#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
USH1C	10083	broad.mit.edu	37	11	17523526	17523527	+	Splice_Site	INS	-	-	ATGAGGAAGGCTTTGA			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:17523526_17523527insATGAGGAAGGCTTTGA	ENST00000318024.4	-	16	1393_1394	c.1285_1286insTCAAAGCCTTCCTCAT	c.(1285-1287)gat>gTCAAAGCCTTCCTCATat	p.D429fs	USH1C_ENST00000527020.1_Splice_Site_p.D410fs|USH1C_ENST00000005226.7_Splice_Site_p.D729fs|USH1C_ENST00000527720.1_Splice_Site_p.D398fs|USH1C_ENST00000529563.1_5'UTR	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	429					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTTCCGGAAATCCTGGAAGCAA	0.54																																						ENST00000005226.7		NA																	0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(2185-2187)gat>gTCAAAGCCTTCCTCATat		Usher syndrome 1C (autosomal recessive, severe)																																				SO:0001630	splice_region_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17523526_17523527insATGAGGAAGGCTTTGA	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-1->TCAAAGCCTTCCTCAT	11.37:g.17523526_17523527insATGAGGAAGGCTTTGA		False	False		Somatic	0				USH1C_ENST00000527020.1_Splice_Site_p.D410fs|USH1C_ENST00000527720.1_Splice_Site_p.D398fs|USH1C_ENST00000318024.4_Splice_Site_p.D429fs|USH1C_ENST00000529563.1_5'UTR	p.D729fs	NM_153676.3	NP_710142.1	WXS	Illumina HiSeq	Phase_I	Q9Y6N9	USH1C_HUMAN			21	2184_2185	-			429					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Splice_Site	INS	ENST00000318024.4	37	c.2185_2186insTCAAAGCCTTCCTCAT	CCDS31438.1																																																																																				0.540	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	0	NM_005709	Frame_Shift_Ins	11:17523526
CASQ2	845	broad.mit.edu	37	1	116243875	116243877	+	In_Frame_Del	DEL	TCG	TCG	-	rs7413162|rs368007942|rs397516641	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:116243875_116243877delTCG	ENST00000261448.5	-	11	1424_1426	c.1185_1187delCGA	c.(1183-1188)gacgat>gat	p.395_396DD>D	CASQ2_ENST00000456138.2_In_Frame_Del_p.324_325DD>D	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	395	Asp/Glu-rich (acidic).				cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		Ttcatcatcatcgtcatcactgt	0.404														7	0.00139776	0.0	0.0029	5008	,	,		24503	0.0		0.005	False		,,,				2504	0.0					ENST00000261448.5		NA																	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18						c.(1183-1188)gacgat>gat		calsequestrin 2 (cardiac muscle)																																				SO:0001651	inframe_deletion	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116243875_116243877delTCG	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.1185_1187delCGA	1.37:g.116243875_116243877delTCG	ENSP00000261448:p.Asp398del	True	False		Somatic	1				CASQ2_ENST00000456138.2_In_Frame_Del_p.324_325DD>D	p.395_396DD>D	NM_001232.3	NP_001223.2	WXS	Illumina HiSeq	Phase_I	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	11	1424_1426	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	395			Asp/Glu-rich (acidic).		B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	In_Frame_Del	DEL	ENST00000261448.5	37	c.1185_1187delCGA	CCDS884.1																																																																																				0.404	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	0	NM_001232		1:116243875
GUCY2C	2984	broad.mit.edu	37	12	14774147	14774147	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:14774147delC	ENST00000261170.3	-	23	2741	c.2605delG	c.(2605-2607)gaafs	p.E869fs	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	869	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CCGATGGTTTCCACCTGTGGA	0.433																																						ENST00000261170.3		NA																	0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2605-2607)gaafs		guanylate cyclase 2C (heat stable enterotoxin receptor)							168.0	153.0	158.0					12																	14774147		2203	4300	6503	SO:0001589	frameshift_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14774147delC		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2605delG	12.37:g.14774147delC	ENSP00000261170:p.Glu869fs	True	False		Somatic	2					p.E869fs	NM_004963.3	NP_004954.2	WXS	Illumina HiSeq	Phase_I	P25092	GUC2C_HUMAN			23	2741	-			869			Guanylate cyclase.		B2RMY6	Frame_Shift_Del	DEL	ENST00000261170.3	37	c.2605delG	CCDS8664.1																																																																																				0.433	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1	0			12:14774147
NBPF12	149013	broad.mit.edu	37	1	146459553	146459556	+	Frame_Shift_Del	DEL	GATA	GATA	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	GATA	GATA	-	-	GATA	GATA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:146459553_146459556delGATA	ENST00000442909.2	+	74	9630_9633	c.8794_8797delGATA	c.(8794-8799)gatagafs	p.DR2932fs	NBPF12_ENST00000537773.1_3'UTR|NBPF12_ENST00000446080.2_Intron|NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Intron			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	114						cytoplasm (GO:0005737)				ovary(2)	2						GGACTCACTGGATAGATGTTATTC	0.466																																						ENST00000442909.2		NA																	0				ovary(2)	2						c.(8794-8799)gatagafs		neuroblastoma breakpoint family, member 12																																				SO:0001589	frameshift_variant	149013							g.chr1:146459553_146459556delGATA	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.8794_8797delGATA	1.37:g.146459553_146459556delGATA	ENSP00000391116:p.Asp2932fs	False	False		Somatic	1				NBPF12_ENST00000446080.2_Intron|NBPF12_ENST00000537773.1_3'UTR|NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Intron	p.DR2932fs			WXS	Illumina HiSeq	Phase_I					74	9630_9633	+			NA					O95877	Frame_Shift_Del	DEL	ENST00000442909.2	37	c.8794_8797delGATA																																																																																					0.466	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	0	XM_003119146		1:146459553
RNF43	54894	broad.mit.edu	37	17	56439980	56439980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:56439980delT	ENST00000584437.1	-	5	2567	c.612delA	c.(610-612)acafs	p.T204fs	RNF43_ENST00000500597.2_Frame_Shift_Del_p.T163fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.T204fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.T163fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.T77fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.T204fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Del_p.T77fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	204					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCCACCACTGTCATTAGGA	0.592																																						ENST00000584437.1		NA																	0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(610-612)acafs		ring finger protein 43							111.0	93.0	99.0					17																	56439980		2203	4300	6503	SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56439980delT		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.612delA	17.37:g.56439980delT	ENSP00000463069:p.Thr204fs	False	False		Somatic	1				RNF43_ENST00000581868.1_Frame_Shift_Del_p.T77fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.T204fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.T204fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.T163fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.T163fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Frame_Shift_Del_p.T77fs	p.T204fs			WXS	Illumina HiSeq	Phase_I	Q68DV7	RNF43_HUMAN			5	2567	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		204					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	37	c.612delA	CCDS11607.1																																																																																				0.592	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	0	NM_017763		17:56439980
GATA6	2627	broad.mit.edu	37	18	19780689	19780690	+	Frame_Shift_Ins	INS	-	-	ATTGGTGCTC			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:19780689_19780690insATTGGTGCTC	ENST00000269216.3	+	7	1968_1969	c.1691_1692insATTGGTGCTC	c.(1690-1695)ggtcaafs	p.Q565fs	GATA6_ENST00000581694.1_Frame_Shift_Ins_p.Q565fs|RP11-627G18.1_ENST00000583442.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	565					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			AAGTATTCGGGTCAAGATGGGC	0.649																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3		NA																	0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(1690-1695)ggtcaafs		GATA binding protein 6																																				SO:0001589	frameshift_variant	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19780689_19780690insATTGGTGCTC	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	Exception_encountered	18.37:g.19780689_19780690insATTGGTGCTC	ENSP00000269216:p.Gln565fs	True	False		Somatic	0				GATA6_ENST00000581694.1_Frame_Shift_Ins_p.Q565fs|RP11-627G18.1_ENST00000583442.1_RNA	p.Q565fs	NM_005257.4	NP_005248.2	WXS	Illumina HiSeq	Phase_I	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		7	1968_1969	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		565					B0YJ17|P78327	Frame_Shift_Ins	INS	ENST00000269216.3	37	c.1691_1692insATTGGTGCTC	CCDS11872.1																																																																																				0.649	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	0	NM_005257		18:19780689
SMAD4	4089	broad.mit.edu	37	18	48591908	48591916	+	In_Frame_Del	DEL	TGGAGGAGA	TGGAGGAGA	-	rs121912576		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	TGGAGGAGA	TGGAGGAGA	-	-	TGGAGGAGA	TGGAGGAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:48591908_48591916delTGGAGGAGA	ENST00000342988.3	+	9	1609_1617	c.1071_1079delTGGAGGAGA	c.(1069-1080)tctggaggagat>tct	p.GGD358del	SMAD4_ENST00000588745.1_In_Frame_Del_p.GGD262del|SMAD4_ENST00000398417.2_In_Frame_Del_p.GGD358del	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	358	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.G358*(4)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGACCCTTCTGGAGGAGATCGCTTTTGT	0.411																																						ENST00000588745.1		NA																	42	Whole gene deletion(36)|Substitution - Nonsense(4)|Unknown(2)	p.0?(36)|p.G358*(4)|p.?(2)	pancreas(29)|large_intestine(3)|lung(3)|breast(3)|stomach(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(781-792)tctggaggagat>tct		SMAD family member 4																																				SO:0001651	inframe_deletion	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591908_48591916delTGGAGGAGA	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1071_1079delTGGAGGAGA	18.37:g.48591908_48591916delTGGAGGAGA	ENSP00000341551:p.Gly358_Asp360del	False	False		Somatic	1				SMAD4_ENST00000342988.3_In_Frame_Del_p.GGD358del|SMAD4_ENST00000398417.2_In_Frame_Del_p.GGD358del	p.GGD262del			WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	5	783_791	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	358					A8K405	In_Frame_Del	DEL	ENST00000342988.3	37	c.783_791delTGGAGGAGA	CCDS11950.1																																																																																				0.411	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48591908
IRF3	3661	broad.mit.edu	37	19	50165298	50165299	+	Frame_Shift_Ins	INS	-	-	AACAGCGGGCATG			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:50165298_50165299insAACAGCGGGCATG	ENST00000597198.1	-	6	1269_1270	c.888_889insCATGCCCGCTGTT	c.(886-891)agcgagfs	p.E297fs	IRF3_ENST00000599223.1_Intron|IRF3_ENST00000598808.1_Frame_Shift_Ins_p.E151fs|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000593922.1_Frame_Shift_Ins_p.E151fs|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000599144.1_Frame_Shift_Ins_p.E151fs|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000377139.3_Frame_Shift_Ins_p.E297fs|IRF3_ENST00000601291.1_Frame_Shift_Ins_p.E297fs|IRF3_ENST00000309877.7_Frame_Shift_Ins_p.E297fs|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000600911.1_Frame_Shift_Ins_p.E297fs|IRF3_ENST00000596765.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	297	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AGCAGCTCCTCGCTCACTGCCC	0.663																																						ENST00000597198.1		NA																	0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(886-891)agcgagfs		interferon regulatory factor 3																																				SO:0001589	frameshift_variant	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50165298_50165299insAACAGCGGGCATG		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.888_889insCATGCCCGCTGTT	19.37:g.50165298_50165299insAACAGCGGGCATG	ENSP00000469113:p.Glu297fs	False	False		Somatic	0				IRF3_ENST00000377135.4_Intron|IRF3_ENST00000600911.1_Frame_Shift_Ins_p.E297fs|IRF3_ENST00000593922.1_Frame_Shift_Ins_p.E151fs|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000377139.3_Frame_Shift_Ins_p.E297fs|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000309877.7_Frame_Shift_Ins_p.E297fs|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000598808.1_Frame_Shift_Ins_p.E151fs|IRF3_ENST00000599144.1_Frame_Shift_Ins_p.E151fs|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000601291.1_Frame_Shift_Ins_p.E297fs	p.E297fs			WXS	Illumina HiSeq	Phase_I	Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	6	1269_1270	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	297			Involved in HERC5 binding.		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Frame_Shift_Ins	INS	ENST00000597198.1	37	c.888_889insCATGCCCGCTGTT	CCDS12775.1																																																																																				0.663	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	0	NM_001571		19:50165298
N4BP2	55728	broad.mit.edu	37	4	40115082	40115082	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:40115082delC	ENST00000261435.6	+	7	2034	c.1618delC	c.(1618-1620)cggfs	p.R540fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	540					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGTCCTTTTTCGGGAACCAGA	0.333																																						ENST00000261435.6		NA																	0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1618-1620)cggfs		NEDD4 binding protein 2							110.0	116.0	114.0					4																	40115082		2203	4300	6503	SO:0001589	frameshift_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40115082delC	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1618delC	4.37:g.40115082delC	ENSP00000261435:p.Arg540fs	True	False		Somatic	1					p.R540fs	NM_018177.4	NP_060647.2	WXS	Illumina HiSeq	Phase_I	Q86UW6	N4BP2_HUMAN			7	2034	+			540					A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Del	DEL	ENST00000261435.6	37	c.1618delC	CCDS3457.1																																																																																				0.333	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	0	NM_018177		4:40115082
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs547575066|rs200374378|rs564837143|rs370564777|rs528269773	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548														12	0.00239617	0.0038	0.0	5008	,	,		15547	0.001		0.003	False		,,,				2504	0.0031					ENST00000381793.2		NA																	0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1483-1506)gcggccgcagccgccgcagccgct>gct		RNA binding motif protein 47			,	18,4178		0,18,2080					,	-8.6	0.0			47	62,8154		1,60,4047	no	coding,coding	RBM47	NM_019027.3,NM_001098634.1	,	1,78,6127	A1A1,A1R,RR		0.7546,0.429,0.6445	,	,		80,12332				SO:0001651	inframe_deletion	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	4.37:g.40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENSP00000371212:p.Ala495_Ala501del	True	False		Somatic	1				RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR	p.495_502AAAAAAAA>A			WXS	Illumina HiSeq	Phase_I	A0AV96	RBM47_HUMAN			5	1881_1901	-			495			Ala-rich.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	CCDS43223.1																																																																																				0.548	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	0	NM_019027		4:40434705
