.89917	0.274;1.0;0.998	B;D;D	0.83275	0.355;0.996;0.982	T	0.06716	-1.0811	10	0.02654	T	1	-16.1726	18.1923	0.89810	0.0:1.0:0.0:0.0	.	84;208;208	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	Y	208;84	ENSP00000199389:C208Y;ENSP00000445784:C84Y	ENSP00000199389:C208Y	C	-	2	0	EIF2AK1	6052235	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.926000	0.70070	2.443000	0.82685	0.650000	0.86243	TGC		0.259	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		6	71	0	0	0	1	0	6	71				
CACNA1H	8912	broad.mit.edu	37	16	1248620	1248620	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:1248620C>T	ENST00000348261.5	+	6	897	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R217W|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R217W	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	217					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CACAGGCATGCGGatcctggt	0.637																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(649-651)Cgg>Tgg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						113.0	125.0	121.0					16																	1248620		2160	4268	6428	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1248620C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.649C>T	16.37:g.1248620C>T	ENSP00000334198:p.Arg217Trp					CACNA1H_ENST00000565831.1_Missense_Mutation_p.R217W|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R217W	p.R217W	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			6	897	+		Hepatocellular(780;0.00369)	217					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.649C>T	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409505	0.42715	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98914	-5.23;-5.23	3.62	2.65	0.31530	Ion transport (1);	0.224078	0.36932	N	0.002322	D	0.99360	0.9775	H	0.98178	4.165	0.32139	N	0.585812	D;D	0.89917	0.999;1.0	P;D	0.97110	0.87;1.0	D	0.97549	1.0091	10	0.87932	D	0	.	9.5826	0.39497	0.3776:0.6224:0.0:0.0	.	217;217	O95180-2;O95180	.;CAC1H_HUMAN	W	217	ENSP00000334198:R217W;ENSP00000351401:R217W	ENSP00000334198:R217W	R	+	1	2	CACNA1H	1188621	0.997000	0.39634	0.996000	0.52242	0.525000	0.34531	0.457000	0.21875	0.739000	0.32628	0.538000	0.68166	CGG		0.637	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		5	109	0	0	0	1	0	5	109				
LNPEP	4012	broad.mit.edu	37	5	96322292	96322292	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:96322292A>G	ENST00000231368.5	+	4	1741	c.1049A>G	c.(1048-1050)gAg>gGg	p.E350G	LNPEP_ENST00000395770.3_Missense_Mutation_p.E336G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	350					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAGTTTTCTGAGAGTGTGAAG	0.413																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(1048-1050)gAg>gGg		leucyl/cystinyl aminopeptidase							231.0	217.0	222.0					5																	96322292		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96322292A>G	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1049A>G	5.37:g.96322292A>G	ENSP00000231368:p.Glu350Gly					LNPEP_ENST00000395770.3_Missense_Mutation_p.E336G	p.E350G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	4	1741	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	350					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.1049A>G	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.882792	0.51908	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.02916	4.11;4.11	5.78	5.78	0.91487	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.382752	0.31370	N	0.007769	T	0.07098	0.0180	M	0.80847	2.515	0.30947	N	0.725169	P	0.42993	0.797	P	0.46299	0.511	T	0.07121	-1.0789	10	0.30854	T	0.27	.	6.7689	0.23583	0.6843:0.1333:0.0:0.1825	.	350	Q9UIQ6	LCAP_HUMAN	G	350;336	ENSP00000231368:E350G;ENSP00000379117:E336G	ENSP00000231368:E350G	E	+	2	0	LNPEP	96348048	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	1.827000	0.39102	2.202000	0.70862	0.450000	0.29827	GAG		0.413	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		33	98	0	0	0	1	0	33	98				
PCDHA12	56137	broad.mit.edu	37	5	140256512	140256512	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:140256512G>A	ENST00000398631.2	+	1	1455	c.1455G>A	c.(1453-1455)caG>caA	p.Q485Q	PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	485	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGACGCGCAGAAGAACGCGC	0.667																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1453-1455)caG>caA									81.0	83.0	83.0					5																	140256512		2203	4300	6503	SO:0001819	synonymous_variant	56137							g.chr5:140256512G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1455G>A	5.37:g.140256512G>A						PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron	p.Q485Q	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1455	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1455G>A	CCDS47285.1																																																																																				0.667	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		7	127	0	0	0	1	0	7	127				
SCLY	51540	broad.mit.edu	37	2	238990769	238990769	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:238990769G>A	ENST00000555827.1	+	6	760	c.696G>A	c.(694-696)acG>acA	p.T232T	SCLY_ENST00000254663.6_Silent_p.T240T|SCLY_ENST00000373332.3_Silent_p.T150T|SCLY_ENST00000422984.2_Silent_p.T138T|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000409736.2_Silent_p.T232T			Q96I15	SCLY_HUMAN	selenocysteine lyase	232					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TCGTGCACACGGATGCTGCAC	0.592																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	ENST00000254663.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22						c.(718-720)acG>acA		selenocysteine lyase							98.0	87.0	91.0					2																	238990769		2203	4300	6503	SO:0001819	synonymous_variant	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:238990769G>A	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.696G>A	2.37:g.238990769G>A						SCLY_ENST00000429612.2_Intron|SCLY_ENST00000373332.3_Silent_p.T150T|SCLY_ENST00000555827.1_Silent_p.T232T|SCLY_ENST00000409736.2_Silent_p.T232T|SCLY_ENST00000422984.2_Silent_p.T138T	p.T240T	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	6	862	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	232					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Silent	SNP	ENST00000555827.1	37	c.720G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.774|3.774	-0.046977|-0.046977	0.07407|0.07407	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000437134;ENST00000440143|ENST00000431487	.|.	.|.	.|.	5.48|5.48	-8.68|-8.68	0.00859|0.00859	.|.	.|.	.|.	.|.	.|.	T|T	0.52597|0.52597	0.1744|0.1744	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.62215|0.62215	-0.6901|-0.6901	4|4	.|.	.|.	.|.	-16.8149|-16.8149	12.2|12.2	0.54319|0.54319	0.6151:0.1477:0.2372:0.0|0.6151:0.1477:0.2372:0.0	.|.	.|.	.|.	.|.	R|Q	76;10|78	.|.	.|.	G|R	+|+	1|2	0|0	SCLY|SCLY	238655508|238655508	0.000000|0.000000	0.05858|0.05858	0.037000|0.037000	0.18230|0.18230	0.012000|0.012000	0.07955|0.07955	-4.994000|-4.994000	0.00162|0.00162	-2.111000|-2.111000	0.00836|0.00836	-3.167000|-3.167000	0.00057|0.00057	GGA|CGG		0.592	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		8	155	0	0	0	1	0	8	155				
GALNT6	11226	broad.mit.edu	37	12	51758105	51758105	+	Silent	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:51758105C>A	ENST00000543196.2	-	5	1054	c.849G>T	c.(847-849)ctG>ctT	p.L283L	GALNT6_ENST00000356317.3_Silent_p.L283L			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	283	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGATTCGAGCCAGGAGGGGCT	0.622																																						ENST00000543196.2																			0				endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(847-849)ctG>ctT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)							42.0	42.0	42.0					12																	51758105		2203	4300	6503	SO:0001819	synonymous_variant	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51758105C>A	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.849G>T	12.37:g.51758105C>A						GALNT6_ENST00000356317.3_Silent_p.L283L	p.L283L			Q8NCL4	GALT6_HUMAN			5	1054	-			283			Catalytic subdomain A.		Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	c.849G>T	CCDS8813.1																																																																																				0.622	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		26	17	1	0	2.48779e-11	1	2.66983e-11	26	17				
FAM193A	8603	broad.mit.edu	37	4	2733563	2733563	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:2733563A>T	ENST00000324666.5	+	20	4117	c.3766A>T	c.(3766-3768)Agc>Tgc	p.S1256C	FAM193A_ENST00000505311.1_3'UTR|FAM193A_ENST00000382839.3_Missense_Mutation_p.S1215C|FAM193A_ENST00000502458.1_Missense_Mutation_p.S1237C	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1256										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTCCAATTTTAGCTTGAAAAA	0.527																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(3766-3768)Agc>Tgc		family with sequence similarity 193, member A							125.0	124.0	124.0					4																	2733563		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2733563A>T	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.3766A>T	4.37:g.2733563A>T	ENSP00000324587:p.Ser1256Cys					FAM193A_ENST00000502458.1_Missense_Mutation_p.S1237C|FAM193A_ENST00000505311.1_3'UTR|FAM193A_ENST00000382839.3_Missense_Mutation_p.S1215C	p.S1256C	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			20	4117	+			1256					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.3766A>T	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.503211	0.85176	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000502458	T;T;T	0.47528	0.84;0.84;0.84	5.14	5.14	0.70334	.	0.051516	0.85682	D	0.000000	T	0.58148	0.2102	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	0.984;0.998;0.998;1.0	P;D;D;D	0.87578	0.882;0.919;0.996;0.998	T	0.62369	-0.6869	10	0.87932	D	0	-4.5325	14.1414	0.65322	1.0:0.0:0.0:0.0	.	1237;1256;1237;1215	E9PFA1;P78312;B7ZM85;P78312-2	.;F193A_HUMAN;.;.	C	1215;1256;1237	ENSP00000372290:S1215C;ENSP00000324587:S1256C;ENSP00000427505:S1237C	ENSP00000324587:S1256C	S	+	1	0	FAM193A	2703361	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	8.982000	0.93471	1.950000	0.56595	0.459000	0.35465	AGC		0.527	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		185	213	0	0	0	1	0	185	213				
AC096579.13	0	broad.mit.edu	37	2	89111089	89111089	+	RNA	SNP	G	G	A	rs565899139		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:89111089G>A	ENST00000452230.1	-	0	315				MIR4436A_ENST00000585278.1_RNA																							AGCTGCTTTCGGGGAGAAATA	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19642	0.0		0.001	False		,,,				2504	0.0					ENST00000452230.1																			0																																																			0							g.chr2:89111089G>A																													2.37:g.89111089G>A														0	315	-									RNA	SNP	ENST00000452230.1	37																																																																																						0.468	AC096579.13-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323493.1			15	17	0	0	0	1	0	15	17				
ADAMTSL4	54507	broad.mit.edu	37	1	150529665	150529665	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:150529665G>A	ENST00000369038.2	+	10	2102	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R657H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R634H|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R634H			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	634	Pro-rich. {ECO:0000255}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)	p.R634H(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGGCACCCCGCCCAGCCCGG	0.711																																						ENST00000271643.4																			1	Substitution - Missense(1)	p.R634H(1)	lung(1)	breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(1900-1902)cGc>cAc		ADAMTS-like 4							14.0	18.0	17.0					1																	150529665		2192	4285	6477	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150529665G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1901G>A	1.37:g.150529665G>A	ENSP00000358034:p.Arg634His					ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R634H|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R657H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R634H	p.R634H	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		12	2137	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		634			Pro-rich.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.1901G>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340313	0.60963	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.63096	0.08;-0.02;0.27;-0.02	5.05	5.05	0.67936	.	.	.	.	.	T	0.62816	0.2459	L	0.56769	1.78	0.39474	D	0.967771	D;D;D	0.89917	0.999;0.999;1.0	P;P;D	0.65773	0.902;0.813;0.938	T	0.61574	-0.7035	9	0.30854	T	0.27	.	9.3441	0.38098	0.0946:0.0:0.9054:0.0	.	657;634;634	F8WAD0;Q6UY14;Q6UY14-2	.;ATL4_HUMAN;.	H	634;634;172;657;634	ENSP00000358037:R634H;ENSP00000271643:R634H;ENSP00000358035:R657H;ENSP00000358034:R634H	ENSP00000271643:R634H	R	+	2	0	ADAMTSL4	148796289	0.918000	0.31147	0.942000	0.38095	0.268000	0.26511	2.112000	0.41892	2.630000	0.89119	0.655000	0.94253	CGC		0.711	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		10	45	0	0	0	1	0	10	45				
GRIN2A	2903	broad.mit.edu	37	16	9857217	9857217	+	Missense_Mutation	SNP	G	G	A	rs199696775		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:9857217G>A	ENST00000396573.2	-	14	4493	c.4184C>T	c.(4183-4185)gCg>gTg	p.A1395V	GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1281W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R1124W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1395V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1395V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1281W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1395					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTCATTCACCGCCTGGGATGG	0.537																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(4183-4185)gCg>gTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						122.0	106.0	112.0					16																	9857217		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857217G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4184C>T	16.37:g.9857217G>A	ENSP00000379818:p.Ala1395Val					GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1281W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R1124W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1395V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1281W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1395V	p.A1395V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	4493	-			1395					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.4184C>T	CCDS10539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.32|13.32	2.200760|2.200760	0.38905|0.38905	.|.	.|.	ENSG00000183454|ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575|ENST00000404927;ENST00000535259	T;T;T|T;T	0.11495|0.12361	2.77;2.77;2.77|2.69;2.69	5.91|5.91	4.77|4.77	0.60923|0.60923	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);|.	0.287837|.	0.32769|.	N|.	0.005667|.	T|T	0.10208|0.10208	0.0250|0.0250	L|L	0.31926|0.31926	0.97|0.97	0.21256|0.21256	N|N	0.999743|0.999743	B|P;P	0.13594|0.44281	0.008|0.831;0.74	B|B;B	0.12156|0.36186	0.007|0.219;0.131	T|T	0.16630|0.16630	-1.0396|-1.0396	9|8	.|.	.|.	.|.	.|.	10.847|10.847	0.46748|0.46748	0.0826:0.1466:0.7707:0.0|0.0826:0.1466:0.7707:0.0	.|.	1395|1124;1281	Q12879|F5GZ52;Q17RZ6	NMDE1_HUMAN|.;.	V|W	1395|1281;1124	ENSP00000379818:A1395V;ENSP00000332549:A1395V;ENSP00000379820:A1395V|ENSP00000385872:R1281W;ENSP00000441572:R1124W	.|.	A|R	-|-	2|1	0|2	GRIN2A|GRIN2A	9764718|9764718	1.000000|1.000000	0.71417|0.71417	0.902000|0.902000	0.35471|0.35471	0.930000|0.930000	0.56654|0.56654	5.020000|5.020000	0.64066|0.64066	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.537	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			45	49	0	0	0	1	0	45	49				
EVPLL	645027	broad.mit.edu	37	17	18286168	18286168	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:18286168G>A	ENST00000399134.4	+	6	859	c.501G>A	c.(499-501)ccG>ccA	p.P167P	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	167										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGCCAATACCGAGACCTACTG	0.692																																						ENST00000399134.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(499-501)ccG>ccA		envoplakin-like							30.0	39.0	36.0					17																	18286168		692	1591	2283	SO:0001819	synonymous_variant	645027							g.chr17:18286168G>A		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.501G>A	17.37:g.18286168G>A						RP1-37N7.1_ENST00000579352.1_RNA	p.P167P	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN			6	859	+			167					B4DPD4	Silent	SNP	ENST00000399134.4	37	c.501G>A	CCDS45626.1																																																																																				0.692	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		10	27	0	0	0	1	0	10	27				
CEP192	55125	broad.mit.edu	37	18	13095516	13095516	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr18:13095516C>G	ENST00000325971.8	+	33	6074	c.4481C>G	c.(4480-4482)tCt>tGt	p.S1494C	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.S2090C|CEP192_ENST00000430049.2_Missense_Mutation_p.S1615C			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1494					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGGGAGCTTCTGGGAAACAT	0.433																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6268-6270)tCt>tGt		centrosomal protein 192kDa							90.0	93.0	92.0					18																	13095516		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13095516C>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4481C>G	18.37:g.13095516C>G	ENSP00000317156:p.Ser1494Cys					CEP192_ENST00000325971.8_Missense_Mutation_p.S1494C|CEP192_ENST00000430049.2_Missense_Mutation_p.S1615C|CEP192_ENST00000540847.2_3'UTR	p.S2090C	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			35	6349	+			1685					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6269C>G		.	.	.	.	.	.	.	.	.	.	C	2.890	-0.229813	0.06022	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.34859	1.34;1.34;1.34	5.91	1.86	0.25419	.	1.025870	0.07671	N	0.935416	T	0.25901	0.0631	L	0.28740	0.885	0.09310	N	1	B;B;B;B	0.16166	0.01;0.016;0.002;0.002	B;B;B;B	0.16722	0.01;0.016;0.005;0.005	T	0.28713	-1.0035	10	0.34782	T	0.22	-1.1993	5.9082	0.19012	0.0:0.4506:0.2627:0.2868	.	1615;2090;94;692	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	C	2090;1494;1494;1615;94	ENSP00000427550:S2090C;ENSP00000317156:S1494C;ENSP00000389190:S1615C	ENSP00000317156:S1494C	S	+	2	0	CEP192	13085516	0.003000	0.15002	0.001000	0.08648	0.007000	0.05969	0.274000	0.18680	0.040000	0.15660	0.650000	0.86243	TCT		0.433	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		27	335	0	0	0	1	0	27	335				
TSPAN1	10103	broad.mit.edu	37	1	46649973	46649973	+	Silent	SNP	G	G	A	rs575979837		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:46649973G>A	ENST00000372003.1	+	4	632	c.168G>A	c.(166-168)gtG>gtA	p.V56V	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	56					cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				TTGTCAACGTGGGCTACTTCC	0.567																																						ENST00000372003.1																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8						c.(166-168)gtG>gtA		tetraspanin 1							200.0	154.0	170.0					1																	46649973		2203	4300	6503	SO:0001819	synonymous_variant	10103					integral to membrane|lysosomal membrane		g.chr1:46649973G>A	BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"""Tetraspanins"""	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.168G>A	1.37:g.46649973G>A						TSPAN1_ENST00000498443.1_3'UTR	p.V56V	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN			4	632	+	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)	56					D3DQ14|O60745|Q5VST0	Silent	SNP	ENST00000372003.1	37	c.168G>A	CCDS530.1																																																																																				0.567	TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020135.1	NM_005727		22	62	0	0	0	1	0	22	62				
TPM1	7168	broad.mit.edu	37	15	63351860	63351860	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:63351860C>T	ENST00000403994.3	+	4	553	c.473C>T	c.(472-474)gCc>gTc	p.A158V	TPM1_ENST00000404484.4_Missense_Mutation_p.A122V|TPM1_ENST00000334895.5_Missense_Mutation_p.A122V|TPM1_ENST00000288398.6_Missense_Mutation_p.A158V|TPM1_ENST00000560959.1_Missense_Mutation_p.A122V|TPM1_ENST00000559281.1_Missense_Mutation_p.A122V|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000267996.7_Missense_Mutation_p.A158V|TPM1_ENST00000358278.3_Missense_Mutation_p.A158V|TPM1_ENST00000559556.1_Missense_Mutation_p.A158V|TPM1_ENST00000317516.7_Missense_Mutation_p.A122V|TPM1_ENST00000357980.4_Missense_Mutation_p.A200V|TPM1_ENST00000559397.1_Missense_Mutation_p.A158V	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	158					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						GCTGAAGATGCCGACCGCAAA	0.488																																						ENST00000357980.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(598-600)gCc>gTc		tropomyosin 1 (alpha)							71.0	68.0	69.0					15																	63351860		2203	4300	6503	SO:0001583	missense	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63351860C>T	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.473C>T	15.37:g.63351860C>T	ENSP00000385107:p.Ala158Val					TPM1_ENST00000317516.7_Missense_Mutation_p.A122V|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000358278.3_Missense_Mutation_p.A158V|TPM1_ENST00000403994.3_Missense_Mutation_p.A158V|TPM1_ENST00000334895.5_Missense_Mutation_p.A122V|TPM1_ENST00000404484.4_Missense_Mutation_p.A122V|TPM1_ENST00000559397.1_Missense_Mutation_p.A158V|TPM1_ENST00000559281.1_Missense_Mutation_p.A122V|TPM1_ENST00000559556.1_Missense_Mutation_p.A158V|TPM1_ENST00000267996.7_Missense_Mutation_p.A158V|TPM1_ENST00000560959.1_Missense_Mutation_p.A122V|TPM1_ENST00000288398.6_Missense_Mutation_p.A158V	p.A200V			P09493	TPM1_HUMAN			5	678	+			158					B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Missense_Mutation	SNP	ENST00000403994.3	37	c.599C>T	CCDS45273.1	.	.	.	.	.	.	.	.	.	.	C	35	5.429582	0.96131	.	.	ENSG00000140416	ENST00000288398;ENST00000267996;ENST00000358278;ENST00000403994;ENST00000357980;ENST00000404484;ENST00000334895;ENST00000317516	D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	5.95	5.95	0.96441	.	0.000000	0.51477	D	0.000099	D	0.99426	0.9797	H	0.97491	4.015	0.80722	D	1	D;D;P;D;D;D;D;D;D;D;D;P;D;D	0.89917	0.992;0.993;0.947;0.995;0.975;0.999;0.98;1.0;0.976;0.997;0.995;0.867;0.998;0.98	D;D;P;D;P;D;D;D;D;D;D;P;D;D	0.97110	0.989;0.975;0.885;0.954;0.767;0.98;0.95;1.0;0.974;0.985;0.989;0.702;0.994;0.95	D	0.98485	1.0607	10	0.87932	D	0	-10.2706	19.3813	0.94536	0.0:1.0:0.0:0.0	.	122;122;158;124;122;122;158;200;158;158;158;158;158;158	B7Z722;B7Z596;P09493-6;F5H7S3;D9YZV7;Q1ZYL5;D9YZV4;Q6ZN40;D9YZV8;D9YZV5;Q9Y427;D9YZV3;D9YZV2;P09493	.;.;.;.;.;.;.;.;.;.;.;.;.;TPM1_HUMAN	V	158;158;158;158;200;180;122;124	ENSP00000288398:A158V;ENSP00000267996:A158V;ENSP00000351022:A158V;ENSP00000385107:A158V;ENSP00000350667:A200V;ENSP00000334624:A122V	ENSP00000267996:A158V	A	+	2	0	TPM1	61138913	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GCC		0.488	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004		4	78	0	0	0	1	0	4	78				
ZNF32	7580	broad.mit.edu	37	10	44140203	44140203	+	Silent	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:44140203T>C	ENST00000395797.1	-	3	305	c.117A>G	c.(115-117)acA>acG	p.T39T	ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000485351.1_5'UTR|ZNF32_ENST00000374433.2_Silent_p.T39T|ZNF32-AS3_ENST00000458063.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	39					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)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTGAGGATCCTGTAGCCTCAG	0.423																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(115-117)acA>acG		zinc finger protein 32							75.0	80.0	78.0					10																	44140203		2201	4297	6498	SO:0001819	synonymous_variant	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44140203T>C	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.117A>G	10.37:g.44140203T>C						ZNF32_ENST00000374433.2_Silent_p.T39T|ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA	p.T39T	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	305	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	39					Q92951	Silent	SNP	ENST00000395797.1	37	c.117A>G	CCDS7206.1																																																																																				0.423	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		39	111	0	0	0	1	0	39	111				
EIF4A1	1973	broad.mit.edu	37	17	7479955	7479955	+	Silent	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:7479955C>T	ENST00000293831.8	+	5	475	c.459C>T	c.(457-459)caC>caT	p.H153H	SENP3-EIF4A1_ENST00000579777.1_RNA|CD68_ENST00000380498.6_5'Flank|EIF4A1_ENST00000582746.1_Silent_p.H153H|SNORA67_ENST00000384423.1_RNA|SNORA48_ENST00000386847.1_RNA|CD68_ENST00000250092.6_5'Flank|EIF4A1_ENST00000577269.1_Silent_p.H153H|SNORD10_ENST00000459579.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	153	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AAGCTCCCCACATCATCGTGG	0.552																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(457-459)caC>caT		eukaryotic translation initiation factor 4A1							113.0	99.0	104.0					17																	7479955		2203	4300	6503	SO:0001819	synonymous_variant	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7479955C>T	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.459C>T	17.37:g.7479955C>T						SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Silent_p.H153H|EIF4A1_ENST00000582746.1_Silent_p.H153H	p.H153H	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			5	475	+			153			Helicase ATP-binding.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Silent	SNP	ENST00000293831.8	37	c.459C>T	CCDS11113.1																																																																																				0.552	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		12	130	0	0	0	1	0	12	130				
WWP1	11059	broad.mit.edu	37	8	87470217	87470217	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:87470217A>G	ENST00000517970.1	+	22	2769	c.2462A>G	c.(2461-2463)tAt>tGt	p.Y821C	WWP1_ENST00000341922.2_Missense_Mutation_p.Y691C|WWP1_ENST00000349423.2_Missense_Mutation_p.Y603C|WWP1_ENST00000265428.4_Missense_Mutation_p.Y821C	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	821	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TATCGACATTATACAAGAAAC	0.368																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(2461-2463)tAt>tGt		WW domain containing E3 ubiquitin protein ligase 1							164.0	146.0	152.0					8																	87470217		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87470217A>G	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2462A>G	8.37:g.87470217A>G	ENSP00000427793:p.Tyr821Cys					WWP1_ENST00000349423.2_Missense_Mutation_p.Y603C|WWP1_ENST00000341922.2_Missense_Mutation_p.Y691C|WWP1_ENST00000265428.4_Missense_Mutation_p.Y821C	p.Y821C	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			22	2769	+			821			HECT.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.2462A>G	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.139905	0.77775	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.12	5.12	0.69794	HECT (4);	0.066599	0.64402	D	0.000007	T	0.81527	0.4841	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85335	0.1092	10	0.87932	D	0	.	14.9489	0.71054	1.0:0.0:0.0:0.0	.	821	Q9H0M0	WWP1_HUMAN	C	821;821;691;603	ENSP00000427793:Y821C;ENSP00000265428:Y821C;ENSP00000340564:Y691C;ENSP00000342665:Y603C	ENSP00000265428:Y821C	Y	+	2	0	WWP1	87539333	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	9.218000	0.95166	1.933000	0.56026	0.477000	0.44152	TAT		0.368	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		30	102	0	0	0	1	0	30	102				
SPATA31E1	286234	broad.mit.edu	37	9	90500168	90500168	+	Missense_Mutation	SNP	C	C	G	rs145620478		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr9:90500168C>G	ENST00000325643.5	+	4	832	c.766C>G	c.(766-768)Cca>Gca	p.P256A		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	256	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGCCTCCTCTCCACCTCCACC	0.632																																						ENST00000325643.5																			0											c.(766-768)Cca>Gca		SPATA31 subfamily E, member 1							70.0	75.0	73.0					9																	90500168		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90500168C>G	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.766C>G	9.37:g.90500168C>G	ENSP00000322640:p.Pro256Ala						p.P256A	NM_178828.4	NP_849150.3					4	832	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.766C>G	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.918479	0.00498	.	.	ENSG00000177992	ENST00000325643	T	0.04234	3.67	1.15	0.156	0.14910	.	.	.	.	.	T	0.04407	0.0121	L	0.46157	1.445	0.09310	N	1	P	0.40211	0.707	B	0.41723	0.365	T	0.33879	-0.9851	9	0.11182	T	0.66	.	3.2243	0.06726	0.0:0.6825:0.0:0.3175	.	256	Q6ZUB1	CI079_HUMAN	A	256	ENSP00000322640:P256A	ENSP00000322640:P256A	P	+	1	0	C9orf79	89689988	0.001000	0.12720	0.001000	0.08648	0.071000	0.16799	0.087000	0.14958	0.033000	0.15463	0.305000	0.20034	CCA		0.632	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		23	54	0	0	0	1	0	23	54				
CFH	3075	broad.mit.edu	37	1	196706756	196706756	+	Silent	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:196706756C>T	ENST00000367429.4	+	17	2988	c.2748C>T	c.(2746-2748)taC>taT	p.Y916Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	916	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAACATGCTACATGGGAAAAT	0.358																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(2746-2748)taC>taT		complement factor H							89.0	82.0	85.0					1																	196706756		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196706756C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2748C>T	1.37:g.196706756C>T							p.Y916Y	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			17	2988	+			916			Sushi 15.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.2748C>T	CCDS1385.1																																																																																				0.358	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		11	105	0	0	0	1	0	11	105				
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527																																						ENST00000285039.7																			5	Substitution - Missense(5)	p.V1703A(5)	endometrium(2)|kidney(2)|lung(1)	NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(5107-5109)gTc>gCc		myosin VB							70.0	68.0	69.0					18																	47363917		2027	4186	6213	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47363917A>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5108T>C	18.37:g.47363917A>G	ENSP00000285039:p.Val1703Ala					SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A	p.V1703A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	37	5407	-			1703			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.5108T>C	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542024	0.45280	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.86432	-2.12;2.51	4.77	0.996	0.19844	Dilute (1);Dil domain (1);	0.146358	0.45126	N	0.000396	T	0.78534	0.4298	L	0.40543	1.245	0.36910	D	0.890859	B;B	0.13145	0.001;0.007	B;B	0.21708	0.012;0.036	T	0.66284	-0.5962	10	0.19147	T	0.46	.	8.6034	0.33758	0.7815:0.0:0.2185:0.0	.	1703;818	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	A	1703;818	ENSP00000285039:V1703A;ENSP00000315531:V818A	ENSP00000285039:V1703A	V	-	2	0	MYO5B	45617915	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.310000	0.59141	0.082000	0.17018	0.482000	0.46254	GTC		0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			3	50	0	0	0	1	0	3	50				
SCN7A	6332	broad.mit.edu	37	2	167273361	167273361	+	Silent	SNP	T	T	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:167273361T>A	ENST00000409855.1	-	20	3396	c.3270A>T	c.(3268-3270)ccA>ccT	p.P1090P		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1090					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CTCCACTTGTTGGGTCAATGC	0.398																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(3268-3270)ccA>ccT		sodium channel, voltage-gated, type VII, alpha subunit							105.0	93.0	97.0					2																	167273361		1881	4111	5992	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167273361T>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.3270A>T	2.37:g.167273361T>A							p.P1090P	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			20	3396	-			1090						Silent	SNP	ENST00000409855.1	37	c.3270A>T	CCDS46442.1																																																																																				0.398	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			7	54	0	0	0	1	0	7	54				
PYGO1	26108	broad.mit.edu	37	15	55838490	55838490	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:55838490G>A	ENST00000302000.6	-	3	1085	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	PYGO1_ENST00000563719.1_Missense_Mutation_p.R331C	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	331					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TGGCCATGACGGTTTGGGTGA	0.478																																						ENST00000302000.6																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(991-993)Cgt>Tgt		pygopus family PHD finger 1							272.0	255.0	261.0					15																	55838490		2193	4292	6485	SO:0001583	missense	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55838490G>A	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.991C>T	15.37:g.55838490G>A	ENSP00000302327:p.Arg331Cys					PYGO1_ENST00000563719.1_Missense_Mutation_p.R331C	p.R331C	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	1085	-			331					A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	c.991C>T	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808567	0.70797	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.48836	0.8	5.24	5.24	0.73138	Zinc finger, FYVE/PHD-type (1);	0.079160	0.53938	D	0.000050	T	0.46852	0.1414	N	0.24115	0.695	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.50754	0.649;0.649	T	0.51252	-0.8729	10	0.66056	D	0.02	-12.5521	18.1934	0.89813	0.0:0.0:1.0:0.0	.	331;331	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	C	331	ENSP00000302327:R331C	ENSP00000302327:R331C	R	-	1	0	PYGO1	53625782	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.835000	0.62781	2.605000	0.88082	0.591000	0.81541	CGT		0.478	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		69	192	0	0	0	1	0	69	192				
ABHD1	84696	broad.mit.edu	37	2	27353219	27353219	+	Missense_Mutation	SNP	T	T	G	rs369695538		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:27353219T>G	ENST00000316470.4	+	8	1055	c.941T>G	c.(940-942)aTa>aGa	p.I314R	PREB_ENST00000416802.1_5'Flank	NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	314						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAACCAAGATAGATGCCATC	0.522																																						ENST00000316470.4																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(940-942)aTa>aGa		abhydrolase domain containing 1							183.0	175.0	178.0					2																	27353219		2203	4300	6503	SO:0001583	missense	84696					integral to membrane	carboxylesterase activity	g.chr2:27353219T>G	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.941T>G	2.37:g.27353219T>G	ENSP00000326491:p.Ile314Arg						p.I314R	NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN			8	1055	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		314					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Missense_Mutation	SNP	ENST00000316470.4	37	c.941T>G	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	T	2.670	-0.277710	0.05679	.	.	ENSG00000143994	ENST00000316470	T	0.72394	-0.65	5.65	2.01	0.26516	Uncharacterised protein family UPF0017, hydrolase-like, conserved site (1);	0.269303	0.31031	N	0.008396	T	0.74160	0.3680	M	0.70275	2.135	0.29685	N	0.841362	B	0.33171	0.4	P	0.46208	0.507	T	0.72418	-0.4300	10	0.87932	D	0	-0.0379	7.8871	0.29656	0.0:0.2456:0.0:0.7544	.	314	Q96SE0	ABHD1_HUMAN	R	314	ENSP00000326491:I314R	ENSP00000326491:I314R	I	+	2	0	ABHD1	27206723	0.999000	0.42202	0.499000	0.27577	0.059000	0.15707	2.909000	0.48758	0.418000	0.25898	0.459000	0.35465	ATA		0.522	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		72	176	0	0	0	1	0	72	176				
CSMD3	114788	broad.mit.edu	37	8	113484897	113484897	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:113484897A>T	ENST00000297405.5	-	32	5562	c.5318T>A	c.(5317-5319)gTt>gAt	p.V1773D	CSMD3_ENST00000455883.2_Missense_Mutation_p.V1669D|CSMD3_ENST00000343508.3_Missense_Mutation_p.V1733D|CSMD3_ENST00000352409.3_Missense_Mutation_p.V1773D|AC024996.1_ENST00000582664.1_RNA	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1773	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTGATAGAACAGTGCCTTC	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(5317-5319)gTt>gAt		CUB and Sushi multiple domains 3							109.0	103.0	105.0					8																	113484897		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113484897A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5318T>A	8.37:g.113484897A>T	ENSP00000297405:p.Val1773Asp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.V1669D|CSMD3_ENST00000343508.3_Missense_Mutation_p.V1733D|CSMD3_ENST00000352409.3_Missense_Mutation_p.V1773D	p.V1773D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			32	5562	-			1773			CUB 10.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5318T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.082501	0.76528	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.61040	0.14;0.14;1.48;0.14;1.93	5.07	5.07	0.68467	CUB (5);	0.000000	0.64402	D	0.000003	T	0.80380	0.4612	M	0.93808	3.46	0.58432	D	0.999992	D;D;P	0.67145	0.996;0.992;0.864	P;D;P	0.64410	0.908;0.925;0.572	D	0.85323	0.1085	10	0.56958	D	0.05	.	14.6591	0.68855	1.0:0.0:0.0:0.0	.	1669;1773;1733	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	1733;1773;1113;1669;1773	ENSP00000345799:V1733D;ENSP00000297405:V1773D;ENSP00000341558:V1113D;ENSP00000412263:V1669D;ENSP00000343124:V1773D	ENSP00000297405:V1773D	V	-	2	0	CSMD3	113554073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.722000	0.91452	2.125000	0.65367	0.482000	0.46254	GTT		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		99	131	0	0	0	1	0	99	131				
GOLGA5	9950	broad.mit.edu	37	14	93263802	93263802	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:93263802T>C	ENST00000163416.2	+	2	276	c.20T>C	c.(19-21)cTt>cCt	p.L7P	GOLGA5_ENST00000355976.2_Missense_Mutation_p.L7P	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	7					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTTGTTGATCTTGCTGGAAAG	0.408			T	RET	papillary thyroid																																	ENST00000163416.2				Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		0				large_intestine(6)|lung(1)|ovary(2)	9						c.(19-21)cTt>cCt		golgin A5							69.0	63.0	65.0					14																	93263802		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93263802T>C	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.20T>C	14.37:g.93263802T>C	ENSP00000163416:p.Leu7Pro					GOLGA5_ENST00000355976.2_Missense_Mutation_p.L7P	p.L7P	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	2	276	+		all_cancers(154;0.0934)	7					C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.20T>C	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129381	0.77549	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.61274	0.12;0.12	5.31	5.31	0.75309	.	0.000000	0.43416	D	0.000564	T	0.74635	0.3742	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.77925	-0.2405	10	0.72032	D	0.01	-13.5622	15.5597	0.76234	0.0:0.0:0.0:1.0	.	7	Q8TBA6	GOGA5_HUMAN	P	7	ENSP00000163416:L7P;ENSP00000348252:L7P	ENSP00000163416:L7P	L	+	2	0	GOLGA5	92333555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.954000	0.76001	2.127000	0.65507	0.533000	0.62120	CTT		0.408	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			21	117	0	0	0	1	0	21	117				
DNM1P46	196968	broad.mit.edu	37	15	100339997	100339997	+	RNA	SNP	G	G	C	rs201407168		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:100339997G>C	ENST00000341853.1	-	0	929					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GTGTCTTCTCGTTCCCACGCG	0.612																																						ENST00000341853.1																			0																				35.0	30.0	32.0					15																	100339997		874	1991	2865			196968							g.chr15:100339997G>C	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100339997G>C								NR_003260.1						0	929	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.612	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		4	55	0	0	0	1	0	4	55				
SDPR	8436	broad.mit.edu	37	2	192701389	192701389	+	Missense_Mutation	SNP	C	C	T	rs541763962		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:192701389C>T	ENST00000304141.4	-	2	867	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TTCCCTTCCACGGCACCGGAA	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		17686	0.0		0.0	False		,,,				2504	0.001					ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(538-540)Gtg>Atg		serum deprivation response	Phosphatidylserine(DB00144)						46.0	52.0	50.0					2																	192701389		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701389C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.538G>A	2.37:g.192701389C>T	ENSP00000305675:p.Val180Met						p.V180M	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	867	-			180						Missense_Mutation	SNP	ENST00000304141.4	37	c.538G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	7.570	0.666498	0.14710	.	.	ENSG00000168497	ENST00000304141	T	0.58940	0.3	5.16	2.17	0.27698	.	1.296940	0.05051	N	0.478141	T	0.36580	0.0972	N	0.22421	0.69	0.09310	N	1	P	0.50443	0.935	B	0.34722	0.188	T	0.32561	-0.9902	10	0.38643	T	0.18	-1.6561	3.8896	0.09113	0.0:0.341:0.4043:0.2547	.	180	O95810	SDPR_HUMAN	M	180	ENSP00000305675:V180M	ENSP00000305675:V180M	V	-	1	0	SDPR	192409634	0.000000	0.05858	0.001000	0.08648	0.156000	0.22039	0.244000	0.18124	0.759000	0.33084	0.563000	0.77884	GTG		0.498	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		4	81	0	0	0	1	0	4	81				
CLPTM1	1209	broad.mit.edu	37	19	45494630	45494630	+	Splice_Site	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:45494630C>T	ENST00000337392.5	+	12	1704	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	CLPTM1_ENST00000541297.2_Splice_Site_p.F504F|CLPTM1_ENST00000546079.1_Splice_Site_p.F416F	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	518					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TGCTGACCTTCGGTGAGCGGT	0.642																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.e12+1		cleft lip and palate associated transmembrane protein 1							132.0	116.0	122.0					19																	45494630		2203	4300	6503	SO:0001630	splice_region_variant	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45494630C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1555+1C>T	19.37:g.45494630C>T						CLPTM1_ENST00000546079.1_Splice_Site_p.F416_splice|CLPTM1_ENST00000337392.5_Splice_Site_p.F518_splice	p.F504_splice			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	12	1977	+		all_neural(266;0.224)|Ovarian(192;0.231)	518					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Splice_Site	SNP	ENST00000337392.5	37	c.1513_splice	CCDS12651.1																																																																																				0.642	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294	Silent	96	38	0	0	0	1	0	96	38				
AKNAD1	254268	broad.mit.edu	37	1	109377664	109377664	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:109377664G>T	ENST00000370001.3	-	8	1819	c.1551C>A	c.(1549-1551)caC>caA	p.H517Q	AKNAD1_ENST00000369995.3_Missense_Mutation_p.H517Q|AKNAD1_ENST00000369994.1_Intron|AKNAD1_ENST00000357393.4_Missense_Mutation_p.H224Q	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	517						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GGTGGCCGGGGTGCTCCTTGG	0.607																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1549-1551)caC>caA		AKNA domain containing 1							28.0	32.0	31.0					1																	109377664		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109377664G>T	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1551C>A	1.37:g.109377664G>T	ENSP00000359018:p.His517Gln					AKNAD1_ENST00000369994.1_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.H517Q|AKNAD1_ENST00000357393.4_Missense_Mutation_p.H224Q	p.H517Q	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			8	1819	-			517					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1551C>A	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	8.111	0.778841	0.16120	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369995	T;T;T	0.14144	3.26;2.53;3.25	3.21	0.211	0.15236	.	1.557620	0.04581	N	0.394913	T	0.02533	0.0077	L	0.47716	1.5	0.09310	N	1	B;B	0.26744	0.158;0.158	B;B	0.17098	0.017;0.01	T	0.36040	-0.9764	10	0.07813	T	0.8	3.3721	3.3981	0.07313	0.2542:0.2186:0.5272:0.0	.	224;517	B4DET8;Q5T1N1	.;AKND1_HUMAN	Q	517;224;517	ENSP00000359018:H517Q;ENSP00000349968:H224Q;ENSP00000359012:H517Q	ENSP00000349968:H224Q	H	-	3	2	AKNAD1	109179187	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.381000	0.07417	0.045000	0.15804	-0.305000	0.09177	CAC		0.607	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		28	23	1	0	2.65835e-16	1	2.90602e-16	28	23				
TRIM42	287015	broad.mit.edu	37	3	140401991	140401991	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:140401991G>A	ENST00000286349.3	+	2	1220	c.1029G>A	c.(1027-1029)aaG>aaA	p.K343K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	343						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCATCGCCAAGTTCAAAGCAG	0.542																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1027-1029)aaG>aaA		tripartite motif containing 42							107.0	102.0	104.0					3																	140401991		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140401991G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1029G>A	3.37:g.140401991G>A							p.K343K	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			2	1220	+			343					A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.1029G>A	CCDS3113.1																																																																																				0.542	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		17	46	0	0	0	1	0	17	46				
DMRTB1	63948	broad.mit.edu	37	1	53927258	53927258	+	Silent	SNP	C	C	T	rs544350331	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:53927258C>T	ENST00000371445.3	+	2	745	c.690C>T	c.(688-690)ggC>ggT	p.G230G	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	230	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCCCTCCTGGCGTCCCCCTGC	0.672																																						ENST00000371445.3																			0				large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						c.(688-690)ggC>ggT		DMRT-like family B with proline-rich C-terminal, 1							61.0	56.0	57.0					1																	53927258		2203	4300	6503	SO:0001819	synonymous_variant	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53927258C>T	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.690C>T	1.37:g.53927258C>T						DMRTB1_ENST00000463126.1_3'UTR	p.G230G	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN			2	745	+			230			Pro-rich.		Q96SD2	Silent	SNP	ENST00000371445.3	37	c.690C>T	CCDS581.1																																																																																				0.672	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			22	50	0	0	0	1	0	22	50				
UBTF	7343	broad.mit.edu	37	17	42286824	42286824	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:42286824C>T	ENST00000302904.4	-	17	2293	c.1801G>A	c.(1801-1803)Ggc>Agc	p.G601S	UBTF_ENST00000533177.1_Missense_Mutation_p.G564S|UBTF_ENST00000529383.1_Missense_Mutation_p.G601S|UBTF_ENST00000527034.1_Missense_Mutation_p.G564S|UBTF_ENST00000436088.1_Missense_Mutation_p.G601S|UBTF_ENST00000393606.3_Missense_Mutation_p.G564S|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.G564S|UBTF_ENST00000343638.5_Missense_Mutation_p.G564S			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	601					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAGCGACTGCCGATCTCCACC	0.597																																						ENST00000302904.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1801-1803)Ggc>Agc		upstream binding transcription factor, RNA polymerase I							67.0	58.0	61.0					17																	42286824		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42286824C>T	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1801G>A	17.37:g.42286824C>T	ENSP00000302640:p.Gly601Ser					UBTF_ENST00000529383.1_Missense_Mutation_p.G601S|UBTF_ENST00000343638.5_Missense_Mutation_p.G564S|UBTF_ENST00000533177.1_Missense_Mutation_p.G564S|UBTF_ENST00000526094.1_Missense_Mutation_p.G564S|UBTF_ENST00000436088.1_Missense_Mutation_p.G601S|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000393606.3_Missense_Mutation_p.G564S|UBTF_ENST00000527034.1_Missense_Mutation_p.G564S	p.G601S			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	17	2293	-		Breast(137;0.00765)|Prostate(33;0.0181)	601					A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.1801G>A	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785334	0.49997	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000529373	T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.16	4.16	0.48862	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	L	0.28694	0.88	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.972;1.0	T	0.43228	-0.9404	10	0.17369	T	0.5	-21.1328	15.4026	0.74852	0.0:0.8608:0.1391:0.0	.	564;564;601	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	S	564;601;564;564;601;564;564;601;188	ENSP00000345297:G564S;ENSP00000302640:G601S;ENSP00000431539:G564S;ENSP00000437180:G564S;ENSP00000390669:G601S;ENSP00000377231:G564S;ENSP00000432925:G564S;ENSP00000435708:G601S;ENSP00000431295:G188S	ENSP00000302640:G601S	G	-	1	0	UBTF	39642350	1.000000	0.71417	0.971000	0.41717	0.321000	0.28281	5.873000	0.69644	2.409000	0.81822	0.462000	0.41574	GGC		0.597	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		16	67	0	0	0	1	0	16	67				
NEDD8	4738	broad.mit.edu	37	14	24687636	24687636	+	Splice_Site	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:24687636G>A	ENST00000250495.5	-	2	206	c.20C>T	c.(19-21)aCg>aTg	p.T7M	NEDD8-MDP1_ENST00000604306.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000534348.1_Splice_Site_p.T7M|NEDD8_ENST00000524927.1_Splice_Site_p.T7M|MDP1_ENST00000288087.7_5'Flank|MDP1_ENST00000532557.1_5'Flank|MDP1_ENST00000396833.2_5'Flank	NM_006156.2	NP_006147.1	Q15843	NEDD8_HUMAN	neural precursor cell expressed, developmentally down-regulated 8	7					anatomical structure morphogenesis (GO:0009653)|cellular protein modification process (GO:0006464)|protein localization (GO:0008104)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to organic cyclic compound (GO:0014070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		TCCGGTCAGCGTCTGAAACAG	0.428																																						ENST00000250495.5																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.e2-1		neural precursor cell expressed, developmentally down-regulated 8							218.0	183.0	195.0					14																	24687636		2203	4300	6503	SO:0001630	splice_region_variant	4738							g.chr14:24687636G>A	D23662	CCDS9621.1	14q11.2	2008-08-13			ENSG00000129559	ENSG00000129559			7732	protein-coding gene	gene with protein product		603171				9353319	Standard	NM_006156		Approved	Nedd-8		Q15843	OTTHUMG00000029325	ENST00000250495.5:c.19-1C>T	14.37:g.24687636G>A						NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8_ENST00000524927.1_Splice_Site_p.T7_splice|NEDD8-MDP1_ENST00000534348.1_Splice_Site_p.T7_splice	p.T7_splice	NM_006156.2	NP_006147.1				GBM - Glioblastoma multiforme(265;0.0186)	2	206	-								Q3SXN8|Q6LES6	Splice_Site	SNP	ENST00000250495.5	37	c.18_splice	CCDS9621.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920594	0.92249	.	.	ENSG00000255526;ENSG00000129559;ENSG00000129559	ENST00000534348;ENST00000250495;ENST00000524927	T;T;T	0.76709	-1.04;-1.04;-1.04	5.14	5.14	0.70334	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.90290	0.6963	M	0.89658	3.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92027	0.5630	10	0.87932	D	0	-13.3266	17.5341	0.87824	0.0:0.0:1.0:0.0	.	7	Q15843	NEDD8_HUMAN	M	7	ENSP00000431482:T7M;ENSP00000250495:T7M;ENSP00000448192:T7M	ENSP00000250495:T7M	T	-	2	0	NEDD8-MDP1;NEDD8	23757476	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.985000	0.88162	2.670000	0.90874	0.650000	0.86243	ACG		0.428	NEDD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073146.2	NM_006156	Missense_Mutation	8	43	0	0	0	1	0	8	43				
ZNF737	100129842	broad.mit.edu	37	19	20728276	20728276	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:20728276T>A	ENST00000427401.4	-	4	827	c.733A>T	c.(733-735)Act>Tct	p.T245S		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTATGTGCAGTAAGGTATGAA	0.408																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(733-735)Act>Tct		zinc finger protein 737							38.0	38.0	38.0					19																	20728276		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728276T>A	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.733A>T	19.37:g.20728276T>A	ENSP00000395733:p.Thr245Ser						p.T245S	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	827	-			245					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.733A>T	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	5.983	0.365252	0.11352	.	.	ENSG00000237440	ENST00000427401	T	0.35605	1.3	0.801	-1.6	0.08426	.	.	.	.	.	T	0.16727	0.0402	N	0.11000	0.08	0.09310	N	1	B	0.16802	0.019	B	0.20384	0.029	T	0.23833	-1.0177	9	0.40728	T	0.16	.	4.4684	0.11700	0.0:0.0:0.6178:0.3822	.	245	C9JHM3	.	S	245	ENSP00000395733:T245S	ENSP00000395733:T245S	T	-	1	0	ZNF737	20520116	0.000000	0.05858	0.029000	0.17559	0.029000	0.11900	-0.047000	0.11963	0.147000	0.19030	0.145000	0.16022	ACT		0.408	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		32	77	0	0	0	1	0	32	77				
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	323	EamA 2.					integral component of membrane (GO:0016021)		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547																																						ENST00000297307.5																			1	Substitution - coding silent(1)	p.I323I(1)	lung(1)								c.(967-969)atT>atC		solute carrier family 35, member G3																																				SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520358A>G	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.969T>C	17.37:g.33520358A>G							p.I323I	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1054	-			323			DUF6 2.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.969T>C	CCDS11293.1																																																																																				0.547	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		5	116	0	0	0	1	0	5	116				
MAP4K4	9448	broad.mit.edu	37	2	102445969	102445969	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:102445969C>G	ENST00000347699.4	+	6	421	c.421C>G	c.(421-423)Ctg>Gtg	p.L141V	MAP4K4_ENST00000413150.2_Missense_Mutation_p.L141V|MAP4K4_ENST00000324219.4_Missense_Mutation_p.L141V|MAP4K4_ENST00000425019.1_Missense_Mutation_p.L141V|MAP4K4_ENST00000302217.5_Missense_Mutation_p.L141V|MAP4K4_ENST00000456652.1_Missense_Mutation_p.L141V|MAP4K4_ENST00000350878.4_Missense_Mutation_p.L121V|MAP4K4_ENST00000350198.4_Missense_Mutation_p.L141V	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TATTCAGGGACTGGCACATCT	0.413																																						ENST00000413150.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(421-423)Ctg>Gtg		mitogen-activated protein kinase kinase kinase kinase 4							102.0	98.0	99.0					2																	102445969		1977	4160	6137	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102445969C>G	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.421C>G	2.37:g.102445969C>G	ENSP00000314363:p.Leu141Val					MAP4K4_ENST00000456652.1_Missense_Mutation_p.L141V|MAP4K4_ENST00000425019.1_Missense_Mutation_p.L141V|MAP4K4_ENST00000324219.4_Missense_Mutation_p.L141V|MAP4K4_ENST00000302217.5_Missense_Mutation_p.L141V|MAP4K4_ENST00000347699.4_Missense_Mutation_p.L141V|MAP4K4_ENST00000350878.4_Missense_Mutation_p.L121V|MAP4K4_ENST00000350198.4_Missense_Mutation_p.L141V	p.L141V	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN			6	476	+			141			Protein kinase.		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.421C>G	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469608	0.43839	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T;T;T	0.70631	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;-0.5	6.06	2.92	0.33932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.77651	0.4162	L	0.56396	1.775	0.45097	D	0.998119	D;D;D;P;D;P;D;D;P;P	0.67145	0.996;0.993;0.996;0.869;0.977;0.935;0.973;0.977;0.919;0.919	D;D;D;P;P;D;D;P;D;D	0.77004	0.989;0.958;0.958;0.838;0.87;0.954;0.968;0.817;0.922;0.922	T	0.76713	-0.2858	10	0.72032	D	0.01	.	7.2733	0.26268	0.0:0.5221:0.0:0.4779	.	121;141;121;141;141;141;141;141;141;141	B7Z388;B7Z3V5;E7ESS2;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	V	141;141;141;141;141;141;141;103;121	ENSP00000392830:L141V;ENSP00000313644:L141V;ENSP00000281111:L141V;ENSP00000303600:L141V;ENSP00000389752:L141V;ENSP00000387370:L141V;ENSP00000314363:L141V;ENSP00000409720:L103V;ENSP00000343658:L121V	ENSP00000303600:L141V	L	+	1	2	MAP4K4	101812401	0.019000	0.18553	0.839000	0.33178	0.873000	0.50193	0.258000	0.18387	0.879000	0.35944	-0.145000	0.13849	CTG		0.413	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		8	18	0	0	0	1	0	8	18				
SURF4	6836	broad.mit.edu	37	9	136230344	136230344	+	3'UTR	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr9:136230344C>T	ENST00000371989.3	-	0	964				SURF4_ENST00000485435.2_Missense_Mutation_p.G159D|SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000467910.1_5'Flank	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4						Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGGGTCTTAGCCAGGCAGGTA	0.567																																						ENST00000485435.2																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(475-477)gGc>gAc		surfeit 4							58.0	63.0	61.0					9																	136230344		2203	4300	6503	SO:0001624	3_prime_UTR_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136230344C>T		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.*25G>A	9.37:g.136230344C>T						SURF4_ENST00000371989.3_3'UTR|SURF4_ENST00000545297.1_3'UTR	p.G159D			O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	6	605	-			0					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Missense_Mutation	SNP	ENST00000371989.3	37	c.476G>A	CCDS6968.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.110994	0.37242	.	.	ENSG00000148248	ENST00000485435	.	.	.	4.81	1.44	0.22558	.	.	.	.	.	T	0.50497	0.1619	.	.	.	0.29411	N	0.861236	.	.	.	.	.	.	T	0.53641	-0.8410	5	0.87932	D	0	.	10.107	0.42539	0.1413:0.5847:0.274:0.0	.	.	.	.	T	159	.	ENSP00000419853:A159T	A	-	1	0	SURF4	135220165	0.017000	0.18338	0.342000	0.25602	0.804000	0.45430	1.359000	0.34113	0.996000	0.38943	0.591000	0.81541	GCT		0.567	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		9	26	0	0	0	1	0	9	26				
XKR9	389668	broad.mit.edu	37	8	71593320	71593320	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:71593320G>T	ENST00000408926.3	+	3	561	c.27G>T	c.(25-27)atG>atT	p.M9I	XKR9_ENST00000520030.1_Missense_Mutation_p.M9I|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	9						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGAATTTTATGATGTCAGTTC	0.308																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(25-27)atG>atT		XK, Kell blood group complex subunit-related family, member 9							130.0	127.0	128.0					8																	71593320		2203	4299	6502	SO:0001583	missense	389668					integral to membrane		g.chr8:71593320G>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.27G>T	8.37:g.71593320G>T	ENSP00000386141:p.Met9Ile					XKR9_ENST00000520030.1_Missense_Mutation_p.M9I|XKR9_ENST00000520273.1_Intron	p.M9I	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		3	561	+	Breast(64;0.0716)		9					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.27G>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	8.715	0.913050	0.17907	.	.	ENSG00000221947	ENST00000408926;ENST00000520030;ENST00000519350	T;T;T	0.62232	0.04;0.04;0.04	5.61	-1.56	0.08532	.	0.848840	0.10917	N	0.619927	T	0.37183	0.0994	N	0.13043	0.29	0.26498	N	0.974828	B	0.02656	0.0	B	0.04013	0.001	T	0.20571	-1.0271	10	0.20519	T	0.43	-0.4518	6.5114	0.22224	0.1553:0.0:0.3068:0.5379	.	9	Q5GH70	XKR9_HUMAN	I	9	ENSP00000386141:M9I;ENSP00000431088:M9I;ENSP00000428904:M9I	ENSP00000386141:M9I	M	+	3	0	XKR9	71755874	0.009000	0.17119	0.987000	0.45799	0.979000	0.70002	-0.161000	0.10026	0.010000	0.14839	-0.203000	0.12734	ATG		0.308	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		61	127	1	0	8.52529e-16	1	9.26204e-16	61	127				
CDH9	1007	broad.mit.edu	37	5	26906947	26906947	+	Splice_Site	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:26906947C>T	ENST00000231021.4	-	4	696	c.524G>A	c.(523-525)gGt>gAt	p.G175D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	175	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AACAGATGTACCTACATGAAA	0.373																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.e4-1		cadherin 9, type 2 (T1-cadherin)							109.0	97.0	101.0					5																	26906947		2203	4300	6503	SO:0001630	splice_region_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26906947C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.524-1G>A	5.37:g.26906947C>T							p.G175_splice	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			4	696	-			175			Cadherin 2.		Q3B7I5	Splice_Site	SNP	ENST00000231021.4	37	c.523_splice	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214030	0.95104	.	.	ENSG00000113100	ENST00000231021	T	0.68624	-0.34	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83092	0.5179	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83349	-0.0004	9	.	.	.	.	18.3837	0.90459	0.0:1.0:0.0:0.0	.	175	Q9ULB4	CADH9_HUMAN	D	175	ENSP00000231021:G175D	.	G	-	2	0	CDH9	26942704	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.988000	0.70579	2.677000	0.91161	0.655000	0.94253	GGT		0.373	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	Missense_Mutation	29	85	0	0	0	1	0	29	85				
PKHD1L1	93035	broad.mit.edu	37	8	110467081	110467081	+	Splice_Site	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:110467081G>A	ENST00000378402.5	+	45	6978	c.6874G>A	c.(6874-6876)Ggt>Agt	p.G2292S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2292	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			GGATCTGCACGGTACTGTGGC	0.493										HNSCC(38;0.096)																												ENST00000378402.5																			0				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.e45+1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1																																				SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110467081G>A	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.6874+1G>A	8.37:g.110467081G>A		HNSCC(38;0.096)					p.G2292_splice	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		45	6978	+			2292			G8 1.		Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37	c.6874_splice	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	35	5.539892	0.96474	.	.	ENSG00000205038	ENST00000378402	D	0.95788	-3.81	5.65	5.65	0.86999	G8 domain (2);	0.000000	0.85682	D	0.000000	D	0.98121	0.9380	M	0.90309	3.105	0.51233	D	0.999911	D	0.89917	1.0	D	0.91635	0.999	D	0.98411	1.0572	10	0.59425	D	0.04	.	17.5948	0.88009	0.0:0.0:1.0:0.0	.	2292	Q86WI1	PKHL1_HUMAN	S	2292	ENSP00000367655:G2292S	ENSP00000367655:G2292S	G	+	1	0	PKHD1L1	110536257	1.000000	0.71417	0.980000	0.43619	0.853000	0.48598	8.076000	0.89503	2.827000	0.97445	0.650000	0.86243	GGT		0.493	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Missense_Mutation	23	42	0	0	0	1	0	23	42				
SLC22A16	85413	broad.mit.edu	37	6	110763810	110763810	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:110763810G>C	ENST00000368919.3	-	4	886	c.820C>G	c.(820-822)Ctc>Gtc	p.L274V	SLC22A16_ENST00000439654.1_Missense_Mutation_p.L274V|RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000330550.4_Missense_Mutation_p.L240V|SLC22A16_ENST00000456137.2_3'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	274					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	ACTGTGGAGAGGATCATCTGG	0.493																																						ENST00000368919.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(820-822)Ctc>Gtc		solute carrier family 22 (organic cation/carnitine transporter), member 16							110.0	109.0	109.0					6																	110763810		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110763810G>C		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.820C>G	6.37:g.110763810G>C	ENSP00000357915:p.Leu274Val					SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000330550.4_Missense_Mutation_p.L240V|SLC22A16_ENST00000439654.1_Missense_Mutation_p.L274V	p.L274V	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	4	886	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	274					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.820C>G	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475215	0.84640	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	4.78	4.78	0.61160	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.061343	0.64402	N	0.000003	T	0.76730	0.4028	L	0.41027	1.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.74396	-0.3679	10	0.31617	T	0.26	.	18.1444	0.89651	0.0:0.0:1.0:0.0	.	274;240	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	V	274;191;240;274;104;231	ENSP00000357915:L274V;ENSP00000395642:L191V;ENSP00000328583:L240V;ENSP00000408799:L274V;ENSP00000409306:L104V;ENSP00000416310:L231V	ENSP00000328583:L240V	L	-	1	0	SLC22A16	110870503	1.000000	0.71417	0.951000	0.38953	0.991000	0.79684	8.915000	0.92740	2.346000	0.79739	0.655000	0.94253	CTC		0.493	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		17	69	0	0	0	1	0	17	69				
ACE2	59272	broad.mit.edu	37	X	15613095	15613095	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chrX:15613095A>G	ENST00000252519.3	-	2	320	c.218T>C	c.(217-219)tTa>tCa	p.L73S	ACE2_ENST00000427411.1_Missense_Mutation_p.L73S			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	73					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CTGTTCCTTTAAAAAGGCAGA	0.398																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(217-219)tTa>tCa		angiotensin I converting enzyme 2	Moexipril(DB00691)						195.0	181.0	186.0					X																	15613095		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15613095A>G	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.218T>C	X.37:g.15613095A>G	ENSP00000252519:p.Leu73Ser					ACE2_ENST00000252519.3_Missense_Mutation_p.L73S	p.L73S	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			3	434	-	Hepatocellular(33;0.183)		73					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.218T>C	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	A	5.537	0.284020	0.10513	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.31247	1.5;1.5	6.02	4.85	0.62838	.	0.130763	0.53938	D	0.000052	T	0.17704	0.0425	N	0.17312	0.475	0.29685	N	0.841366	B	0.02656	0.0	B	0.12156	0.007	T	0.15009	-1.0452	10	0.25106	T	0.35	-6.5639	8.3923	0.32535	0.1837:0.0:0.0:0.8163	.	73	Q9BYF1	ACE2_HUMAN	S	73	ENSP00000252519:L73S;ENSP00000389326:L73S	ENSP00000252519:L73S	L	-	2	0	ACE2	15523016	1.000000	0.71417	0.997000	0.53966	0.004000	0.04260	3.603000	0.54074	0.865000	0.35603	-0.410000	0.06199	TTA		0.398	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			91	70	0	0	0	1	0	91	70				