SLC6A18	348932	broad.mit.edu	37	5	1239673	1239674	+	Frame_Shift_Ins	INS	-	-	AAAAGCGATGTGT			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:1239673_1239674insAAAAGCGATGTGT	ENST00000324642.3	+	6	964_965	c.841_842insAAAAGCGATGTGT	c.(841-843)cccfs	p.P281fs	SLC6A18_ENST00000296821.4_Frame_Shift_Ins_p.P276fs	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	281					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTACAACTCGCCCAGGTAGGCA	0.599																																						ENST00000324642.3		NA																	0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(841-843)cccfs		solute carrier family 6 (neutral amino acid transporter), member 18																																				SO:0001589	frameshift_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1239673_1239674insAAAAGCGATGTGT	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	Exception_encountered	5.37:g.1239673_1239674insAAAAGCGATGTGT	ENSP00000323549:p.Pro281fs	True	False		Somatic	0				SLC6A18_ENST00000296821.4_Frame_Shift_Ins_p.P276fs	p.P281fs	NM_182632.2	NP_872438.2	WXS	Illumina HiSeq	Phase_I	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	964_965	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		281						Frame_Shift_Ins	INS	ENST00000324642.3	37	c.841_842insAAAAGCGATGTGT	CCDS3860.1																																																																																				0.599	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	0	NM_182632		5:1239673
TTC37	9652	broad.mit.edu	37	5	94852908	94852909	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:94852908_94852909delCT	ENST00000358746.2	-	21	2530_2531	c.2232_2233delAG	c.(2230-2235)ctaggtfs	p.G745fs	TTC37_ENST00000515176.1_5'Flank	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	745						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCTTTCTGACCTAGAAGGACTC	0.411																																						ENST00000358746.2		NA																	0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(2230-2235)ctaggtfs		tetratricopeptide repeat domain 37																																				SO:0001589	frameshift_variant	9652						binding	g.chr5:94852908_94852909delCT	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2232_2233delAG	5.37:g.94852908_94852909delCT	ENSP00000351596:p.Gly745fs	False	False		Somatic	1					p.G745fs	NM_014639.3	NP_055454.1	WXS	Illumina HiSeq	Phase_I	Q6PGP7	TTC37_HUMAN			21	2530_2531	-			745					O15077|Q6PJI3	Frame_Shift_Del	DEL	ENST00000358746.2	37	c.2232_2233delAG	CCDS4072.1																																																																																				0.411	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	0	NM_014639		5:94852908
SLC5A9	200010	broad.mit.edu	37	1	48697238	48697239	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:48697238_48697239delAC	ENST00000438567.2	+	6	684_685	c.632_633delAC	c.(631-633)tacfs	p.Y211fs	RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000236495.5_Frame_Shift_Del_p.Y236fs|SLC5A9_ENST00000533824.1_Frame_Shift_Del_p.Y232fs	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	211					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCCGTGATCTACACAGATGCTC	0.554																																						ENST00000236495.5		NA																	0				breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						c.(706-708)tacfs		solute carrier family 5 (sodium/sugar cotransporter), member 9																																				SO:0001589	frameshift_variant	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48697238_48697239delAC	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.632_633delAC	1.37:g.48697240_48697241delAC	ENSP00000401730:p.Tyr211fs	False	False		Somatic	2				SLC5A9_ENST00000533824.1_Frame_Shift_Del_p.Y232fs|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000438567.2_Frame_Shift_Del_p.Y211fs	p.Y236fs	NM_001135181.1	NP_001128653.1	WXS	Illumina HiSeq	Phase_I	Q2M3M2	SC5A9_HUMAN			7	757_758	+			211					B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Frame_Shift_Del	DEL	ENST00000438567.2	37	c.707_708delAC	CCDS30709.2																																																																																				0.554	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	0	XM_117174		1:48697238
PCLO	27445	broad.mit.edu	37	7	82583922	82583923	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:82583922_82583923delAG	ENST00000333891.9	-	5	6683_6684	c.6346_6347delCT	c.(6346-6348)cttfs	p.L2116fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.L2116fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGAATCTGTAAGAGACGCTCCT	0.436																																						ENST00000423517.2		NA																	0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(6346-6348)cttfs		piccolo presynaptic cytomatrix protein																																				SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583922_82583923delAG	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6346_6347delCT	7.37:g.82583924_82583925delAG	ENSP00000334319:p.Leu2116fs	False	False		Somatic	2				PCLO_ENST00000333891.8_Frame_Shift_Del_p.L2116fs	p.L2116fs	NM_014510.2	NP_055325.2	WXS	Illumina HiSeq	Phase_I	Q9Y6V0	PCLO_HUMAN			5	6683_6684	-			2047						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.6346_6347delCT	CCDS47630.1																																																																																				0.436	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	0	NM_014510		7:82583922
SEMA5A	9037	broad.mit.edu	37	5	9197320	9197320	+	Nonsense_Mutation	SNP	G	G	T	rs200772051		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:9197320G>T	ENST00000382496.5	-	10	1693	c.1028C>A	c.(1027-1029)tCg>tAg	p.S343*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	343	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TAGCCAGGCCGAGCGCGAGTT	0.587																																						ENST00000382496.5		NA																	0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(1027-1029)tCg>tAg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							88.0	86.0	86.0					5																	9197320		2203	4300	6503	SO:0001587	stop_gained	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9197320G>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1028C>A	5.37:g.9197320G>T	ENSP00000371936:p.Ser343*	False	False		Somatic	0					p.S343*	NM_003966.2	NP_003957.2	WXS	Illumina HiSeq	Phase_I	Q13591	SEM5A_HUMAN			10	1693	-			343			Sema.		D3DTC6|O60408|Q1RLL9	Nonsense_Mutation	SNP	ENST00000382496.5	37	c.1028C>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	45	12.020084	0.99627	.	.	ENSG00000112902	ENST00000382496	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7642	0.85520	0.0:0.0:1.0:0.0	.	.	.	.	X	343	.	ENSP00000371936:S343X	S	-	2	0	SEMA5A	9250320	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.574000	0.98184	2.621000	0.88768	0.603000	0.83216	TCG		0.587	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2	0			5:9197320
UBE2E3	10477	broad.mit.edu	37	2	181922476	181922476	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:181922476C>A	ENST00000410062.4	+	4	695	c.302C>A	c.(301-303)cCg>cAg	p.P101Q	UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000392415.2_Missense_Mutation_p.P101Q|UBE2E3_ENST00000602710.1_Missense_Mutation_p.P101Q|UBE2E3_ENST00000602959.1_Missense_Mutation_p.P101Q	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	101				P -> L (in Ref. 3; AAP97266). {ECO:0000305}.	protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						CTTGGTCCACCGGGTTCTGTA	0.343																																						ENST00000410062.4		NA																	0				breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						c.(301-303)cCg>cAg		ubiquitin-conjugating enzyme E2E 3							115.0	121.0	119.0					2																	181922476		2203	4300	6503	SO:0001583	missense	10477				protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr2:181922476C>A	AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"""Ubiquitin-conjugating enzymes E2"""	12479	protein-coding gene	gene with protein product		604151	"""ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"""			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.302C>A	2.37:g.181922476C>A	ENSP00000386788:p.Pro101Gln	True	False		Somatic	0				UBE2E3_ENST00000602710.1_Missense_Mutation_p.P101Q|UBE2E3_ENST00000602959.1_Missense_Mutation_p.P101Q|UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000392415.2_Missense_Mutation_p.P101Q	p.P101Q	NM_006357.2	NP_006348.1	WXS	Illumina HiSeq	Phase_I	Q969T4	UB2E3_HUMAN			4	695	+			101	P -> L (in Ref. 3; AAP97266).				B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Missense_Mutation	SNP	ENST00000410062.4	37	c.302C>A	CCDS2282.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553589	0.65425	.	.	ENSG00000170035	ENST00000430956;ENST00000410114;ENST00000411535;ENST00000392415;ENST00000414657;ENST00000410062;ENST00000426294;ENST00000409247	T;T	0.59906	0.23;0.23	4.88	4.88	0.63580	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.059057	0.64402	D	0.000003	T	0.50786	0.1636	L	0.31157	0.91	0.80722	D	1	B	0.19706	0.038	B	0.25614	0.062	T	0.51411	-0.8709	10	0.72032	D	0.01	.	18.5805	0.91168	0.0:1.0:0.0:0.0	.	101	Q969T4	UB2E3_HUMAN	Q	101	ENSP00000376215:P101Q;ENSP00000386788:P101Q	ENSP00000376215:P101Q	P	+	2	0	UBE2E3	181630721	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.609000	0.82925	2.686000	0.91538	0.585000	0.79938	CCG		0.343	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255795.6	0	NM_006357		2:181922476
ZNF547	284306	broad.mit.edu	37	19	57883234	57883234	+	Missense_Mutation	SNP	C	C	A	rs539742345		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:57883234C>A	ENST00000282282.3	+	3	259	c.109C>A	c.(109-111)Cgt>Agt	p.R37S	AC003002.4_ENST00000597658.1_Missense_Mutation_p.R37S	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTGCTGTACCGTGATGTGAT	0.512																																						ENST00000282282.3		NA																	0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12						c.(109-111)Cgt>Agt		zinc finger protein 547							419.0	380.0	393.0					19																	57883234		2203	4300	6503	SO:0001583	missense	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57883234C>A	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.109C>A	19.37:g.57883234C>A	ENSP00000282282:p.Arg37Ser	True	False		Somatic	0				AC003002.4_ENST00000597658.1_Missense_Mutation_p.R37S	p.R37S	NM_173631.2	NP_775902.2	WXS	Illumina HiSeq	Phase_I	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	259	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	37			KRAB.		A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	c.109C>A	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	C	6.695	0.496785	0.12762	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.02656	4.21	2.01	0.202	0.15190	Krueppel-associated box (4);	.	.	.	.	T	0.06096	0.0158	M	0.92026	3.265	0.09310	N	1	B;B	0.30634	0.288;0.009	B;B	0.28385	0.089;0.015	T	0.21895	-1.0232	9	0.48119	T	0.1	.	3.8214	0.08837	0.0:0.6244:0.0:0.3756	.	37;37	Q8IVP9-2;Q8IVP9	.;ZN547_HUMAN	S	37	ENSP00000282282:R37S	ENSP00000282282:R37S	R	+	1	0	ZNF547	62575046	0.000000	0.05858	0.039000	0.18376	0.709000	0.40893	-1.715000	0.01880	0.084000	0.17077	0.561000	0.74099	CGT		0.512	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	0	NM_173631		19:57883234
SLC27A2	11001	broad.mit.edu	37	15	50497538	50497538	+	Missense_Mutation	SNP	G	G	T	rs554769451		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:50497538G>T	ENST00000267842.5	+	4	1182	c.950G>T	c.(949-951)cGg>cTg	p.R317L	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R264L|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R82L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	317					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GAACTGCTTCGGTATTTATGC	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16554	0.0		0.0	False		,,,				2504	0.0					ENST00000267842.5		NA																	0				NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(949-951)cGg>cTg		solute carrier family 27 (fatty acid transporter), member 2							143.0	117.0	126.0					15																	50497538		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50497538G>T	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.950G>T	15.37:g.50497538G>T	ENSP00000267842:p.Arg317Leu	False	False		Somatic	0				SLC27A2_ENST00000380902.4_Missense_Mutation_p.R264L|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R82L	p.R317L	NM_003645.3	NP_003636.2	WXS	Illumina HiSeq	Phase_I	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	4	1182	+		all_lung(180;0.00177)	317					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.950G>T	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964749	0.74131	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.52754	0.65;0.88;0.88	5.28	3.43	0.39272	AMP-dependent synthetase/ligase (1);	0.114447	0.64402	D	0.000011	T	0.77611	0.4156	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.989	T	0.81642	-0.0840	10	0.87932	D	0	.	9.6524	0.39906	0.167:0.0:0.833:0.0	.	264;317	Q6PF09;O14975	.;S27A2_HUMAN	L	264;317;82	ENSP00000370289:R264L;ENSP00000267842:R317L;ENSP00000444549:R82L	ENSP00000267842:R317L	R	+	2	0	SLC27A2	48284830	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.907000	0.69908	0.827000	0.34685	-0.251000	0.11542	CGG		0.433	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	0	NM_003645		15:50497538
POU4F2	5458	broad.mit.edu	37	4	147560372	147560372	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:147560372C>T	ENST00000281321.3	+	1	328	c.80C>T	c.(79-81)tCg>tTg	p.S27L	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	27					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CCCAAGTACTCGGCACTGCAC	0.706																																						ENST00000281321.3		NA																	0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(79-81)tCg>tTg		POU class 4 homeobox 2							16.0	16.0	16.0					4																	147560372		2153	4223	6376	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560372C>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.80C>T	4.37:g.147560372C>T	ENSP00000281321:p.Ser27Leu	False	False		Somatic	0					p.S27L	NM_004575.2	NP_004566.2	WXS	Illumina HiSeq	Phase_I	Q12837	PO4F2_HUMAN			1	328	+	all_hematologic(180;0.151)		27					B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.80C>T	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437096	0.83885	.	.	ENSG00000151615	ENST00000281321	T	0.35048	1.33	4.77	4.77	0.60923	.	1.187410	0.06496	N	0.735449	T	0.48519	0.1504	L	0.27053	0.805	0.58432	D	0.999999	D	0.58620	0.983	P	0.61201	0.885	T	0.18650	-1.0330	10	0.42905	T	0.14	.	15.2933	0.73882	0.0:1.0:0.0:0.0	.	27	Q12837	PO4F2_HUMAN	L	27	ENSP00000281321:S27L	ENSP00000281321:S27L	S	+	2	0	POU4F2	147779822	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.301000	0.78850	2.189000	0.69895	0.561000	0.74099	TCG		0.706	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	0	NM_004575		4:147560372
MYO9B	4650	broad.mit.edu	37	19	17213368	17213368	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:17213368G>A	ENST00000594824.1	+	2	987		c.e2+1		MYO9B_ENST00000593411.1_Splice_Site|MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000595618.1_Splice_Site			Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGTGCTGGAGGTGAGCGGGGA	0.607																																						ENST00000595618.1		NA																	0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.e2+1		myosin IXB							8.0	9.0	9.0					19																	17213368		1987	4148	6135	SO:0001630	splice_region_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17213368G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.840+1G>A	19.37:g.17213368G>A		False	False		Somatic	0				MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000594824.1_Splice_Site|MYO9B_ENST00000593411.1_Splice_Site		NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	WXS	Illumina HiSeq	Phase_I	Q13459	MYO9B_HUMAN			2	992	+			NA					O75314|Q9NUJ2|Q9UHN0	Splice_Site	SNP	ENST00000594824.1	37			.	.	.	.	.	.	.	.	.	.	G	21.1	4.091562	0.76756	.	.	ENSG00000099331	ENST00000397274	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9365	0.89013	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO9B	17074368	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.459000	0.97638	2.480000	0.83734	0.655000	0.94253	.		0.607	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1	0		Intron	19:17213368