CNOT7	29883	broad.mit.edu	37	8	17088314	17088314	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:17088314T>C	ENST00000361272.4	-	7	1071	c.773A>G	c.(772-774)cAt>cGt	p.H258R		NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	258					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		GCCATACAAATGACCACAATA	0.353																																						ENST00000361272.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11						c.(772-774)cAt>cGt		CCR4-NOT transcription complex, subunit 7							96.0	86.0	89.0					8																	17088314		2203	4300	6503	SO:0001583	missense	29883				carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr8:17088314T>C	L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"""BTG1 binding factor 1"""	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.773A>G	8.37:g.17088314T>C	ENSP00000355279:p.His258Arg						p.H258R	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN		Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)	7	1071	-			258					A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Missense_Mutation	SNP	ENST00000361272.4	37	c.773A>G	CCDS6000.2	.	.	.	.	.	.	.	.	.	.	T	7.297	0.612303	0.14066	.	.	ENSG00000198791	ENST00000361272	T	0.40756	1.02	5.0	5.0	0.66597	Ribonuclease H-like (1);	0.047467	0.85682	D	0.000000	T	0.26484	0.0647	N	0.12569	0.235	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.05886	-1.0858	10	0.23302	T	0.38	-19.6176	15.4096	0.74908	0.0:0.0:0.0:1.0	.	258	Q9UIV1	CNOT7_HUMAN	R	258	ENSP00000355279:H258R	ENSP00000355279:H258R	H	-	2	0	CNOT7	17132685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.936000	0.70153	2.180000	0.69256	0.533000	0.62120	CAT		0.353	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354		9	90	0	0	0	1	0	9	90				
GABPA	2551	broad.mit.edu	37	21	27113950	27113950	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr21:27113950T>C	ENST00000354828.3	+	2	568	c.41T>C	c.(40-42)aTt>aCt	p.I14T	GABPA_ENST00000487266.1_Intron|GABPA_ENST00000400075.3_Missense_Mutation_p.I14T	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	14					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GAAATTGAGATTGATGGAACA	0.333																																						ENST00000354828.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						c.(40-42)aTt>aCt		GA binding protein transcription factor, alpha subunit 60kDa							100.0	103.0	102.0					21																	27113950		2203	4300	6503	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27113950T>C		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.41T>C	21.37:g.27113950T>C	ENSP00000346886:p.Ile14Thr					GABPA_ENST00000400075.3_Missense_Mutation_p.I14T|GABPA_ENST00000487266.1_Intron	p.I14T	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN			2	568	+			14					Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.41T>C	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.240184	0.22711	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.12984	2.63;2.63	5.78	5.78	0.91487	.	0.286677	0.39475	N	0.001356	T	0.17408	0.0418	N	0.24115	0.695	0.80722	D	1	P	0.50156	0.932	P	0.58520	0.84	T	0.01834	-1.1264	10	0.02654	T	1	.	15.7681	0.78143	0.0:0.0:0.0:1.0	.	14	Q06546	GABPA_HUMAN	T	14	ENSP00000346886:I14T;ENSP00000382948:I14T	ENSP00000346886:I14T	I	+	2	0	GABPA	26035821	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.013000	0.76373	2.201000	0.70794	0.459000	0.35465	ATT		0.333	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		27	27	0	0	0	1	0	27	27				
DGAT1	8694	broad.mit.edu	37	8	145541642	145541642	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:145541642C>T	ENST00000332324.4	-	9	1063	c.790G>A	c.(790-792)Gag>Aag	p.E264K	DGAT1_ENST00000531896.1_Missense_Mutation_p.R294Q|GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000527438.1_5'Flank	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	264					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	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;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AAGTTGAGCTCGTAGCACAAG	0.627																																						ENST00000332324.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(790-792)Gag>Aag		diacylglycerol O-acyltransferase 1							35.0	42.0	40.0					8																	145541642		2203	4292	6495	SO:0001583	missense	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145541642C>T	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.790G>A	8.37:g.145541642C>T	ENSP00000332258:p.Glu264Lys					DGAT1_ENST00000531896.1_Missense_Mutation_p.R294Q	p.E264K	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		9	1063	-	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)		264					B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	37	c.790G>A	CCDS6420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.355699|4.355699	0.82243|0.82243	.|.	.|.	ENSG00000185000|ENSG00000185000	ENST00000332324|ENST00000531896	T|.	0.72942|.	-0.7|.	4.68|4.68	3.79|3.79	0.43588|0.43588	.|.	0.117966|.	0.56097|.	D|.	0.000036|.	T|T	0.61813|0.61813	0.2377|0.2377	M|M	0.83012|0.83012	2.62|2.62	0.22366|0.22366	N|N	0.99916|0.99916	D|.	0.89917|.	1.0|.	D|.	0.73380|.	0.98|.	T|T	0.56062|0.56062	-0.8041|-0.8041	10|6	0.87932|0.87932	D|D	0|0	-17.1318|-17.1318	10.3342|10.3342	0.43839|0.43839	0.0:0.903:0.0:0.097|0.0:0.903:0.0:0.097	.|.	264|.	O75907|.	DGAT1_HUMAN|.	K|Q	264|294	ENSP00000332258:E264K|.	ENSP00000332258:E264K|ENSP00000432795:R294Q	E|R	-|-	1|2	0|0	DGAT1|DGAT1	145512450|145512450	0.999000|0.999000	0.42202|0.42202	0.446000|0.446000	0.26920|0.26920	0.950000|0.950000	0.60333|0.60333	2.770000|2.770000	0.47662|0.47662	1.187000|1.187000	0.43000|0.43000	0.484000|0.484000	0.47621|0.47621	GAG|CGA		0.627	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		12	68	0	0	0	1	0	12	68				
KIAA0907	22889	broad.mit.edu	37	1	155893432	155893432	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:155893432T>G	ENST00000368321.3	-	8	963	c.940A>C	c.(940-942)Aat>Cat	p.N314H	KIAA0907_ENST00000368319.3_Missense_Mutation_p.N314H|KIAA0907_ENST00000482337.1_5'UTR|SCARNA4_ENST00000516999.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.N314H	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	314							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TGCAAAAGATTCTCACAAAGC	0.388																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(940-942)Aat>Cat		KIAA0907							102.0	106.0	104.0					1																	155893432		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155893432T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.940A>C	1.37:g.155893432T>G	ENSP00000357304:p.Asn314His					KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.N314H|KIAA0907_ENST00000368321.3_Missense_Mutation_p.N314H	p.N314H			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		8	965	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		314					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.940A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507506	0.85282	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	T;T;T	0.44881	0.91;0.91;0.91	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.61912	0.2385	M	0.82323	2.585	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.97	D;D;D	0.91635	0.976;0.999;0.972	T	0.69091	-0.5237	10	0.87932	D	0	-12.275	15.7756	0.78214	0.0:0.0:0.0:1.0	.	314;314;314	Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;K0907_HUMAN	H	314	ENSP00000357304:N314H;ENSP00000357303:N314H;ENSP00000357302:N314H	ENSP00000357302:N314H	N	-	1	0	KIAA0907	154160056	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.676000	0.84012	2.214000	0.71695	0.528000	0.53228	AAT		0.388	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		26	91	0	0	0	1	0	26	91				
FRG1B	284802	broad.mit.edu	37	20	29624046	29624046	+	Missense_Mutation	SNP	C	C	T	rs10153995		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:29624046C>T	ENST00000278882.3	+	4	450	c.70C>T	c.(70-72)Cct>Tct	p.P24S	FRG1B_ENST00000358464.4_Missense_Mutation_p.P24S|FRG1B_ENST00000439954.2_Missense_Mutation_p.P29S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	24										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATGAGGGCCCTAGTCCTCC	0.279																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(70-72)Cct>Tct																																						SO:0001583	missense	284802							g.chr20:29624046C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.70C>T	20.37:g.29624046C>T	ENSP00000278882:p.Pro24Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.P29S|FRG1B_ENST00000358464.4_Missense_Mutation_p.P24S	p.P24S							4	450	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.70C>T		.	.	.	.	.	.	.	.	.	.	c	13.70	2.316522	0.40996	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.72394	-0.65	1.91	1.91	0.25777	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	.	.	.	0.54753	D	0.999982	.	.	.	.	.	.	T	0.76260	-0.3024	7	0.56958	D	0.05	.	9.8627	0.41125	0.0:1.0:0.0:0.0	rs10153995	.	.	.	S	24;29;24	ENSP00000408863:P29S	ENSP00000278882:P24S	P	+	1	0	FRG1B	28237707	1.000000	0.71417	0.999000	0.59377	0.522000	0.34438	6.186000	0.72026	1.383000	0.46405	0.184000	0.17185	CCT		0.279	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	29	0	0	0	1	0	3	29				
SCFD2	152579	broad.mit.edu	37	4	54231861	54231861	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:54231861C>T	ENST00000401642.3	-	1	381	c.248G>A	c.(247-249)gGc>gAc	p.G83D	SCFD2_ENST00000388940.4_Missense_Mutation_p.G83D	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	83					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CACGGTCCGGCCTTTCAGCAG	0.592																																						ENST00000401642.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(247-249)gGc>gAc		sec1 family domain containing 2							82.0	68.0	73.0					4																	54231861		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54231861C>T	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.248G>A	4.37:g.54231861C>T	ENSP00000384182:p.Gly83Asp					SCFD2_ENST00000388940.4_Missense_Mutation_p.G83D	p.G83D	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		1	381	-			83					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.248G>A	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943734	0.92593	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.43688	0.95;0.94	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.64837	-0.6313	10	0.72032	D	0.01	.	16.6411	0.85127	0.0:1.0:0.0:0.0	.	83;83	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	D	83	ENSP00000384182:G83D;ENSP00000373592:G83D	ENSP00000373592:G83D	G	-	2	0	SCFD2	53926618	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.767000	0.74975	2.873000	0.98535	0.561000	0.74099	GGC		0.592	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		23	41	0	0	0	1	0	23	41				
COBL	23242	broad.mit.edu	37	7	51095537	51095537	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr7:51095537G>C	ENST00000265136.7	-	10	3421	c.3256C>G	c.(3256-3258)Ccc>Gcc	p.P1086A	COBL_ENST00000395542.2_Missense_Mutation_p.P1168A	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1086					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AAAATGCTGGGTGGCCAAATA	0.488																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3502-3504)Ccc>Gcc		cordon-bleu WH2 repeat protein							173.0	162.0	165.0					7																	51095537		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51095537G>C	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3256C>G	7.37:g.51095537G>C	ENSP00000265136:p.Pro1086Ala					COBL_ENST00000265136.7_Missense_Mutation_p.P1086A	p.P1168A			O75128	COBL_HUMAN			12	3686	-	Glioma(55;0.08)		1086			WH2 2.		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3502C>G	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	4.487	0.090298	0.08632	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.10573	2.87;2.89;2.87;2.86	5.41	-7.75	0.01236	.	1.203370	0.06152	N	0.674434	T	0.03011	0.0089	N	0.04880	-0.145	0.09310	N	1	B;B;B;B;B	0.17667	0.018;0.004;0.005;0.018;0.023	B;B;B;B;B	0.14578	0.011;0.011;0.001;0.005;0.008	T	0.40850	-0.9541	10	0.09338	T	0.73	.	1.7794	0.03028	0.3318:0.3538:0.1366:0.1779	.	1086;1143;1086;1168;628	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	A	1086;978;971;1168	ENSP00000265136:P1086A;ENSP00000401204:P978A;ENSP00000413498:P971A;ENSP00000378912:P1168A	ENSP00000265136:P1086A	P	-	1	0	COBL	51063031	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.417000	0.07088	-1.149000	0.02843	-0.253000	0.11424	CCC		0.488	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		18	147	0	0	0	1	0	18	147				
FSTL5	56884	broad.mit.edu	37	4	162307559	162307559	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:162307559T>A	ENST00000306100.5	-	16	2320	c.1884A>T	c.(1882-1884)aaA>aaT	p.K628N	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.K627N|FSTL5_ENST00000536695.1_Missense_Mutation_p.K627N|FSTL5_ENST00000427802.2_Missense_Mutation_p.K618N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	628						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAAGATCAATTTTTTGTAGTG	0.358																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(1882-1884)aaA>aaT		follistatin-like 5							48.0	46.0	47.0					4																	162307559		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162307559T>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1884A>T	4.37:g.162307559T>A	ENSP00000305334:p.Lys628Asn					FSTL5_ENST00000427802.2_Missense_Mutation_p.K618N|FSTL5_ENST00000379164.4_Missense_Mutation_p.K627N|FSTL5_ENST00000536695.1_Missense_Mutation_p.K627N|RP11-234O6.2_ENST00000508189.1_RNA	p.K628N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2320	-	all_hematologic(180;0.24)		628					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1884A>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.070813	0.76301	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.78481	-1.15;-1.13;-1.18;-1.13	5.77	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87317	0.6147	M	0.82193	2.58	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.88560	0.3122	10	0.87932	D	0	.	10.5111	0.44862	0.0:0.0752:0.0:0.9248	.	618;627;628	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	N	628;627;618;627	ENSP00000305334:K628N;ENSP00000368462:K627N;ENSP00000389270:K618N;ENSP00000440409:K627N	ENSP00000305334:K628N	K	-	3	2	FSTL5	162527009	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.870000	0.39529	2.205000	0.71048	0.460000	0.39030	AAA		0.358	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		42	47	0	0	0	1	0	42	47				
ZNHIT3	9326	broad.mit.edu	37	17	34848722	34848722	+	Missense_Mutation	SNP	G	G	A	rs548272327		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:34848722G>A	ENST00000225410.4	+	3	249	c.184G>A	c.(184-186)Gta>Ata	p.V62I	ZNHIT3_ENST00000590858.1_Intron|RNA5SP439_ENST00000517103.1_RNA|ZNHIT3_ENST00000588253.1_5'UTR|ZNHIT3_ENST00000592616.1_Missense_Mutation_p.V62I|ZNHIT3_ENST00000490126.2_5'UTR	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	62					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		TACCAAAACCGTAAAGCCTGT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		20471	0.0		0.0	False		,,,				2504	0.001				Pancreas(89;112 2361 26810)	ENST00000225410.4																			0				lung(1)|pancreas(1)|prostate(1)	3						c.(184-186)Gta>Ata		zinc finger, HIT-type containing 3							89.0	87.0	88.0					17																	34848722		2203	4300	6503	SO:0001583	missense	9326				regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding	g.chr17:34848722G>A	L40410	CCDS11312.1, CCDS62156.1	17q21.1	2014-04-10	2010-09-15	2005-09-08	ENSG00000108278	ENSG00000273611		"""Zinc fingers, HIT-type"""	12309	protein-coding gene	gene with protein product		604500	"""thyroid hormone receptor interactor 3"", ""zinc finger, HIT type 3"""	TRIP3		7776974	Standard	NM_004773		Approved		uc002hms.1	Q15649	OTTHUMG00000188436	ENST00000225410.4:c.184G>A	17.37:g.34848722G>A	ENSP00000225410:p.Val62Ile					ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000592616.1_Missense_Mutation_p.V62I|ZNHIT3_ENST00000588253.1_5'UTR|ZNHIT3_ENST00000590858.1_Intron	p.V62I	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)	3	249	+		Breast(25;0.00957)|Ovarian(249;0.17)	62					A8K493|K7EQP1|Q8WVJ3	Missense_Mutation	SNP	ENST00000225410.4	37	c.184G>A	CCDS11312.1	.	.	.	.	.	.	.	.	.	.	.	8.925	0.962006	0.18583	.	.	ENSG00000108278	ENST00000225410	.	.	.	4.85	-9.42	0.00610	.	2.475880	0.01303	N	0.010347	T	0.21022	0.0506	N	0.16478	0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08932	-1.0698	9	0.37606	T	0.19	.	3.7578	0.08592	0.2035:0.1145:0.4575:0.2245	.	36;62	Q59GB6;Q15649	.;ZNHI3_HUMAN	I	62	.	ENSP00000225410:V62I	V	+	1	0	ZNHIT3	31922835	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.262000	0.02852	-1.796000	0.01253	-1.899000	0.00529	GTA		0.443	ZNHIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256697.1	NM_004773		4	107	0	0	0	1	0	4	107				
SYNE1	23345	broad.mit.edu	37	6	152652079	152652079	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:152652079C>G	ENST00000367255.5	-	78	14342	c.13741G>C	c.(13741-13743)Gca>Cca	p.A4581P	SYNE1_ENST00000448038.1_Missense_Mutation_p.A4510P|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4328P|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4581P|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4510P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4581					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAATATCTGCTTGTTTTAGC	0.363										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(13741-13743)Gca>Cca		spectrin repeat containing, nuclear envelope 1							157.0	162.0	161.0					6																	152652079		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652079C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13741G>C	6.37:g.152652079C>G	ENSP00000356224:p.Ala4581Pro	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.A4510P|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4328P|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4581P|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4510P	p.A4581P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14342	-		Ovarian(120;0.0955)	4581					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.13741G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027012	0.54683	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.56776	1.16;1.16;1.16;1.16;0.44	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000007	T	0.65780	0.2724	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72625	0.978;0.946;0.946;0.976	T	0.65455	-0.6164	10	0.51188	T	0.08	.	15.8897	0.79286	0.1359:0.8641:0.0:0.0	.	4581;4581;4581;4510	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	P	4581;4510;4581;4510;4328	ENSP00000356224:A4581P;ENSP00000396024:A4510P;ENSP00000265368:A4581P;ENSP00000390975:A4510P;ENSP00000341887:A4328P	ENSP00000265368:A4581P	A	-	1	0	SYNE1	152693772	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.875000	0.63072	2.805000	0.96524	0.655000	0.94253	GCA		0.363	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		42	174	0	0	0	1	0	42	174				
SECISBP2	79048	broad.mit.edu	37	9	91973672	91973672	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr9:91973672G>C	ENST00000375807.3	+	17	2569	c.2498G>C	c.(2497-2499)gGa>gCa	p.G833A	SECISBP2_ENST00000534113.2_Missense_Mutation_p.G765A|SECISBP2_ENST00000339901.4_Missense_Mutation_p.G760A|SEMA4D_ENST00000469653.1_5'Flank	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	833					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GCATACAGTGGATGTACCCTG	0.393																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(2497-2499)gGa>gCa		SECIS binding protein 2							112.0	106.0	108.0					9																	91973672		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91973672G>C	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2498G>C	9.37:g.91973672G>C	ENSP00000364965:p.Gly833Ala					SECISBP2_ENST00000339901.4_Missense_Mutation_p.G760A|SECISBP2_ENST00000534113.2_Missense_Mutation_p.G765A	p.G833A	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			17	2569	+			833					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.2498G>C	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	1.533	-0.543782	0.04053	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.71341	-0.55;-0.56;-0.55	4.59	-8.78	0.00824	.	1.281880	0.05262	N	0.515976	T	0.43853	0.1266	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35276	-0.9795	10	0.19147	T	0.46	1.1103	9.8853	0.41257	0.5622:0.219:0.2189:0.0	.	840;760;833	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	A	833;839;760;765	ENSP00000364965:G833A;ENSP00000364959:G760A;ENSP00000436650:G765A	ENSP00000364959:G760A	G	+	2	0	SECISBP2	91163492	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-1.540000	0.02200	-2.274000	0.00680	-1.872000	0.00552	GGA		0.393	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		44	40	0	0	0	1	0	44	40				
PLCB4	5332	broad.mit.edu	37	20	9459635	9459635	+	Nonstop_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:9459635G>C	ENST00000378493.1	+	35	3542	c.3527G>C	c.(3526-3528)tGa>tCa	p.*1176S	PLCB4_ENST00000378473.3_Nonstop_Mutation_p.*1188S|PLCB4_ENST00000278655.4_Nonstop_Mutation_p.*1176S|PLCB4_ENST00000378501.2_Missense_Mutation_p.M1188I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M1188I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Nonstop_Mutation_p.*1188S			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	0					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACAGTAGTATGAAACTCCAAA	0.433																																						ENST00000378493.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(3526-3528)tGa>tCa		phospholipase C, beta 4							144.0	116.0	125.0					20																	9459635		2203	4300	6503	SO:0001578	stop_lost	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9459635G>C		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3527G>C	20.37:g.9459635G>C	ENSP00000367754:p.*1176Serext*39					PLCB4_ENST00000414679.2_Nonstop_Mutation_p.*1188S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.M1188I|PLCB4_ENST00000378473.3_Nonstop_Mutation_p.*1188S|PLCB4_ENST00000334005.3_Missense_Mutation_p.M1188I|PLCB4_ENST00000278655.4_Nonstop_Mutation_p.*1176S	p.*1176S			Q15147	PLCB4_HUMAN			35	3542	+			0					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Nonstop_Mutation	SNP	ENST00000378493.1	37	c.3527G>C	CCDS13105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.13|11.13	1.549153|1.549153	0.27652|0.27652	.|.	.|.	ENSG00000101333|ENSG00000101333	ENST00000334005;ENST00000378501|ENST00000378473;ENST00000278655;ENST00000378493;ENST00000414679	T;T|.	0.16073|.	2.37;2.37|.	5.58|5.58	2.57|2.57	0.30868|0.30868	.|.	0.710886|.	0.12568|.	N|.	0.457546|.	T|.	0.27832|.	0.0685|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.16630|.	-1.0396|.	9|.	0.30078|.	T|.	0.28|.	.|.	5.9058|5.9058	0.19001|0.19001	0.4343:0.0:0.5657:0.0|0.4343:0.0:0.5657:0.0	.|.	1188|.	Q15147-4|.	.|.	I|S	1188|1188;1176;1176;1024	ENSP00000334105:M1188I;ENSP00000367762:M1188I|.	ENSP00000334105:M1188I|.	M|X	+|+	3|2	0|2	PLCB4|PLCB4	9407635|9407635	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.549000|1.549000	0.36212|0.36212	1.350000|1.350000	0.45770|0.45770	0.655000|0.655000	0.94253|0.94253	ATG|TGA		0.433	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			4	29	0	0	0	1	0	4	29				
VPS13D	55187	broad.mit.edu	37	1	12429604	12429604	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:12429604C>T	ENST00000358136.3	+	54	10785	c.10655C>T	c.(10654-10656)gCc>gTc	p.A3552V	VPS13D_ENST00000356315.4_Missense_Mutation_p.A3527V|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGGATTATGCCTGGGACGAA	0.507																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10654-10656)gCc>gTc		vacuolar protein sorting 13 homolog D (S. cerevisiae)							145.0	146.0	145.0					1																	12429604		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12429604C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10655C>T	1.37:g.12429604C>T	ENSP00000350854:p.Ala3552Val					VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.A3527V	p.A3552V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	54	10785	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3551						Missense_Mutation	SNP	ENST00000358136.3	37	c.10655C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.718458|4.718458	0.89205|0.89205	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.51817|.	0.69;0.69|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Vacuolar protein sorting-associated protein (1);|.	0.095682|.	0.64402|.	D|.	0.000001|.	T|T	0.55705|0.55705	0.1937|0.1937	N|N	0.20807|0.20807	0.61|0.61	0.80722|0.80722	D|D	1|1	P;P|.	0.45634|.	0.733;0.863|.	P;P|.	0.56216|.	0.69;0.794|.	T|T	0.47812|0.47812	-0.9088|-0.9088	10|5	0.51188|.	T|.	0.08|.	.|.	20.0146|20.0146	0.97475|0.97475	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3527;3551|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	V|S	3527;3552|2374	ENSP00000348666:A3527V;ENSP00000350854:A3552V|.	ENSP00000348666:A3527V|.	A|P	+|+	2|1	0|0	VPS13D|VPS13D	12352191|12352191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.455000|7.455000	0.80726|0.80726	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GCC|CCT		0.507	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		5	256	0	0	0	1	0	5	256				
DPEP3	64180	broad.mit.edu	37	16	68014253	68014253	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:68014253C>T	ENST00000268793.4	-	1	479	c.106G>A	c.(106-108)Gcg>Acg	p.A36T	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	11					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CGGCTGAGCGCGCGGGAACCC	0.751																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(106-108)Gcg>Acg		dipeptidase 3							4.0	6.0	5.0					16																	68014253		1870	3698	5568	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68014253C>T	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.106G>A	16.37:g.68014253C>T	ENSP00000268793:p.Ala36Thr					DPEP3_ENST00000574342.1_5'UTR	p.A36T	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	1	479	-		Ovarian(137;0.192)	11					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.106G>A	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700519	0.30142	.	.	ENSG00000141096	ENST00000268793	T	0.18016	2.24	3.41	0.221	0.15283	.	1.320510	0.05567	N	0.570494	T	0.10465	0.0256	L	0.33485	1.01	0.09310	N	1	B	0.25955	0.138	B	0.14023	0.01	T	0.33574	-0.9863	10	0.20046	T	0.44	-0.0977	1.8521	0.03171	0.2119:0.4626:0.2059:0.1196	.	11	Q9H4B8	DPEP3_HUMAN	T	36	ENSP00000268793:A36T	ENSP00000268793:A36T	A	-	1	0	DPEP3	66571754	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.009000	0.13219	0.093000	0.17368	0.561000	0.74099	GCG		0.751	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		4	2	0	0	0	1	0	4	2				
SLC45A1	50651	broad.mit.edu	37	1	8398028	8398028	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:8398028G>A	ENST00000471889.1	+	7	2135	c.1750G>A	c.(1750-1752)Gcc>Acc	p.A584T	SLC45A1_ENST00000289877.8_Missense_Mutation_p.A584T|SLC45A1_ENST00000377479.2_Missense_Mutation_p.A618T			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	584					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTATCTACGCCTTCAGTGC	0.602																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1750-1752)Gcc>Acc		solute carrier family 45, member 1							99.0	91.0	93.0					1																	8398028		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8398028G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1750G>A	1.37:g.8398028G>A	ENSP00000418096:p.Ala584Thr					SLC45A1_ENST00000377479.2_Missense_Mutation_p.A618T|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A584T	p.A584T			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	7	2135	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	584					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.1750G>A	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171765	0.57584	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.81499	-1.5;-1.5;-1.5	4.83	3.91	0.45181	Major facilitator superfamily domain, general substrate transporter (1);	0.161379	0.53938	N	0.000042	T	0.74824	0.3767	L	0.45470	1.425	0.58432	D	0.999999	B	0.21452	0.056	B	0.13407	0.009	T	0.72097	-0.4393	10	0.66056	D	0.02	-31.899	13.5351	0.61643	0.0:0.0:0.8429:0.1571	.	584	Q9Y2W3	S45A1_HUMAN	T	584;618;584	ENSP00000418096:A584T;ENSP00000366699:A618T;ENSP00000289877:A584T	ENSP00000289877:A584T	A	+	1	0	SLC45A1	8320615	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.380000	0.97202	0.976000	0.38417	0.655000	0.94253	GCC		0.602	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			16	71	0	0	0	1	0	16	71				
RAB3GAP2	25782	broad.mit.edu	37	1	220369734	220369734	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:220369734A>G	ENST00000358951.2	-	10	934	c.818T>C	c.(817-819)aTg>aCg	p.M273T		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	273					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GGACAGAGTCATAATACCTAA	0.328																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(817-819)aTg>aCg		RAB3 GTPase activating protein subunit 2 (non-catalytic)							68.0	72.0	70.0					1																	220369734		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220369734A>G	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.818T>C	1.37:g.220369734A>G	ENSP00000351832:p.Met273Thr						p.M273T	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	10	934	-			273					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.818T>C	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	A	2.084	-0.410051	0.04799	.	.	ENSG00000118873	ENST00000358951	T	0.28895	1.59	5.61	4.49	0.54785	.	0.161226	0.64402	N	0.000002	T	0.15478	0.0373	N	0.12182	0.205	0.45867	D	0.99872	B	0.02656	0.0	B	0.06405	0.002	T	0.06250	-1.0837	10	0.08381	T	0.77	.	11.2694	0.49129	0.9288:0.0:0.0712:0.0	.	273	Q9H2M9	RBGPR_HUMAN	T	273	ENSP00000351832:M273T	ENSP00000351832:M273T	M	-	2	0	RAB3GAP2	218436357	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.946000	0.63576	0.972000	0.38314	0.379000	0.24179	ATG		0.328	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		34	125	0	0	0	1	0	34	125				
TSHZ2	128553	broad.mit.edu	37	20	51870694	51870694	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:51870694C>T	ENST00000371497.5	+	2	1584	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	TSHZ2_ENST00000329613.6_Missense_Mutation_p.H230Y|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.H230Y	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	233					multicellular organismal development (GO:0007275)|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(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCTGACTGTGCACATGAATGA	0.537																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(697-699)Cac>Tac		teashirt zinc finger homeobox 2							59.0	51.0	54.0					20																	51870694		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870694C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.697C>T	20.37:g.51870694C>T	ENSP00000360552:p.His233Tyr					TSHZ2_ENST00000603338.2_Missense_Mutation_p.H230Y|TSHZ2_ENST00000329613.6_Missense_Mutation_p.H230Y	p.H233Y	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1584	+			233					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.697C>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487510	0.84854	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.42131	0.98;0.99	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.66838	-0.5822	10	0.87932	D	0	-23.1639	19.0899	0.93223	0.0:1.0:0.0:0.0	.	233	Q9NRE2	TSH2_HUMAN	Y	233;230	ENSP00000360552:H233Y;ENSP00000333114:H230Y	ENSP00000333114:H230Y	H	+	1	0	TSHZ2	51304101	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.440000	0.80464	2.579000	0.87056	0.643000	0.83706	CAC		0.537	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		15	28	0	0	0	1	0	15	28				
EPX	8288	broad.mit.edu	37	17	56271375	56271375	+	Silent	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:56271375C>T	ENST00000225371.5	+	5	626	c.516C>T	c.(514-516)ccC>ccT	p.P172P		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	172					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GCTGGCTGCCCGCCGAGTATG	0.652																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(514-516)ccC>ccT		eosinophil peroxidase							27.0	29.0	29.0					17																	56271375		2203	4300	6503	SO:0001819	synonymous_variant	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56271375C>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.516C>T	17.37:g.56271375C>T							p.P172P	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			5	626	+			172					Q4TVP3	Silent	SNP	ENST00000225371.5	37	c.516C>T	CCDS11602.1																																																																																				0.652	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		29	18	0	0	0	1	0	29	18				
SESN1	27244	broad.mit.edu	37	6	109323525	109323525	+	Silent	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:109323525G>T	ENST00000356644.7	-	2	218	c.124C>A	c.(124-126)Cga>Aga	p.R42R	SESN1_ENST00000436639.2_Silent_p.R101R|SESN1_ENST00000302071.2_5'UTR	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	42					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CCTAGTGGTCGAGGAATTCTA	0.413																																						ENST00000436639.2																			0				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(301-303)Cga>Aga		sestrin 1							147.0	123.0	131.0					6																	109323525		2203	4300	6503	SO:0001819	synonymous_variant	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109323525G>T	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.124C>A	6.37:g.109323525G>T						SESN1_ENST00000302071.2_5'UTR|SESN1_ENST00000356644.7_Silent_p.R42R	p.R101R	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	2	1046	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	42					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Silent	SNP	ENST00000356644.7	37	c.301C>A	CCDS56445.1																																																																																				0.413	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		31	28	1	0	3.03874e-20	1	3.38493e-20	31	28				
ZNF675	171392	broad.mit.edu	37	19	23837404	23837404	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:23837404A>G	ENST00000359788.4	-	4	499	c.331T>C	c.(331-333)Ttt>Ctt	p.F111L	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	111					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTAACTGAAAATTATCATTT	0.348																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(331-333)Ttt>Ctt		zinc finger protein 675							66.0	66.0	66.0					19																	23837404		2203	4297	6500	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23837404A>G		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.331T>C	19.37:g.23837404A>G	ENSP00000352836:p.Phe111Leu					ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	p.F111L	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	499	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	111					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.331T>C	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.859115	0.00065	.	.	ENSG00000197372	ENST00000359788	T	0.05319	3.46	1.13	-0.269	0.12930	.	.	.	.	.	T	0.00906	0.0030	N	0.00034	-2.565	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37478	-0.9704	9	0.02654	T	1	.	5.4035	0.16308	0.7753:0.0:0.2247:0.0	.	111	Q8TD23	ZN675_HUMAN	L	111	ENSP00000352836:F111L	ENSP00000352836:F111L	F	-	1	0	ZNF675	23629244	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-0.428000	0.06991	-1.749000	0.01330	-1.889000	0.00537	TTT		0.348	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		14	240	0	0	0	1	0	14	240				
HIST1H3I	8354	broad.mit.edu	37	6	27839984	27839984	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:27839984T>A	ENST00000328488.2	-	1	115	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	37					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTGGGGCTTCTTGACGCCACC	0.672																																						ENST00000328488.2																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(109-111)aAg>aTg		histone cluster 1, H3i							35.0	40.0	39.0					6																	27839984		2202	4298	6500	SO:0001583	missense	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839984T>A	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.110A>T	6.37:g.27839984T>A	ENSP00000329554:p.Lys37Met						p.K37M	NM_003533.2	NP_003524.1	P68431	H31_HUMAN			1	115	-			37					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000328488.2	37	c.110A>T	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.163034	0.38217	.	.	ENSG00000182572	ENST00000328488	T	0.56776	0.44	4.12	4.12	0.48240	.	.	.	.	.	T	0.57666	0.2069	.	.	.	0.40285	D	0.97844	.	.	.	.	.	.	T	0.64567	-0.6377	6	0.87932	D	0	.	13.3331	0.60500	0.0:0.0:0.0:1.0	.	.	.	.	M	37	ENSP00000329554:K37M	ENSP00000329554:K37M	K	-	2	0	HIST1H3I	27947963	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	5.859000	0.69539	2.086000	0.62901	0.528000	0.53228	AAG		0.672	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		36	89	0	0	0	1	0	36	89				
MCC	4163	broad.mit.edu	37	5	112487041	112487041	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:112487041G>A	ENST00000302475.4	-	2	699	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	MCC_ENST00000515367.2_De_novo_Start_OutOfFrame|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.R236W	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	46					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGAAGGTCCCGTTCCCTCTCT	0.413																																						ENST00000515367.2																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42								mutated in colorectal cancers							110.0	100.0	103.0					5																	112487041		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112487041G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.136C>T	5.37:g.112487041G>A	ENSP00000305617:p.Arg46Trp					MCC_ENST00000302475.4_Missense_Mutation_p.R46W|MCC_ENST00000408903.3_Missense_Mutation_p.R236W|MCC_ENST00000514701.3_5'UTR				P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	0	319	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)						D3DT05|Q6ZR04	Translation_Start_Site	SNP	ENST00000302475.4	37		CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987922	0.74589	.	.	ENSG00000171444	ENST00000302475;ENST00000408903	T;T	0.78126	-1.15;0.24	5.25	4.32	0.51571	.	0.000000	0.64402	D	0.000003	T	0.81527	0.4841	L	0.32530	0.975	0.49687	D	0.999813	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.973;0.996;0.973	T	0.82394	-0.0479	10	0.62326	D	0.03	-25.1105	13.7657	0.62992	0.0:0.0:0.754:0.246	.	46;236;46	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	W	46;236	ENSP00000305617:R46W;ENSP00000386227:R236W	ENSP00000305617:R46W	R	-	1	2	MCC	112514940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.946000	0.49050	2.739000	0.93911	0.561000	0.74099	CGG		0.413	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		20	57	0	0	0	1	0	20	57				
FLG	2312	broad.mit.edu	37	1	152281985	152281985	+	Missense_Mutation	SNP	G	G	A	rs138288591		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:152281985G>A	ENST00000368799.1	-	3	5412	c.5377C>T	c.(5377-5379)Cgc>Tgc	p.R1793C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1793	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R1793S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCGTGGCGGGATCTTTGT	0.607									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.R1793S(1)	lung(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5377-5379)Cgc>Tgc		filaggrin		G	CYS/ARG	0,4406		0,0,2203	241.0	249.0	247.0		5377	-1.5	0.0	1	dbSNP_134	247	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FLG	NM_002016.1	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1793/4062	152281985	2,13004	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281985G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5377C>T	1.37:g.152281985G>A	ENSP00000357789:p.Arg1793Cys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1793C	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5412	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1793			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5377C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777458	0.31411	0.0	2.33E-4	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01705	4.68	4.33	-1.46	0.08800	.	.	.	.	.	T	0.01661	0.0053	L	0.59436	1.845	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.44498	-0.9324	9	0.51188	T	0.08	-0.002	0.7415	0.00974	0.1923:0.1573:0.3281:0.3222	.	1793	P20930	FILA_HUMAN	C	1793;28	ENSP00000357789:R1793C	ENSP00000271820:R28C	R	-	1	0	FLG	150548609	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.081000	0.01367	-0.042000	0.13535	-0.318000	0.08688	CGC		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		321	253	0	0	0	1	0	321	253				
TDRD1	56165	broad.mit.edu	37	10	115970473	115970473	+	Silent	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:115970473A>G	ENST00000369280.1	+	12	1978	c.1518A>G	c.(1516-1518)ccA>ccG	p.P506P	TDRD1_ENST00000369282.1_Silent_p.P506P|TDRD1_ENST00000251864.2_Silent_p.P506P|TDRD1_ENST00000422662.1_Silent_p.P167P|TDRD1_ENST00000369281.2_Silent_p.P506P			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	506					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTCAAACACCAGAAGACTTCT	0.378																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(1516-1518)ccA>ccG		tudor domain containing 1							114.0	110.0	111.0					10																	115970473		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115970473A>G	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1518A>G	10.37:g.115970473A>G						TDRD1_ENST00000369281.2_Silent_p.P506P|TDRD1_ENST00000369280.1_Silent_p.P506P|TDRD1_ENST00000422662.1_Silent_p.P167P|TDRD1_ENST00000369282.1_Silent_p.P506P	p.P506P	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	12	1671	+		Colorectal(252;0.172)|Breast(234;0.188)	506					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.1518A>G																																																																																					0.378	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			51	62	0	0	0	1	0	51	62				
TP53	7157	broad.mit.edu	37	17	7578266	7578266	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:7578266T>A	ENST00000269305.4	-	6	772	c.583A>T	c.(583-585)Atc>Ttc	p.I195F	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.I195F|TP53_ENST00000359597.4_Missense_Mutation_p.I195F|TP53_ENST00000413465.2_Missense_Mutation_p.I195F|TP53_ENST00000455263.2_Missense_Mutation_p.I195F|TP53_ENST00000420246.2_Missense_Mutation_p.I195F	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> 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.I195F(20)|p.0?(8)|p.?(6)|p.I195fs*14(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102F(1)|p.I195fs*52(1)|p.L194fs*52(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.I102fs*14(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.I195L(1)|p.P98_E105>Q(1)|p.I63F(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(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)	TCCACTCGGATAAGATGCTGA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		60	Substitution - Missense(23)|Whole gene deletion(8)|Deletion - In frame(6)|Insertion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - Frameshift(4)|Complex - frameshift(1)	p.I195F(20)|p.0?(8)|p.?(6)|p.I195fs*14(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102F(1)|p.I195fs*52(1)|p.L194fs*52(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.I102fs*14(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.I195L(1)|p.P98_E105>Q(1)|p.I63F(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(1)	upper_aerodigestive_tract(8)|breast(8)|large_intestine(6)|biliary_tract(5)|skin(5)|lung(5)|oesophagus(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|urinary_tract(2)|liver(2)|stomach(1)|soft_tissue(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						c.(583-585)Atc>Ttc	Other conserved DNA damage response genes	tumor protein p53							99.0	89.0	92.0					17																	7578266		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.chr17:7578266T>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.583A>T	17.37:g.7578266T>A	ENSP00000269305:p.Ile195Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.I195F|TP53_ENST00000269305.4_Missense_Mutation_p.I195F|TP53_ENST00000413465.2_Missense_Mutation_p.I195F|TP53_ENST00000455263.2_Missense_Mutation_p.I195F|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.I195F	p.I195F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	715	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.583A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493726	0.64186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	D	0.000004	D	0.99802	0.9915	M	0.85099	2.735	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.998;0.998;0.997;0.998;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.989;0.955;0.972;0.988;0.99;0.992	D	0.96806	0.9593	10	0.87932	D	0	-18.4587	13.709	0.62656	0.0:0.0:0.0:1.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195F;ENSP00000352610:I195F;ENSP00000269305:I195F;ENSP00000398846:I195F;ENSP00000391127:I195F;ENSP00000391478:I195F;ENSP00000425104:I63F;ENSP00000423862:I102F	ENSP00000269305:I195F	I	-	1	0	TP53	7518991	1.000000	0.71417	0.895000	0.35142	0.030000	0.12068	6.159000	0.71856	2.183000	0.69458	0.533000	0.62120	ATC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		35	65	0	0	0	1	0	35	65				
RNF213	57674	broad.mit.edu	37	17	78317738	78317738	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:78317738C>T	ENST00000582970.1	+	28	6408	c.6265C>T	c.(6265-6267)Cgg>Tgg	p.R2089W	RNF213_ENST00000336301.6_Missense_Mutation_p.R162W|RNF213_ENST00000508628.2_Missense_Mutation_p.R2138W	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2089					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AATGTGGCTTCGGAACCCCTG	0.468																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(6265-6267)Cgg>Tgg		ring finger protein 213							121.0	114.0	117.0					17																	78317738		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78317738C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6265C>T	17.37:g.78317738C>T	ENSP00000464087:p.Arg2089Trp					RNF213_ENST00000336301.6_Missense_Mutation_p.R162W|RNF213_ENST00000508628.2_Missense_Mutation_p.R2138W	p.R2089W	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		28	6408	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.6265C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	8.729	0.916123	0.17907	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.26518	1.73	5.92	5.92	0.95590	.	0.076195	0.56097	D	0.000040	T	0.41119	0.1145	L	0.34521	1.04	0.37125	D	0.900977	D	0.89917	1.0	D	0.72338	0.977	T	0.39502	-0.9611	10	0.87932	D	0	.	15.8693	0.79098	0.1361:0.8639:0.0:0.0	.	162	Q63HN8	RN213_HUMAN	W	2089;2138;162	ENSP00000338218:R162W	ENSP00000338218:R162W	R	+	1	2	RNF213	75932333	0.984000	0.35163	0.890000	0.34922	0.092000	0.18411	2.371000	0.44248	2.808000	0.96608	0.561000	0.74099	CGG		0.468	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		15	148	0	0	0	1	0	15	148				
ZZZ3	26009	broad.mit.edu	37	1	78097599	78097599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:78097599C>A	ENST00000370801.3	-	5	1916	c.1441G>T	c.(1441-1443)Gaa>Taa	p.E481*	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	481					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TCATCATCTTCCTCTTCTGTA	0.403																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(1441-1443)Gaa>Taa		zinc finger, ZZ-type containing 3							146.0	135.0	139.0					1																	78097599		2203	4300	6503	SO:0001587	stop_gained	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78097599C>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1441G>T	1.37:g.78097599C>A	ENSP00000359837:p.Glu481*					ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	p.E481*	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			5	1916	-			481					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Nonsense_Mutation	SNP	ENST00000370801.3	37	c.1441G>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	43	10.290731	0.99377	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.19	5.19	0.71726	.	0.152544	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.6004	0.95559	0.0:1.0:0.0:0.0	.	.	.	.	X	481	.	ENSP00000359837:E481X	E	-	1	0	ZZZ3	77870187	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.382000	0.79729	2.808000	0.96608	0.655000	0.94253	GAA		0.403	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		29	144	1	0	9.80776e-20	1	1.07885e-19	29	144				
TUBB8P7	197331	broad.mit.edu	37	16	90162379	90162379	+	RNA	SNP	A	A	G	rs567541195	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:90162379A>G	ENST00000564451.1	+	0	1732				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGGGAATAATACGGCCATCCA	0.522													.|||	3	0.000599042	0.0	0.0043	5008	,	,		20782	0.0		0.0	False		,,,				2504	0.0					ENST00000564451.1																			0																																																			197331							g.chr16:90162379A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162379A>G						TUBB8P7_ENST00000567960.1_RNA								0	1732	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	187	0	0	0	1	0	4	187				
SERPINA12	145264	broad.mit.edu	37	14	94956065	94956065	+	Silent	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:94956065G>T	ENST00000341228.2	-	5	1740	c.945C>A	c.(943-945)ggC>ggA	p.G315G	SERPINA12_ENST00000556881.1_Silent_p.G315G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	315					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGTCGAAGGTGCCCGTCATGT	0.532																																						ENST00000341228.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(943-945)ggC>ggA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12							140.0	110.0	120.0					14																	94956065		2203	4300	6503	SO:0001819	synonymous_variant	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94956065G>T	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.945C>A	14.37:g.94956065G>T						SERPINA12_ENST00000556881.1_Silent_p.G315G	p.G315G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	5	1740	-			315						Silent	SNP	ENST00000341228.2	37	c.945C>A	CCDS9926.1																																																																																				0.532	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		28	67	1	0	3.57733e-08	1	3.77012e-08	28	67				
ITPR2	3709	broad.mit.edu	37	12	26551955	26551955	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:26551955C>T	ENST00000381340.3	-	54	7966	c.7550G>A	c.(7549-7551)cGa>cAa	p.R2517Q	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2517					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ATAAACCACTCGGGCAGCAAA	0.333																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7549-7551)cGa>cAa		inositol 1,4,5-trisphosphate receptor, type 2							42.0	37.0	38.0					12																	26551955		1802	4070	5872	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26551955C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7550G>A	12.37:g.26551955C>T	ENSP00000370744:p.Arg2517Gln					RP11-513G19.1_ENST00000535324.1_RNA	p.R2517Q	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			54	7966	-	Colorectal(261;0.0847)		2517					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.7550G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308882	0.95629	.	.	ENSG00000123104	ENST00000381340	D	0.98474	-4.95	4.96	4.96	0.65561	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.99245	0.9737	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99066	1.0832	10	0.87932	D	0	.	18.4021	0.90520	0.0:1.0:0.0:0.0	.	2517	Q14571	ITPR2_HUMAN	Q	2517	ENSP00000370744:R2517Q	ENSP00000370744:R2517Q	R	-	2	0	ITPR2	26443222	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.549000	0.82163	2.567000	0.86603	0.603000	0.83216	CGA		0.333	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		16	53	0	0	0	1	0	16	53				
KIAA0753	9851	broad.mit.edu	37	17	6538401	6538401	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:6538401G>A	ENST00000361413.3	-	2	381	c.23C>T	c.(22-24)tCa>tTa	p.S8L	KIAA0753_ENST00000572370.1_Intron|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	8						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		AACACAGGTTGAAGCTGGCTG	0.463																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(22-24)tCa>tTa		KIAA0753							93.0	89.0	91.0					17																	6538401		1981	4147	6128	SO:0001583	missense	9851					centrosome		g.chr17:6538401G>A		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.23C>T	17.37:g.6538401G>A	ENSP00000355250:p.Ser8Leu					KIAA0753_ENST00000572370.1_Intron|KIAA0753_ENST00000542606.1_5'UTR	p.S8L	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	2	381	-			8					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.23C>T	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155718	0.57259	.	.	ENSG00000198920	ENST00000361413	T	0.08546	3.08	4.01	4.01	0.46588	.	0.743369	0.11541	N	0.553723	T	0.09686	0.0238	L	0.55481	1.735	0.46478	D	0.999061	P	0.40731	0.728	B	0.41174	0.349	T	0.08953	-1.0697	10	0.02654	T	1	-2.1697	12.3753	0.55277	0.0:0.0:1.0:0.0	.	8	Q2KHM9	K0753_HUMAN	L	8	ENSP00000355250:S8L	ENSP00000355250:S8L	S	-	2	0	KIAA0753	6479125	0.215000	0.23574	0.047000	0.18901	0.387000	0.30353	3.227000	0.51262	2.175000	0.68902	0.462000	0.41574	TCA		0.463	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		53	102	0	0	0	1	0	53	102				
KIAA1551	55196	broad.mit.edu	37	12	32138718	32138718	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:32138718A>G	ENST00000312561.4	+	4	5243	c.4829A>G	c.(4828-4830)gAt>gGt	p.D1610G	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1610																	CTTCATAAAGATAAGAGACAG	0.333																																						ENST00000312561.4																			0											c.(4828-4830)gAt>gGt		KIAA1551							61.0	66.0	64.0					12																	32138718		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32138718A>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4829A>G	12.37:g.32138718A>G	ENSP00000310338:p.Asp1610Gly					KIAA1551_ENST00000535596.1_Intron	p.D1610G	NM_018169.3	NP_060639.3					4	5243	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.4829A>G	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	13.42	2.231761	0.39399	.	.	ENSG00000174718	ENST00000312561	T	0.11821	2.74	5.2	-3.17	0.05202	.	2.054810	0.02106	N	0.054416	T	0.06690	0.0171	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28364	-1.0046	9	.	.	.	.	1.3271	0.02128	0.3077:0.118:0.3462:0.2281	.	1610	Q9HCM1	CL035_HUMAN	G	1610	ENSP00000310338:D1610G	.	D	+	2	0	C12orf35	32029985	0.324000	0.24652	0.000000	0.03702	0.540000	0.34992	0.866000	0.27954	0.002000	0.14630	0.455000	0.32223	GAT		0.333	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		55	55	0	0	0	1	0	55	55				
PI3	5266	broad.mit.edu	37	20	43803615	43803615	+	Silent	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:43803615C>T	ENST00000243924.3	+	1	99	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	18					copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CGCTGGGACGCTGGTTCTAGA	0.572																																						ENST00000243924.3																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(52-54)Ctg>Ttg		peptidase inhibitor 3, skin-derived							172.0	131.0	145.0					20																	43803615		2203	4300	6503	SO:0001819	synonymous_variant	5266				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	g.chr20:43803615C>T	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"""WAP four-disulfide core domain containing"""	8947	protein-coding gene	gene with protein product	"""skin-derived antileukoproteinase"", ""trappin-2"""	182257	"""protease inhibitor 3, skin-derived (SKALP)"""			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.52C>T	20.37:g.43803615C>T							p.L18L	NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN			1	99	+		Myeloproliferative disorder(115;0.0122)	18					E1P618|Q6FG74	Silent	SNP	ENST00000243924.3	37	c.52C>T	CCDS13344.1																																																																																				0.572	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638		26	60	0	0	0	1	0	26	60				
RP1-241P17.4	0	broad.mit.edu	37	X	114953364	114953364	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chrX:114953364G>A	ENST00000449327.1	-	1	305	c.186C>T	c.(184-186)ttC>ttT	p.F62F																								GTTGCCCGTCGAATCGGAATC	0.443													G|||	1	0.000264901	0.0008	0.0	3775	,	,		14479	0.0		0.0	False		,,,				2504	0.0					ENST00000449327.1																			0											c.(184-186)ttC>ttT																																						SO:0001819	synonymous_variant	0							g.chrX:114953364G>A																												ENST00000449327.1:c.186C>T	X.37:g.114953364G>A							p.F62F							1	305	-									Silent	SNP	ENST00000449327.1	37	c.186C>T																																																																																					0.443	RP1-241P17.4-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000057980.1			8	110	0	0	0	1	0	8	110				
ZNF792	126375	broad.mit.edu	37	19	35449245	35449245	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:35449245G>A	ENST00000404801.1	-	4	1900	c.1514C>T	c.(1513-1515)cCt>cTt	p.P505L	ZNF792_ENST00000605484.1_Missense_Mutation_p.P438L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCACTGGTAAGGCCGTTCACC	0.512																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(1513-1515)cCt>cTt		zinc finger protein 792							66.0	59.0	61.0					19																	35449245		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449245G>A	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1514C>T	19.37:g.35449245G>A	ENSP00000385099:p.Pro505Leu					ZNF792_ENST00000605484.1_Missense_Mutation_p.P438L	p.P505L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	1900	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		505					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.1514C>T	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	g	19.62	3.862201	0.71949	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.27557	1.66	2.6	2.6	0.31112	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49440	0.1557	M	0.64997	1.995	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.53279	-0.8461	9	0.72032	D	0.01	.	11.3758	0.49726	0.0:0.0:1.0:0.0	.	505	Q3KQV3	ZN792_HUMAN	L	505;265	ENSP00000385099:P505L	ENSP00000368487:P265L	P	-	2	0	ZNF792	40141085	1.000000	0.71417	0.514000	0.27761	0.982000	0.71751	8.498000	0.90492	1.786000	0.52430	0.563000	0.77884	CCT		0.512	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		40	29	0	0	0	1	0	40	29				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	75	0	0	0	1	0	3	75				
SCAMP3	10067	broad.mit.edu	37	1	155226544	155226544	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:155226544G>A	ENST00000302631.3	-	8	925	c.818C>T	c.(817-819)aCa>aTa	p.T273I	SCAMP3_ENST00000472397.1_5'UTR|FAM189B_ENST00000350210.2_5'Flank|SCAMP3_ENST00000355379.3_Missense_Mutation_p.T247I|FAM189B_ENST00000361361.2_5'Flank|FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000368368.3_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	273					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGATACTGCTGTGTTGCCCTT	0.557																																						ENST00000355379.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19						c.(739-741)aCa>aTa		secretory carrier membrane protein 3							100.0	76.0	84.0					1																	155226544		2203	4300	6503	SO:0001583	missense	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155226544G>A	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.818C>T	1.37:g.155226544G>A	ENSP00000307275:p.Thr273Ile					SCAMP3_ENST00000302631.3_Missense_Mutation_p.T273I|SCAMP3_ENST00000472397.1_5'UTR	p.T247I	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		7	1018	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		273					A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	37	c.740C>T	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	.	0.946	-0.708100	0.03230	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.16196	2.36;2.36	5.21	1.06	0.20224	.	1.032170	0.07642	N	0.930431	T	0.00608	0.0020	N	0.00075	-2.25	0.09310	N	1	B;B;B	0.14012	0.0;0.0;0.009	B;B;B	0.14023	0.002;0.002;0.01	T	0.47573	-0.9107	10	0.05351	T	0.99	-12.8359	5.1265	0.14888	0.0792:0.4083:0.3727:0.1399	.	273;247;273	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	I	273;247	ENSP00000307275:T273I;ENSP00000347540:T247I	ENSP00000307275:T273I	T	-	2	0	SCAMP3	153493168	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	1.186000	0.32078	0.046000	0.15833	0.561000	0.74099	ACA		0.557	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		40	33	0	0	0	1	0	40	33				
OR4M1	441670	broad.mit.edu	37	14	20248621	20248621	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:20248621G>T	ENST00000315957.4	+	1	221	c.140G>T	c.(139-141)tGc>tTc	p.C47F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTATCATTTGCACCATCAGG	0.433																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(139-141)tGc>tTc		olfactory receptor, family 4, subfamily M, member 1							290.0	305.0	300.0					14																	20248621		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248621G>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.140G>T	14.37:g.20248621G>T	ENSP00000319654:p.Cys47Phe						p.C47F	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	221	+	all_cancers(95;0.00108)		47					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.140G>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	6.149	0.395641	0.11638	.	.	ENSG00000176299	ENST00000315957	T	0.01043	5.41	4.2	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.275476	0.26474	N	0.024176	T	0.00608	0.0020	N	0.01640	-0.785	0.32070	N	0.594542	B	0.02656	0.0	B	0.01281	0.0	T	0.29792	-1.0000	10	0.46703	T	0.11	-4.0586	9.1924	0.37207	0.0:0.0:0.4758:0.5242	.	47	Q8NGD0	OR4M1_HUMAN	F	47	ENSP00000319654:C47F	ENSP00000319654:C47F	C	+	2	0	OR4M1	19318461	0.000000	0.05858	1.000000	0.80357	0.747000	0.42532	0.225000	0.17757	1.044000	0.40200	0.401000	0.26515	TGC		0.433	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			59	195	1	0	4.09106e-26	1	4.61556e-26	59	195				
VEPH1	79674	broad.mit.edu	37	3	156979061	156979061	+	Silent	SNP	G	G	A	rs527392367		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:156979061G>A	ENST00000362010.2	-	14	2671	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Silent_p.F743F|VEPH1_ENST00000392833.2_Silent_p.F743F|VEPH1_ENST00000392832.2_Silent_p.F788F|RP11-550I24.2_ENST00000475102.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	788	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGAAGATTTCGAAAGCCCGGG	0.502													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17284	0.0		0.0	False		,,,				2504	0.0					ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2362-2364)ttC>ttT		ventricular zone expressed PH domain-containing 1							87.0	86.0	86.0					3																	156979061		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:156979061G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2364C>T	3.37:g.156979061G>A						VEPH1_ENST00000543418.1_Silent_p.F743F|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Silent_p.F788F|VEPH1_ENST00000392833.2_Silent_p.F743F	p.F788F	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		14	2671	-			788			PH.		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.2364C>T	CCDS3179.1																																																																																				0.502	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		33	66	0	0	0	1	0	33	66				
ZNF775	285971	broad.mit.edu	37	7	150093929	150093929	+	Silent	SNP	G	G	A	rs377155143		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr7:150093929G>A	ENST00000329630.5	+	3	467	c.360G>A	c.(358-360)tcG>tcA	p.S120S		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGGTGGTCGTCCCTGAAGA	0.672																																						ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(358-360)tcG>tcA		zinc finger protein 775		G		1,4351		0,1,2175	14.0	19.0	17.0		360	0.4	1.0	7		17	0,8572		0,0,4286	no	coding-synonymous	ZNF775	NM_173680.3		0,1,6461	AA,AG,GG		0.0,0.023,0.0077		120/538	150093929	1,12923	2176	4286	6462	SO:0001819	synonymous_variant	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150093929G>A	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.360G>A	7.37:g.150093929G>A							p.S120S	NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	467	+	Ovarian(565;0.183)|Melanoma(164;0.226)		120					Q8IY24	Silent	SNP	ENST00000329630.5	37	c.360G>A	CCDS43678.1																																																																																				0.672	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		5	32	0	0	0	1	0	5	32				
HIVEP1	3096	broad.mit.edu	37	6	12120177	12120177	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:12120177G>C	ENST00000379388.2	+	4	481	c.149G>C	c.(148-150)cGc>cCc	p.R50P		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	50					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGTGTGAAACGCAAAAAGATC	0.363																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(148-150)cGc>cCc		human immunodeficiency virus type I enhancer binding protein 1							161.0	146.0	150.0					6																	12120177		1855	4085	5940	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12120177G>C	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.149G>C	6.37:g.12120177G>C	ENSP00000368698:p.Arg50Pro						p.R50P	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	481	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	50					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.149G>C	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301328	0.81136	.	.	ENSG00000095951	ENST00000491710;ENST00000487103;ENST00000379388;ENST00000478545	T	0.23147	1.92	5.79	5.79	0.91817	.	0.000000	0.31051	N	0.008360	T	0.49541	0.1563	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51834	-0.8655	10	0.87932	D	0	-22.2659	20.04	0.97581	0.0:0.0:1.0:0.0	.	50	P15822	ZEP1_HUMAN	P	50	ENSP00000368698:R50P	ENSP00000368698:R50P	R	+	2	0	HIVEP1	12228163	1.000000	0.71417	0.975000	0.42487	0.787000	0.44495	9.434000	0.97515	2.733000	0.93635	0.655000	0.94253	CGC		0.363	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		72	379	0	0	0	1	0	72	379				
MARCH3	115123	broad.mit.edu	37	5	126206380	126206380	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:126206380G>A	ENST00000308660.5	-	5	1221	c.707C>T	c.(706-708)cCg>cTg	p.P236L		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	236					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		CAGCAAGGACGGCTGGTTAGA	0.463																																						ENST00000308660.5																			0				large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(706-708)cCg>cTg		membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase							126.0	112.0	116.0					5																	126206380		2203	4300	6503	SO:0001583	missense	115123				endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding	g.chr5:126206380G>A	AF055007	CCDS4141.1	5q23.2	2013-01-09	2012-02-23		ENSG00000173926	ENSG00000173926		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28728	protein-coding gene	gene with protein product		613333	"""membrane-associated ring finger (C3HC4) 3"""			14722266, 8619474	Standard	NM_178450		Approved	MGC48332, MARCH-III, RNF173	uc003kuf.4	Q86UD3	OTTHUMG00000128968	ENST00000308660.5:c.707C>T	5.37:g.126206380G>A	ENSP00000309141:p.Pro236Leu						p.P236L	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)	5	1221	-		Prostate(80;0.0928)	236					A8K264|B9EJE7	Missense_Mutation	SNP	ENST00000308660.5	37	c.707C>T	CCDS4141.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036110	0.35893	.	.	ENSG00000173926	ENST00000308660	T	0.16597	2.33	4.67	3.51	0.40186	.	0.086607	0.49916	D	0.000135	T	0.13798	0.0334	L	0.36672	1.1	0.80722	D	1	B	0.23891	0.093	B	0.15870	0.014	T	0.05451	-1.0884	10	0.37606	T	0.19	-4.6627	12.5025	0.55964	0.0:0.0:0.1402:0.8598	.	236	Q86UD3	MARH3_HUMAN	L	236	ENSP00000309141:P236L	ENSP00000309141:P236L	P	-	2	0	MARCH3	126234279	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.583000	0.53928	1.113000	0.41760	-0.264000	0.10439	CCG		0.463	MARCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250955.2	NM_178450		33	44	0	0	0	1	0	33	44				