MYH8	4626	broad.mit.edu	37	17	10317271	10317271	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:10317271C>A	ENST00000403437.2	-	12	1189	c.1095G>T	c.(1093-1095)atG>atT	p.M365I	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	365	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTTGAATTTCATGTTCCCAT	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2		NA																	0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1093-1095)atG>atT		myosin, heavy chain 8, skeletal muscle, perinatal							164.0	155.0	158.0					17																	10317271		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10317271C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1095G>T	17.37:g.10317271C>A	ENSP00000384330:p.Met365Ile	True	False		Somatic	0				CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.M365I	NM_002472.2	NP_002463.2	WXS	Illumina HiSeq	Phase_I	P13535	MYH8_HUMAN			12	1189	-			365			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1095G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808986	0.70797	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.85773	-2.03	4.85	4.85	0.62838	Myosin head, motor domain (2);	0.136497	0.32901	U	0.005511	D	0.82600	0.5072	L	0.41124	1.26	0.54753	D	0.999987	B	0.16396	0.017	B	0.27262	0.078	T	0.80202	-0.1480	10	0.87932	D	0	.	18.164	0.89719	0.0:1.0:0.0:0.0	.	365	P13535	MYH8_HUMAN	I	365	ENSP00000384330:M365I	ENSP00000252173:M365I	M	-	3	0	MYH8	10257996	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.836000	0.69375	2.534000	0.85438	0.650000	0.86243	ATG		0.433	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	0	NM_002472		17:10317271
DYNC1I1	1780	broad.mit.edu	37	7	95614201	95614201	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:95614201C>A	ENST00000324972.6	+	8	899	c.706C>A	c.(706-708)Cgg>Agg	p.R236R	DYNC1I1_ENST00000457059.1_Silent_p.R219R|DYNC1I1_ENST00000437599.1_Silent_p.R216R|DYNC1I1_ENST00000359388.4_Silent_p.R199R|DYNC1I1_ENST00000447467.2_Silent_p.R219R|DYNC1I1_ENST00000537881.1_Silent_p.R199R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	236					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTTTTTTGACCGGACAATACG	0.398																																						ENST00000324972.6		NA																	0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(706-708)Cgg>Agg		dynein, cytoplasmic 1, intermediate chain 1							105.0	111.0	109.0					7																	95614201		2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95614201C>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.706C>A	7.37:g.95614201C>A		False	False		Somatic	0				DYNC1I1_ENST00000457059.1_Silent_p.R219R|DYNC1I1_ENST00000537881.1_Silent_p.R199R|DYNC1I1_ENST00000447467.2_Silent_p.R219R|DYNC1I1_ENST00000437599.1_Silent_p.R216R|DYNC1I1_ENST00000359388.4_Silent_p.R199R	p.R236R	NM_004411.4	NP_004402.1	WXS	Illumina HiSeq	Phase_I	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		8	899	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		236					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.706C>A	CCDS5644.1																																																																																				0.398	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	0	NM_004411		7:95614201
TAS2R4	50832	broad.mit.edu	37	7	141478656	141478656	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:141478656G>T	ENST00000247881.2	+	1	415	c.368G>T	c.(367-369)cGg>cTg	p.R123L	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	123					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		CTGCTGAAGCGGAATATCTCC	0.478																																						ENST00000247881.2		NA																	0				endometrium(1)|large_intestine(4)|lung(2)	7						c.(367-369)cGg>cTg		taste receptor, type 2, member 4							171.0	159.0	163.0					7																	141478656		2203	4300	6503	SO:0001583	missense	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478656G>T	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.368G>T	7.37:g.141478656G>T	ENSP00000247881:p.Arg123Leu	False	False		Somatic	0				SSBP1_ENST00000465582.1_Intron	p.R123L	NM_016944.1	NP_058640.1	WXS	Illumina HiSeq	Phase_I	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	415	+	Melanoma(164;0.0171)		123					Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	c.368G>T	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	g	12.56	1.974173	0.34848	.	.	ENSG00000127364	ENST00000247881	T	0.00711	5.8	5.52	4.64	0.57946	.	0.625698	0.16289	N	0.220974	T	0.01800	0.0057	L	0.43554	1.36	0.09310	N	1	P	0.48640	0.913	P	0.56788	0.806	T	0.52533	-0.8563	10	0.41790	T	0.15	.	7.605	0.28097	0.0858:0.1661:0.7482:0.0	.	123	Q9NYW5	TA2R4_HUMAN	L	123	ENSP00000247881:R123L	ENSP00000247881:R123L	R	+	2	0	TAS2R4	141125125	0.003000	0.15002	0.033000	0.17914	0.290000	0.27261	0.174000	0.16743	1.575000	0.49775	0.632000	0.83419	CGG		0.478	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1	0			7:141478656
XCR1	2829	broad.mit.edu	37	3	46062772	46062772	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:46062772G>A	ENST00000309285.3	-	2	1024	c.668C>T	c.(667-669)aCg>aTg	p.T223M	XCR1_ENST00000542109.1_Missense_Mutation_p.T223M	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	223					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGCTTGACCGTGCGGTGGCG	0.582																																						ENST00000309285.3		NA																	0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(667-669)aCg>aTg		chemokine (C motif) receptor 1							68.0	62.0	64.0					3																	46062772		2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46062772G>A		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.668C>T	3.37:g.46062772G>A	ENSP00000310405:p.Thr223Met	False	False		Somatic	0				XCR1_ENST00000542109.1_Missense_Mutation_p.T223M	p.T223M	NM_001024644.1	NP_001019815.1	WXS	Illumina HiSeq	Phase_I	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	1024	-			223						Missense_Mutation	SNP	ENST00000309285.3	37	c.668C>T	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391139	0.62066	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.38887	1.11;1.11	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.109301	0.64402	D	0.000006	T	0.72415	0.3457	M	0.88450	2.955	0.48571	D	0.999674	D	0.89917	1.0	D	0.85130	0.997	T	0.77135	-0.2699	10	0.87932	D	0	.	19.877	0.96880	0.0:0.0:1.0:0.0	.	223	P46094	XCR1_HUMAN	M	223	ENSP00000310405:T223M;ENSP00000438119:T223M	ENSP00000310405:T223M	T	-	2	0	XCR1	46037776	1.000000	0.71417	0.542000	0.28115	0.351000	0.29236	7.903000	0.87398	2.696000	0.92011	0.650000	0.86243	ACG		0.582	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2	0			3:46062772
SCNM1	79005	broad.mit.edu	37	1	151143009	151143009	+	IGR	SNP	C	C	A	rs148198423		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:151143009C>A	ENST00000368905.4	+	0	2016				TMOD4_ENST00000416280.2_Missense_Mutation_p.R265L	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCATTGTTTCGGGTCATGGC	0.537																																						ENST00000416280.2		NA																	0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7						c.(793-795)cGa>cTa		tropomodulin 4 (muscle)							176.0	167.0	170.0					1																	151143009		2203	4300	6503	SO:0001628	intergenic_variant	29765				muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr1:151143009C>A	BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258		1.37:g.151143009C>A		True	False		Somatic	0					p.R265L			WXS	Illumina HiSeq	Phase_I	Q9NZQ9	TMOD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	893	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		334					B4DWR1|Q5JR74	Missense_Mutation	SNP	ENST00000368905.4	37	c.794G>T	CCDS987.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087532	0.55968	.	.	ENSG00000163157	ENST00000295314;ENST00000416280	D;D	0.93859	-3.3;-3.3	5.88	4.0	0.46444	.	0.120572	0.52532	D	0.000062	D	0.92899	0.7741	M	0.86268	2.805	0.80722	D	1	D;P;B	0.56968	0.978;0.546;0.325	P;B;B	0.49752	0.621;0.226;0.176	D	0.93279	0.6658	10	0.87932	D	0	-20.417	9.6355	0.39804	0.0:0.7799:0.0:0.2201	.	265;334;334	B7Z6N9;Q9NZQ9;B2R891	.;TMOD4_HUMAN;.	L	334;265	ENSP00000295314:R334L;ENSP00000414180:R265L	ENSP00000295314:R334L	R	-	2	0	TMOD4	149409633	0.012000	0.17670	0.975000	0.42487	0.986000	0.74619	1.410000	0.34691	1.502000	0.48669	0.561000	0.74099	CGA		0.537	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034064.2	0	NM_024041		1:151143009
RCOR3	55758	broad.mit.edu	37	1	211469083	211469083	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:211469083C>A	ENST00000367005.4	+	8	972	c.831C>A	c.(829-831)ttC>ttA	p.F277L	RCOR3_ENST00000419091.2_Missense_Mutation_p.F335L|RCOR3_ENST00000367006.4_Missense_Mutation_p.F335L|RCOR3_ENST00000452621.2_Missense_Mutation_p.F335L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TTGAAGAATTCAAACCTCCTG	0.353																																						ENST00000367005.4		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(829-831)ttC>ttA		REST corepressor 3							110.0	108.0	109.0					1																	211469083		2203	4300	6503	SO:0001583	missense	55758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr1:211469083C>A	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.831C>A	1.37:g.211469083C>A	ENSP00000355972:p.Phe277Leu	True	False		Somatic	0				RCOR3_ENST00000367006.4_Missense_Mutation_p.F335L|RCOR3_ENST00000452621.2_Missense_Mutation_p.F335L|RCOR3_ENST00000419091.2_Missense_Mutation_p.F335L	p.F277L	NM_018254.3	NP_060724.1	WXS	Illumina HiSeq	Phase_I	Q9P2K3	RCOR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)	8	972	+			277					B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	c.831C>A	CCDS31016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.201|9.201	1.028368|1.028368	0.19512|0.19512	.|.	.|.	ENSG00000117625|ENSG00000117625	ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005;ENST00000529763|ENST00000534460	T;T;T;T;T|.	0.39056|.	1.1;1.1;1.1;1.1;1.1|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Homeodomain-like (1);|.	0.197157|.	0.56097|.	D|.	0.000037|.	T|T	0.46308|0.46308	0.1386|0.1386	N|N	0.10837|0.10837	0.055|0.055	0.48762|0.48762	D|D	0.999706|0.999706	B;B;B;B|.	0.10296|.	0.001;0.0;0.003;0.001|.	B;B;B;B|.	0.11329|.	0.001;0.001;0.006;0.003|.	T|T	0.41106|0.41106	-0.9527|-0.9527	10|5	0.05833|.	T|.	0.94|.	-8.0213|-8.0213	17.0544|17.0544	0.86529|0.86529	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	335;277;335;335|.	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4|.	.;RCOR3_HUMAN;.;.|.	L|K	335;335;335;277;95|122	ENSP00000355973:F335L;ENSP00000398558:F335L;ENSP00000413929:F335L;ENSP00000355972:F277L;ENSP00000437048:F95L|.	ENSP00000355972:F277L|.	F|Q	+|+	3|1	2|0	RCOR3|RCOR3	209535706|209535706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.693000|3.693000	0.54735|0.54735	2.519000|2.519000	0.84933|0.84933	0.655000|0.655000	0.94253|0.94253	TTC|CAA		0.353	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	0	NM_018254		1:211469083
ZC3H12B	340554	broad.mit.edu	37	X	64719034	64719034	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:64719034C>A	ENST00000338957.4	+	3	971	c.904C>A	c.(904-906)Cga>Aga	p.R302R	ZC3H12B_ENST00000423889.3_Silent_p.R291R	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	302							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATAACTACCGAGACCTTCA	0.443																																						ENST00000338957.4		NA																	0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(904-906)Cga>Aga		zinc finger CCCH-type containing 12B							107.0	98.0	101.0					X																	64719034		1891	4098	5989	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64719034C>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.904C>A	X.37:g.64719034C>A		False	False		Somatic	0				ZC3H12B_ENST00000423889.3_Silent_p.R291R	p.R302R	NM_001010888.3	NP_001010888.3	WXS	Illumina HiSeq	Phase_I	Q5HYM0	ZC12B_HUMAN			3	971	+			291					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.904C>A	CCDS48131.2																																																																																				0.443	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	0	XM_293334		X:64719034
SVIL	6840	broad.mit.edu	37	10	29788191	29788191	+	Splice_Site	SNP	C	C	A	rs372472784		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:29788191C>A	ENST00000355867.4	-	18	4270	c.3518G>T	c.(3517-3519)cGg>cTg	p.R1173L	SVIL_ENST00000375398.2_Splice_Site_p.R1173L|SVIL_ENST00000535393.1_Splice_Site_p.R87L|SVIL_ENST00000375400.3_Splice_Site_p.R747L|SVIL_ENST00000538146.1_5'Flank	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1173					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTCTGTGACCCGCTGTTCATA	0.507																																						ENST00000375398.2		NA																	0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(3517-3519)cGg>cTg		supervillin							79.0	68.0	72.0					10																	29788191		2203	4300	6503	SO:0001630	splice_region_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29788191C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3517-1G>T	10.37:g.29788191C>A		True	False		Somatic	0				SVIL_ENST00000355867.4_Splice_Site_p.R1173L|SVIL_ENST00000535393.1_Splice_Site_p.R87L|SVIL_ENST00000375400.3_Splice_Site_p.R747L	p.R1173L			WXS	Illumina HiSeq	Phase_I	O95425	SVIL_HUMAN			20	3967	-		Breast(68;0.103)	1173					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Splice_Site	SNP	ENST00000355867.4	37	c.3518G>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156495	0.38119	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994	T;T;T;T	0.14266	2.63;2.66;2.66;2.52	4.13	2.28	0.28536	.	0.324362	0.34853	N	0.003624	T	0.17195	0.0413	M	0.68952	2.095	0.80722	D	1	B;P;B	0.41159	0.403;0.74;0.38	B;B;B	0.41374	0.119;0.355;0.274	T	0.02042	-1.1224	10	0.59425	D	0.04	-10.9371	10.3423	0.43887	0.0:0.8378:0.0:0.1622	.	87;747;1173	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	L	747;1173;1173;87;127	ENSP00000364549:R747L;ENSP00000364547:R1173L;ENSP00000348128:R1173L;ENSP00000445472:R87L	ENSP00000348128:R1173L	R	-	2	0	SVIL	29828197	0.999000	0.42202	0.998000	0.56505	0.608000	0.37181	2.104000	0.41815	0.417000	0.25871	-1.100000	0.02121	CGG		0.507	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1	0		Missense_Mutation	10:29788191
SEC63	11231	broad.mit.edu	37	6	108233927	108233927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:108233927G>T	ENST00000369002.4	-	6	745	c.566C>A	c.(565-567)tCa>tAa	p.S189*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	189					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CACCAGAATTGAGTTTTTCTG	0.318																																						ENST00000369002.4		NA																	0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(565-567)tCa>tAa		SEC63 homolog (S. cerevisiae)							37.0	38.0	37.0					6																	108233927		2203	4300	6503	SO:0001587	stop_gained	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108233927G>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.566C>A	6.37:g.108233927G>T	ENSP00000357998:p.Ser189*	False	False		Somatic	0					p.S189*	NM_007214.4	NP_009145.1	WXS	Illumina HiSeq	Phase_I	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	6	745	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	189					O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	c.566C>A	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396668	0.96009	.	.	ENSG00000025796	ENST00000369002;ENST00000423697;ENST00000429168	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6283	17.1599	0.86801	0.0:0.0:1.0:0.0	.	.	.	.	X	189;49;133	.	ENSP00000357998:S189X	S	-	2	0	SEC63	108340620	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	8.879000	0.92398	2.480000	0.83734	0.555000	0.69702	TCA		0.318	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	0	NM_007214		6:108233927
FANCI	55215	broad.mit.edu	37	15	89828362	89828362	+	Silent	SNP	C	C	A	rs536499156		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:89828362C>A	ENST00000310775.7	+	18	1820	c.1734C>A	c.(1732-1734)gtC>gtA	p.V578V	FANCI_ENST00000300027.8_Silent_p.V578V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	578					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACAATTCTGTCGCCAATGAAA	0.423								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7		NA																	0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1732-1734)gtC>gtA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							216.0	186.0	196.0					15																	89828362		2200	4299	6499	SO:0001819	synonymous_variant	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89828362C>A	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1734C>A	15.37:g.89828362C>A		False	False		Somatic	0				FANCI_ENST00000300027.8_Silent_p.V578V	p.V578V	NM_001113378.1	NP_001106849.1	WXS	Illumina HiSeq	Phase_I	Q9NVI1	FANCI_HUMAN			18	1820	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		578					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Silent	SNP	ENST00000310775.7	37	c.1734C>A	CCDS45346.1																																																																																				0.423	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	0	NM_018193		15:89828362