LAMB1	3912	broad.mit.edu	37	7	107638831	107638831	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr7:107638831C>T	ENST00000222399.6	-	4	550	c.320G>A	c.(319-321)cGc>cAc	p.R107H	LAMB1_ENST00000393561.1_Missense_Mutation_p.R131H|LAMB1_ENST00000393560.1_Missense_Mutation_p.R107H|U3_ENST00000458938.1_RNA	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	107	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.R107H(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AATCTTAAGGCGGTTTGGAGC	0.433																																						ENST00000393561.1																			1	Substitution - Missense(1)	p.R107H(1)	endometrium(1)	NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(391-393)cGc>cAc		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						169.0	139.0	149.0					7																	107638831		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107638831C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.320G>A	7.37:g.107638831C>T	ENSP00000222399:p.Arg107His					LAMB1_ENST00000393560.1_Missense_Mutation_p.R107H|LAMB1_ENST00000222399.6_Missense_Mutation_p.R107H	p.R131H			P07942	LAMB1_HUMAN			2	576	-			107			Laminin N-terminal.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.392G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	36	5.856960	0.97030	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.76316	-1.01;-1.01;-1.01	5.93	5.93	0.95920	Laminin, N-terminal (3);	.	.	.	.	D	0.87970	0.6312	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;0.993;1.0	D	0.87307	0.2309	9	0.59425	D	0.04	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	107;107;131	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	H	131;107;107	ENSP00000377191:R131H;ENSP00000222399:R107H;ENSP00000377190:R107H	ENSP00000222399:R107H	R	-	2	0	LAMB1	107426067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.814000	0.96858	0.655000	0.94253	CGC		0.433	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		55	138	0	0	0	1	0	55	138				
HTR5A	3361	broad.mit.edu	37	7	154862765	154862765	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr7:154862765G>A	ENST00000287907.2	+	1	732	c.156G>A	c.(154-156)gcG>gcA	p.A52A	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_Silent_p.A83A|HTR5A-AS1_ENST00000395731.2_Silent_p.A83A	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	52					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TTCTGGTGGCGGCGACGTTCG	0.647																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(154-156)gcG>gcA		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							94.0	74.0	80.0					7																	154862765		2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862765G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.156G>A	7.37:g.154862765G>A						AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Silent_p.A83A|AC093726.4_ENST00000395731.2_Silent_p.A83A	p.A52A	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	732	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	52					Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.156G>A	CCDS5936.1																																																																																				0.647	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		33	53	0	0	0	1	0	33	53				
TRAF3IP2	10758	broad.mit.edu	37	6	111912799	111912799	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:111912799G>C	ENST00000340026.6	-	3	1112	c.518C>G	c.(517-519)cCt>cGt	p.P173R	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.P164R|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P164R			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	173	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TGAGGCATTAGGTAAACTTTG	0.517																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(490-492)cCt>cGt		TRAF3 interacting protein 2							59.0	56.0	57.0					6																	111912799		2203	4300	6503	SO:0001583	missense	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111912799G>C	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.518C>G	6.37:g.111912799G>C	ENSP00000345984:p.Pro173Arg					TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.P173R|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P164R|TRAF3IP2_ENST00000392556.4_5'UTR	p.P164R	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	2	969	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	173					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37	c.491C>G		.	.	.	.	.	.	.	.	.	.	G	17.62	3.435229	0.62955	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.32515	1.46;1.46;1.45	5.73	4.86	0.63082	.	0.341510	0.28803	N	0.014086	T	0.34164	0.0888	M	0.64997	1.995	0.80722	D	1	D;D;D	0.67145	0.994;0.996;0.994	P;P;P	0.59889	0.737;0.865;0.737	T	0.28073	-1.0055	10	0.72032	D	0.01	-14.3848	9.4388	0.38655	0.0733:0.0:0.7847:0.142	.	173;164;164	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	R	173;164;173;164	ENSP00000357750:P164R;ENSP00000345984:P173R;ENSP00000352889:P164R	ENSP00000345984:P173R	P	-	2	0	TRAF3IP2	112019492	0.994000	0.37717	0.863000	0.33907	0.982000	0.71751	2.083000	0.41615	1.416000	0.47057	0.555000	0.69702	CCT		0.517	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			5	136	0	0	0	1	0	5	136				
MLH3	27030	broad.mit.edu	37	14	75485569	75485569	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:75485569G>C	ENST00000556740.1	-	11	4240	c.4205C>G	c.(4204-4206)cCg>cGg	p.P1402R	MLH3_ENST00000380968.2_Missense_Mutation_p.P340R|RNU6-689P_ENST00000384197.1_RNA|MLH3_ENST00000556257.1_Missense_Mutation_p.P1224R|MLH3_ENST00000355774.2_Missense_Mutation_p.P1402R|MLH3_ENST00000238662.7_Missense_Mutation_p.P1378R			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1402					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.P1378R(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GTCAGCTAACGGCAGCATAGA	0.468								Mismatch excision repair (MMR)																														ENST00000355774.2																			1	Substitution - Missense(1)	p.P1378R(1)	upper_aerodigestive_tract(1)	breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(4204-4206)cCg>cGg	Mismatch excision repair (MMR)	mutL homolog 3							122.0	111.0	115.0					14																	75485569		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75485569G>C	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.4205C>G	14.37:g.75485569G>C	ENSP00000452316:p.Pro1402Arg					MLH3_ENST00000556257.1_Missense_Mutation_p.P1224R|MLH3_ENST00000380968.2_Missense_Mutation_p.P340R|MLH3_ENST00000238662.7_Missense_Mutation_p.P1378R|MLH3_ENST00000556740.1_Missense_Mutation_p.P1402R	p.P1402R	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	12	4420	-			1402					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.4205C>G	CCDS32123.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.73|19.73	3.881528|3.881528	0.72294|0.72294	.|.	.|.	ENSG00000119684|ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556257;ENST00000556740|ENST00000553713	T;T;T;T;T|.	0.76578|.	-1.03;-1.03;-1.03;-1.03;-1.03|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73102|0.73102	0.3544|0.3544	L|L	0.58354|0.58354	1.805|1.805	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.69702|0.69702	-0.5074|-0.5074	10|5	0.66056|.	D|.	0.02|.	-9.1121|-9.1121	19.5283|19.5283	0.95215|0.95215	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1378;1402|.	Q9UHC1-2;Q9UHC1|.	.;MLH3_HUMAN|.	R|G	1402;340;1378;1224;1402|426	ENSP00000348020:P1402R;ENSP00000370355:P340R;ENSP00000238662:P1378R;ENSP00000451540:P1224R;ENSP00000452316:P1402R|.	ENSP00000238662:P1378R|.	P|R	-|-	2|1	0|0	MLH3|MLH3	74555322|74555322	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.408000|0.408000	0.30992|0.30992	9.186000|9.186000	0.94906|0.94906	2.596000|2.596000	0.87737|0.87737	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.468	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		17	120	0	0	0	1	0	17	120				
FNBP4	23360	broad.mit.edu	37	11	47754119	47754119	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr11:47754119G>A	ENST00000263773.5	-	11	1802	c.1790C>T	c.(1789-1791)aCt>aTt	p.T597I	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	597	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.					nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCCTTTAGGAGTGGCGTTTAT	0.468																																						ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(1789-1791)aCt>aTt		formin binding protein 4							231.0	242.0	238.0					11																	47754119		2034	4179	6213	SO:0001583	missense	23360							g.chr11:47754119G>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1790C>T	11.37:g.47754119G>A	ENSP00000263773:p.Thr597Ile					FNBP4_ENST00000534003.1_5'UTR	p.T597I	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			11	1802	-			597			WW 2.		Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.1790C>T	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214746	0.79352	.	.	ENSG00000109920	ENST00000263773	T	0.40756	1.02	5.78	5.78	0.91487	WW/Rsp5/WWP (3);	0.000000	0.85682	D	0.000000	T	0.56877	0.2015	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.56673	-0.7940	10	0.66056	D	0.02	-19.6441	20.0108	0.97448	0.0:0.0:1.0:0.0	.	597	Q8N3X1	FNBP4_HUMAN	I	597	ENSP00000263773:T597I	ENSP00000263773:T597I	T	-	2	0	FNBP4	47710695	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.869000	0.99810	2.738000	0.93877	0.591000	0.81541	ACT		0.468	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			81	54	0	0	0	1	0	81	54				
DPP10	57628	broad.mit.edu	37	2	116257182	116257182	+	Splice_Site	SNP	T	T	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:116257182T>A	ENST00000410059.1	+	4	846		c.e4+2		DPP10_ENST00000409163.1_Splice_Site|DPP10_ENST00000310323.8_Splice_Site|DPP10_ENST00000393147.2_Splice_Site|DPP10_ENST00000488208.1_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)							integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACAACTTTTGTAAGTAATGAA	0.313																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.e4+2		dipeptidyl-peptidase 10 (non-functional)							84.0	83.0	83.0					2																	116257182		2202	4297	6499	SO:0001630	splice_region_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116257182T>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.366+2T>A	2.37:g.116257182T>A						DPP10_ENST00000409163.1_Splice_Site|DPP10_ENST00000310323.8_Splice_Site|DPP10_ENST00000393147.2_Splice_Site|DPP10_ENST00000488208.1_Splice_Site		NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			4	846	+								A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Splice_Site	SNP	ENST00000410059.1	37		CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932455	0.73442	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1696	0.59591	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP10	115973652	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.132000	0.64758	2.238000	0.73509	0.533000	0.62120	.		0.313	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	Intron	11	123	0	0	0	1	0	11	123				
SPIDR	23514	broad.mit.edu	37	8	48309052	48309052	+	Silent	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:48309052G>C	ENST00000297423.4	+	6	1026	c.642G>C	c.(640-642)tcG>tcC	p.S214S	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Silent_p.S144S|SPIDR_ENST00000518074.1_Silent_p.S154S	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	214	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											AGTTTGCATCGGATGCAAGAC	0.398																																						ENST00000297423.4																			0											c.(640-642)tcG>tcC		scaffolding protein involved in DNA repair							127.0	122.0	123.0					8																	48309052		1888	4124	6012	SO:0001819	synonymous_variant	23514							g.chr8:48309052G>C	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.642G>C	8.37:g.48309052G>C						SPIDR_ENST00000541342.1_Silent_p.S144S|SPIDR_ENST00000518074.1_Silent_p.S154S|SPIDR_ENST00000521214.1_3'UTR	p.S214S	NM_001080394.2	NP_001073863.1					6	1026	+								B4DFV2|B4E0Y6|Q96BI5	Silent	SNP	ENST00000297423.4	37	c.642G>C	CCDS43737.1																																																																																				0.398	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		75	185	0	0	0	1	0	75	185				
ZBTB11	27107	broad.mit.edu	37	3	101383452	101383452	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:101383452A>T	ENST00000312938.4	-	5	2310	c.1730T>A	c.(1729-1731)gTt>gAt	p.V577D	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTCTGAAAAACCATTCCACA	0.363																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1729-1731)gTt>gAt		zinc finger and BTB domain containing 11							254.0	238.0	243.0					3																	101383452		2202	4300	6502	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101383452A>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1730T>A	3.37:g.101383452A>T	ENSP00000326200:p.Val577Asp						p.V577D	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			5	2310	-			577					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.1730T>A	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.611934	0.28712	.	.	ENSG00000066422	ENST00000312938	T	0.53206	0.63	5.69	4.42	0.53409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.346769	0.31347	N	0.007815	T	0.35219	0.0924	N	0.26092	0.79	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.16482	-1.0401	10	0.45353	T	0.12	-2.8098	13.1308	0.59380	0.8723:0.0:0.0:0.1277	.	577	O95625	ZBT11_HUMAN	D	577	ENSP00000326200:V577D	ENSP00000326200:V577D	V	-	2	0	ZBTB11	102866142	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.689000	0.61723	2.168000	0.68352	0.533000	0.62120	GTT		0.363	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		12	238	0	0	0	1	0	12	238				
NAGLU	4669	broad.mit.edu	37	17	40696000	40696000	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:40696000C>T	ENST00000225927.2	+	6	2077	c.1976C>T	c.(1975-1977)gCc>gTc	p.A659V	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	659					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTGGACTATGCCAACAAGCAG	0.622																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(1975-1977)gCc>gTc		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						36.0	29.0	31.0					17																	40696000		2203	4300	6503	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40696000C>T		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1976C>T	17.37:g.40696000C>T	ENSP00000225927:p.Ala659Val					RP11-400F19.8_ENST00000585572.1_RNA	p.A659V	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	2077	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	659						Missense_Mutation	SNP	ENST00000225927.2	37	c.1976C>T	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321508	0.81580	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.99578	-6.21	4.54	4.54	0.55810	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97282	0.9918	10	0.87932	D	0	-27.8012	16.4047	0.83654	0.0:1.0:0.0:0.0	.	659	P54802	ANAG_HUMAN	V	659;335	ENSP00000225927:A659V	ENSP00000225927:A659V	A	+	2	0	NAGLU	37949526	1.000000	0.71417	0.990000	0.47175	0.588000	0.36517	7.518000	0.81795	2.524000	0.85096	0.561000	0.74099	GCC		0.622	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		3	24	0	0	0	1	0	3	24				
CAPN5	726	broad.mit.edu	37	11	76834877	76834877	+	Silent	SNP	C	C	T	rs200719609		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr11:76834877C>T	ENST00000278559.3	+	13	2073	c.1884C>T	c.(1882-1884)gcC>gcT	p.A628A	CAPN5_ENST00000531028.1_3'UTR|CAPN5_ENST00000529629.1_Silent_p.A628A|CAPN5_ENST00000456580.2_Silent_p.A668A	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	628					proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GCACTGTGGCCGTGCACATTC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18091	0.0		0.0	False		,,,				2504	0.0					ENST00000278559.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						c.(1882-1884)gcC>gcT		calpain 5							92.0	76.0	82.0					11																	76834877		2200	4292	6492	SO:0001819	synonymous_variant	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76834877C>T		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1884C>T	11.37:g.76834877C>T						CAPN5_ENST00000531028.1_3'UTR|CAPN5_ENST00000456580.2_Silent_p.A668A|CAPN5_ENST00000529629.1_Silent_p.A628A	p.A628A	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN			13	2073	+			628					O00263	Silent	SNP	ENST00000278559.3	37	c.1884C>T	CCDS8248.1																																																																																				0.637	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		35	47	0	0	0	1	0	35	47				
ABCC4	10257	broad.mit.edu	37	13	95858863	95858863	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr13:95858863G>A	ENST00000376887.4	-	8	1198	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	ABCC4_ENST00000412704.1_Missense_Mutation_p.R362W|ABCC4_ENST00000536256.1_Missense_Mutation_p.R287W|ABCC4_ENST00000431522.1_Missense_Mutation_p.R362W|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	362	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	ACCGTCAGCCGCACAGCCCCA	0.547																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1084-1086)Cgg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						101.0	87.0	92.0					13																	95858863		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95858863G>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1084C>T	13.37:g.95858863G>A	ENSP00000366084:p.Arg362Trp					ABCC4_ENST00000412704.1_Missense_Mutation_p.R362W|ABCC4_ENST00000431522.1_Missense_Mutation_p.R362W|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.R287W	p.R362W	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			8	1198	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		362			ABC transmembrane type-1 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.1084C>T	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552383	0.45487	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.94417	-2.89;-2.89;-3.42;-2.89	5.34	4.4	0.53042	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	H	0.96365	3.81	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.979;0.995;0.995	D	0.98402	1.0568	10	0.87932	D	0	.	12.6585	0.56801	0.0:0.0:0.7207:0.2793	.	287;362;362;362;362	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	W	362;362;287;362	ENSP00000388657:R362W;ENSP00000366084:R362W;ENSP00000442024:R287W;ENSP00000398562:R362W	ENSP00000366084:R362W	R	-	1	2	ABCC4	94656864	0.853000	0.29707	0.994000	0.49952	0.094000	0.18550	1.181000	0.32017	2.471000	0.83476	0.655000	0.94253	CGG		0.547	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		4	125	0	0	0	1	0	4	125				
MAP2	4133	broad.mit.edu	37	2	210574887	210574887	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:210574887G>A	ENST00000360351.4	+	12	5488	c.4982G>A	c.(4981-4983)cGg>cAg	p.R1661Q	MAP2_ENST00000447185.1_Missense_Mutation_p.R1657Q|MAP2_ENST00000392194.1_Missense_Mutation_p.R305Q|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000361559.4_Missense_Mutation_p.R305Q|MAP2_ENST00000199940.6_Missense_Mutation_p.R362Q	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1661					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAGCAGCTTCGGCTTATTAAC	0.493																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(4981-4983)cGg>cAg		microtubule-associated protein 2	Estramustine(DB01196)						76.0	65.0	69.0					2																	210574887		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210574887G>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4982G>A	2.37:g.210574887G>A	ENSP00000353508:p.Arg1661Gln					MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Missense_Mutation_p.R1657Q|MAP2_ENST00000199940.6_Missense_Mutation_p.R362Q|MAP2_ENST00000392194.1_Missense_Mutation_p.R305Q|MAP2_ENST00000361559.4_Missense_Mutation_p.R305Q	p.R1661Q	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	5488	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1661					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.4982G>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399641	0.62177	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96	5.6	5.6	0.85130	.	0.000000	0.51477	D	0.000095	D	0.92747	0.7694	L	0.35414	1.06	0.53688	D	0.999975	D;D;D;D;P	0.89917	1.0;0.998;0.999;0.998;0.776	D;P;D;D;B	0.85130	0.997;0.852;0.986;0.947;0.312	D	0.87466	0.2411	10	0.02654	T	1	-3.8948	19.6088	0.95594	0.0:0.0:1.0:0.0	.	1657;305;306;1661;362	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	Q	362;1661;305;305;1657	ENSP00000199940:R362Q;ENSP00000353508:R1661Q;ENSP00000355290:R305Q;ENSP00000376032:R305Q;ENSP00000392164:R1657Q	ENSP00000199940:R362Q	R	+	2	0	MAP2	210283132	1.000000	0.71417	1.000000	0.80357	0.208000	0.24298	5.187000	0.65087	2.636000	0.89361	0.467000	0.42956	CGG		0.493	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		12	30	0	0	0	1	0	12	30				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	211	0	0	0	1	0	5	211				
KLF5	688	broad.mit.edu	37	13	73636162	73636162	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr13:73636162A>G	ENST00000377687.4	+	2	961	c.425A>G	c.(424-426)gAc>gGc	p.D142G	KLF5_ENST00000539231.1_Missense_Mutation_p.D51G|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	142					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TTCCTCCCTGACATCACTCAC	0.473																																						ENST00000377687.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(424-426)gAc>gGc		Kruppel-like factor 5 (intestinal)							188.0	159.0	169.0					13																	73636162		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636162A>G	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.425A>G	13.37:g.73636162A>G	ENSP00000366915:p.Asp142Gly					KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.D51G	p.D142G	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	961	+		Prostate(6;0.00187)|Breast(118;0.0735)	142					L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.425A>G	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488248	0.64074	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.12879	2.8;2.64	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.25121	0.0610	L	0.52126	1.63	0.54753	D	0.999988	D	0.56968	0.978	P	0.52957	0.714	T	0.00277	-1.1854	10	0.49607	T	0.09	.	16.4069	0.83677	1.0:0.0:0.0:0.0	.	142	Q13887	KLF5_HUMAN	G	51;142;122	ENSP00000440407:D51G;ENSP00000366915:D142G	ENSP00000366915:D142G	D	+	2	0	KLF5	72534163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.991000	0.63883	2.272000	0.75746	0.460000	0.39030	GAC		0.473	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			49	340	0	0	0	1	0	49	340				
PKN1	5585	broad.mit.edu	37	19	14580993	14580993	+	Missense_Mutation	SNP	G	G	A	rs200545401		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:14580993G>A	ENST00000242783.6	+	19	2477	c.2312G>A	c.(2311-2313)cGg>cAg	p.R771Q	PKN1_ENST00000342216.4_Missense_Mutation_p.R777Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	771	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TATGGGGACCGGACCAGCACA	0.642																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2311-2313)cGg>cAg		protein kinase N1		G	GLN/ARG,GLN/ARG	0,4394		0,0,2197	70.0	77.0	75.0		2312,2330	3.0	1.0	19		75	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PKN1	NM_002741.3,NM_213560.1	43,43	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	771/943,777/949	14580993	1,12993	2197	4300	6497	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14580993G>A	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2312G>A	19.37:g.14580993G>A	ENSP00000242783:p.Arg771Gln					PKN1_ENST00000342216.4_Missense_Mutation_p.R777Q	p.R771Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			19	2477	+			771			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.2312G>A	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656443	0.67586	0.0	1.16E-4	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.65549	-0.16;-0.16	4.06	3.02	0.34903	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000010	T	0.50103	0.1596	L	0.37850	1.14	0.39113	D	0.961511	P;P	0.51537	0.933;0.946	B;B	0.42087	0.258;0.375	T	0.56547	-0.7961	10	0.66056	D	0.02	-28.3794	9.7284	0.40346	0.1049:0.0:0.8951:0.0	.	777;771	Q16512-2;Q16512	.;PKN1_HUMAN	Q	771;777	ENSP00000242783:R771Q;ENSP00000343325:R777Q	ENSP00000242783:R771Q	R	+	2	0	PKN1	14441993	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	9.500000	0.97977	1.054000	0.40438	0.491000	0.48974	CGG		0.642	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		4	56	0	0	0	1	0	4	56				
DNAH9	1770	broad.mit.edu	37	17	11513834	11513834	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:11513834C>G	ENST00000262442.4	+	3	804	c.736C>G	c.(736-738)Ccc>Gcc	p.P246A	DNAH9_ENST00000454412.2_Missense_Mutation_p.P246A|DNAH9_ENST00000579828.1_Missense_Mutation_p.P246A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	246	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGGGAGAATCCCACCCCTAA	0.498																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(736-738)Ccc>Gcc		dynein, axonemal, heavy chain 9							66.0	65.0	65.0					17																	11513834		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11513834C>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.736C>G	17.37:g.11513834C>G	ENSP00000262442:p.Pro246Ala					DNAH9_ENST00000579828.1_Missense_Mutation_p.P246A|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.P246A	p.P246A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	3	804	+		Breast(5;0.0122)|all_epithelial(5;0.131)	246			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.736C>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176144	0.78564	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.56103	0.48;0.48	5.78	4.8	0.61643	Dynein heavy chain, domain-1 (1);	0.152029	0.44097	D	0.000492	T	0.76241	0.3960	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.984;0.991	T	0.79237	-0.1886	10	0.37606	T	0.19	.	16.4397	0.83896	0.0:0.8683:0.1317:0.0	.	246;246	Q9NYC9;E7EP17	DYH9_HUMAN;.	A	246	ENSP00000262442:P246A;ENSP00000414874:P246A	ENSP00000262442:P246A	P	+	1	0	DNAH9	11454559	1.000000	0.71417	0.966000	0.40874	0.896000	0.52359	5.887000	0.69751	1.441000	0.47550	0.655000	0.94253	CCC		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		27	58	0	0	0	1	0	27	58				
TRIM23	373	broad.mit.edu	37	5	64913959	64913959	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:64913959C>T	ENST00000231524.9	-	2	576	c.205G>A	c.(205-207)Gca>Aca	p.A69T	TRIM23_ENST00000274327.7_Missense_Mutation_p.A69T|TRIM23_ENST00000381018.3_Missense_Mutation_p.A69T	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	69					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CAACGGATTGCTCTTCCATGA	0.408																																						ENST00000231524.9																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(205-207)Gca>Aca		tripartite motif containing 23							130.0	122.0	125.0					5																	64913959		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64913959C>T	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.205G>A	5.37:g.64913959C>T	ENSP00000231524:p.Ala69Thr					TRIM23_ENST00000381018.3_Missense_Mutation_p.A69T|TRIM23_ENST00000274327.7_Missense_Mutation_p.A69T	p.A69T	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN		Lung(70;0.00473)	2	576	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	69					Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.205G>A	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997293	0.54147	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.73047	-0.65;-0.62;-0.71	5.5	5.5	0.81552	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	N	0.10809	0.05	0.80722	D	1	B;B;B	0.20887	0.012;0.049;0.02	B;B;B	0.21360	0.01;0.033;0.034	T	0.49725	-0.8909	10	0.14252	T	0.57	.	17.5734	0.87941	0.0:1.0:0.0:0.0	.	69;69;69	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	T	69	ENSP00000231524:A69T;ENSP00000370406:A69T;ENSP00000274327:A69T	ENSP00000231524:A69T	A	-	1	0	TRIM23	64949715	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.437000	0.80417	2.589000	0.87451	0.467000	0.42956	GCA		0.408	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		15	81	0	0	0	1	0	15	81				
SGPL1	8879	broad.mit.edu	37	10	72629616	72629616	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:72629616C>T	ENST00000373202.3	+	9	972	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	258					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)	p.R258W(2)		large_intestine(4)	4						GAAGATTGTGCGGGTCCCATT	0.537																																					Colon(151;1054 2458 6676 40971)	ENST00000373202.3																			2	Substitution - Missense(2)	p.R258W(2)	large_intestine(1)|kidney(1)	large_intestine(4)	4						c.(772-774)Cgg>Tgg		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						145.0	139.0	141.0					10																	72629616		2203	4300	6503	SO:0001583	missense	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72629616C>T	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.772C>T	10.37:g.72629616C>T	ENSP00000362298:p.Arg258Trp						p.R258W	NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN			9	972	+			258					B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	c.772C>T	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389511	0.82902	.	.	ENSG00000166224	ENST00000373202	T	0.37752	1.18	5.65	4.73	0.59995	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.100546	0.64402	D	0.000002	T	0.38241	0.1033	L	0.45470	1.425	0.44447	D	0.997377	P	0.39903	0.694	B	0.42361	0.385	T	0.15065	-1.0450	10	0.40728	T	0.16	-17.473	15.8072	0.78524	0.1371:0.8629:0.0:0.0	.	258	O95470	SGPL1_HUMAN	W	258	ENSP00000362298:R258W	ENSP00000362298:R258W	R	+	1	2	SGPL1	72299622	1.000000	0.71417	0.296000	0.24974	0.919000	0.55068	5.711000	0.68400	1.341000	0.45600	0.591000	0.81541	CGG		0.537	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		7	205	0	0	0	1	0	7	205				
ZNF534	147658	broad.mit.edu	37	19	52941775	52941775	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:52941775C>A	ENST00000332323.6	+	4	1162	c.1101C>A	c.(1099-1101)taC>taA	p.Y367*	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Nonsense_Mutation_p.Y354*	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AGAGACCATACAAATGTAATG	0.423																																						ENST00000332323.6																			0				central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(1099-1101)taC>taA		zinc finger protein 534							100.0	96.0	98.0					19																	52941775		692	1591	2283	SO:0001587	stop_gained	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52941775C>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1101C>A	19.37:g.52941775C>A	ENSP00000327538:p.Tyr367*					ZNF534_ENST00000433050.1_Nonsense_Mutation_p.Y354*|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	p.Y367*	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN			4	1162	+			367					Q76KX9	Nonsense_Mutation	SNP	ENST00000332323.6	37	c.1101C>A	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254713	0.39896	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	.	.	.	1.82	-3.35	0.04928	.	.	.	.	.	.	.	.	.	.	.	0.21719	N	0.999571	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9938	0.30256	0.0:0.4291:0.0:0.5709	.	.	.	.	X	367;354;366	.	ENSP00000327538:Y367X	Y	+	3	2	ZNF534	57633587	0.000000	0.05858	0.015000	0.15790	0.003000	0.03518	-0.523000	0.06230	-0.875000	0.04022	-0.373000	0.07131	TAC		0.423	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		8	4	1	0	0.000157383	1	0.000161043	8	4				
TRIM23	373	broad.mit.edu	37	5	64913958	64913958	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:64913958G>A	ENST00000231524.9	-	2	577	c.206C>T	c.(205-207)gCa>gTa	p.A69V	TRIM23_ENST00000274327.7_Missense_Mutation_p.A69V|TRIM23_ENST00000381018.3_Missense_Mutation_p.A69V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	69					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		GCAACGGATTGCTCTTCCATG	0.413																																						ENST00000231524.9																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(205-207)gCa>gTa		tripartite motif containing 23							131.0	122.0	125.0					5																	64913958		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64913958G>A	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.206C>T	5.37:g.64913958G>A	ENSP00000231524:p.Ala69Val					TRIM23_ENST00000381018.3_Missense_Mutation_p.A69V|TRIM23_ENST00000274327.7_Missense_Mutation_p.A69V	p.A69V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN		Lung(70;0.00473)	2	577	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	69					Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.206C>T	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346763	0.82022	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.73897	-0.73;-0.71;-0.79	5.5	5.5	0.81552	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	N	0.21373	0.66	0.80722	D	1	B;B;B	0.29988	0.075;0.264;0.123	B;B;B	0.21360	0.01;0.033;0.034	T	0.60214	-0.7307	10	0.37606	T	0.19	.	17.5734	0.87941	0.0:0.0:1.0:0.0	.	69;69;69	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	V	69	ENSP00000231524:A69V;ENSP00000370406:A69V;ENSP00000274327:A69V	ENSP00000231524:A69V	A	-	2	0	TRIM23	64949714	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.410000	0.97335	2.589000	0.87451	0.467000	0.42956	GCA		0.413	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		15	78	0	0	0	1	0	15	78				
SLITRK5	26050	broad.mit.edu	37	13	88328033	88328033	+	Silent	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr13:88328033T>C	ENST00000325089.6	+	2	609	c.390T>C	c.(388-390)ggT>ggC	p.G130G	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	130					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGCTACGGGGTTTGAGGAGAT	0.448																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(388-390)ggT>ggC		SLIT and NTRK-like family, member 5							97.0	98.0	98.0					13																	88328033		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88328033T>C	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.390T>C	13.37:g.88328033T>C						SLITRK5_ENST00000400028.3_Intron	p.G130G	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	609	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		130					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.390T>C	CCDS9465.1																																																																																				0.448	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			42	166	0	0	0	1	0	42	166				
LRBA	987	broad.mit.edu	37	4	151242354	151242354	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:151242354T>C	ENST00000357115.3	-	51	7895	c.7652A>G	c.(7651-7653)cAc>cGc	p.H2551R	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000535741.1_Missense_Mutation_p.H2540R|LRBA_ENST00000510413.1_Missense_Mutation_p.H2540R|LRBA_ENST00000507224.1_Missense_Mutation_p.H2540R	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2551						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGGAAGGTTGTGCCATTTGTT	0.443																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7618-7620)cAc>cGc		LPS-responsive vesicle trafficking, beach and anchor containing							148.0	136.0	140.0					4																	151242354		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151242354T>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7652A>G	4.37:g.151242354T>C	ENSP00000349629:p.His2551Arg					LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.H2540R|LRBA_ENST00000507224.1_Missense_Mutation_p.H2540R|LRBA_ENST00000357115.3_Missense_Mutation_p.H2551R	p.H2540R			P50851	LRBA_HUMAN			50	8092	-	all_hematologic(180;0.151)		2551					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.7619A>G	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.6|20.6	4.009584|4.009584	0.75046|0.75046	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.71222|.	-0.55;-0.55;-0.55;-0.55|.	6.07|6.07	6.07|6.07	0.98685|0.98685	WD40 repeat-like-containing domain (1);|.	0.112198|.	0.64402|.	D|.	0.000013|.	T|T	0.59838|0.59838	0.2223|0.2223	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D;D;B;P|.	0.60575|.	0.985;0.988;0.106;0.749|.	P;P;B;B|.	0.58454|.	0.637;0.839;0.026;0.359|.	T|T	0.55425|0.55425	-0.8143|-0.8143	10|5	0.22109|.	T|.	0.4|.	.|.	16.6407|16.6407	0.85098|0.85098	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2551;2540;2540;446|.	P50851;F5H1X8;P50851-2;Q68D03|.	LRBA_HUMAN;.;.;.|.	R|A	2540;2540;2551;2540|1193	ENSP00000446299:H2540R;ENSP00000421552:H2540R;ENSP00000349629:H2551R;ENSP00000422180:H2540R|.	ENSP00000349629:H2551R|.	H|T	-|-	2|1	0|0	LRBA|LRBA	151461804|151461804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.141000|6.141000	0.71744|0.71744	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.443	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			22	99	0	0	0	1	0	22	99				
NBPF10	100132406	broad.mit.edu	37	1	145293478	145293478	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:145293478C>T	ENST00000369339.3	+	3	326	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.R25C|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	296						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CGAGACATTGCGCCCCCAGCT	0.502																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(73-75)Cgc>Tgc		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145293478C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.73C>T	1.37:g.145293478C>T	ENSP00000358345:p.Arg25Cys					NBPF10_ENST00000369339.2_Missense_Mutation_p.R25C|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.R25C	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	108	+	all_hematologic(923;0.032)		25					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.73C>T		.	.	.	.	.	.	.	.	.	.	.	7.184	0.590223	0.13812	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.03441	3.93	1.06	-1.21	0.09524	.	.	.	.	.	T	0.01092	0.0036	L	0.51914	1.62	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.44711	-0.9310	9	0.39692	T	0.17	.	3.9047	0.09177	0.0:0.4611:0.0:0.5389	.	25	A8MQ30	.	C	25	ENSP00000345684:R25C	ENSP00000345684:R25C	R	+	1	0	NBPF10	144004835	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.505000	0.06367	-0.464000	0.06963	0.184000	0.17185	CGC		0.502	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		9	1625	0	0	0	1	0	9	1625				
TOM1L1	10040	broad.mit.edu	37	17	52993200	52993200	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:52993200C>T	ENST00000575882.1	+	7	1050	c.697C>T	c.(697-699)Cat>Tat	p.H233Y	TOM1L1_ENST00000570371.1_Missense_Mutation_p.H233Y|TOM1L1_ENST00000536554.1_Missense_Mutation_p.H156Y|TOM1L1_ENST00000572158.1_Missense_Mutation_p.H226Y|TOM1L1_ENST00000445275.2_Missense_Mutation_p.H233Y|TOM1L1_ENST00000540336.1_Missense_Mutation_p.H121Y|TOM1L1_ENST00000572405.1_Missense_Mutation_p.H198Y|TOM1L1_ENST00000348161.4_Missense_Mutation_p.H156Y|TOM1L1_ENST00000575333.1_Missense_Mutation_p.H233Y	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	233	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GTCTGAAAACCATGAAGACAT	0.403																																						ENST00000575882.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						c.(697-699)Cat>Tat		target of myb1 (chicken)-like 1							182.0	161.0	168.0					17																	52993200		2203	4300	6503	SO:0001583	missense	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:52993200C>T	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.697C>T	17.37:g.52993200C>T	ENSP00000460823:p.His233Tyr					TOM1L1_ENST00000572158.1_Missense_Mutation_p.H226Y|TOM1L1_ENST00000570371.1_Missense_Mutation_p.H233Y|TOM1L1_ENST00000572405.1_Missense_Mutation_p.H198Y|TOM1L1_ENST00000445275.2_Missense_Mutation_p.H233Y|TOM1L1_ENST00000536554.1_Missense_Mutation_p.H156Y|TOM1L1_ENST00000348161.4_Missense_Mutation_p.H156Y|TOM1L1_ENST00000540336.1_Missense_Mutation_p.H121Y|TOM1L1_ENST00000575333.1_Missense_Mutation_p.H233Y	p.H233Y	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN			7	1050	+			233			GAT.		Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	c.697C>T	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125603	0.37533	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.17	2.99	0.34606	GAT (2);	1.209570	0.05753	N	0.603534	T	0.31136	0.0787	N	0.14661	0.345	0.19945	N	0.999949	P;B;B;B;B;P	0.40360	0.641;0.45;0.45;0.45;0.243;0.714	B;B;B;B;B;B	0.41764	0.366;0.14;0.272;0.185;0.185;0.272	T	0.28618	-1.0038	10	0.66056	D	0.02	2.7653	6.6601	0.23009	0.1458:0.7006:0.0:0.1536	.	121;226;156;233;233;156	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749;B4E1M9	.;.;.;TM1L1_HUMAN;.;.	Y	233;121;156;156	ENSP00000408958:H233Y;ENSP00000441242:H121Y;ENSP00000343901:H156Y;ENSP00000443099:H156Y	ENSP00000343901:H156Y	H	+	1	0	TOM1L1	50348199	0.244000	0.23889	0.702000	0.30337	0.861000	0.49209	0.725000	0.25970	0.942000	0.37525	0.655000	0.94253	CAT		0.403	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		17	112	0	0	0	1	0	17	112				
DGAT2	84649	broad.mit.edu	37	11	75509403	75509403	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr11:75509403T>C	ENST00000228027.7	+	7	1201	c.941T>C	c.(940-942)tTc>tCc	p.F314S	RP11-535A19.1_ENST00000534354.1_RNA|DGAT2_ENST00000376262.3_Missense_Mutation_p.F271S	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	314					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CCATGCATCTTCCATGGTCGA	0.572																																					Melanoma(35;811 1096 8354 24009 39363)	ENST00000228027.7																			0				endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17						c.(940-942)tTc>tCc		diacylglycerol O-acyltransferase 2							98.0	84.0	89.0					11																	75509403		2200	4293	6493	SO:0001583	missense	84649				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr11:75509403T>C		CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"""diacylglycerol O-acyltransferase homolog 2 (mouse)"""			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.941T>C	11.37:g.75509403T>C	ENSP00000228027:p.Phe314Ser					DGAT2_ENST00000376262.3_Missense_Mutation_p.F271S	p.F314S	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN			7	1201	+	Ovarian(111;0.103)		314					A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	ENST00000228027.7	37	c.941T>C	CCDS31642.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.875674	0.91664	.	.	ENSG00000062282	ENST00000228027;ENST00000376262;ENST00000525612	T;T	0.17691	2.26;2.26	5.59	5.59	0.84812	.	0.043520	0.85682	D	0.000000	T	0.48607	0.1509	M	0.88906	2.99	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79784	0.993;0.974	T	0.56673	-0.7940	10	0.62326	D	0.03	-44.6165	14.8856	0.70567	0.0:0.0:0.0:1.0	.	271;314	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	S	314;271;268	ENSP00000228027:F314S;ENSP00000365438:F271S	ENSP00000228027:F314S	F	+	2	0	DGAT2	75187051	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.059000	0.76684	2.255000	0.74692	0.533000	0.62120	TTC		0.572	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564		50	87	0	0	0	1	0	50	87				
DAB2IP	153090	broad.mit.edu	37	9	124329482	124329482	+	Silent	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr9:124329482C>T	ENST00000259371.2	+	1	84	c.15C>T	c.(13-15)tcC>tcT	p.S5S		NM_032552.2	NP_115941.2	Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	0					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGCCCGACTCCCTTCTGGACC	0.567																																						ENST00000259371.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(13-15)tcC>tcT		DAB2 interacting protein							97.0	110.0	106.0					9																	124329482		1964	4160	6124	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124329482C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000259371.2:c.15C>T	9.37:g.124329482C>T							p.S5S	NM_032552.2	NP_115941.2	Q5VWQ8	DAB2P_HUMAN			1	84	+			0					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000259371.2	37	c.15C>T	CCDS6833.2																																																																																				0.567	DAB2IP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_032552		22	122	0	0	0	1	0	22	122				
SAR1A	56681	broad.mit.edu	37	10	71913669	71913669	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:71913669T>G	ENST00000373242.2	-	7	601	c.405A>C	c.(403-405)aaA>aaC	p.K135N	SAR1A_ENST00000458634.2_Missense_Mutation_p.K92N|SAR1A_ENST00000373241.4_Missense_Mutation_p.K135N|SAR1A_ENST00000373238.1_Missense_Mutation_p.K135N|SAR1A_ENST00000431664.2_Missense_Mutation_p.K135N	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	secretion associated, Ras related GTPase 1A	135					intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TTCTGTCAATTTTGTTACCCA	0.323																																						ENST00000373238.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(403-405)aaA>aaC		SAR1 homolog A (S. cerevisiae)							197.0	199.0	198.0					10																	71913669		2203	4300	6503	SO:0001583	missense	56681				ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity	g.chr10:71913669T>G		CCDS7298.1	10q22.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000079332	ENSG00000079332			10534	protein-coding gene	gene with protein product		607691	"""SAR1a gene homolog (S. cerevisiae) 1"", ""SAR1a gene homolog 1 (S. cerevisiae)"", ""SAR1 homolog A (S. cerevisiae)"""	SARA1		10871277	Standard	NM_020150		Approved	SAR1, Sara	uc010qji.2	Q9NR31	OTTHUMG00000018400	ENST00000373242.2:c.405A>C	10.37:g.71913669T>G	ENSP00000362339:p.Lys135Asn					SAR1A_ENST00000431664.2_Missense_Mutation_p.K135N|SAR1A_ENST00000373241.4_Missense_Mutation_p.K135N|SAR1A_ENST00000458634.2_Missense_Mutation_p.K92N|SAR1A_ENST00000373242.1_Missense_Mutation_p.K135N	p.K135N			Q9NR31	SAR1A_HUMAN			6	762	-			135					B4DQ19	Missense_Mutation	SNP	ENST00000373242.2	37	c.405A>C	CCDS7298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.158053|4.158053	0.78114|0.78114	.|.	.|.	ENSG00000079332|ENSG00000079332	ENST00000373241;ENST00000373239;ENST00000373238;ENST00000373242;ENST00000431664;ENST00000458634;ENST00000395026|ENST00000452767	D;D;D;D;D|.	0.95980|.	-3.87;-3.87;-3.87;-3.87;-3.87|.	5.38|5.38	4.23|4.23	0.50019|0.50019	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89860|0.89860	0.6837|0.6837	H|H	0.99968|0.99968	5.105|5.105	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.40602|.	0.723|.	P|.	0.47075|.	0.536|.	D|D	0.90618|0.90618	0.4557|0.4557	10|5	0.87932|.	D|.	0|.	.|.	9.5075|9.5075	0.39056|0.39056	0.0:0.0877:0.0:0.9123|0.0:0.0877:0.0:0.9123	.|.	135|.	Q9NR31|.	SAR1A_HUMAN|.	N|H	135;135;135;135;135;92;54|52	ENSP00000362338:K135N;ENSP00000362335:K135N;ENSP00000362339:K135N;ENSP00000399698:K135N;ENSP00000437979:K92N|.	ENSP00000362335:K135N|.	K|N	-|-	3|1	2|0	SAR1A|SAR1A	71583675|71583675	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.782000|2.782000	0.47758|0.47758	0.866000|0.866000	0.35629|0.35629	0.533000|0.533000	0.62120|0.62120	AAA|AAT		0.323	SAR1A-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048500.2			42	316	0	0	0	1	0	42	316				
COLEC11	78989	broad.mit.edu	37	2	3691473	3691473	+	Missense_Mutation	SNP	C	C	T	rs139848694	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:3691473C>T	ENST00000349077.4	+	7	684	c.581C>T	c.(580-582)gCg>gTg	p.A194V	COLEC11_ENST00000236693.7_Missense_Mutation_p.A191V|COLEC11_ENST00000404205.1_Missense_Mutation_p.A120V|COLEC11_ENST00000418971.2_Missense_Mutation_p.A208V|COLEC11_ENST00000403096.3_Missense_Mutation_p.A168V|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402794.1_Missense_Mutation_p.A144V|COLEC11_ENST00000382062.2_Missense_Mutation_p.A170V|COLEC11_ENST00000402922.1_Missense_Mutation_p.A144V	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	194	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GCATACCTGGCGCAAGCCGGC	0.662																																						ENST00000403096.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(502-504)gCg>gTg		collectin sub-family member 11		C	VAL/ALA,VAL/ALA	2,4404	2.1+/-5.4	0,2,2201	36.0	41.0	39.0		581,572	4.3	1.0	2	dbSNP_134	39	1,8599		0,1,4299	yes	missense,missense	COLEC11	NM_024027.3,NM_199235.1	64,64	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign,benign	194/272,191/269	3691473	3,13003	2203	4300	6503	SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3691473C>T	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.581C>T	2.37:g.3691473C>T	ENSP00000339168:p.Ala194Val					COLEC11_ENST00000402922.1_Missense_Mutation_p.A144V|COLEC11_ENST00000349077.4_Missense_Mutation_p.A194V|COLEC11_ENST00000382062.2_Missense_Mutation_p.A170V|COLEC11_ENST00000402794.1_Missense_Mutation_p.A144V|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Missense_Mutation_p.A120V|COLEC11_ENST00000418971.2_Missense_Mutation_p.A208V|COLEC11_ENST00000236693.7_Missense_Mutation_p.A191V	p.A168V	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	994	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		194			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.503C>T	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555918	0.27827	4.54E-4	1.16E-4	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.3	4.34	0.51931	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.302715	0.37530	N	0.002044	T	0.12220	0.0297	N	0.17345	0.48	0.37428	D	0.913907	B;B;B;B;B;B;B;B;B	0.22211	0.01;0.021;0.021;0.008;0.036;0.01;0.021;0.026;0.066	B;B;B;B;B;B;B;B;B	0.14578	0.006;0.006;0.006;0.004;0.006;0.007;0.006;0.011;0.007	T	0.12116	-1.0560	10	0.32370	T	0.25	-13.9977	10.3678	0.44035	0.3894:0.6106:0.0:0.0	.	120;144;144;168;146;170;170;194;191	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	V	170;191;194;208;168;144;120;144	ENSP00000371494:A170V;ENSP00000236693:A191V;ENSP00000339168:A194V;ENSP00000411770:A208V;ENSP00000385130:A168V;ENSP00000384882:A144V;ENSP00000385827:A120V;ENSP00000385653:A144V	ENSP00000236693:A191V	A	+	2	0	COLEC11	3669348	0.326000	0.24669	0.998000	0.56505	0.043000	0.13939	0.643000	0.24750	2.467000	0.83353	0.467000	0.42956	GCG		0.662	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		8	58	0	0	0	1	0	8	58				
AP1G1	164	broad.mit.edu	37	16	71784159	71784159	+	Missense_Mutation	SNP	T	T	C	rs571476399		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:71784159T>C	ENST00000299980.4	-	14	1802	c.1361A>G	c.(1360-1362)tAt>tGt	p.Y454C	AP1G1_ENST00000393512.3_Missense_Mutation_p.Y457C|AP1G1_ENST00000569748.1_Missense_Mutation_p.Y454C|AP1G1_ENST00000423132.2_Missense_Mutation_p.Y457C|AP1G1_ENST00000433195.2_Missense_Mutation_p.Y477C|AP1G1_ENST00000564155.1_5'Flank	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	454					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTGGACAGTATAGGCATGCAT	0.378													T|||	1	0.000199681	0.0	0.0	5008	,	,		18804	0.001		0.0	False		,,,				2504	0.0					ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(1360-1362)tAt>tGt		adaptor-related protein complex 1, gamma 1 subunit							156.0	154.0	155.0					16																	71784159		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71784159T>C	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1361A>G	16.37:g.71784159T>C	ENSP00000299980:p.Tyr454Cys					AP1G1_ENST00000569748.1_Missense_Mutation_p.Y454C|AP1G1_ENST00000393512.3_Missense_Mutation_p.Y457C|AP1G1_ENST00000433195.2_Missense_Mutation_p.Y477C|AP1G1_ENST00000423132.2_Missense_Mutation_p.Y457C	p.Y454C	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN			14	1802	-		Ovarian(137;0.125)	454					O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.1361A>G	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.511525	0.85389	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000425422	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.09	5.09	0.68999	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	H	0.96460	3.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.996;0.998	T	0.68454	-0.5404	10	0.87932	D	0	-9.0641	14.8488	0.70281	0.0:0.0:0.0:1.0	.	454;477;457	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	C	454;457;457;477;539	ENSP00000299980:Y454C;ENSP00000377148:Y457C;ENSP00000409153:Y457C;ENSP00000403259:Y477C	ENSP00000299980:Y454C	Y	-	2	0	AP1G1	70341660	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.661000	0.83786	1.916000	0.55485	0.379000	0.24179	TAT		0.378	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			11	248	0	0	0	1	0	11	248				
CUBN	8029	broad.mit.edu	37	10	16982080	16982080	+	Silent	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:16982080G>T	ENST00000377833.4	-	37	5564	c.5499C>A	c.(5497-5499)atC>atA	p.I1833I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1833	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACCATCTGAGATAAATCTGA	0.448																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(5497-5499)atC>atA		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						160.0	172.0	168.0					10																	16982080		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16982080G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5499C>A	10.37:g.16982080G>T							p.I1833I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			37	5564	-			1833			CUB 12.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.5499C>A	CCDS7113.1																																																																																				0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		22	277	1	0	3.83957e-06	1	3.97508e-06	22	277				
CADPS	8618	broad.mit.edu	37	3	62570911	62570911	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:62570911T>G	ENST00000383710.4	-	8	1875	c.1526A>C	c.(1525-1527)aAa>aCa	p.K509T	CADPS_ENST00000357948.3_Missense_Mutation_p.K509T|CADPS_ENST00000283269.9_Missense_Mutation_p.K509T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	509					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAGTTTGATTTTGAGATCTTG	0.463																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1525-1527)aAa>aCa		Ca++-dependent secretion activator							209.0	197.0	201.0					3																	62570911		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62570911T>G	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1526A>C	3.37:g.62570911T>G	ENSP00000373215:p.Lys509Thr					CADPS_ENST00000283269.9_Missense_Mutation_p.K509T|CADPS_ENST00000357948.3_Missense_Mutation_p.K509T	p.K509T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	8	1875	-		Lung SC(41;0.0452)	509					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1526A>C	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390633	0.82902	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	T;T;T	0.51325	0.74;0.71;0.73	5.95	5.95	0.96441	.	0.050671	0.85682	D	0.000000	T	0.56978	0.2022	L	0.61218	1.895	0.80722	D	1	P;P;D;P	0.53619	0.735;0.675;0.961;0.837	P;B;B;B	0.49853	0.624;0.367;0.398;0.438	T	0.61816	-0.6985	10	0.87932	D	0	.	16.4101	0.83708	0.0:0.0:0.0:1.0	.	509;509;509;509	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	T	509;509;509;509;4	ENSP00000373215:K509T;ENSP00000350632:K509T;ENSP00000283269:K509T	ENSP00000283269:K509T	K	-	2	0	CADPS	62545951	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.185000	0.58330	2.280000	0.76307	0.460000	0.39030	AAA		0.463	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		15	116	0	0	0	1	0	15	116				
ZNF521	25925	broad.mit.edu	37	18	22805927	22805927	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr18:22805927T>C	ENST00000361524.3	-	4	2103	c.1955A>G	c.(1954-1956)cAc>cGc	p.H652R	ZNF521_ENST00000584787.1_Missense_Mutation_p.H432R|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.H652R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	652					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTTTTTAGGTGAGTCTGAAA	0.458			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1954-1956)cAc>cGc		zinc finger protein 521							182.0	168.0	173.0					18																	22805927		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805927T>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1955A>G	18.37:g.22805927T>C	ENSP00000354794:p.His652Arg					ZNF521_ENST00000538137.2_Missense_Mutation_p.H652R|ZNF521_ENST00000584787.1_Missense_Mutation_p.H432R	p.H652R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2103	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		652					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1955A>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	9.194	1.026851	0.19512	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	D;D;D	0.99923	-8.01;-1.55;-8.01	5.67	5.67	0.87782	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.99923	0.9964	M	0.87971	2.92	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.95639	0.8696	10	0.87932	D	0	-31.9265	16.215	0.82206	0.0:0.0:0.0:1.0	.	652	Q96K83	ZN521_HUMAN	R	652;686;652	ENSP00000354794:H652R;ENSP00000440768:H686R;ENSP00000382352:H652R	ENSP00000354794:H652R	H	-	2	0	ZNF521	21059925	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.655000	0.83696	2.288000	0.76882	0.533000	0.62120	CAC		0.458	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		28	191	0	0	0	1	0	28	191				
KALRN	8997	broad.mit.edu	37	3	124215244	124215244	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:124215244C>A	ENST00000240874.3	+	33	5070	c.4913C>A	c.(4912-4914)aCa>aAa	p.T1638K	KALRN_ENST00000360013.3_Missense_Mutation_p.T1638K|KALRN_ENST00000460856.1_Missense_Mutation_p.T1629K	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1638					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTCAGAACACAGTGGACAGT	0.532																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(4912-4914)aCa>aAa		kalirin, RhoGEF kinase							130.0	120.0	123.0					3																	124215244		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124215244C>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4913C>A	3.37:g.124215244C>A	ENSP00000240874:p.Thr1638Lys					KALRN_ENST00000240874.3_Missense_Mutation_p.T1638K|KALRN_ENST00000460856.1_Missense_Mutation_p.T1629K	p.T1638K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			33	5040	+			1638					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.4913C>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.866548|4.866548	0.91511|0.91511	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.26518	.|1.73;1.73;1.73	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.120227	.|0.56097	.|D	.|0.000040	T|T	0.52901|0.52901	0.1763|0.1763	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.992;0.998;0.995	.|P;D;D	.|0.76071	.|0.874;0.987;0.941	T|T	0.53358|0.53358	-0.8450|-0.8450	5|10	.|0.87932	.|D	.|0	.|.	19.3982|19.3982	0.94617|0.94617	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1629;1638;1638	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	K|K	1607|1629;1638;1638	.|ENSP00000418611:T1629K;ENSP00000240874:T1638K;ENSP00000353109:T1638K	.|ENSP00000240874:T1638K	Q|T	+|+	1|2	0|0	KALRN|KALRN	125697934|125697934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.609000|7.609000	0.82925|0.82925	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.532	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		4	83	1	0	0.150653	1	0.150653	4	83				
ASH1L	55870	broad.mit.edu	37	1	155316205	155316205	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:155316205C>G	ENST00000368346.3	-	21	8513	c.7874G>C	c.(7873-7875)tGt>tCt	p.C2625S	ASH1L_ENST00000392403.3_Missense_Mutation_p.C2620S|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2625					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACACTGCTCACAAAGGTAGTG	0.468																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(7873-7875)tGt>tCt		ash1 (absent, small, or homeotic)-like (Drosophila)							206.0	174.0	184.0					1																	155316205		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155316205C>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7874G>C	1.37:g.155316205C>G	ENSP00000357330:p.Cys2625Ser					ASH1L_ENST00000392403.3_Missense_Mutation_p.C2620S|MIR555_ENST00000384987.1_RNA	p.C2625S			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		21	8513	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2625					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7874G>C		.	.	.	.	.	.	.	.	.	.	C	33	5.222150	0.95139	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.99667	-6.34;-6.34	5.33	5.33	0.75918	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.96928	0.9679	10	0.87932	D	0	.	18.8133	0.92068	0.0:1.0:0.0:0.0	.	2625;2620	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	S	2625;2620	ENSP00000357330:C2625S;ENSP00000376204:C2620S	ENSP00000357330:C2625S	C	-	2	0	ASH1L	153582829	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.427000	0.80284	2.777000	0.95525	0.591000	0.81541	TGT		0.468	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		15	184	0	0	0	1	0	15	184				
ALG5	29880	broad.mit.edu	37	13	37569653	37569653	+	Silent	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr13:37569653G>T	ENST00000239891.3	-	2	213	c.147C>A	c.(145-147)gcC>gcA	p.A49A	ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Silent_p.A49A|ALG5_ENST00000443765.1_Silent_p.A49A	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	49					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TCTGGCCTTTGGCATTTAAGA	0.403																																						ENST00000239891.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(145-147)gcC>gcA		ALG5, dolichyl-phosphate beta-glucosyltransferase							121.0	117.0	118.0					13																	37569653		2203	4300	6503	SO:0001819	synonymous_variant	29880				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	g.chr13:37569653G>T	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.147C>A	13.37:g.37569653G>T						ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000443765.1_Silent_p.A49A|ALG5_ENST00000413537.2_Silent_p.A49A	p.A49A	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	2	213	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	49					B4DR37|Q5TBA6	Silent	SNP	ENST00000239891.3	37	c.147C>A	CCDS9361.1																																																																																				0.403	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338		24	71	1	0	1.66031e-10	1	1.76032e-10	24	71				
ZNF217	7764	broad.mit.edu	37	20	52198785	52198785	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:52198785C>T	ENST00000371471.2	-	2	1006	c.581G>A	c.(580-582)aGt>aAt	p.S194N	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.S194N			O75362	ZN217_HUMAN	zinc finger protein 217	194					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGCTGGACTACTCTCCAAGCC	0.498																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(580-582)aGt>aAt		zinc finger protein 217							160.0	157.0	158.0					20																	52198785		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198785C>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.581G>A	20.37:g.52198785C>T	ENSP00000360526:p.Ser194Asn					ZNF217_ENST00000302342.3_Missense_Mutation_p.S194N	p.S194N			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	1006	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		194					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.581G>A	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	4.263	0.047880	0.08243	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09163	3.01;3.01	5.15	5.15	0.70609	.	0.377447	0.27821	N	0.017707	T	0.09555	0.0235	L	0.32530	0.975	0.09310	N	1	B	0.31485	0.325	B	0.28385	0.089	T	0.20806	-1.0264	10	0.44086	T	0.13	.	13.5533	0.61745	0.1559:0.8441:0.0:0.0	.	194	O75362	ZN217_HUMAN	N	194	ENSP00000360526:S194N;ENSP00000304308:S194N	ENSP00000304308:S194N	S	-	2	0	ZNF217	51632192	0.006000	0.16342	0.040000	0.18447	0.018000	0.09664	1.727000	0.38095	2.560000	0.86352	0.591000	0.81541	AGT		0.498	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		8	219	0	0	0	1	0	8	219				
NPIPB15	440348	broad.mit.edu	37	16	74425487	74425487	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:74425487A>T	ENST00000429990.1	+	7	937	c.841A>T	c.(841-843)Aat>Tat	p.N281Y				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	281	Pro-rich.					extracellular region (GO:0005576)											AGTGGATGATAATATCAAGGA	0.502																																						ENST00000429990.1																			0											c.(841-843)Aat>Tat		nuclear pore complex interacting protein family, member B15							153.0	150.0	151.0					16																	74425487		2184	4287	6471	SO:0001583	missense	440348							g.chr16:74425487A>T	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.841A>T	16.37:g.74425487A>T	ENSP00000411140:p.Asn281Tyr						p.N281Y							7	937	+								C9J9U8	Missense_Mutation	SNP	ENST00000429990.1	37	c.841A>T		.	.	.	.	.	.	.	.	.	.	-	9.859	1.195663	0.22037	.	.	ENSG00000196436	ENST00000504746;ENST00000429990	T	0.47869	0.83	.	.	.	.	.	.	.	.	T	0.59376	0.2189	L	0.53249	1.67	0.09310	N	1	D	0.71674	0.998	D	0.75484	0.986	T	0.44922	-0.9296	6	0.87932	D	0	.	.	.	.	.	220	A6NHN6	NPPL2_HUMAN	Y	159;281	ENSP00000411140:N281Y	ENSP00000411140:N281Y	N	+	1	0	NPIPL2	72982988	.	.	.	.	.	.	.	.	.	.	.	.	AAT		0.502	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059		10	212	0	0	0	1	0	10	212				
ABCB11	8647	broad.mit.edu	37	2	169826657	169826657	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:169826657G>A	ENST00000263817.6	-	15	1831	c.1707C>T	c.(1705-1707)atC>atT	p.I569I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	569	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GGGCTCTGGCGATAGCTACCC	0.512																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(1705-1707)atC>atT		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						142.0	139.0	140.0					2																	169826657		1974	4178	6152	SO:0001819	synonymous_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169826657G>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1707C>T	2.37:g.169826657G>A							p.I569I	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			15	1831	-			569			ABC transporter 1.		Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	c.1707C>T	CCDS46444.1																																																																																				0.512	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		48	62	0	0	0	1	0	48	62				
RNF111	54778	broad.mit.edu	37	15	59323022	59323022	+	Start_Codon_SNP	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:59323022A>G	ENST00000557998.1	+	2	288	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RNF111_ENST00000559209.1_Start_Codon_SNP_p.M1V|RNF111_ENST00000434298.1_Start_Codon_SNP_p.M1V|RNF111_ENST00000348370.4_Start_Codon_SNP_p.M1V|RNF111_ENST00000561186.1_Start_Codon_SNP_p.M1V	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	1					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AAAGTTTCCCATGTCTCAATG	0.338																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1-3)Atg>Gtg		ring finger protein 111							48.0	49.0	49.0					15																	59323022		2188	4275	6463	SO:0001582	initiator_codon_variant	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59323022A>G	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1A>G	15.37:g.59323022A>G	ENSP00000452732:p.Met1Val					RNF111_ENST00000561186.1_Start_Codon_SNP_p.M1V|RNF111_ENST00000434298.1_Start_Codon_SNP_p.M1V|RNF111_ENST00000557998.1_Start_Codon_SNP_p.M1V|RNF111_ENST00000559209.1_Start_Codon_SNP_p.M1V	p.M1V	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	2	434	+			1					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Translation_Start_Site	SNP	ENST00000557998.1	37	c.1A>G	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940565	0.52972	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.15256	2.44;2.45	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.15565	0.0375	.	.	.	0.80722	D	1	B;B;B	0.17268	0.021;0.012;0.021	B;B;B	0.19391	0.025;0.004;0.009	T	0.03443	-1.1036	9	0.87932	D	0	-13.2314	9.4361	0.38639	0.9211:0.0:0.0789:0.0	.	1;1;1	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	V	1	ENSP00000288199:M1V;ENSP00000393641:M1V	ENSP00000288199:M1V	M	+	1	0	RNF111	57110314	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.009000	0.63998	2.118000	0.64928	0.402000	0.26972	ATG		0.338	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610	Missense_Mutation	21	65	0	0	0	1	0	21	65				
OR56B1	387748	broad.mit.edu	37	11	5758360	5758360	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr11:5758360G>C	ENST00000317121.3	+	1	680	c.614G>C	c.(613-615)aGc>aCc	p.S205T	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		AGGCCAAACAGCATTTGCCAG	0.448																																						ENST00000317121.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(613-615)aGc>aCc		olfactory receptor, family 56, subfamily B, member 1							82.0	74.0	77.0					11																	5758360		2201	4297	6498	SO:0001583	missense	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758360G>C	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.614G>C	11.37:g.5758360G>C	ENSP00000322939:p.Ser205Thr					TRIM5_ENST00000380027.1_Intron	p.S205T	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	680	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	205					B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	ENST00000317121.3	37	c.614G>C	CCDS31395.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.409048	0.42715	.	.	ENSG00000181023	ENST00000317121	T	0.00099	8.73	5.91	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.367475	0.22954	U	0.053628	T	0.00271	0.0008	M	0.66378	2.025	0.24864	N	0.992327	P	0.50156	0.932	P	0.56865	0.808	T	0.48422	-0.9037	10	0.12430	T	0.62	-2.1266	8.4639	0.32944	0.0815:0.1549:0.7636:0.0	.	205	Q8NGI3	O56B1_HUMAN	T	205	ENSP00000322939:S205T	ENSP00000322939:S205T	S	+	2	0	OR56B1	5714936	0.000000	0.05858	0.907000	0.35723	0.786000	0.44442	0.505000	0.22642	1.496000	0.48567	0.655000	0.94253	AGC		0.448	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		25	45	0	0	0	1	0	25	45				