NIF3L1	60491	broad.mit.edu	37	2	201760066	201760066	+	Silent	SNP	C	C	A	rs200075304		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:201760066C>A	ENST00000409020.1	+	4	973	c.679C>A	c.(679-681)Cgg>Agg	p.R227R	NIF3L1_ENST00000359683.4_Silent_p.R200R|NIF3L1_ENST00000409588.1_Silent_p.R227R|NIF3L1_ENST00000409357.1_Silent_p.R227R|NIF3L1_ENST00000416651.1_Silent_p.R227R			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	227					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TTTTCTTTCCCGGAACAAACA	0.373																																						ENST00000409020.1		NA																	0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						c.(679-681)Cgg>Agg		NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)							133.0	120.0	124.0					2																	201760066		1828	4087	5915	SO:0001819	synonymous_variant	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201760066C>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.679C>A	2.37:g.201760066C>A		True	False		Somatic	0				NIF3L1_ENST00000359683.4_Silent_p.R200R|NIF3L1_ENST00000409357.1_Silent_p.R227R|NIF3L1_ENST00000416651.1_Silent_p.R227R|NIF3L1_ENST00000409588.1_Silent_p.R227R	p.R227R			WXS	Illumina HiSeq	Phase_I	Q9GZT8	NIF3L_HUMAN			4	973	+			227					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Silent	SNP	ENST00000409020.1	37	c.679C>A	CCDS46485.1																																																																																				0.373	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	0	NM_021824		2:201760066
DDB1	1642	broad.mit.edu	37	11	61070620	61070620	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:61070620C>A	ENST00000301764.7	-	23	3237	c.2840G>T	c.(2839-2841)cGa>cTa	p.R947L	DDB1_ENST00000538470.1_5'UTR|DDB1_ENST00000451943.2_5'Flank|DDB1_ENST00000450997.2_Missense_Mutation_p.R258L	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	947	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATTAAAGTCTCGAGCAATCTT	0.413								Nucleotide excision repair (NER)																														ENST00000301764.7		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2839-2841)cGa>cTa	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							120.0	112.0	115.0					11																	61070620		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61070620C>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2840G>T	11.37:g.61070620C>A	ENSP00000301764:p.Arg947Leu	False	False		Somatic	0				DDB1_ENST00000538470.1_5'UTR|DDB1_ENST00000450997.2_Missense_Mutation_p.R258L	p.R947L	NM_001923.4	NP_001914.3	WXS	Illumina HiSeq	Phase_I	Q16531	DDB1_HUMAN			23	3237	-			947			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.2840G>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121102	0.94385	.	.	ENSG00000167986	ENST00000301764;ENST00000450997;ENST00000539332	T;T;T	0.50548	0.74;0.74;0.74	5.18	5.18	0.71444	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.88310	2.945	0.80722	D	1	D;D	0.63880	0.993;0.966	D;D	0.69142	0.962;0.931	T	0.78886	-0.2027	10	0.56958	D	0.05	-6.7829	18.6942	0.91594	0.0:1.0:0.0:0.0	.	258;947	B4DG00;Q16531	.;DDB1_HUMAN	L	947;258;113	ENSP00000301764:R947L;ENSP00000388705:R258L;ENSP00000439787:R113L	ENSP00000301764:R947L	R	-	2	0	DDB1	60827196	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.802000	0.85969	2.426000	0.82243	0.491000	0.48974	CGA		0.413	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	0	NM_001923		11:61070620
HUNK	30811	broad.mit.edu	37	21	33312484	33312484	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:33312484A>G	ENST00000270112.2	+	3	922	c.562A>G	c.(562-564)Aag>Gag	p.K188E		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CAGAGACTTGAAGATAGAGAA	0.299																																						ENST00000270112.2		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(562-564)Aag>Gag		hormonally up-regulated Neu-associated kinase							125.0	121.0	123.0					21																	33312484		2201	4298	6499	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33312484A>G	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.562A>G	21.37:g.33312484A>G	ENSP00000270112:p.Lys188Glu	False	False		Somatic	0					p.K188E	NM_014586.1	NP_055401.1	WXS	Illumina HiSeq	Phase_I	P57058	HUNK_HUMAN			3	922	+			188			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.562A>G	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698055	0.88830	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	D;D	0.91068	-2.78;-2.78	5.22	5.22	0.72569	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	0.85682	D	0.000000	D	0.97788	0.9274	H	0.99863	4.86	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99437	1.0937	10	0.87932	D	0	-36.0584	15.5563	0.76196	1.0:0.0:0.0:0.0	.	188	P57058	HUNK_HUMAN	E	188;73	ENSP00000270112:K188E;ENSP00000411860:K73E	ENSP00000270112:K188E	K	+	1	0	HUNK	32234355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.186000	0.89706	2.317000	0.78254	0.460000	0.39030	AAG		0.299	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	0	NM_014586		21:33312484
STAP1	26228	broad.mit.edu	37	4	68436855	68436855	+	Silent	SNP	C	C	A	rs575858699		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:68436855C>A	ENST00000265404.2	+	2	256	c.174C>A	c.(172-174)acC>acA	p.T58T	STAP1_ENST00000396225.1_Silent_p.T58T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	58	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TCTTTTATACCGACAAAAAGA	0.328																																						ENST00000265404.2		NA																	0				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						c.(172-174)acC>acA		signal transducing adaptor family member 1							125.0	142.0	137.0					4																	68436855		2203	4298	6501	SO:0001819	synonymous_variant	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68436855C>A	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.174C>A	4.37:g.68436855C>A		False	False		Somatic	0				STAP1_ENST00000396225.1_Silent_p.T58T	p.T58T	NM_012108.2	NP_036240.1	WXS	Illumina HiSeq	Phase_I	Q9ULZ2	STAP1_HUMAN			2	256	+			58			PH.		B2R980	Silent	SNP	ENST00000265404.2	37	c.174C>A	CCDS3515.1																																																																																				0.328	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	0	NM_012108		4:68436855
HMGB1P5	10354	broad.mit.edu	37	3	22424061	22424061	+	RNA	SNP	T	T	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:22424061T>A	ENST00000451497.1	+	0	626									high mobility group box 1 pseudogene 5																		GTAAGATTTGTTTTTAAACTG	0.338																																						ENST00000451497.1		NA																	0					NA																																														0							g.chr3:22424061T>A	AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22424061T>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	626	+			NA						RNA	SNP	ENST00000451497.1	37																																																																																						0.338	HMGB1P5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340803.1	0	NG_000897		3:22424061
UPF3A	65110	broad.mit.edu	37	13	115057115	115057115	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:115057115C>A	ENST00000375299.3	+	7	750	c.694C>A	c.(694-696)Cga>Aga	p.R232R	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Silent_p.R199R	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	232					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R232*(1)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		TTAGAGAATTCgagaagagaa	0.448																																						ENST00000375299.3		NA																	1	Substitution - Nonsense(1)	p.R232*(1)	large_intestine(1)	autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(694-696)Cga>Aga		UPF3 regulator of nonsense transcripts homolog A (yeast)							65.0	65.0	65.0					13																	115057115		2203	4300	6503	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115057115C>A	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.694C>A	13.37:g.115057115C>A		True	False		Somatic	0				UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Silent_p.R199R	p.R232R	NM_023011.3	NP_075387.1	WXS	Illumina HiSeq	Phase_I	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	7	750	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	232					A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.694C>A	CCDS9543.1																																																																																				0.448	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2	0			13:115057115
CT55	54967	broad.mit.edu	37	X	134294414	134294414	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:134294414C>A	ENST00000276241.6	-	3	572	c.346G>T	c.(346-348)Gga>Tga	p.G116*	CXorf48_ENST00000344129.2_Nonsense_Mutation_p.G116*	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		116										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GTAACACATCCAATTAAAACT	0.328																																						ENST00000344129.2		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(346-348)Gga>Tga		chromosome X open reading frame 48							28.0	27.0	27.0					X																	134294414		2202	4298	6500	SO:0001587	stop_gained	54967							g.chrX:134294414C>A																												ENST00000276241.6:c.346G>T	X.37:g.134294414C>A	ENSP00000276241:p.Gly116*	False	False		Somatic	0				CXorf48_ENST00000276241.6_Nonsense_Mutation_p.G116*	p.G116*	NM_017863.2	NP_060333.1	WXS	Illumina HiSeq	Phase_I	Q8WUE5	CX048_HUMAN			3	572	-	Acute lymphoblastic leukemia(192;0.000127)		116					Q9NWY8	Nonsense_Mutation	SNP	ENST00000276241.6	37	c.346G>T	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337580	0.60963	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	.	.	.	2.93	2.03	0.26663	.	1.449800	0.04630	N	0.403407	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-1.3107	5.5897	0.17293	0.0:0.8368:0.0:0.1632	.	.	.	.	X	116	.	ENSP00000276241:G116X	G	-	1	0	CXorf48	134122080	0.710000	0.27896	0.002000	0.10522	0.003000	0.03518	2.725000	0.47294	0.611000	0.30052	0.594000	0.82650	GGA		0.328	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1	0			X:134294414
POMT2	29954	broad.mit.edu	37	14	77751907	77751907	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:77751907G>T	ENST00000261534.4	-	13	1603	c.1401C>A	c.(1399-1401)atC>atA	p.I467I		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	467	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TCAGCACTTTGATCCGGTTTC	0.453																																						ENST00000261534.4		NA																	0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(1399-1401)atC>atA		protein-O-mannosyltransferase 2							287.0	317.0	307.0					14																	77751907		2203	4300	6503	SO:0001819	synonymous_variant	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77751907G>T	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1401C>A	14.37:g.77751907G>T		True	False		Somatic	0					p.I467I	NM_013382.5	NP_037514.2	WXS	Illumina HiSeq	Phase_I	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	13	1603	-			467			MIR 3.		Q9NSG6|Q9P1W0|Q9P1W2	Silent	SNP	ENST00000261534.4	37	c.1401C>A	CCDS9857.1																																																																																				0.453	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	0	NM_013382		14:77751907
OR52E8	390079	broad.mit.edu	37	11	5878217	5878217	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:5878217C>A	ENST00000537935.1	-	1	747	c.716G>T	c.(715-717)cGa>cTa	p.R239L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTTTGAGTCGAGCTTCCCA	0.418																																						ENST00000537935.1		NA																	0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(715-717)cGa>cTa		olfactory receptor, family 52, subfamily E, member 8							81.0	91.0	87.0					11																	5878217		2141	4296	6437	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878217C>A	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.716G>T	11.37:g.5878217C>A	ENSP00000444054:p.Arg239Leu	False	False		Somatic	0				TRIM5_ENST00000380027.1_Intron	p.R239L	NM_001005168.1	NP_001005168.1	WXS	Illumina HiSeq	Phase_I	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	747	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	239					B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.716G>T	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389468	0.42410	.	.	ENSG00000183269	ENST00000537935	T	0.00330	8.08	4.42	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.129746	0.34700	N	0.003757	T	0.00936	0.0031	M	0.93375	3.41	0.09310	N	1	D	0.64830	0.994	D	0.69824	0.966	T	0.24333	-1.0163	10	0.87932	D	0	.	7.2403	0.26092	0.1727:0.7351:0.0:0.0922	.	239	Q6IFG1	O52E8_HUMAN	L	239	ENSP00000444054:R239L	ENSP00000444054:R239L	R	-	2	0	OR52E8	5834793	0.000000	0.05858	0.001000	0.08648	0.792000	0.44763	0.588000	0.23924	1.169000	0.42739	0.549000	0.68633	CGA		0.418	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	0	NM_001005168		11:5878217
ANGPTL7	10218	broad.mit.edu	37	1	11252368	11252368	+	Missense_Mutation	SNP	C	C	A	rs572517061		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:11252368C>A	ENST00000376819.3	+	2	657	c.418C>A	c.(418-420)Cgc>Agc	p.R140S	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	140	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		R -> H (in dbSNP:rs28991002). {ECO:0000269|Ref.6}.		response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GAAGAACTACCGCATCTCTGG	0.512																																						ENST00000376819.3		NA																	0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10						c.(418-420)Cgc>Agc		angiopoietin-like 7							198.0	160.0	173.0					1																	11252368		2203	4300	6503	SO:0001583	missense	10218				response to oxidative stress|signal transduction	extracellular region	receptor binding	g.chr1:11252368C>A	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.418C>A	1.37:g.11252368C>A	ENSP00000366015:p.Arg140Ser	False	False		Somatic	0				MTOR_ENST00000361445.4_Intron	p.R140S	NM_021146.2	NP_066969.1	WXS	Illumina HiSeq	Phase_I	O43827	ANGL7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)	2	657	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	140		R -> H (in dbSNP:rs28991002).	Fibrinogen C-terminal.		B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	c.418C>A	CCDS128.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828114	0.50845	.	.	ENSG00000171819	ENST00000376819	T	0.76578	-1.03	6.17	5.26	0.73747	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.369397	0.31624	N	0.007340	T	0.62514	0.2434	L	0.39692	1.235	0.43080	D	0.994731	P	0.43662	0.814	B	0.36464	0.225	T	0.61797	-0.6989	10	0.08179	T	0.78	.	9.13	0.36839	0.2506:0.6827:0.0:0.0667	.	140	O43827	ANGL7_HUMAN	S	140	ENSP00000366015:R140S	ENSP00000366015:R140S	R	+	1	0	ANGPTL7	11174955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.507000	0.35758	1.626000	0.50381	0.655000	0.94253	CGC		0.512	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	0	NM_021146		1:11252368
GRK4	2868	broad.mit.edu	37	4	3030990	3030990	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:3030990C>A	ENST00000398052.4	+	12	1466	c.1123C>A	c.(1123-1125)Ctg>Atg	p.L375M	GRK4_ENST00000398051.4_Missense_Mutation_p.L343M|GRK4_ENST00000504933.1_Missense_Mutation_p.L375M|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000345167.6_Missense_Mutation_p.L343M	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACTTGGCTGTCTGATCTATGA	0.368																																						ENST00000398052.4		NA																	0				lung(1)|upper_aerodigestive_tract(1)	2						c.(1123-1125)Ctg>Atg		G protein-coupled receptor kinase 4							96.0	96.0	96.0					4																	3030990		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3030990C>A		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1123C>A	4.37:g.3030990C>A	ENSP00000381129:p.Leu375Met	False	False		Somatic	0				GRK4_ENST00000398051.4_Missense_Mutation_p.L343M|GRK4_ENST00000504933.1_Missense_Mutation_p.L375M|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000345167.6_Missense_Mutation_p.L343M	p.L375M	NM_182982.2	NP_892027.2	WXS	Illumina HiSeq	Phase_I	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	12	1466	+			375			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.1123C>A	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321713	0.60634	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.21	3.38	0.38709	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	0.000015	T	0.26738	0.0654	N	0.11724	0.165	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.992;1.0	D;D;D;D	0.97110	1.0;0.989;0.949;1.0	T	0.12578	-1.0542	10	0.62326	D	0.03	-12.6799	4.8167	0.13371	0.0:0.5828:0.1638:0.2534	.	343;343;375;375	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	M	343;375;343;375	ENSP00000381128:L343M;ENSP00000381129:L375M;ENSP00000264764:L343M;ENSP00000427445:L375M	ENSP00000264764:L343M	L	+	1	2	GRK4	3000788	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.647000	0.37260	0.606000	0.29965	0.643000	0.83706	CTG		0.368	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	0	NM_005307		4:3030990
MAP2K4	6416	broad.mit.edu	37	17	12013744	12013744	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:12013744G>T	ENST00000353533.5	+	6	748		c.e6+1		MAP2K4_ENST00000415385.3_Splice_Site|MAP2K4_ENST00000581941.1_Splice_Site	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATTCACAGAGGTGGGTATGGA	0.308			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3		NA		Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.e7+1		mitogen-activated protein kinase kinase 4							89.0	90.0	89.0					17																	12013744		2203	4299	6502	SO:0001630	splice_region_variant	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12013744G>T	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.685+1G>T	17.37:g.12013744G>T		False	False		Somatic	0				MAP2K4_ENST00000581941.1_Splice_Site|MAP2K4_ENST00000353533.5_Splice_Site		NM_001281435.1	NP_001268364.1	WXS	Illumina HiSeq	Phase_I	P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	7	771	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	NA					B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Splice_Site	SNP	ENST00000353533.5	37		CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366763	0.82463	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1455	0.89653	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K4	11954469	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.110000	0.94302	2.639000	0.89480	0.557000	0.71058	.		0.308	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1	0		Intron	17:12013744
SLC38A1	81539	broad.mit.edu	37	12	46623409	46623409	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:46623409C>A	ENST00000398637.5	-	4	830	c.136G>T	c.(136-138)Gat>Tat	p.D46Y	SLC38A1_ENST00000549049.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000552197.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	46					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CTTTCACGATCAGAAATAAAC	0.284																																						ENST00000398637.5		NA																	0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(136-138)Gat>Tat		solute carrier family 38, member 1							106.0	102.0	103.0					12																	46623409		1819	4078	5897	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46623409C>A	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.136G>T	12.37:g.46623409C>A	ENSP00000381634:p.Asp46Tyr	False	False		Somatic	0				SLC38A1_ENST00000549049.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000552197.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D46Y	p.D46Y	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	WXS	Illumina HiSeq	Phase_I	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		4	830	-	Lung SC(27;0.137)|Renal(347;0.236)		46					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.136G>T	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612168	0.66672	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197;ENST00000550173	T;T;T;T;T	0.10382	3.06;3.06;3.06;3.06;2.88	5.32	4.38	0.52667	.	0.458361	0.22316	N	0.061669	T	0.09862	0.0242	N	0.08118	0	0.47153	D	0.999331	B;P;D	0.58970	0.099;0.552;0.984	B;B;P	0.49829	0.019;0.135;0.623	T	0.32268	-0.9913	10	0.45353	T	0.12	-21.6098	15.9161	0.79521	0.1352:0.8648:0.0:0.0	.	46;46;46	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	Y	46	ENSP00000449607:D46Y;ENSP00000398142:D46Y;ENSP00000381634:D46Y;ENSP00000447853:D46Y;ENSP00000449756:D46Y	ENSP00000381634:D46Y	D	-	1	0	SLC38A1	44909676	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.279000	0.43435	2.661000	0.90470	0.650000	0.86243	GAT		0.284	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2	0			12:46623409
KLHL32	114792	broad.mit.edu	37	6	97575296	97575296	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:97575296G>T	ENST00000369261.4	+	8	1734	c.1371G>T	c.(1369-1371)acG>acT	p.T457T	KLHL32_ENST00000539200.1_Silent_p.T388T|KLHL32_ENST00000536676.1_Silent_p.T421T|KLHL32_ENST00000544166.1_Silent_p.T13T	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	457										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TAACTAATACGGCACAATATC	0.318																																						ENST00000369261.4		NA																	0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1369-1371)acG>acT		kelch-like family member 32							149.0	155.0	153.0					6																	97575296		2203	4299	6502	SO:0001819	synonymous_variant	114792							g.chr6:97575296G>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1371G>T	6.37:g.97575296G>T		False	False		Somatic	0				KLHL32_ENST00000539200.1_Silent_p.T388T|KLHL32_ENST00000536676.1_Silent_p.T421T|KLHL32_ENST00000544166.1_Silent_p.T13T	p.T457T	NM_052904.3	NP_443136.2	WXS	Illumina HiSeq	Phase_I	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	8	1734	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	457					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	c.1371G>T	CCDS5038.1																																																																																				0.318	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	0	NM_052904		6:97575296
TPO	7173	broad.mit.edu	37	2	1497610	1497610	+	Missense_Mutation	SNP	G	G	A	rs375314609		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:1497610G>A	ENST00000345913.4	+	11	1896	c.1805G>A	c.(1804-1806)cGc>cAc	p.R602H	TPO_ENST00000337415.3_Missense_Mutation_p.R602H|TPO_ENST00000382198.1_Missense_Mutation_p.R429H|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.R429H|TPO_ENST00000382201.3_Missense_Mutation_p.R545H|TPO_ENST00000329066.4_Missense_Mutation_p.R602H|TPO_ENST00000346956.3_Missense_Mutation_p.R602H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	602					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCTGCCTCGCCTGGAGACC	0.577																																						ENST00000345913.4		NA																	0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1804-1806)cGc>cAc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	52.0	48.0	49.0		1805,1805,1634,1634,1805,1286	4.0	0.0	2		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	602/934,602/934,545/877,545/877,602/890,429/761	1497610	1,13005	2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1497610G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1805G>A	2.37:g.1497610G>A	ENSP00000318820:p.Arg602His	False	False		Somatic	0				TPO_ENST00000382201.3_Missense_Mutation_p.R545H|TPO_ENST00000382198.1_Missense_Mutation_p.R429H|TPO_ENST00000337415.3_Missense_Mutation_p.R602H|TPO_ENST00000346956.3_Missense_Mutation_p.R602H|TPO_ENST00000349624.3_Missense_Mutation_p.R429H|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000329066.4_Missense_Mutation_p.R602H	p.R602H	NM_000547.5	NP_000538.3	WXS	Illumina HiSeq	Phase_I	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	11	1896	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	602					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1805G>A	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.53|13.53	2.266050|2.266050	0.40095|0.40095	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.70749	.|-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.84|4.84	3.96|3.96	0.45880|0.45880	.|.	.|0.089088	.|0.64402	.|D	.|0.000001	D|D	0.82337|0.82337	0.5015|0.5015	M|M	0.84773|0.84773	2.715|2.715	0.36481|0.36481	D|D	0.867864|0.867864	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.78314	.|0.984;0.967;0.976;0.991	D|D	0.84961|0.84961	0.0877|0.0877	5|10	.|0.66056	.|D	.|0.02	-13.2581|-13.2581	6.5333|6.5333	0.22339|0.22339	0.0741:0.1302:0.6611:0.1345|0.0741:0.1302:0.6611:0.1345	.|.	.|602;429;545;602	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	T|H	77|602;602;602;429;602;545;429;531;76	.|ENSP00000337263:R602H;ENSP00000318820:R602H;ENSP00000263886:R602H;ENSP00000332044:R429H;ENSP00000329869:R602H;ENSP00000371636:R545H;ENSP00000371633:R429H;ENSP00000405788:R531H;ENSP00000419461:R76H	.|ENSP00000329869:R602H	A|R	+|+	1|2	0|0	TPO|TPO	1476617|1476617	0.002000|0.002000	0.14202|0.14202	0.002000|0.002000	0.10522|0.10522	0.101000|0.101000	0.19017|0.19017	0.772000|0.772000	0.26647|0.26647	1.151000|1.151000	0.42436|0.42436	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	0	NM_000547		2:1497610
ELL	8178	broad.mit.edu	37	19	18556040	18556040	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:18556040G>T	ENST00000262809.4	-	11	1814	c.1743C>A	c.(1741-1743)atC>atA	p.I581I	CTD-3137H5.1_ENST00000594590.2_RNA|ELL_ENST00000596124.3_Silent_p.I448I	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	581					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TCACCTTTTTGATTTTTCGAT	0.512			T	MLL	AL																																	ENST00000262809.4		NA		Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19						c.(1741-1743)atC>atA		elongation factor RNA polymerase II							214.0	224.0	221.0					19																	18556040		2203	4300	6503	SO:0001819	synonymous_variant	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18556040G>T	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1743C>A	19.37:g.18556040G>T		True	False		Somatic	0				ELL_ENST00000596124.3_Silent_p.I448I	p.I581I	NM_006532.3	NP_006523.1	WXS	Illumina HiSeq	Phase_I	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	11	1814	-			581						Silent	SNP	ENST00000262809.4	37	c.1743C>A	CCDS12380.1																																																																																				0.512	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	0	NM_006532		19:18556040
ABCD3	5825	broad.mit.edu	37	1	94956786	94956786	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:94956786C>A	ENST00000370214.4	+	16	1393	c.1369C>A	c.(1369-1371)Cga>Aga	p.R457R	ABCD3_ENST00000394233.2_Silent_p.R347R|ABCD3_ENST00000536817.1_Silent_p.R384R|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Silent_p.R481R	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	457	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TGTTTTGATCCGAGACCTTAA	0.264																																						ENST00000370214.4		NA																	0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1369-1371)Cga>Aga		ATP-binding cassette, sub-family D (ALD), member 3							51.0	53.0	52.0					1																	94956786		2202	4295	6497	SO:0001819	synonymous_variant	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94956786C>A	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1369C>A	1.37:g.94956786C>A		False	False		Somatic	0				ABCD3_ENST00000454898.2_Silent_p.R481R|ABCD3_ENST00000536817.1_Silent_p.R384R|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Silent_p.R347R	p.R457R	NM_002858.3	NP_002849.1	WXS	Illumina HiSeq	Phase_I	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	16	1393	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	457			ABC transporter.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	37	c.1369C>A	CCDS749.1																																																																																				0.264	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	0	NM_002858		1:94956786
AGO4	192670	broad.mit.edu	37	1	36291547	36291547	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:36291547C>A	ENST00000373210.3	+	6	891	c.646C>A	c.(646-648)Cgg>Agg	p.R216R		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	216					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										TGCTTTCTACCGGGCTCAGCC	0.423																																						ENST00000373210.3		NA																	0					NA						c.(646-648)Cgg>Agg		argonaute RISC catalytic component 4							185.0	184.0	184.0					1																	36291547		2203	4300	6503	SO:0001819	synonymous_variant	192670							g.chr1:36291547C>A	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.646C>A	1.37:g.36291547C>A		True	False		Somatic	0					p.R216R	NM_017629.3	NP_060099.2	WXS	Illumina HiSeq	Phase_I					6	891	+			NA					A7MD27	Silent	SNP	ENST00000373210.3	37	c.646C>A	CCDS397.1																																																																																				0.423	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	0	NM_017629		1:36291547
FAM129A	116496	broad.mit.edu	37	1	184777291	184777291	+	Nonsense_Mutation	SNP	C	C	A	rs371190847		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:184777291C>A	ENST00000367511.3	-	10	1445	c.1252G>T	c.(1252-1254)Gag>Tag	p.E418*	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	418					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGCAGGCGCTCGTGAAGCAGG	0.517																																						ENST00000367511.3		NA																	0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1252-1254)Gag>Tag		family with sequence similarity 129, member A							105.0	110.0	108.0					1																	184777291		2203	4300	6503	SO:0001587	stop_gained	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184777291C>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1252G>T	1.37:g.184777291C>A	ENSP00000356481:p.Glu418*	False	False		Somatic	0				FAM129A_ENST00000487074.1_5'UTR	p.E418*	NM_052966.2	NP_443198.1	WXS	Illumina HiSeq	Phase_I	Q9BZQ8	NIBAN_HUMAN			10	1445	-			418					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Nonsense_Mutation	SNP	ENST00000367511.3	37	c.1252G>T	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	39	7.450749	0.98292	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.23	5.23	0.72850	.	0.159368	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-30.4623	16.9967	0.86369	0.0:1.0:0.0:0.0	.	.	.	.	X	418	.	ENSP00000356481:E418X	E	-	1	0	FAM129A	183043914	1.000000	0.71417	0.933000	0.37362	0.867000	0.49689	5.525000	0.67110	2.438000	0.82558	0.655000	0.94253	GAG		0.517	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1	0			1:184777291
COL3A1	1281	broad.mit.edu	37	2	189858794	189858794	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:189858794G>T	ENST00000304636.3	+	17	1350	c.1180G>T	c.(1180-1182)Ggt>Tgt	p.G394C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G394C	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	394	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TAGTCCTGGTGGTAAAGGCGA	0.373																																						ENST00000304636.3		NA																	0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(1180-1182)Ggt>Tgt		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						134.0	131.0	132.0					2																	189858794		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189858794G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1180G>T	2.37:g.189858794G>T	ENSP00000304408:p.Gly394Cys	False	False		Somatic	0				COL3A1_ENST00000317840.5_Missense_Mutation_p.G394C	p.G394C	NM_000090.3	NP_000081	WXS	Illumina HiSeq	Phase_I	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		17	1350	+			394			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1180G>T	CCDS2297.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.180414|3.180414	0.57800|0.57800	.|.	.|.	ENSG00000168542|ENSG00000168542	ENST00000304636;ENST00000317840|ENST00000450867	D;D|.	0.94376|.	-3.41;-3.41|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.52532|.	D|.	0.000069|.	T|T	0.53706|0.53706	0.1813|0.1813	L|L	0.29908|0.29908	0.895|0.895	0.39856|0.39856	D|D	0.973315|0.973315	D|.	0.76494|.	0.999|.	D|.	0.65323|.	0.934|.	T|T	0.49735|0.49735	-0.8908|-0.8908	10|5	0.56958|.	D|.	0.05|.	.|.	12.7679|12.7679	0.57403|0.57403	0.0824:0.0:0.9176:0.0|0.0824:0.0:0.9176:0.0	.|.	394|.	P02461|.	CO3A1_HUMAN|.	C|L	394|60	ENSP00000304408:G394C;ENSP00000315243:G394C|.	ENSP00000304408:G394C|.	G|W	+|+	1|2	0|0	COL3A1|COL3A1	189567039|189567039	0.787000|0.787000	0.28750|0.28750	0.996000|0.996000	0.52242|0.52242	0.984000|0.984000	0.73092|0.73092	2.172000|2.172000	0.42463|0.42463	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGT|TGG		0.373	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	0	NM_000090		2:189858794