TCP1	6950	broad.mit.edu	37	6	160200112	160200112	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:160200112C>T	ENST00000321394.7	-	12	1916	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	TCP1_ENST00000392168.2_Missense_Mutation_p.E391K|TCP1_ENST00000544255.1_Missense_Mutation_p.E322K|TCP1_ENST00000420894.2_3'UTR|ACAT2_ENST00000541436.1_3'UTR|SNORA20_ENST00000384662.1_RNA	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	546					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ACAGCATCTTCATAACTTCCA	0.323																																						ENST00000321394.7																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.(1636-1638)Gaa>Aaa		t-complex 1							71.0	71.0	71.0					6																	160200112		2203	4300	6503	SO:0001583	missense	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160200112C>T	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.1636G>A	6.37:g.160200112C>T	ENSP00000317334:p.Glu546Lys					ACAT2_ENST00000541436.1_3'UTR|TCP1_ENST00000392168.2_Missense_Mutation_p.E391K|TCP1_ENST00000420894.2_3'UTR|TCP1_ENST00000544255.1_Missense_Mutation_p.E322K	p.E546K	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	12	1916	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	546					E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	c.1636G>A	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998677	0.35226	.	.	ENSG00000120438	ENST00000321394;ENST00000544255;ENST00000392168	T;T;T	0.68479	-0.33;3.1;3.26	5.93	5.05	0.67936	.	0.270659	0.43747	D	0.000529	T	0.30448	0.0765	N	0.14661	0.345	0.37577	D	0.919657	B	0.02656	0.0	B	0.04013	0.001	T	0.15178	-1.0446	10	0.14252	T	0.57	-29.7162	15.3499	0.74376	0.0:0.7358:0.2642:0.0	.	546	P17987	TCPA_HUMAN	K	546;322;391	ENSP00000317334:E546K;ENSP00000439447:E322K;ENSP00000376008:E391K	ENSP00000317334:E546K	E	-	1	0	TCP1	160120102	0.991000	0.36638	0.988000	0.46212	0.981000	0.71138	1.930000	0.40124	1.484000	0.48361	0.555000	0.69702	GAA		0.323	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		8	151	0	0	0	1	0	8	151				
BRWD1	54014	broad.mit.edu	37	21	40610451	40610451	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr21:40610451C>T	ENST00000333229.2	-	22	2857	c.2530G>A	c.(2530-2532)Gaa>Aaa	p.E844K	BRWD1_ENST00000380800.3_Missense_Mutation_p.E844K|BRWD1_ENST00000342449.3_Missense_Mutation_p.E844K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	844					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTCTCCATTCATCCTCTTCT	0.383																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(2530-2532)Gaa>Aaa		bromodomain and WD repeat domain containing 1							165.0	148.0	154.0					21																	40610451		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40610451C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2530G>A	21.37:g.40610451C>T	ENSP00000330753:p.Glu844Lys					BRWD1_ENST00000380800.3_Missense_Mutation_p.E844K|BRWD1_ENST00000333229.2_Missense_Mutation_p.E844K	p.E844K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			22	2608	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	844					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.2530G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705679	0.89018	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.59224	0.28;0.32;0.4	4.94	4.94	0.65067	.	0.389786	0.24516	N	0.037848	T	0.75309	0.3832	M	0.77820	2.39	0.80722	D	1	P;D;D	0.63880	0.956;0.992;0.993	P;P;D	0.72625	0.899;0.893;0.978	T	0.75048	-0.3455	10	0.38643	T	0.18	-14.5893	15.6807	0.77367	0.0:1.0:0.0:0.0	.	511;844;844	Q5R2U6;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	K	844	ENSP00000330753:E844K;ENSP00000344333:E844K;ENSP00000370178:E844K	ENSP00000330753:E844K	E	-	1	0	BRWD1	39532321	0.994000	0.37717	0.935000	0.37517	0.875000	0.50365	4.100000	0.57762	2.456000	0.83038	0.591000	0.81541	GAA		0.383	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		6	119	0	0	0	1	0	6	119				
LRRIQ1	84125	broad.mit.edu	37	12	85518291	85518291	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:85518291A>C	ENST00000393217.2	+	17	4062	c.4001A>C	c.(4000-4002)gAa>gCa	p.E1334A		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1334										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAGCCTAGTGAAAAAATGTAA	0.328																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4000-4002)gAa>gCa		leucine-rich repeats and IQ motif containing 1							76.0	90.0	86.0					12																	85518291		2201	4291	6492	SO:0001583	missense	84125							g.chr12:85518291A>C	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4001A>C	12.37:g.85518291A>C	ENSP00000376910:p.Glu1334Ala						p.E1334A	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	17	4062	+			1334					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4001A>C	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	8.371	0.835308	0.16820	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.54479	0.57	5.33	2.87	0.33458	.	0.279785	0.27424	N	0.019425	T	0.32194	0.0821	N	0.14661	0.345	0.09310	N	1	B;B	0.22346	0.068;0.068	B;B	0.15870	0.014;0.014	T	0.22977	-1.0201	10	0.66056	D	0.02	.	8.1119	0.30920	0.4541:0.4224:0.0:0.1235	.	1334;1309	Q96JM4;C9JI57	LRIQ1_HUMAN;.	A	1334;1309;1334	ENSP00000376910:E1334A	ENSP00000256007:E1334A	E	+	2	0	LRRIQ1	84042422	0.004000	0.15560	0.019000	0.16419	0.159000	0.22180	0.834000	0.27518	0.366000	0.24427	0.482000	0.46254	GAA		0.328	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		16	146	0	0	0	1	0	16	146				
GAS2L2	246176	broad.mit.edu	37	17	34079505	34079505	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:34079505C>A	ENST00000254466.6	-	1	392	c.365G>T	c.(364-366)cGa>cTa	p.R122L	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R122L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	122	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATCTCCTTTCGACACCACTG	0.572																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(364-366)cGa>cTa		growth arrest-specific 2 like 2							152.0	152.0	152.0					17																	34079505		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34079505C>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.365G>T	17.37:g.34079505C>A	ENSP00000254466:p.Arg122Leu					GAS2L2_ENST00000587565.1_Missense_Mutation_p.R122L	p.R122L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	392	-		Ovarian(249;0.17)	122			CH.		Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.365G>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135592	0.94517	.	.	ENSG00000132139	ENST00000254466;ENST00000359507	D	0.95137	-3.62	5.46	5.46	0.80206	Calponin homology domain (5);	0.000000	0.64402	D	0.000002	D	0.97324	0.9125	M	0.80422	2.495	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97582	1.0111	10	0.87932	D	0	-23.7735	18.4678	0.90762	0.0:1.0:0.0:0.0	.	122	Q8NHY3	GA2L2_HUMAN	L	122	ENSP00000254466:R122L	ENSP00000254466:R122L	R	-	2	0	GAS2L2	31103618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.227000	0.78070	2.847000	0.97988	0.591000	0.81541	CGA		0.572	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		23	153	1	0	1.66031e-10	1	1.76032e-10	23	153				
AKAP12	9590	broad.mit.edu	37	6	151671662	151671662	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:151671662G>A	ENST00000253332.1	+	3	2325	c.2136G>A	c.(2134-2136)caG>caA	p.Q712Q	AKAP12_ENST00000402676.2_Silent_p.Q712Q|AKAP12_ENST00000354675.6_Silent_p.Q614Q|AKAP12_ENST00000359755.5_Silent_p.Q607Q			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	712					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAGACCACCAGAAAGCTGATG	0.537																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(2134-2136)caG>caA		A kinase (PRKA) anchor protein 12							96.0	106.0	103.0					6																	151671662		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671662G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2136G>A	6.37:g.151671662G>A						AKAP12_ENST00000253332.1_Silent_p.Q712Q|AKAP12_ENST00000359755.5_Silent_p.Q607Q|AKAP12_ENST00000354675.6_Silent_p.Q614Q	p.Q712Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2376	+		Ovarian(120;0.125)	712					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.2136G>A	CCDS5229.1																																																																																				0.537	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			76	90	0	0	0	1	0	76	90				
PARP8	79668	broad.mit.edu	37	5	50090900	50090900	+	Silent	SNP	G	G	A	rs549614227		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:50090900G>A	ENST00000281631.5	+	12	1235	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S	PARP8_ENST00000503750.2_Silent_p.S359S|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Silent_p.S359S|PARP8_ENST00000505554.1_Silent_p.S338S|PARP8_ENST00000514067.2_Silent_p.S359S|PARP8_ENST00000514342.2_Silent_p.S112S	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	359						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAATTAAATCGCACAAACTTT	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		20529	0.0		0.0	False		,,,				2504	0.001					ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1075-1077)tcG>tcA		poly (ADP-ribose) polymerase family, member 8							113.0	105.0	108.0					5																	50090900		2203	4300	6503	SO:0001819	synonymous_variant	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50090900G>A	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1077G>A	5.37:g.50090900G>A						PARP8_ENST00000505554.1_Silent_p.S338S|PARP8_ENST00000514342.2_Silent_p.S112S|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Silent_p.S359S|PARP8_ENST00000514067.2_Silent_p.S359S|PARP8_ENST00000503750.2_Silent_p.S359S	p.S359S	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			12	1235	+		Lung NSC(810;0.0305)|Breast(144;0.222)	359					Q3KRB7|Q6DHZ1|Q9H754	Silent	SNP	ENST00000281631.5	37	c.1077G>A	CCDS3954.1																																																																																				0.488	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		23	81	0	0	0	1	0	23	81				
ZSWIM2	151112	broad.mit.edu	37	2	187694508	187694508	+	Silent	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:187694508A>G	ENST00000295131.2	-	8	1080	c.1041T>C	c.(1039-1041)tgT>tgC	p.C347C		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	347					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATGCCTTCAAACAAAGTAGAC	0.398																																						ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(1039-1041)tgT>tgC		zinc finger, SWIM-type containing 2							188.0	174.0	179.0					2																	187694508		2203	4300	6503	SO:0001819	synonymous_variant	151112				apoptosis		zinc ion binding	g.chr2:187694508A>G	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1041T>C	2.37:g.187694508A>G							p.C347C	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		8	1080	-			347					B3KXV6|Q53SI3|Q57ZY3	Silent	SNP	ENST00000295131.2	37	c.1041T>C	CCDS33348.1																																																																																				0.398	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		16	139	0	0	0	1	0	16	139				
KNG1	3827	broad.mit.edu	37	3	186461543	186461543	+	IGR	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:186461543C>A	ENST00000265023.4	+	0	3435				RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.A382E|KNG1_ENST00000287611.2_Missense_Mutation_p.A418E|RP11-573D15.8_ENST00000354642.2_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		AAGGCAGGGGCAGAGCCAGCA	0.498																																						ENST00000287611.2																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(1252-1254)gCa>gAa		kininogen 1	Ouabain(DB01092)						89.0	84.0	86.0					3																	186461543		2203	4300	6503	SO:0001628	intergenic_variant	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186461543C>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348		3.37:g.186461543C>A						RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.A382E	p.A418E	NM_000893.3	NP_000884.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	11	1520	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		409					A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.1253C>A	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847588	0.51164	.	.	ENSG00000113889	ENST00000287611;ENST00000447445;ENST00000432028	T;T	0.24350	2.01;1.86	4.75	2.97	0.34412	.	.	.	.	.	T	0.21509	0.0518	M	0.61703	1.905	0.21604	N	0.999628	B	0.21821	0.061	B	0.16289	0.015	T	0.35251	-0.9796	9	0.09843	T	0.71	.	6.9599	0.24591	0.0:0.7962:0.0:0.2038	.	418	P01042-2	.	E	418;382;406	ENSP00000287611:A418E;ENSP00000396025:A382E	ENSP00000287611:A418E	A	+	2	0	KNG1	187944237	0.995000	0.38212	0.999000	0.59377	0.990000	0.78478	1.945000	0.40273	0.735000	0.32537	0.655000	0.94253	GCA		0.498	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		6	56	1	0	0.0293803	1	0.0295482	6	56				
VTI1A	143187	broad.mit.edu	37	10	114298011	114298011	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:114298011C>T	ENST00000393077.2	+	5	465	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	VTI1A_ENST00000432306.1_Missense_Mutation_p.H117Y	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	117					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TCAGAGGGCACATCTGCTCGA	0.428			T	TCF7L2	colorectal																																	ENST00000393077.2				Dom	yes		10	10q25.2	143187	T	vesicle transport through interaction with t-SNAREs homolog 1A			E	TCF7L2		colorectal	VTI1A/TCF7L2(8)	0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(349-351)Cat>Tat		vesicle transport through interaction with t-SNAREs 1A							62.0	67.0	66.0					10																	114298011		2203	4300	6503	SO:0001583	missense	143187				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	g.chr10:114298011C>T	BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"""vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"""			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.349C>T	10.37:g.114298011C>T	ENSP00000376792:p.His117Tyr					VTI1A_ENST00000432306.1_Missense_Mutation_p.H117Y	p.H117Y	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN		Epithelial(162;0.0126)|all cancers(201;0.0487)	5	465	+		Colorectal(252;0.0314)|Breast(234;0.183)	117					A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	ENST00000393077.2	37	c.349C>T	CCDS7575.2	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328589	0.60743	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	.	.	.	5.86	5.86	0.93980	Target SNARE coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	N	0.08118	0	0.58432	D	0.999998	P;P	0.41188	0.741;0.586	B;B	0.43052	0.406;0.326	T	0.48990	-0.8985	9	0.59425	D	0.04	-17.2828	20.5632	0.99335	0.0:1.0:0.0:0.0	.	117;117	Q5W0D7;Q96AJ9	.;VTI1A_HUMAN	Y	117	.	ENSP00000376792:H117Y	H	+	1	0	VTI1A	114288001	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.203000	0.77864	2.937000	0.99478	0.650000	0.86243	CAT		0.428	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2			36	59	0	0	0	1	0	36	59				
NTN4	59277	broad.mit.edu	37	12	96077300	96077300	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:96077300G>T	ENST00000343702.4	-	6	1816	c.1368C>A	c.(1366-1368)gaC>gaA	p.D456E	NTN4_ENST00000538383.1_Missense_Mutation_p.D419E|NTN4_ENST00000344911.4_Missense_Mutation_p.D419E|NTN4_ENST00000553059.1_Missense_Mutation_p.D456E	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	456					axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CGGTGATAGGGTCACAGCTCC	0.537																																						ENST00000343702.4																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1366-1368)gaC>gaA		netrin 4							93.0	78.0	83.0					12																	96077300		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96077300G>T	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1368C>A	12.37:g.96077300G>T	ENSP00000340998:p.Asp456Glu					NTN4_ENST00000553059.1_Missense_Mutation_p.D456E|NTN4_ENST00000538383.1_Missense_Mutation_p.D419E|NTN4_ENST00000344911.4_Missense_Mutation_p.D419E	p.D456E	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN			6	1816	-			456					B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.1368C>A	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679465	0.47886	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.41065	1.04;1.01;1.01;1.08	5.74	3.93	0.45458	.	0.045061	0.85682	D	0.000000	T	0.40372	0.1114	M	0.63428	1.95	0.39435	D	0.967142	P;P	0.45283	0.622;0.855	B;B	0.42282	0.336;0.382	T	0.31138	-0.9954	10	0.41790	T	0.15	.	9.4563	0.38756	0.2143:0.0:0.7857:0.0	.	456;456	Q9HB63-2;Q9HB63	.;NET4_HUMAN	E	456;419;419;456	ENSP00000340998:D456E;ENSP00000339436:D419E;ENSP00000444432:D419E;ENSP00000447292:D456E	ENSP00000340998:D456E	D	-	3	2	NTN4	94601431	1.000000	0.71417	0.999000	0.59377	0.409000	0.31022	3.172000	0.50832	0.789000	0.33779	0.591000	0.81541	GAC		0.537	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		5	38	1	0	0.000602214	1	0.000612657	5	38				
KLF3	51274	broad.mit.edu	37	4	38690369	38690369	+	Nonsense_Mutation	SNP	C	C	A	rs150818202		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:38690369C>A	ENST00000261438.5	+	3	526	c.221C>A	c.(220-222)tCg>tAg	p.S74*	KLF3_ENST00000514033.1_Nonsense_Mutation_p.S74*	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	74	Pro-rich.|Repressor domain.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TCACCCCCTTCGGCTGGGAAT	0.562																																						ENST00000261438.5																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(220-222)tCg>tAg		Kruppel-like factor 3 (basic)							72.0	61.0	65.0					4																	38690369		2203	4300	6503	SO:0001587	stop_gained	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38690369C>A	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.221C>A	4.37:g.38690369C>A	ENSP00000261438:p.Ser74*					KLF3_ENST00000514033.1_Nonsense_Mutation_p.S74*	p.S74*	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN			3	526	+			74			Pro-rich.|Repressor domain.		Q6PIR1|Q86TN0|Q9P2X6	Nonsense_Mutation	SNP	ENST00000261438.5	37	c.221C>A	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616531	0.87359	.	.	ENSG00000109787	ENST00000261438;ENST00000514033	.	.	.	6.07	6.07	0.98685	.	0.364651	0.26680	N	0.023058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	74	.	ENSP00000261438:S74X	S	+	2	0	KLF3	38366764	1.000000	0.71417	0.012000	0.15200	0.008000	0.06430	6.682000	0.74528	2.884000	0.98904	0.655000	0.94253	TCG		0.562	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			20	42	1	0	3.99206e-14	1	4.31044e-14	20	42				
KCNQ4	9132	broad.mit.edu	37	1	41303354	41303354	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:41303354G>A	ENST00000347132.5	+	13	1845	c.1763G>A	c.(1762-1764)gGt>gAt	p.G588D	KCNQ4_ENST00000509682.2_Missense_Mutation_p.G534D|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	588	A-domain (Tetramerization).				inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CAAATTGTGGGTCGGGGGCCC	0.622																																						ENST00000347132.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(1762-1764)gGt>gAt		potassium voltage-gated channel, KQT-like subfamily, member 4							24.0	28.0	27.0					1																	41303354		2203	4300	6503	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41303354G>A	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1763G>A	1.37:g.41303354G>A	ENSP00000262916:p.Gly588Asp					KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.G534D	p.G588D	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		13	1845	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	588			A-domain (Tetramerization).		O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.1763G>A	CCDS456.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683533	0.88639	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.99925	-8.03;-8.03	4.64	4.64	0.57946	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99915	0.9960	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.95438	0.8523	10	0.87932	D	0	-13.6914	15.0108	0.71547	0.0:0.0:1.0:0.0	.	534;588	P56696-2;P56696	.;KCNQ4_HUMAN	D	588;534	ENSP00000262916:G588D;ENSP00000423756:G534D	ENSP00000262916:G588D	G	+	2	0	KCNQ4	41075941	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.742000	0.98846	2.140000	0.66376	0.462000	0.41574	GGT		0.622	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		13	15	0	0	0	1	0	13	15				
BMPR1B	658	broad.mit.edu	37	4	96025719	96025719	+	Splice_Site	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:96025719G>A	ENST00000515059.1	+	4	426		c.e4+1		BMPR1B_ENST00000440890.2_Splice_Site|BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000502683.1_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB						BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ATATTTGCAGGTTGGTGATAT	0.413																																						ENST00000515059.1																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.e4+1		bone morphogenetic protein receptor, type IB							98.0	97.0	97.0					4																	96025719		2203	4300	6503	SO:0001630	splice_region_variant	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96025719G>A	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.143+1G>A	4.37:g.96025719G>A						BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000440890.2_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site|BMPR1B_ENST00000502683.1_Splice_Site		NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	4	426	+		Hepatocellular(203;0.114)						B2R953|B4DSV1|P78366	Splice_Site	SNP	ENST00000515059.1	37		CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821095	0.71028	.	.	ENSG00000138696	ENST00000515059;ENST00000506363;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000502683;ENST00000264568;ENST00000394931	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5556	0.91083	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BMPR1B	96244742	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.500000	0.73687	2.676000	0.91093	0.591000	0.81541	.		0.413	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	Intron	21	66	0	0	0	1	0	21	66				
USH2A	7399	broad.mit.edu	37	1	216108138	216108138	+	Splice_Site	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:216108138C>A	ENST00000307340.3	-	38	7507		c.e38-1		USH2A_ENST00000366943.2_Splice_Site	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						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)		TTATTACCTACTGattaaaaa	0.318										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.e38-1		Usher syndrome 2A (autosomal recessive, mild)							50.0	49.0	49.0					1																	216108138		2203	4298	6501	SO:0001630	splice_region_variant	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.chr1:216108138C>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.7121-1G>T	1.37:g.216108138C>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Splice_Site				O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	38	7507	-								Q5VVM9|Q6S362|Q9NS27	Splice_Site	SNP	ENST00000307340.3	37		CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324055	0.60634	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.81	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1778	0.72927	0.0:0.9323:0.0:0.0677	.	.	.	.	.	-1	.	.	.	-	.	.	USH2A	214174761	0.976000	0.34144	0.882000	0.34594	0.763000	0.43281	2.375000	0.44283	1.451000	0.47736	0.655000	0.94253	.		0.318	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Intron	50	122	1	0	7.05377e-20	1	7.80794e-20	50	122				
OR2L8	391190	broad.mit.edu	37	1	248112433	248112433	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:248112433T>C	ENST00000357191.3	+	1	274	c.274T>C	c.(274-276)Tcc>Ccc	p.S92P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	92						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(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CAAGTCTATCTCCTTCACTGG	0.428																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(274-276)Tcc>Ccc		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							276.0	243.0	254.0					1																	248112433		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112433T>C	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.274T>C	1.37:g.248112433T>C	ENSP00000349719:p.Ser92Pro					OR2L13_ENST00000366478.2_Intron	p.S92P	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	274	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		92					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.274T>C	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	T	9.352	1.065814	0.20067	.	.	ENSG00000196936	ENST00000357191	T	0.00737	5.76	1.64	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31450	U	0.007638	T	0.01222	0.0040	M	0.71206	2.165	0.22675	N	0.998863	B	0.33280	0.405	B	0.36289	0.221	T	0.39643	-0.9604	10	0.87932	D	0	.	5.8335	0.18594	0.2356:0.0:0.0:0.7644	.	92	Q8NGY9	OR2L8_HUMAN	P	92	ENSP00000349719:S92P	ENSP00000349719:S92P	S	+	1	0	OR2L8	246179056	0.025000	0.19082	0.194000	0.23346	0.030000	0.12068	0.351000	0.20096	0.752000	0.32923	0.392000	0.25879	TCC		0.428	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			5	443	0	0	0	1	0	5	443				
PML	5371	broad.mit.edu	37	15	74327753	74327753	+	Intron	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:74327753G>A	ENST00000268058.3	+	7	1806				PML_ENST00000565898.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000268059.6_Missense_Mutation_p.V651I|PML_ENST00000569477.1_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.V603I	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCGCCCTGCCGTCCACCGTGG	0.667			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000268059.6				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1951-1953)Gtc>Atc		promyelocytic leukemia							78.0	73.0	75.0					15																	74327753		2198	4297	6495	SO:0001627	intron_variant	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74327753G>A	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+882G>A	15.37:g.74327753G>A						PML_ENST00000435786.2_3'UTR|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000569477.1_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000354026.6_Missense_Mutation_p.V603I|PML_ENST00000565898.1_Intron|PML_ENST00000436891.3_3'UTR	p.V651I	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN			8	2047	+			48					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1951G>A	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027109	0.35797	.	.	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	3.36	-3.79	0.04320	.	.	.	.	.	T	0.20901	0.0503	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.21075	-1.0256	8	0.66056	D	0.02	.	9.3322	0.38030	0.7278:0.0:0.2722:0.0	.	603;651	P29590-13;P29590-8	.;.	I	651;603	.	ENSP00000268059:V651I	V	+	1	0	PML	72114806	0.000000	0.05858	0.000000	0.03702	0.206000	0.24218	-2.663000	0.00849	-0.892000	0.03935	-0.254000	0.11334	GTC		0.667	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		13	90	0	0	0	1	0	13	90				
KIAA0556	23247	broad.mit.edu	37	16	27751362	27751362	+	Splice_Site	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:27751362G>A	ENST00000261588.4	+	15	1763	c.1744G>A	c.(1744-1746)Gat>Aat	p.D582N		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	582						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATGGTTTCAGGATCTTGACAT	0.393																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.e15-1		KIAA0556							81.0	77.0	78.0					16																	27751362		2197	4300	6497	SO:0001630	splice_region_variant	23247							g.chr16:27751362G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1744-1G>A	16.37:g.27751362G>A							p.D582_splice	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			15	1763	+			582					A7E2C2	Splice_Site	SNP	ENST00000261588.4	37	c.1743_splice	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845627	0.91197	.	.	ENSG00000047578	ENST00000261588	T	0.44083	0.93	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	M	0.76328	2.33	0.52099	D	0.99994	D	0.59767	0.986	P	0.51895	0.683	T	0.56667	-0.7941	9	.	.	.	-4.7931	13.4649	0.61247	0.0769:0.0:0.9231:0.0	.	582	O60303	K0556_HUMAN	N	582	ENSP00000261588:D582N	.	D	+	1	0	KIAA0556	27658863	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.595000	0.74109	2.525000	0.85131	0.655000	0.94253	GAT		0.393	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	Missense_Mutation	66	73	0	0	0	1	0	66	73				
SCN5A	6331	broad.mit.edu	37	3	38622444	38622444	+	Missense_Mutation	SNP	G	G	A	rs199473187		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:38622444G>A	ENST00000333535.4	-	17	3355	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	SCN5A_ENST00000443581.1_Missense_Mutation_p.T1069M|SCN5A_ENST00000425664.1_Missense_Mutation_p.T1069M|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000413689.1_Missense_Mutation_p.T1069M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1069M			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1069			T -> M (in LQT3). {ECO:0000269|PubMed:15840476}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCTCCTCCGTGCCCAGGCT	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17231	0.0		0.0	False		,,,				2504	0.0					ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM055518	SCN5A	M		c.(3205-3207)aCg>aTg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						38.0	39.0	39.0					3																	38622444		2153	4254	6407	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38622444G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3206C>T	3.37:g.38622444G>A	ENSP00000328968:p.Thr1069Met					SCN5A_ENST00000451551.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1069M|SCN5A_ENST00000425664.1_Missense_Mutation_p.T1069M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000333535.4_Missense_Mutation_p.T1069M|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1069M	p.T1069M	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	17	3399	-	Medulloblastoma(35;0.163)		1069					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3206C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125569	0.56721	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.12	5.12	0.69794	Sodium ion transport-associated (1);	0.438120	0.20347	N	0.094125	D	0.88005	0.6321	L	0.43923	1.385	0.26130	N	0.980427	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.998;0.999	D;D;P;D;D;P;P	0.67725	0.953;0.95;0.88;0.91;0.91;0.855;0.855	T	0.82204	-0.0573	10	0.56958	D	0.05	.	18.5908	0.91212	0.0:0.0:1.0:0.0	.	1069;1069;1069;1069;1069;1069;1069	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	M	1069	ENSP00000398962:T1069M;ENSP00000398266:T1069M;ENSP00000410257:T1069M;ENSP00000388797:T1069M;ENSP00000397915:T1069M;ENSP00000416634:T1069M;ENSP00000328968:T1069M;ENSP00000399524:T1069M;ENSP00000403355:T1069M;ENSP00000413996:T1069M	ENSP00000328968:T1069M	T	-	2	0	SCN5A	38597448	0.998000	0.40836	0.062000	0.19696	0.357000	0.29423	6.590000	0.74085	2.395000	0.81488	0.561000	0.74099	ACG		0.627	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		29	21	0	0	0	1	0	29	21				
CPS1	1373	broad.mit.edu	37	2	211523412	211523412	+	Splice_Site	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:211523412G>C	ENST00000233072.5	+	31	3952	c.3756G>C	c.(3754-3756)ttG>ttC	p.L1252F	CPS1_ENST00000430249.2_Splice_Site_p.L1258F|CPS1_ENST00000451903.2_Splice_Site_p.L801F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1252	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATGATGTCTTGGTAAGAAATG	0.443																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.e31+1		carbamoyl-phosphate synthase 1, mitochondrial							93.0	85.0	88.0					2																	211523412		2203	4300	6503	SO:0001630	splice_region_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211523412G>C	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3756+1G>C	2.37:g.211523412G>C						CPS1_ENST00000451903.2_Splice_Site_p.L801_splice|CPS1_ENST00000430249.2_Splice_Site_p.L1258_splice	p.L1252_splice	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	31	3952	+			1252			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37	c.3756_splice	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612712	0.87258	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97256	-4.31;-4.31;-4.31	5.76	5.76	0.90799	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.056700	0.64402	D	0.000001	D	0.94066	0.8098	N	0.04203	-0.255	0.80722	D	1	P;P	0.41080	0.737;0.737	P;P	0.46144	0.505;0.505	D	0.95123	0.8248	10	0.87932	D	0	-6.542	19.9595	0.97236	0.0:0.0:1.0:0.0	.	1262;1252	Q59HF8;P31327	.;CPSM_HUMAN	F	1258;1260;1252;801	ENSP00000402608:L1258F;ENSP00000233072:L1252F;ENSP00000406136:L801F	ENSP00000233072:L1252F	L	+	3	2	CPS1	211231657	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.118000	0.94355	2.706000	0.92434	0.563000	0.77884	TTG		0.443	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Missense_Mutation	8	113	0	0	0	1	0	8	113				
CHD3	1107	broad.mit.edu	37	17	7814165	7814165	+	Splice_Site	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:7814165G>A	ENST00000330494.7	+	39	5905	c.5755G>A	c.(5755-5757)Gcc>Acc	p.A1919T	AC025335.1_ENST00000324348.7_RNA|CHD3_ENST00000358181.4_Splice_Site_p.A1885T|CHD3_ENST00000380358.4_Splice_Site_p.A1978T	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1919	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCTGTTCCAGGCCTACCCGCC	0.602																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.e39-1		chromodomain helicase DNA binding protein 3							137.0	152.0	147.0					17																	7814165		2203	4300	6503	SO:0001630	splice_region_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7814165G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5755-1G>A	17.37:g.7814165G>A						CHD3_ENST00000358181.4_Splice_Site_p.A1885_splice|CHD3_ENST00000330494.7_Splice_Site_p.A1919_splice	p.A1978_splice	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			39	5933	+		Prostate(122;0.202)	1919					D3DTQ9|E9PG89|Q9Y4I0	Splice_Site	SNP	ENST00000330494.7	37	c.5931_splice	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.92|11.92	1.782524|1.782524	0.31502|0.31502	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000439235;ENST00000449744	D;D;D|.	0.90197|.	-2.63;-2.56;-2.57|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.165679|.	0.28521|.	N|.	0.015058|.	T|T	0.49338|0.49338	0.1551|0.1551	N|N	0.14661|0.14661	0.345|0.345	0.41952|0.41952	D|D	0.990662|0.990662	P;B;B;B;B|.	0.43477|.	0.808;0.012;0.13;0.041;0.18|.	B;B;B;B;B|.	0.30179|.	0.112;0.007;0.037;0.016;0.016|.	T|T	0.45308|0.45308	-0.9270|-0.9270	9|5	.|.	.|.	.|.	-9.4649|-9.4649	17.0418|17.0418	0.86491|0.86491	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	898;496;1885;1919;1978|.	B4DLC6;B3KWV4;Q12873-2;Q12873;E9PG89|.	.;.;.;CHD3_HUMAN;.|.	T|D	1978;1885;1919|262;156	ENSP00000369716:A1978T;ENSP00000350907:A1885T;ENSP00000332628:A1919T|.	.|.	A|G	+|+	1|2	0|0	CHD3|CHD3	7754890|7754890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.833000|0.833000	0.47200|0.47200	3.253000|3.253000	0.51469|0.51469	2.559000|2.559000	0.86315|0.86315	0.509000|0.509000	0.49947|0.49947	GCC|GGC		0.602	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	Missense_Mutation	24	373	0	0	0	1	0	24	373				