GARNL3	84253	broad.mit.edu	37	9	130027240	130027240	+	Silent	SNP	G	G	T	rs141855938		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:130027240G>T	ENST00000373387.4	+	1	436	c.84G>T	c.(82-84)tcG>tcT	p.S28S	GARNL3_ENST00000435213.2_Silent_p.S6S|GARNL3_ENST00000314904.5_Silent_p.S28S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	28					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCTCTGTCTCGGAAGACCTAG	0.423																																						ENST00000373387.4		NA																	0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(82-84)tcG>tcT		GTPase activating Rap/RanGAP domain-like 3							252.0	239.0	243.0					9																	130027240		2203	4300	6503	SO:0001819	synonymous_variant	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130027240G>T	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.84G>T	9.37:g.130027240G>T		False	False		Somatic	0				GARNL3_ENST00000435213.2_Silent_p.S6S|GARNL3_ENST00000314904.5_Silent_p.S28S	p.S28S	NM_032293.4	NP_115669.3	WXS	Illumina HiSeq	Phase_I	Q5VVW2	GARL3_HUMAN			1	436	+			28					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	c.84G>T	CCDS6869.2																																																																																				0.423	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	0	NM_032293		9:130027240
AP1B1	162	broad.mit.edu	37	22	29763226	29763226	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:29763226C>A	ENST00000405198.1	-	1	38	c.7G>T	c.(7-9)Gac>Tac	p.D3Y	AP1B1_ENST00000357586.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000402502.1_Missense_Mutation_p.D3Y|AP1B1_ENST00000415447.1_Intron|AP1B1_ENST00000317368.7_Missense_Mutation_p.D3Y|AP1B1_ENST00000356015.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000432560.2_Missense_Mutation_p.D3Y			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	3					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TATTTTGAGTCAGTCATTTTG	0.438																																						ENST00000357586.2		NA																	0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(7-9)Gac>Tac		adaptor-related protein complex 1, beta 1 subunit							100.0	96.0	97.0					22																	29763226		2203	4297	6500	SO:0001583	missense	162				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	protein binding|protein transporter activity	g.chr22:29763226C>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.7G>T	22.37:g.29763226C>A	ENSP00000384194:p.Asp3Tyr	True	False		Somatic	0				AP1B1_ENST00000405198.1_Missense_Mutation_p.D3Y|AP1B1_ENST00000317368.7_Missense_Mutation_p.D3Y|AP1B1_ENST00000432560.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000356015.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000402502.1_Missense_Mutation_p.D3Y|AP1B1_ENST00000415447.1_Intron	p.D3Y	NM_001127.3	NP_001118	WXS	Illumina HiSeq	Phase_I	Q10567	AP1B1_HUMAN			2	193	-			3					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.7G>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	c	26.1	4.704187	0.88924	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000421126	T;T;T;T;T;T;T	0.42131	1.05;1.1;1.07;1.05;0.98;1.07;1.24	5.63	5.63	0.86233	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.965;0.988;0.997;0.997	T	0.71543	-0.4561	10	0.87932	D	0	-36.2579	17.1792	0.86850	0.0:1.0:0.0:0.0	.	3;3;3;3	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	Y	3	ENSP00000350199:D3Y;ENSP00000348297:D3Y;ENSP00000400065:D3Y;ENSP00000384194:D3Y;ENSP00000319361:D3Y;ENSP00000386071:D3Y;ENSP00000400022:D3Y	ENSP00000319361:D3Y	D	-	1	0	AP1B1	28093226	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	7.417000	0.80156	2.654000	0.90174	0.651000	0.88453	GAC		0.438	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	0	NM_001127		22:29763226
LRGUK	136332	broad.mit.edu	37	7	133827903	133827903	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:133827903C>A	ENST00000285928.2	+	4	645	c.576C>A	c.(574-576)ccC>ccA	p.P192P		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	192						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TCAAGCCACCCAAAAACCTCA	0.343																																						ENST00000285928.2		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(574-576)ccC>ccA		leucine-rich repeats and guanylate kinase domain containing							135.0	126.0	129.0					7																	133827903		2203	4299	6502	SO:0001819	synonymous_variant	136332						ATP binding|kinase activity	g.chr7:133827903C>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.576C>A	7.37:g.133827903C>A		True	False		Somatic	0					p.P192P	NM_144648.1	NP_653249.1	WXS	Illumina HiSeq	Phase_I	Q96M69	LRGUK_HUMAN			4	645	+			192					Q2M3I1	Silent	SNP	ENST00000285928.2	37	c.576C>A	CCDS5830.1																																																																																				0.343	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	0	NM_144648		7:133827903
LPHN2	23266	broad.mit.edu	37	1	82436119	82436119	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:82436119C>A	ENST00000370728.1	+	18	3488	c.2843C>A	c.(2842-2844)tCa>tAa	p.S948*	LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S935*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S948*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S948*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S873*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S935*			O95490	LPHN2_HUMAN	latrophilin 2	948					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGTGAATATTCAAGGAAAAAA	0.388																																						ENST00000370728.1		NA																	0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2842-2844)tCa>tAa		latrophilin 2							133.0	133.0	133.0					1																	82436119		2203	4300	6503	SO:0001587	stop_gained	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82436119C>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2843C>A	1.37:g.82436119C>A	ENSP00000359763:p.Ser948*	False	False		Somatic	0				LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S948*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S935*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S873*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S948*	p.S948*			WXS	Illumina HiSeq	Phase_I	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	18	3488	+			948					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Nonsense_Mutation	SNP	ENST00000370728.1	37	c.2843C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.738490|12.738490	0.99692|0.99692	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.32971|.	0.0847|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33163|.	-0.9879|.	3|.	.|0.02654	.|T	.|1	.|.	20.1133|20.1133	0.97917|0.97917	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	816|873;948;948;948;948;935;935;935;935;935;948;935;948;948	.|.	.|ENSP00000271029:S948X	Q|S	+|+	1|2	0|0	LPHN2|LPHN2	82208707|82208707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.762000|2.762000	0.94881|0.94881	0.591000|0.591000	0.81541|0.81541	CAA|TCA		0.388	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	0	NM_012302		1:82436119
OR4K5	79317	broad.mit.edu	37	14	20389709	20389709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:20389709C>A	ENST00000315915.4	+	1	969	c.944C>A	c.(943-945)tCa>tAa	p.S315*		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	315						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(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGAAATGTCACTAGTAGTG	0.353																																						ENST00000315915.4		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(943-945)tCa>tAa		olfactory receptor, family 4, subfamily K, member 5							78.0	89.0	85.0					14																	20389709		2197	4299	6496	SO:0001587	stop_gained	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389709C>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.944C>A	14.37:g.20389709C>A	ENSP00000319511:p.Ser315*	False	False		Somatic	0					p.S315*	NM_001005483.1	NP_001005483.1	WXS	Illumina HiSeq	Phase_I	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	969	+	all_cancers(95;0.00108)		315					Q6IFA7	Nonsense_Mutation	SNP	ENST00000315915.4	37	c.944C>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	8.174	0.792368	0.16258	.	.	ENSG00000176281	ENST00000315915	.	.	.	3.86	2.97	0.34412	.	0.722095	0.11958	N	0.513029	.	.	.	.	.	.	0.27428	N	0.954092	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	6.382	0.21540	0.0:0.773:0.0:0.227	.	.	.	.	X	315	.	ENSP00000319511:S315X	S	+	2	0	OR4K5	19459549	0.002000	0.14202	0.078000	0.20375	0.003000	0.03518	0.686000	0.25392	0.963000	0.38082	-0.143000	0.13931	TCA		0.353	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	0	NM_001005483		14:20389709
SPATA22	84690	broad.mit.edu	37	17	3370750	3370750	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:3370750C>A	ENST00000573128.1	-	3	625	c.142G>T	c.(142-144)Gac>Tac	p.D48Y	SPATA22_ENST00000397168.3_Missense_Mutation_p.D48Y|SPATA22_ENST00000541913.1_Intron|SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000268981.5_Missense_Mutation_p.D48Y|SPATA22_ENST00000575375.1_Missense_Mutation_p.D48Y|SPATA22_ENST00000572969.1_Missense_Mutation_p.D48Y			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	48					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TCATAATTGTCAGAAGGGGTA	0.328																																						ENST00000573128.1		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						c.(142-144)Gac>Tac		spermatogenesis associated 22							125.0	125.0	125.0					17																	3370750		2203	4300	6503	SO:0001583	missense	84690							g.chr17:3370750C>A	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.142G>T	17.37:g.3370750C>A	ENSP00000459580:p.Asp48Tyr	False	False		Somatic	0				SPATA22_ENST00000268981.5_Missense_Mutation_p.D48Y|SPATA22_ENST00000575375.1_Missense_Mutation_p.D48Y|SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000397168.3_Missense_Mutation_p.D48Y|SPATA22_ENST00000541913.1_Intron|SPATA22_ENST00000572969.1_Missense_Mutation_p.D48Y	p.D48Y			WXS	Illumina HiSeq	Phase_I	Q8NHS9	SPT22_HUMAN			3	625	-			48					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.142G>T	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	c	16.00	2.998442	0.54147	.	.	ENSG00000141255	ENST00000397168;ENST00000268981	T;T	0.25250	1.89;1.81	5.28	5.28	0.74379	.	0.305336	0.27451	N	0.019319	T	0.34250	0.0891	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.997;0.983	D;P	0.63192	0.912;0.874	T	0.04165	-1.0972	10	0.62326	D	0.03	-14.2456	9.5042	0.39037	0.1592:0.6871:0.1537:0.0	.	48;48	B4DXB1;Q8NHS9	.;SPT22_HUMAN	Y	48	ENSP00000380354:D48Y;ENSP00000268981:D48Y	ENSP00000268981:D48Y	D	-	1	0	SPATA22	3317500	0.726000	0.28059	1.000000	0.80357	0.833000	0.47200	0.667000	0.25112	2.638000	0.89438	0.563000	0.77884	GAC		0.328	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	0	NM_032598		17:3370750
PCYOX1	51449	broad.mit.edu	37	2	70502134	70502134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:70502134G>T	ENST00000433351.2	+	4	566	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	PCYOX1_ENST00000264441.5_Nonsense_Mutation_p.E180*|PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.E102*|PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.E103*	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	180					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAGTAGTGTCGAAAAATTACT	0.423																																						ENST00000433351.2		NA																	0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						c.(538-540)Gaa>Taa		prenylcysteine oxidase 1							140.0	135.0	136.0					2																	70502134		2203	4300	6503	SO:0001587	stop_gained	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70502134G>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.538G>T	2.37:g.70502134G>T	ENSP00000387654:p.Glu180*	True	False		Somatic	0				PCYOX1_ENST00000264441.5_Nonsense_Mutation_p.E180*|PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.E103*|PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.E102*	p.E180*	NM_016297.3	NP_057381.3	WXS	Illumina HiSeq	Phase_I	Q9UHG3	PCYOX_HUMAN			4	566	+			180					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Nonsense_Mutation	SNP	ENST00000433351.2	37	c.538G>T	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	36	5.695587	0.96802	.	.	ENSG00000116005	ENST00000422380;ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000451279;ENST00000545138	.	.	.	5.4	5.4	0.78164	.	0.044521	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-26.5204	17.9005	0.88902	0.0:0.0:1.0:0.0	.	.	.	.	X	103;103;103;180;180;103;102	.	ENSP00000264441:E180X	E	+	1	0	PCYOX1	70355638	1.000000	0.71417	0.965000	0.40720	0.958000	0.62258	9.581000	0.98210	2.811000	0.96726	0.555000	0.69702	GAA		0.423	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	0	NM_016297		2:70502134
NBR1	4077	broad.mit.edu	37	17	41341806	41341806	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:41341806C>A	ENST00000422280.1	+	8	1141	c.682C>A	c.(682-684)Cgc>Agc	p.R228S	NBR1_ENST00000341165.6_Missense_Mutation_p.R228S|NBR1_ENST00000389312.4_Missense_Mutation_p.R228S|NBR1_ENST00000590996.1_Missense_Mutation_p.R228S|NBR1_ENST00000589872.1_Missense_Mutation_p.R228S|NBR1_ENST00000542611.1_Missense_Mutation_p.R207S	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	228					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGTTGGTGTCCGCTACCAGTG	0.438																																						ENST00000422280.1		NA																	0				NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(682-684)Cgc>Agc		neighbor of BRCA1 gene 1							147.0	138.0	141.0					17																	41341806		1919	4137	6056	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41341806C>A	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.682C>A	17.37:g.41341806C>A	ENSP00000411250:p.Arg228Ser	False	False		Somatic	0				NBR1_ENST00000389312.4_Missense_Mutation_p.R228S|NBR1_ENST00000590996.1_Missense_Mutation_p.R228S|NBR1_ENST00000341165.6_Missense_Mutation_p.R228S|NBR1_ENST00000589872.1_Missense_Mutation_p.R228S|NBR1_ENST00000542611.1_Missense_Mutation_p.R207S	p.R228S	NM_031858.2	NP_114064.1	WXS	Illumina HiSeq	Phase_I	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	8	1141	+		Breast(137;0.00086)	228					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.682C>A	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.752959	0.69648	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.96	5.96	0.96718	Zinc finger, ZZ-type (4);	0.054076	0.85682	D	0.000000	D	0.98893	0.9625	H	0.95850	3.73	0.50632	D	0.999887	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	1.0;0.967;1.0	D	0.98914	1.0781	10	0.62326	D	0.03	-12.2893	20.422	0.99049	0.0:1.0:0.0:0.0	.	207;228;228	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	S	228;207;228;228;228	ENSP00000411250:R228S;ENSP00000437545:R207S;ENSP00000343479:R228S;ENSP00000373963:R228S	ENSP00000343479:R228S	R	+	1	0	NBR1	38595332	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.607000	0.61133	2.832000	0.97577	0.655000	0.94253	CGC		0.438	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	0	NM_005899		17:41341806
CBWD1	55871	broad.mit.edu	37	9	172100	172100	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:172100G>T	ENST00000356521.4	-	4	499	c.411C>A	c.(409-411)acC>acA	p.T137T	CBWD1_ENST00000377447.3_Silent_p.T137T|CBWD1_ENST00000314367.10_Silent_p.T101T|CBWD1_ENST00000382447.4_Silent_p.T137T|CBWD1_ENST00000377400.4_Silent_p.T137T|CBWD1_ENST00000431099.2_Silent_p.T101T|CBWD1_ENST00000382393.1_3'UTR	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	137							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTAATCCAGTGGTCTCTAACA	0.338																																						ENST00000377447.3		NA																	0				kidney(1)|lung(2)|ovary(1)|skin(1)	5						c.(409-411)acC>acA		COBW domain containing 1							171.0	178.0	176.0					9																	172100		2203	4297	6500	SO:0001819	synonymous_variant	55871						ATP binding|protein binding	g.chr9:172100G>T	AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.411C>A	9.37:g.172100G>T		False	False		Somatic	0				CBWD1_ENST00000431099.2_Silent_p.T101T|CBWD1_ENST00000382393.1_3'UTR|CBWD1_ENST00000382447.4_Silent_p.T137T|CBWD1_ENST00000314367.10_Silent_p.T101T|CBWD1_ENST00000377400.4_Silent_p.T137T|CBWD1_ENST00000356521.4_Silent_p.T137T	p.T137T			WXS	Illumina HiSeq	Phase_I	Q9BRT8	CBWD1_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	4	466	-	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	137					A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Silent	SNP	ENST00000356521.4	37	c.411C>A	CCDS6438.1																																																																																				0.338	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	0	NM_018491		9:172100
PDE8A	5151	broad.mit.edu	37	15	85607643	85607643	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85607643C>A	ENST00000310298.4	+	3	481	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	PDE8A_ENST00000394553.1_Missense_Mutation_p.Q77K|PDE8A_ENST00000557957.1_Missense_Mutation_p.Q5K|PDE8A_ENST00000339708.5_Missense_Mutation_p.Q77K			O60658	PDE8A_HUMAN	phosphodiesterase 8A	77					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GAGATTTCATCAAGATCAACT	0.363																																						ENST00000310298.4		NA																	0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(229-231)Caa>Aaa		phosphodiesterase 8A							130.0	115.0	120.0					15																	85607643		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85607643C>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.229C>A	15.37:g.85607643C>A	ENSP00000311453:p.Gln77Lys	False	False		Somatic	0				PDE8A_ENST00000339708.5_Missense_Mutation_p.Q77K|PDE8A_ENST00000394553.1_Missense_Mutation_p.Q77K|PDE8A_ENST00000557957.1_Missense_Mutation_p.Q5K	p.Q77K			WXS	Illumina HiSeq	Phase_I	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		3	481	+	Colorectal(223;0.227)		77					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.229C>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056234	0.36277	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.70631	-0.5;-0.5;-0.46	5.65	4.73	0.59995	.	0.201377	0.43579	D	0.000552	T	0.58680	0.2139	L	0.29908	0.895	0.37679	D	0.92342	B;B	0.12013	0.005;0.0	B;B	0.12156	0.007;0.001	T	0.56817	-0.7916	10	0.23891	T	0.37	.	14.3705	0.66836	0.0:0.8508:0.1492:0.0	.	77;77	O60658-2;O60658	.;PDE8A_HUMAN	K	77	ENSP00000311453:Q77K;ENSP00000378056:Q77K;ENSP00000340679:Q77K	ENSP00000311453:Q77K	Q	+	1	0	PDE8A	83408647	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.930000	0.48924	1.368000	0.46115	0.511000	0.50034	CAA		0.363	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	0	NM_002605		15:85607643
HTR2C	3358	broad.mit.edu	37	X	114141360	114141360	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:114141360C>A	ENST00000276198.1	+	6	1487	c.759C>A	c.(757-759)acC>acA	p.T253T	HTR2C_ENST00000371950.3_Silent_p.R222R|HTR2C_ENST00000371951.1_Silent_p.T253T	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	253					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.T253T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACGGCCACACCGAGGAACCGC	0.512																																						ENST00000276198.1		NA																	1	Substitution - coding silent(1)	p.T253T(1)	urinary_tract(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(757-759)acC>acA		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						234.0	215.0	222.0					X																	114141360		2203	4300	6503	SO:0001819	synonymous_variant	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141360C>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.759C>A	X.37:g.114141360C>A		False	False		Somatic	0				HTR2C_ENST00000371951.1_Silent_p.T253T|HTR2C_ENST00000371950.3_Silent_p.R222R	p.T253T	NM_000868.2	NP_000859.1	WXS	Illumina HiSeq	Phase_I	P28335	5HT2C_HUMAN			6	1487	+			253					B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	ENST00000276198.1	37	c.759C>A	CCDS14564.1																																																																																				0.512	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	0	NM_000868		X:114141360
DEFB119	245932	broad.mit.edu	37	20	29976964	29976964	+	Intron	SNP	C	C	T	rs181386606		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:29976964C>T	ENST00000376321.3	-	1	181				DEFB119_ENST00000376315.2_Missense_Mutation_p.R44Q|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.R44Q(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTTACGATTTCGGCAGCGTAT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20317	0.001		0.0	False		,,,				2504	0.0					ENST00000376315.2		NA																	1	Substitution - Missense(1)	p.R44Q(1)	large_intestine(1)	large_intestine(2)|lung(1)|prostate(1)	4						c.(130-132)cGa>cAa		defensin, beta 119		C	,GLN/ARG,	0,4406		0,0,2203	210.0	179.0	190.0		,131,	-7.4	0.0	20		190	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron	DEFB119	NM_153289.2,NM_153323.3,NM_173460.1	,43,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,44/89,	29976964	1,13005	2203	4300	6503	SO:0001627	intron_variant	245932				defense response to bacterium	extracellular region		g.chr20:29976964C>T	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1261G>A	20.37:g.29976964C>T		True	False		Somatic	0				DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376321.3_Intron	p.R44Q	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	WXS	Illumina HiSeq	Phase_I	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	130	-	all_hematologic(12;0.158)		50					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.131G>A	CCDS13178.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.63	2.890815	0.52014	0.0	1.16E-4	ENSG00000180483	ENST00000376315	T	0.12147	2.71	3.71	-7.43	0.01383	.	4.895910	0.00541	N	0.000227	T	0.07548	0.0190	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.17684	-1.0361	9	0.38643	T	0.18	8.8927	1.4233	0.02317	0.1537:0.2175:0.2377:0.3912	.	44	Q8N690-2	.	Q	44	ENSP00000365492:R44Q	ENSP00000365492:R44Q	R	-	2	0	DEFB119	29440625	0.000000	0.05858	0.000000	0.03702	0.955000	0.61496	-2.121000	0.01322	-3.536000	0.00145	-0.251000	0.11542	CGA		0.453	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	0	NM_153289		20:29976964
KLHL24	54800	broad.mit.edu	37	3	183388894	183388894	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:183388894C>A	ENST00000454652.2	+	7	1683	c.1297C>A	c.(1297-1299)Cga>Aga	p.R433R	KLHL24_ENST00000476808.1_Silent_p.R433R|KLHL24_ENST00000242810.6_Silent_p.R433R	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	433						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CTTTTCAAATCGATGGACTGA	0.418																																						ENST00000454652.2		NA																	0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1297-1299)Cga>Aga		kelch-like family member 24							223.0	210.0	214.0					3																	183388894		2203	4300	6503	SO:0001819	synonymous_variant	54800					axon|cytoplasm|perikaryon		g.chr3:183388894C>A		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1297C>A	3.37:g.183388894C>A		False	False		Somatic	0				KLHL24_ENST00000242810.6_Silent_p.R433R|KLHL24_ENST00000476808.1_Silent_p.R433R	p.R433R	NM_017644.3	NP_060114.2	WXS	Illumina HiSeq	Phase_I	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		7	1683	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		NA					A5PLN8|Q9H620|Q9NXT9	Silent	SNP	ENST00000454652.2	37	c.1297C>A	CCDS3246.1																																																																																				0.418	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	0	NM_017644		3:183388894
KRT24	192666	broad.mit.edu	37	17	38857542	38857542	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:38857542C>T	ENST00000264651.2	-	3	761	c.705G>A	c.(703-705)gaG>gaA	p.E235E		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	235	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				ACAGCTCGTTCTCATACCTGG	0.512																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(703-705)gaG>gaA		keratin 24							52.0	48.0	49.0					17																	38857542		2203	4300	6503	SO:0001819	synonymous_variant	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38857542C>T		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.705G>A	17.37:g.38857542C>T		False	False		Somatic	0					p.E235E	NM_019016.2	NP_061889.2	WXS	Illumina HiSeq	Phase_I	Q2M2I5	K1C24_HUMAN			3	761	-		Breast(137;0.00526)	235			Coil 1B.|Rod.		Q9NXG7	Silent	SNP	ENST00000264651.2	37	c.705G>A	CCDS11372.1																																																																																				0.512	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	0	NM_019016		17:38857542
OR5T3	390154	broad.mit.edu	37	11	56020051	56020051	+	Nonsense_Mutation	SNP	G	G	T	rs543165988		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56020051G>T	ENST00000303059.3	+	1	376	c.376G>T	c.(376-378)Gga>Tga	p.G126*		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363																																						ENST00000303059.3		NA																	0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(376-378)Gga>Tga		olfactory receptor, family 5, subfamily T, member 3							172.0	171.0	171.0					11																	56020051		2201	4295	6496	SO:0001587	stop_gained	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020051G>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.376G>T	11.37:g.56020051G>T	ENSP00000305403:p.Gly126*	False	False		Somatic	0					p.G126*	NM_001004747.1	NP_001004747.1	WXS	Illumina HiSeq	Phase_I	Q8NGG3	OR5T3_HUMAN			1	376	+	Esophageal squamous(21;0.00448)		126					Q6IFC7	Nonsense_Mutation	SNP	ENST00000303059.3	37	c.376G>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	g	7.834	0.720470	0.15372	.	.	ENSG00000172489	ENST00000303059	.	.	.	4.55	2.59	0.31030	.	0.542212	0.15279	U	0.270784	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.1733	0.48584	0.0:0.1392:0.716:0.1448	.	.	.	.	X	126	.	ENSP00000305403:G126X	G	+	1	0	OR5T3	55776627	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.613000	0.24299	0.603000	0.29913	-0.189000	0.12847	GGA		0.363	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	0	NM_001004747		11:56020051
DBT	1629	broad.mit.edu	37	1	100672084	100672084	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:100672084G>T	ENST00000370132.4	-	9	1139	c.1126C>A	c.(1126-1128)Cgc>Agc	p.R376S		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	376					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)	p.R376S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTCTGGAGGCGGTTCAGTTCA	0.423																																						ENST00000370132.4		NA																	1	Substitution - Missense(1)	p.R376S(1)	lung(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(1126-1128)Cgc>Agc		dihydrolipoamide branched chain transacylase E2							199.0	204.0	202.0					1																	100672084		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100672084G>T	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.1126C>A	1.37:g.100672084G>T	ENSP00000359151:p.Arg376Ser	True	False		Somatic	0					p.R376S	NM_001918.3	NP_001909.3	WXS	Illumina HiSeq	Phase_I	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	9	1139	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	NA					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.1126C>A	CCDS767.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603745	0.87157	.	.	ENSG00000137992	ENST00000543138;ENST00000370132	T	0.44083	0.93	5.84	5.84	0.93424	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.75020	0.88;0.985	T	0.66575	-0.5889	10	0.72032	D	0.01	-4.8811	20.1386	0.98045	0.0:0.0:1.0:0.0	.	195;376	F5H1F9;P11182	.;ODB2_HUMAN	S	195;376	ENSP00000359151:R376S	ENSP00000359151:R376S	R	-	1	0	DBT	100444672	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	9.348000	0.97062	2.767000	0.95098	0.561000	0.74099	CGC		0.423	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	0	NM_001918		1:100672084
ZNFX1	57169	broad.mit.edu	37	20	47887028	47887028	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:47887028G>T	ENST00000396105.1	-	3	1567	c.1321C>A	c.(1321-1323)Cgc>Agc	p.R441S	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R441S|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R441S	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	441							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCTGCCAGCGAACAAACTTC	0.448																																						ENST00000396105.1		NA																	0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(1321-1323)Cgc>Agc		zinc finger, NFX1-type containing 1							159.0	154.0	156.0					20																	47887028		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47887028G>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1321C>A	20.37:g.47887028G>T	ENSP00000379412:p.Arg441Ser	False	False		Somatic	0				ZNFX1_ENST00000371752.1_Missense_Mutation_p.R441S|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R441S	p.R441S	NM_021035.2	NP_066363.1	WXS	Illumina HiSeq	Phase_I	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1567	-			441					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.1321C>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160937	0.57368	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.87256	-1.97;-2.23;-2.23;-0.93;-1.64	5.85	5.85	0.93711	.	0.215288	0.48286	D	0.000200	D	0.91855	0.7422	M	0.66939	2.045	0.58432	D	0.99999	D	0.76494	0.999	D	0.65140	0.932	D	0.88693	0.3210	10	0.20519	T	0.43	-23.2852	18.7272	0.91718	0.0:0.0:1.0:0.0	.	441	Q9P2E3	ZNFX1_HUMAN	S	441;441;441;441;441;245	ENSP00000360819:R441S;ENSP00000360817:R441S;ENSP00000379412:R441S;ENSP00000360809:R441S;ENSP00000413800:R245S	ENSP00000360809:R441S	R	-	1	0	ZNFX1	47320435	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.651000	0.74372	2.773000	0.95371	0.655000	0.94253	CGC		0.448	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	0	NM_021035		20:47887028
WWC2	80014	broad.mit.edu	37	4	184190214	184190214	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:184190214C>A	ENST00000403733.3	+	15	2497	c.2298C>A	c.(2296-2298)ttC>ttA	p.F766L	WWC2_ENST00000513834.1_Missense_Mutation_p.F717L|WWC2_ENST00000448232.2_Missense_Mutation_p.F766L|WWC2_ENST00000506225.1_3'UTR|WWC2_ENST00000504005.1_Missense_Mutation_p.F448L|WWC2_ENST00000378925.3_Missense_Mutation_p.F668L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	766	C2.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CCATTTTATTCAATGATGTGT	0.448																																						ENST00000403733.3		NA																	0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(2296-2298)ttC>ttA		WW and C2 domain containing 2							170.0	170.0	170.0					4																	184190214		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184190214C>A	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2298C>A	4.37:g.184190214C>A	ENSP00000384222:p.Phe766Leu	False	False		Somatic	0				WWC2_ENST00000448232.2_Missense_Mutation_p.F766L|WWC2_ENST00000378925.3_Missense_Mutation_p.F668L|WWC2_ENST00000513834.1_Missense_Mutation_p.F717L|WWC2_ENST00000506225.1_3'UTR|WWC2_ENST00000504005.1_Missense_Mutation_p.F448L	p.F766L	NM_024949.5	NP_079225.5	WXS	Illumina HiSeq	Phase_I	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	15	2497	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	766			C2.		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.2298C>A	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170241	0.38315	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;D;T;T;T	0.97066	0.61;-4.23;0.61;0.61;0.61	5.35	2.49	0.30216	C2 calcium/lipid-binding domain, CaLB (1);	0.234157	0.37393	N	0.002115	D	0.92805	0.7712	L	0.33485	1.01	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.12837	0.002;0.008;0.004	D	0.85874	0.1418	10	0.44086	T	0.13	-12.8872	8.3414	0.32245	0.0:0.625:0.0:0.375	.	766;766;717	Q6AWC2-6;Q6AWC2;Q6AWC2-4	.;WWC2_HUMAN;.	L	766;668;717;766;448	ENSP00000384222:F766L;ENSP00000368205:F668L;ENSP00000425054:F717L;ENSP00000398577:F766L;ENSP00000427569:F448L	ENSP00000368205:F668L	F	+	3	2	WWC2	184427208	0.981000	0.34729	0.016000	0.15963	0.868000	0.49771	0.464000	0.21988	0.833000	0.34828	0.555000	0.69702	TTC		0.448	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	0	NM_024949		4:184190214
IL13RA1	3597	broad.mit.edu	37	X	117925772	117925772	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:117925772C>A	ENST00000371666.3	+	11	1306	c.1239C>A	c.(1237-1239)acC>acA	p.T413T	IL13RA1_ENST00000371637.3_Silent_p.T212T	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	413					cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGGAGGAAACCGACTCTGTAG	0.393																																						ENST00000371666.3		NA																	0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.(1237-1239)acC>acA		interleukin 13 receptor, alpha 1							195.0	169.0	178.0					X																	117925772		2203	4300	6503	SO:0001819	synonymous_variant	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117925772C>A	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.1239C>A	X.37:g.117925772C>A		False	False		Somatic	0				IL13RA1_ENST00000371637.3_Silent_p.T212T	p.T413T	NM_001560.2	NP_001551.1	WXS	Illumina HiSeq	Phase_I	P78552	I13R1_HUMAN			11	1306	+			413					O95646|Q5JSL4|Q99656|Q9UDY5	Silent	SNP	ENST00000371666.3	37	c.1239C>A	CCDS14573.1																																																																																				0.393	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	0	NM_001560		X:117925772