NSD1	64324	broad.mit.edu	37	5	176675267	176675267	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:176675267C>A	ENST00000439151.2	+	11	4628	c.4583C>A	c.(4582-4584)tCt>tAt	p.S1528Y	NSD1_ENST00000354179.4_Missense_Mutation_p.S1259Y|NSD1_ENST00000361032.4_Missense_Mutation_p.S1425Y|NSD1_ENST00000347982.4_Missense_Mutation_p.S1259Y	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1528					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGCCTGCCTCTAAAAAAATG	0.493			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4582-4584)tCt>tAt		nuclear receptor binding SET domain protein 1							89.0	92.0	91.0					5																	176675267		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176675267C>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4583C>A	5.37:g.176675267C>A	ENSP00000395929:p.Ser1528Tyr	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Missense_Mutation_p.S1259Y|NSD1_ENST00000354179.4_Missense_Mutation_p.S1259Y|NSD1_ENST00000361032.4_Missense_Mutation_p.S1425Y	p.S1528Y	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	11	4628	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1528					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4583C>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712583	0.68730	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93811	-3.19;-3.19;-3.19;-3.29	5.22	5.22	0.72569	Zinc finger, FYVE/PHD-type (1);	0.000000	0.53938	D	0.000042	D	0.94282	0.8163	L	0.43152	1.355	0.34867	D	0.743175	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.74674	0.984;0.97;0.965	D	0.95189	0.8306	10	0.36615	T	0.2	.	12.1723	0.54165	0.0:0.9215:0.0:0.0785	.	1259;1425;1528	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Y	1259;1528;1259;1425	ENSP00000346111:S1259Y;ENSP00000395929:S1528Y;ENSP00000343209:S1259Y;ENSP00000354310:S1425Y	ENSP00000343209:S1259Y	S	+	2	0	NSD1	176607873	0.868000	0.29978	0.986000	0.45419	0.995000	0.86356	2.700000	0.47085	2.425000	0.82216	0.655000	0.94253	TCT		0.493	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		21	9	1	0	2.98393e-07	1	3.12602e-07	21	9				
CDH8	1006	broad.mit.edu	37	16	61858997	61858997	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:61858997G>A	ENST00000577390.1	-	5	1708	c.754C>T	c.(754-756)Cac>Tac	p.H252Y	CDH8_ENST00000577730.1_Missense_Mutation_p.H252Y|CDH8_ENST00000299345.6_Missense_Mutation_p.H252Y|CDH8_ENST00000584337.1_Missense_Mutation_p.H252Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	252	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.H252Y(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCACCAGAGTGTCCACCCATA	0.453																																						ENST00000577390.1																			1	Substitution - Missense(1)	p.H252Y(1)	lung(1)	biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(754-756)Cac>Tac		cadherin 8, type 2							134.0	119.0	124.0					16																	61858997		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61858997G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.754C>T	16.37:g.61858997G>A	ENSP00000462701:p.His252Tyr					CDH8_ENST00000584337.1_Missense_Mutation_p.H252Y|CDH8_ENST00000577730.1_Missense_Mutation_p.H252Y|CDH8_ENST00000299345.6_Missense_Mutation_p.H252Y	p.H252Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	5	1708	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	252			Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.754C>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	33	5.237276	0.95240	.	.	ENSG00000150394	ENST00000299345	T	0.58797	0.31	6.02	6.02	0.97574	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	L	0.29908	0.895	0.80722	D	1	D;P	0.89917	1.0;0.922	D;P	0.76071	0.987;0.536	T	0.69932	-0.5011	10	0.72032	D	0.01	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	68;252	Q3LID3;P55286	.;CADH8_HUMAN	Y	252	ENSP00000299345:H252Y	ENSP00000299345:H252Y	H	-	1	0	CDH8	60416498	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.807000	0.99171	2.857000	0.98124	0.650000	0.86243	CAC		0.453	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		4	83	0	0	0	1	0	4	83				
MRPL1	65008	broad.mit.edu	37	4	78815401	78815401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:78815401C>T	ENST00000315567.8	+	6	996	c.667C>T	c.(667-669)Cga>Tga	p.R223*	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	223					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AAAGCTTTCTCGAAGTAAGAG	0.318																																						ENST00000315567.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						c.(667-669)Cga>Tga		mitochondrial ribosomal protein L1							59.0	69.0	65.0					4																	78815401		2203	4297	6500	SO:0001587	stop_gained	65008						RNA binding	g.chr4:78815401C>T	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.667C>T	4.37:g.78815401C>T	ENSP00000315017:p.Arg223*					MRPL1_ENST00000506674.1_3'UTR	p.R223*	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN			6	996	+			223					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Nonsense_Mutation	SNP	ENST00000315567.8	37	c.667C>T	CCDS3583.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.52|14.52	2.560595|2.560595	0.45590|0.45590	.|.	.|.	ENSG00000169288|ENSG00000169288	ENST00000315567;ENST00000538314|ENST00000502384	.|T	.|0.38401	.|1.14	5.03|5.03	2.17|2.17	0.27698|0.27698	.|.	0.230174|.	0.43110|.	D|.	0.000610|.	.|T	.|0.38480	.|0.1042	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49370	.|-0.8947	.|5	0.02654|0.72032	T|D	1|0.01	-0.8367|-0.8367	5.8489|5.8489	0.18681|0.18681	0.4173:0.4852:0.0:0.0975|0.4173:0.4852:0.0:0.0975	.|.	.|.	.|.	.|.	X|L	223;201|176	.|ENSP00000421616:S176L	ENSP00000315017:R223X|ENSP00000421616:S176L	R|S	+|+	1|2	2|0	MRPL1|MRPL1	79034425|79034425	0.598000|0.598000	0.26882|0.26882	0.039000|0.039000	0.18376|0.18376	0.033000|0.033000	0.12548|0.12548	1.383000|1.383000	0.34385|0.34385	0.181000|0.181000	0.19994|0.19994	0.555000|0.555000	0.69702|0.69702	CGA|TCG		0.318	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236		27	120	0	0	0	1	0	27	120				
SEC16B	89866	broad.mit.edu	37	1	177901895	177901895	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:177901895G>T	ENST00000308284.6	-	23	2959	c.2870C>A	c.(2869-2871)tCa>tAa	p.S957*	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000495165.1_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	957					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGGTGTCAGTGAGAGGCCCAG	0.587																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(2869-2871)tCa>tAa		SEC16 homolog B (S. cerevisiae)							48.0	59.0	55.0					1																	177901895		2004	4155	6159	SO:0001587	stop_gained	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177901895G>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2870C>A	1.37:g.177901895G>T	ENSP00000308339:p.Ser957*					RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000495165.1_5'UTR	p.S957*	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			23	2959	-			957					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Nonsense_Mutation	SNP	ENST00000308284.6	37	c.2870C>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	38	6.964613	0.97967	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	.	.	.	4.6	4.6	0.57074	.	0.676972	0.13685	N	0.369939	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9494	13.0952	0.59188	0.0:0.0:1.0:0.0	.	.	.	.	X	957;642;673	.	ENSP00000239472:S673X	S	-	2	0	AL359075.1	176168518	0.994000	0.37717	0.252000	0.24328	0.006000	0.05464	3.863000	0.56016	2.543000	0.85770	0.563000	0.77884	TCA		0.587	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		5	35	1	0	3.59834e-05	1	3.70355e-05	5	35				
PITPNM2	57605	broad.mit.edu	37	12	123489929	123489929	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:123489929G>A	ENST00000542749.1	-	5	873	c.810C>T	c.(808-810)ctC>ctT	p.L270L	PITPNM2_ENST00000320201.4_Silent_p.L270L|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Silent_p.L270L|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Silent_p.L270L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	270					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGTGCTTGACGAGCTCAGTGG	0.617																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(808-810)ctC>ctT		phosphatidylinositol transfer protein, membrane-associated 2							151.0	118.0	129.0					12																	123489929		2203	4300	6503	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123489929G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.810C>T	12.37:g.123489929G>A						PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Silent_p.L270L|PITPNM2_ENST00000542749.1_Silent_p.L270L|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Silent_p.L270L	p.L270L			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	6	1015	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		270					Q9P271	Silent	SNP	ENST00000542749.1	37	c.810C>T	CCDS9242.1																																																																																				0.617	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		22	62	0	0	0	1	0	22	62				
SLC4A4	8671	broad.mit.edu	37	4	72338564	72338564	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:72338564T>C	ENST00000264485.5	+	14	1897	c.1780T>C	c.(1780-1782)Ttc>Ctc	p.F594L	SLC4A4_ENST00000512686.1_Missense_Mutation_p.F550L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.F594L|SLC4A4_ENST00000351898.6_Missense_Mutation_p.F594L|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Missense_Mutation_p.F550L	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	594					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TCTGATTAGCTTCATCTTTAT	0.443																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1648-1650)Ttc>Ctc		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							154.0	150.0	151.0					4																	72338564		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72338564T>C	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1780T>C	4.37:g.72338564T>C	ENSP00000264485:p.Phe594Leu					SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.F594L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.F594L|SLC4A4_ENST00000264485.5_Missense_Mutation_p.F594L|SLC4A4_ENST00000512686.1_Missense_Mutation_p.F550L	p.F550L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		11	1844	+			594					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1648T>C	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019763	0.54576	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	5.44	5.44	0.79542	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71888	0.3393	N	0.12527	0.23	0.80722	D	1	D;B;D;D;B;P	0.89917	1.0;0.264;1.0;0.998;0.276;0.944	D;B;D;D;B;D	0.91635	0.999;0.209;0.999;0.994;0.233;0.946	T	0.67158	-0.5741	10	0.06757	T	0.87	.	15.509	0.75766	0.0:0.0:0.0:1.0	.	594;594;550;550;574;594	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	L	594;594;594;550;550	ENSP00000264485:F594L;ENSP00000393557:F594L;ENSP00000307349:F594L;ENSP00000422400:F550L;ENSP00000344272:F550L	ENSP00000264485:F594L	F	+	1	0	SLC4A4	72557428	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.040000	0.89188	2.065000	0.61736	0.533000	0.62120	TTC		0.443	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		61	108	0	0	0	1	0	61	108				
PDHA1	5160	broad.mit.edu	37	X	19373837	19373837	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chrX:19373837G>A	ENST00000422285.2	+	8	898	c.793G>A	c.(793-795)Gca>Aca	p.A265T	PDHA1_ENST00000379804.1_5'UTR|PDHA1_ENST00000540249.1_Missense_Mutation_p.A234T|PDHA1_ENST00000379806.5_Missense_Mutation_p.A303T|PDHA1_ENST00000545074.1_Missense_Mutation_p.A272T			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	265					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CGTCCGAGAGGCAACAAGGTT	0.488																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(907-909)Gca>Aca		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						130.0	111.0	117.0					X																	19373837		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19373837G>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.793G>A	X.37:g.19373837G>A	ENSP00000394382:p.Ala265Thr					PDHA1_ENST00000545074.1_Missense_Mutation_p.A272T|PDHA1_ENST00000379804.1_5'UTR|PDHA1_ENST00000540249.1_Missense_Mutation_p.A234T|PDHA1_ENST00000422285.2_Missense_Mutation_p.A265T	p.A303T	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			9	1052	+	Hepatocellular(33;0.183)		265					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.907G>A	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	35	5.589400	0.96590	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000422285	D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73	5.64	5.64	0.86602	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98670	0.9554	M	0.78456	2.415	0.80722	D	1	P;D;D;D;D	0.89917	0.877;1.0;1.0;0.999;1.0	P;D;D;D;D	0.80764	0.678;0.993;0.994;0.959;0.994	D	0.99809	1.1040	10	0.72032	D	0.01	-11.7765	18.9649	0.92692	0.0:0.0:1.0:0.0	.	234;272;265;303;265	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	T	303;272;234;265	ENSP00000369134:A303T;ENSP00000438550:A272T;ENSP00000440761:A234T;ENSP00000394382:A265T	ENSP00000369134:A303T	A	+	1	0	PDHA1	19283758	1.000000	0.71417	0.994000	0.49952	0.945000	0.59286	9.420000	0.97426	2.513000	0.84729	0.594000	0.82650	GCA		0.488	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			12	36	0	0	0	1	0	12	36				
TMCO5A	145942	broad.mit.edu	37	15	38243375	38243375	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:38243375G>T	ENST00000319669.4	+	11	909	c.807G>T	c.(805-807)aaG>aaT	p.K269N	TMCO5A_ENST00000559502.1_Intron|TMCO5A_ENST00000540944.1_Intron	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	269						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						CCTTGTGGAAGCTCAGATGCT	0.453																																						ENST00000319669.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						c.(805-807)aaG>aaT		transmembrane and coiled-coil domains 5A							125.0	108.0	114.0					15																	38243375		2200	4297	6497	SO:0001583	missense	145942					integral to membrane		g.chr15:38243375G>T	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.807G>T	15.37:g.38243375G>T	ENSP00000327234:p.Lys269Asn					TMCO5A_ENST00000540944.1_Intron|TMCO5A_ENST00000559502.1_Intron	p.K269N	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN			11	909	+			269					Q8NA63	Missense_Mutation	SNP	ENST00000319669.4	37	c.807G>T	CCDS10046.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865353	0.51588	.	.	ENSG00000166069	ENST00000319669	.	.	.	4.63	3.7	0.42460	.	0.124255	0.36815	N	0.002383	T	0.54240	0.1846	M	0.63428	1.95	0.80722	D	1	P	0.40731	0.728	B	0.40477	0.33	T	0.56667	-0.7941	9	0.49607	T	0.09	-12.4956	10.604	0.45384	0.0:0.1948:0.8052:0.0	.	269	Q8N6Q1	TMC5A_HUMAN	N	269	.	ENSP00000327234:K269N	K	+	3	2	TMCO5A	36030667	1.000000	0.71417	0.928000	0.36995	0.737000	0.42083	1.327000	0.33746	1.149000	0.42402	0.585000	0.79938	AAG		0.453	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453		25	82	1	0	1.03073e-24	1	1.15547e-24	25	82				
KIAA0556	23247	broad.mit.edu	37	16	27777777	27777777	+	Silent	SNP	C	C	T	rs138259068	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:27777777C>T	ENST00000261588.4	+	20	3976	c.3957C>T	c.(3955-3957)ccC>ccT	p.P1319P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1319						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATAAATCTCCCGAGGACACCT	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18960	0.0		0.0	False		,,,				2504	0.0					ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(3955-3957)ccC>ccT		KIAA0556		C		5,4389	9.9+/-24.2	0,5,2192	51.0	50.0	50.0		3957	-1.6	1.0	16	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIAA0556	NM_015202.2		0,6,6491	TT,TC,CC		0.0116,0.1138,0.0462		1319/1619	27777777	6,12988	2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27777777C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3957C>T	16.37:g.27777777C>T							p.P1319P	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			20	3976	+			1319					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.3957C>T	CCDS32415.1																																																																																				0.612	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		36	35	0	0	0	1	0	36	35				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	54	0	0	0	1	0	5	54				
ZNF280B	140883	broad.mit.edu	37	22	22842418	22842418	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr22:22842418A>G	ENST00000406426.1	-	4	2048	c.1306T>C	c.(1306-1308)Ttt>Ctt	p.F436L	ZNF280B_ENST00000360412.2_Missense_Mutation_p.F436L			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGACAAAAGGGACAAAGC	0.428																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(1306-1308)Ttt>Ctt		zinc finger protein 280B							110.0	105.0	107.0					22																	22842418		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842418A>G	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1306T>C	22.37:g.22842418A>G	ENSP00000385998:p.Phe436Leu					ZNF280B_ENST00000406426.1_Missense_Mutation_p.F436L	p.F436L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	2081	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	436						Missense_Mutation	SNP	ENST00000406426.1	37	c.1306T>C	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754591	0.69648	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.58940	0.3;0.3	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.48333	0.1494	L	0.35487	1.065	0.42761	D	0.993803	P	0.35612	0.512	B	0.36989	0.238	T	0.53330	-0.8454	9	0.52906	T	0.07	-16.5218	12.726	0.57170	1.0:0.0:0.0:0.0	.	436	Q86YH2	Z280B_HUMAN	L	436	ENSP00000385998:F436L;ENSP00000353586:F436L	ENSP00000353586:F436L	F	-	1	0	ZNF280B	21172418	1.000000	0.71417	0.920000	0.36463	0.980000	0.70556	8.122000	0.89584	2.172000	0.68678	0.533000	0.62120	TTT		0.428	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		4	287	0	0	0	1	0	4	287				
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Intron	DEL	TG	TG	-			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:32670247_32670248delTG	ENST00000373602.5	+	5	895				CCDC28B_ENST00000483009.1_Intron|IQCC_ENST00000291358.6_5'Flank|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|CCDC28B_ENST00000421922.2_Frame_Shift_Del_p.C192fs	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B						cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5																																						ENST00000421922.2																			0				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(574-576)tfs		coiled-coil domain containing 28B																																				SO:0001627	intron_variant	79140							g.chr1:32670247_32670248delTG	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.548+26TG>-	1.37:g.32670255_32670256delTG						CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron	p.C192fs			Q9BUN5	CC28B_HUMAN			5	674_675	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	0					A8K789|Q8TBV8	Frame_Shift_Del	DEL	ENST00000373602.5	37	c.574_575delTG	CCDS354.2																																																																																				0.500	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		9	357						9	357	---	---	---	---
HNRNPDL	9987	broad.mit.edu	37	4	83349206	83349210	+	Frame_Shift_Del	DEL	CTTCA	CTTCA	-	rs551027227		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:83349206_83349210delCTTCA	ENST00000295470.5	-	3	910_914	c.735_739delTGAAG	c.(733-741)tctgaagaafs	p.EE246fs	ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000502762.1_Frame_Shift_Del_p.EE246fs|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000602300.1_Frame_Shift_Del_p.EE127fs|HNRNPDL_ENST00000514511.1_Intron|HNRNPDL_ENST00000349655.4_Frame_Shift_Del_p.EE127fs	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	246	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										TTAATTTGTTCTTCAGAAGTATCCG	0.38																																						ENST00000295470.5																			0											c.(733-741)tcaafs		heterogeneous nuclear ribonucleoprotein D-like																																				SO:0001589	frameshift_variant	9987							g.chr4:83349206_83349210delCTTCA	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.735_739delTGAAG	4.37:g.83349206_83349210delCTTCA	ENSP00000295470:p.Glu246fs					HNRNPDL_ENST00000502762.1_Frame_Shift_Del_p.SEE245fs|HNRNPDL_ENST00000349655.4_Frame_Shift_Del_p.SEE126fs|HNRNPDL_ENST00000602300.1_Frame_Shift_Del_p.SEE126fs|HNRNPDL_ENST00000514511.1_Intron	p.SEE245fs	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1					3	910_914	-								Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Frame_Shift_Del	DEL	ENST00000295470.5	37	c.735_739delTGAAG	CCDS3593.1																																																																																				0.380	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		21	95						21	95	---	---	---	---
RIOK2	55781	broad.mit.edu	37	5	96512862	96512865	+	Frame_Shift_Del	DEL	ATAT	ATAT	-	rs2548319	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:96512862_96512865delATAT	ENST00000283109.3	-	4	521_524	c.453_456delATAT	c.(451-456)ctatatfs	p.LY151fs	RIOK2_ENST00000508447.1_Frame_Shift_Del_p.LY151fs|CTD-2215E18.1_ENST00000509481.1_Intron|RNU1-73P_ENST00000383971.1_RNA	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	151							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		GACGAGATAAATATAGCCATGACA	0.328																																						ENST00000283109.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.(451-456)ctfs		RIO kinase 2																																				SO:0001589	frameshift_variant	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96512862_96512865delATAT	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.453_456delATAT	5.37:g.96512862_96512865delATAT	ENSP00000283109:p.Leu151fs					CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Frame_Shift_Del_p.LY151fs	p.LY151fs	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	4	521_524	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	151					D6RDI3|Q9NUT0	Frame_Shift_Del	DEL	ENST00000283109.3	37	c.453_456delATAT	CCDS4089.1																																																																																				0.328	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		39	154						39	154	---	---	---	---
KRT80	144501	broad.mit.edu	37	12	52567385	52567386	+	Splice_Site	INS	-	-	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:52567385_52567386insG	ENST00000394815.2	-	5	926_927	c.829_830insC	c.(829-831)cag>cCag	p.Q277fs	KRT80_ENST00000313234.5_Splice_Site_p.Q277fs	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	277	Coil 2.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CAGCCCCACCTGGCTCCGAGAG	0.649																																					GBM(178;2309 2916 15678 35873)	ENST00000313234.5																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.e5+1		keratin 80																																				SO:0001630	splice_region_variant	144501					keratin filament	structural molecule activity	g.chr12:52567385_52567386insG	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.831+1->C	12.37:g.52567387_52567387dupG						KRT80_ENST00000394815.2_Splice_Site_p.A277_splice	p.A277_splice	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	5	926_927	-			277			Coil 2.|Rod.		Q6P1A5|Q7Z3Q0	Splice_Site	INS	ENST00000394815.2	37	c.831_splice	CCDS8821.2																																																																																				0.649	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507	Frame_Shift_Ins	48	57						48	57	---	---	---	---
KIAA0391	9692	broad.mit.edu	37	14	35592700	35592700	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:35592700delT	ENST00000557565.1	+	2	630	c.249delT	c.(247-249)catfs	p.H83fs	KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000250377.7_5'UTR|PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000603588.1_Intron	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	83					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTCCTCATTTTTTTTTAG	0.423																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(247-249)cafs		KIAA0391							49.0	48.0	48.0					14																	35592700		2203	4300	6503	SO:0001589	frameshift_variant	9692				tRNA processing	mitochondrion		g.chr14:35592700delT	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.249delT	14.37:g.35592700delT	ENSP00000454657:p.His83fs					KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs	p.H83fs			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	630	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		83					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Frame_Shift_Del	DEL	ENST00000557565.1	37	c.249delT	CCDS32063.1																																																																																				0.423	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		9	121						9	121	---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42149883	42149883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:42149883delC	ENST00000320955.6	-	50	8479	c.8252delG	c.(8251-8253)ggcfs	p.G2751fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2751					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCTGGGTGGCCCCCCTGCAG	0.612																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(8251-8253)gcfs		spectrin, beta, non-erythrocytic 5							13.0	17.0	16.0					15																	42149883		2008	4172	6180	SO:0001589	frameshift_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42149883delC	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8252delG	15.37:g.42149883delC	ENSP00000317790:p.Gly2751fs						p.G2751fs	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	50	8479	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2751						Frame_Shift_Del	DEL	ENST00000320955.6	37	c.8252delG																																																																																					0.612	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		9	12						9	12	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		12	233						12	233	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74378976	74378976	+	RNA	DEL	T	T	-	rs35591542		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:74378976delT	ENST00000429810.2	-	0	1086																											ACCTCTTGAAttttttttttt	0.418																																						ENST00000429810.2																			0																																																			0							g.chr16:74378976delT																													16.37:g.74378976delT														0	1086	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.418	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			2	4						2	4	---	---	---	---
UHRF1	29128	broad.mit.edu	37	19	4960949	4960949	+	RNA	DEL	T	T	-	rs146145010	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:4960949delT	ENST00000592666.1	+	0	3092							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TTTGTCTTCCttttttttttt	0.343													|||unknown(HR)	3886	0.775958	0.674	0.7752	5008	,	,		17212	0.7867		0.8728	False		,,,				2504	0.8037					ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1																																						29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4960949delT	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4960949delT										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	3092	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	DEL	ENST00000592666.1	37																																																																																						0.343	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		3	3						3	3	---	---	---	---
LSR	51599	broad.mit.edu	37	19	35757581	35757582	+	Splice_Site	DEL	GC	GC	-			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:35757581_35757582delGC	ENST00000361790.3	+	7	1255_1256	c.1096_1097delGC	c.(1096-1098)gct>t	p.A366fs	LSR_ENST00000427250.1_Splice_Site_p.A210fs|LSR_ENST00000602122.1_Splice_Site_p.A347fs|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000343550.5_5'Flank|LSR_ENST00000354900.3_Splice_Site_p.A347fs|AD000684.2_ENST00000602262.1_RNA|USF2_ENST00000595068.1_5'Flank|USF2_ENST00000222305.3_5'Flank|LSR_ENST00000360798.3_Splice_Site_p.A298fs|LSR_ENST00000347609.4_Intron|USF2_ENST00000379134.3_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	366					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTCTCCCCCAGCTGGTGGCCAA	0.629																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.e6-1		lipolysis stimulated lipoprotein receptor																																				SO:0001630	splice_region_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35757581_35757582delGC	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1097-1GC>-	19.37:g.35757581_35757582delGC						LSR_ENST00000361790.3_Splice_Site_p.A366_splice|LSR_ENST00000354900.3_Splice_Site_p.A347_splice|LSR_ENST00000360798.3_Splice_Site_p.A298_splice|LSR_ENST00000427250.1_Splice_Site_p.A210_splice|LSR_ENST00000347609.4_Intron	p.A347_splice			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		6	1526_1527	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		366					A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Splice_Site	DEL	ENST00000361790.3	37	c.1039_splice	CCDS12450.1																																																																																				0.629	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925	Frame_Shift_Del	7	5						7	5	---	---	---	---
PHLDB3	653583	broad.mit.edu	37	19	43991227	43991227	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:43991227delC	ENST00000292140.5	-	10	1558	c.1198delG	c.(1198-1200)gagfs	p.E400fs		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	400							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CTCCCCCTCTCCCCCCTTTTC	0.572																																						ENST00000292140.5																			0				breast(1)|central_nervous_system(1)|lung(5)	7						c.(1198-1200)agfs		pleckstrin homology-like domain, family B, member 3							12.0	14.0	13.0					19																	43991227		1871	4096	5967	SO:0001589	frameshift_variant	653583							g.chr19:43991227delC		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.1198delG	19.37:g.43991227delC	ENSP00000292140:p.Glu400fs						p.E400fs	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN			10	1558	-		Prostate(69;0.0153)	400					Q8N7Z4	Frame_Shift_Del	DEL	ENST00000292140.5	37	c.1198delG	CCDS12621.2																																																																																				0.572	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			2	4						2	4	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50407958	50407971	+	Frame_Shift_Del	DEL	GTGTCTAGCGCCAC	GTGTCTAGCGCCAC	-	rs567376779|rs13038893	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:50407958_50407971delGTGTCTAGCGCCAC	ENST00000217086.4	-	2	1162_1175	c.1051_1064delGTGGCGCTAGACAC	c.(1051-1065)gtggcgctagacacafs	p.VALDT351fs	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Frame_Shift_Del_p.VALDT351fs|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	351					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAA	0.607																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	GRCh37	CD022744	SALL4	D		c.(1051-1065)afs		spalt-like transcription factor 4																																				SO:0001589	frameshift_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407958_50407971delGTGTCTAGCGCCAC	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1051_1064delGTGGCGCTAGACAC	20.37:g.50407958_50407971delGTGTCTAGCGCCAC	ENSP00000217086:p.Val351fs					SALL4_ENST00000395997.3_Frame_Shift_Del_p.VALDT351fs|SALL4_ENST00000371539.3_Intron	p.VALDT351fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	1162_1175	-			351					A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Del	DEL	ENST00000217086.4	37	c.1051_1064delGTGGCGCTAGACAC	CCDS13438.1																																																																																				0.607	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			18	78						18	78	---	---	---	---
TCFL5	10732	broad.mit.edu	37	20	61488874	61488874	+	Frame_Shift_Del	DEL	C	C	-	rs375740957		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:61488874delC	ENST00000335351.3	-	4	1203	c.1111delG	c.(1111-1113)gccfs	p.A371fs	TCFL5_ENST00000217162.5_Frame_Shift_Del_p.A323fs	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	371					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					CCTTGTGTGGCGGTGGCACCT	0.582																																						ENST00000335351.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9						c.(1111-1113)ccfs		transcription factor-like 5 (basic helix-loop-helix)							120.0	113.0	115.0					20																	61488874		2203	4300	6503	SO:0001589	frameshift_variant	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61488874delC	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1111delG	20.37:g.61488874delC	ENSP00000334294:p.Ala371fs					TCFL5_ENST00000217162.5_Frame_Shift_Del_p.A323fs	p.A371fs	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN			4	1203	-	Breast(26;5.68e-08)		371					O94771|Q9BYW0	Frame_Shift_Del	DEL	ENST00000335351.3	37	c.1111delG	CCDS13506.1																																																																																				0.582	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		19	133						19	133	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15347257	15347258	+	RNA	INS	-	-	A	rs80199214		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr21:15347257_15347258insA	ENST00000344693.5	-	0	736					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		ACCCTGCACAGAAAAAAAGTTG	0.307																																						ENST00000344693.5																			0																																																			391267							g.chr21:15347257_15347258insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15347264_15347264dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.307	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			6	4						6	4	---	---	---	---