ACACB	32	broad.mit.edu	37	12	109610126	109610126	+	Missense_Mutation	SNP	C	C	A	rs199655635		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:109610126C>A	ENST00000338432.7	+	6	1201	c.1082C>A	c.(1081-1083)cCg>cAg	p.P361Q	ACACB_ENST00000377854.5_Missense_Mutation_p.P361Q|ACACB_ENST00000377848.3_Missense_Mutation_p.P361Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	361	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCTAAACTTCCGGAGCTGCTG	0.517																																						ENST00000338432.7		NA																	0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1081-1083)cCg>cAg		acetyl-CoA carboxylase beta	Biotin(DB00121)						231.0	247.0	242.0					12																	109610126		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109610126C>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1082C>A	12.37:g.109610126C>A	ENSP00000341044:p.Pro361Gln	False	False		Somatic	0				ACACB_ENST00000377854.5_Missense_Mutation_p.P361Q|ACACB_ENST00000377848.3_Missense_Mutation_p.P361Q	p.P361Q			WXS	Illumina HiSeq	Phase_I	O00763	ACACB_HUMAN			6	1201	+			361			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.1082C>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155578	0.94686	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.92545	-3.06;-3.06;-3.06	5.23	5.23	0.72850	ATP-grasp fold, subdomain 2 (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97700	1.0184	10	0.87932	D	0	.	18.7639	0.91864	0.0:1.0:0.0:0.0	.	361	O00763	ACACB_HUMAN	Q	361	ENSP00000341044:P361Q;ENSP00000367079:P361Q;ENSP00000367085:P361Q	ENSP00000341044:P361Q	P	+	2	0	ACACB	108094509	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.776000	0.85560	2.607000	0.88179	0.655000	0.94253	CCG		0.517	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	0	NM_001093		12:109610126
ZNF431	170959	broad.mit.edu	37	19	21366085	21366085	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:21366085C>A	ENST00000311048.7	+	5	1123	c.979C>A	c.(979-981)Cag>Aag	p.Q327K	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	327					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTTTTAACCAGTCTTCAAC	0.403																																						ENST00000311048.7		NA																	0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(979-981)Cag>Aag		zinc finger protein 431							59.0	63.0	61.0					19																	21366085		2203	4299	6502	SO:0001583	missense	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21366085C>A	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.979C>A	19.37:g.21366085C>A	ENSP00000308578:p.Gln327Lys	False	False		Somatic	0				ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	p.Q327K	NM_133473.2	NP_597730.2	WXS	Illumina HiSeq	Phase_I	Q8TF32	ZN431_HUMAN			5	1123	+			327					A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	c.979C>A	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	0.500	-0.871450	0.02570	.	.	ENSG00000196705	ENST00000311048	T	0.35421	1.31	1.0	1.0	0.19881	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20210	0.0486	N	0.16266	0.395	0.09310	N	1	B	0.22851	0.076	B	0.23574	0.047	T	0.22977	-1.0201	9	0.32370	T	0.25	.	6.2054	0.20600	0.0:0.6793:0.3206:0.0	.	327	Q8TF32	ZN431_HUMAN	K	327	ENSP00000308578:Q327K	ENSP00000308578:Q327K	Q	+	1	0	ZNF431	21157925	0.000000	0.05858	0.456000	0.27044	0.446000	0.32137	-3.026000	0.00640	0.446000	0.26666	0.449000	0.29647	CAG		0.403	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	0	XM_086098		19:21366085
PPIL4	85313	broad.mit.edu	37	6	149842225	149842225	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:149842225G>T	ENST00000253329.2	-	10	985	c.953C>A	c.(952-954)tCg>tAg	p.S318*		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	318	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		CTTTGCAACCGACTGGCTAAA	0.333																																						ENST00000253329.2		NA																	0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(952-954)tCg>tAg		peptidylprolyl isomerase (cyclophilin)-like 4							177.0	179.0	178.0					6																	149842225		2202	4299	6501	SO:0001587	stop_gained	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149842225G>T		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.953C>A	6.37:g.149842225G>T	ENSP00000253329:p.Ser318*	False	False		Somatic	0					p.S318*	NM_139126.3	NP_624311.1	WXS	Illumina HiSeq	Phase_I	Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	10	985	-		Ovarian(120;0.0164)	318			RRM.		B2RD34|Q7Z3Q5	Nonsense_Mutation	SNP	ENST00000253329.2	37	c.953C>A	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	G	36	5.846120	0.97016	.	.	ENSG00000131013	ENST00000253329	.	.	.	5.52	5.52	0.82312	.	0.049439	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.442	0.94824	0.0:0.0:1.0:0.0	.	.	.	.	X	318	.	ENSP00000253329:S318X	S	-	2	0	PPIL4	149883918	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.314000	0.96306	2.597000	0.87782	0.555000	0.69702	TCG		0.333	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1	0			6:149842225
SLC35G3	146861	broad.mit.edu	37	17	33521042	33521042	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:33521042C>A	ENST00000297307.5	-	1	370	c.285G>T	c.(283-285)ctG>ctT	p.L95L	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	95	EamA 1.					integral component of membrane (GO:0016021)											CAGGAGTTCCCAGAAGGGGGT	0.602																																						ENST00000297307.5		NA																	0					NA						c.(283-285)ctG>ctT		solute carrier family 35, member G3							134.0	141.0	138.0					17																	33521042		2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33521042C>A	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.285G>T	17.37:g.33521042C>A		True	False		Somatic	0					p.L95L	NM_152462.2	NP_689675.1	WXS	Illumina HiSeq	Phase_I	Q8N808	AMAC1_HUMAN			1	370	-			95			DUF6 1.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.285G>T	CCDS11293.1																																																																																				0.602	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	0	NM_152462		17:33521042
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398285
FANCD2	2177	broad.mit.edu	37	3	10123132	10123132	+	Missense_Mutation	SNP	C	C	A	rs201184977		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:10123132C>A	ENST00000419585.1	+	32	3369	c.3208C>A	c.(3208-3210)Cat>Aat	p.H1070N	FANCD2_ENST00000287647.3_Missense_Mutation_p.H1070N|FANCD2_ENST00000383807.1_Missense_Mutation_p.H1070N|FANCD2_ENST00000383806.1_Missense_Mutation_p.H1070N|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2OS_ENST00000524279.1_3'UTR			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1070					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAGATTTTTCATGGGCTTTT	0.423			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3		NA	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(3208-3210)Cat>Aat	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							216.0	213.0	214.0					3																	10123132		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10123132C>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3208C>A	3.37:g.10123132C>A	ENSP00000398754:p.His1070Asn	True	False		Somatic	0				FANCD2_ENST00000419585.1_Missense_Mutation_p.H1070N|FANCD2_ENST00000383807.1_Missense_Mutation_p.H1070N|FANCD2_ENST00000383806.1_Missense_Mutation_p.H1070N|FANCD2OS_ENST00000524279.1_3'UTR|FANCD2OS_ENST00000436517.1_5'UTR	p.H1070N	NM_033084.3	NP_149075.2	WXS	Illumina HiSeq	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	32	3301	+			1070					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3208C>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	6.470	0.454949	0.12283	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.75	3.04	0.35103	.	0.314743	0.37623	N	0.002011	T	0.33614	0.0869	L	0.39020	1.185	0.09310	N	0.999992	B;B	0.13145	0.007;0.007	B;B	0.14023	0.006;0.01	T	0.20107	-1.0285	10	0.14656	T	0.56	.	10.4471	0.44501	0.0:0.8063:0.0:0.1937	.	1070;1070	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	N	1070	ENSP00000287647:H1070N;ENSP00000373318:H1070N;ENSP00000373317:H1070N;ENSP00000398754:H1070N	ENSP00000287647:H1070N	H	+	1	0	FANCD2	10098132	0.679000	0.27596	0.008000	0.14137	0.983000	0.72400	2.200000	0.42724	0.386000	0.24997	-0.125000	0.14975	CAT		0.423	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1	0			3:10123132
SSTR5	6755	broad.mit.edu	37	16	1129733	1129733	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:1129733G>A	ENST00000293897.4	+	1	953	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.V289M|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	289					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CTACTTCTTCGTGGTCATCCT	0.622																																						ENST00000293897.4		NA																	0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(865-867)Gtg>Atg		somatostatin receptor 5	Octreotide(DB00104)						83.0	88.0	86.0					16																	1129733		2194	4297	6491	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129733G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.865G>A	16.37:g.1129733G>A	ENSP00000293897:p.Val289Met	False	False		Somatic	0				SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.V289M	p.V289M	NM_001053.3	NP_001044.1	WXS	Illumina HiSeq	Phase_I	P35346	SSR5_HUMAN			1	953	+		Hepatocellular(780;0.00369)	289					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.865G>A	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534704	0.45073	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.72505	-0.66;-0.66	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.381500	0.26654	N	0.023198	T	0.77974	0.4211	M	0.82323	2.585	0.42578	D	0.993203	D	0.53619	0.961	P	0.50162	0.633	T	0.81911	-0.0716	10	0.59425	D	0.04	.	12.2855	0.54789	0.0858:0.0:0.9142:0.0	.	289	P35346	SSR5_HUMAN	M	289	ENSP00000380680:V289M;ENSP00000293897:V289M	ENSP00000293897:V289M	V	+	1	0	SSTR5	1069734	1.000000	0.71417	0.922000	0.36590	0.009000	0.06853	4.534000	0.60622	2.202000	0.70862	0.561000	0.74099	GTG		0.622	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1	0			16:1129733
LAMA2	3908	broad.mit.edu	37	6	129636778	129636778	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:129636778C>A	ENST00000421865.2	+	25	3762	c.3713C>A	c.(3712-3714)cCa>cAa	p.P1238Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1238	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGAAACTTCCAGAACAATTT	0.373																																						ENST00000421865.2		NA																	0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(3712-3714)cCa>cAa		laminin, alpha 2							103.0	100.0	101.0					6																	129636778		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129636778C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3713C>A	6.37:g.129636778C>A	ENSP00000400365:p.Pro1238Gln	False	False		Somatic	0					p.P1238Q	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	WXS	Illumina HiSeq	Phase_I	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	25	3762	+			1238			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3713C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617032	0.87359	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.73258	-0.73	5.76	5.76	0.90799	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.85784	0.5777	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86719	0.1941	10	0.87932	D	0	.	20.3316	0.98722	0.0:1.0:0.0:0.0	.	1238;1238	A6NF00;P24043	.;LAMA2_HUMAN	Q	1238	ENSP00000400365:P1238Q	ENSP00000346769:P1238Q	P	+	2	0	LAMA2	129678471	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.402000	0.79972	2.871000	0.98454	0.655000	0.94253	CCA		0.373	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1	0			6:129636778
SAMHD1	25939	broad.mit.edu	37	20	35533826	35533826	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:35533826G>T	ENST00000262878.4	-	12	1550	c.1351C>A	c.(1351-1353)Cgt>Agt	p.R451S		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	451					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATAGATTACGGTATTCAATT	0.348																																						ENST00000262878.4		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(1351-1353)Cgt>Agt		SAM domain and HD domain 1							191.0	183.0	185.0					20																	35533826		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35533826G>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1351C>A	20.37:g.35533826G>T	ENSP00000262878:p.Arg451Ser	False	False		Somatic	0					p.R451S	NM_015474.3	NP_056289.2	WXS	Illumina HiSeq	Phase_I	Q9Y3Z3	SAMH1_HUMAN			12	1550	-		Myeloproliferative disorder(115;0.00878)	451					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.1351C>A	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144911	0.77888	.	.	ENSG00000101347	ENST00000262878	D	0.96830	-4.14	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	M	0.92833	3.35	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.99533	1.0961	10	0.87932	D	0	-9.9304	18.2234	0.89909	0.0:0.0:1.0:0.0	.	451	Q9Y3Z3	SAMH1_HUMAN	S	451	ENSP00000262878:R451S	ENSP00000262878:R451S	R	-	1	0	SAMHD1	34967240	1.000000	0.71417	0.300000	0.25030	0.629000	0.37895	7.652000	0.83633	2.644000	0.89710	0.462000	0.41574	CGT		0.348	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	0	NM_015474		20:35533826
KLHDC2	23588	broad.mit.edu	37	14	50241390	50241390	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:50241390C>A	ENST00000298307.5	+	3	1206	c.345C>A	c.(343-345)acC>acA	p.T115T	KLHDC2_ENST00000557247.1_Silent_p.T115T|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Silent_p.T115T	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	115						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GAGGCAATACCAATAAGGTTA	0.403																																						ENST00000298307.5		NA																	0				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(343-345)acC>acA		kelch domain containing 2							231.0	220.0	224.0					14																	50241390		2203	4300	6503	SO:0001819	synonymous_variant	23588					nucleus	protein binding	g.chr14:50241390C>A	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.345C>A	14.37:g.50241390C>A		False	False		Somatic	0				KLHDC2_ENST00000554589.1_Silent_p.T115T|KLHDC2_ENST00000557247.1_Silent_p.T115T|KLHDC2_ENST00000553538.1_3'UTR	p.T115T	NM_014315.2	NP_055130.1	WXS	Illumina HiSeq	Phase_I	Q9Y2U9	KLDC2_HUMAN			3	1206	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		115					B3KPF9|Q6IAF0|Q86TY9	Silent	SNP	ENST00000298307.5	37	c.345C>A	CCDS9693.1																																																																																				0.403	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1	0			14:50241390
HHIPL1	84439	broad.mit.edu	37	14	100123403	100123403	+	Silent	SNP	C	C	T	rs140994822	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:100123403C>T	ENST00000330710.5	+	3	1067	c.969C>T	c.(967-969)gaC>gaT	p.D323D	HHIPL1_ENST00000357223.2_Silent_p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	323					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCGGGGATGACGGGTACCTCT	0.512													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16278	0.0		0.0	False		,,,				2504	0.0					ENST00000330710.5		NA																	0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(967-969)gaC>gaT		HHIP-like 1		C	,	6,4400		0,6,2197	242.0	242.0	242.0		969,969	-6.3	0.8	14	dbSNP_134	242	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HHIPL1	NM_001127258.1,NM_032425.4	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	323/783,323/609	100123403	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100123403C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.969C>T	14.37:g.100123403C>T		True	False		Somatic	0				HHIPL1_ENST00000357223.2_Silent_p.D323D	p.D323D	NM_001127258.1	NP_001120730.1	WXS	Illumina HiSeq	Phase_I	Q96JK4	HIPL1_HUMAN			3	1067	+		Melanoma(154;0.128)	323					A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	c.969C>T	CCDS45162.1																																																																																				0.512	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	0	XM_041566		14:100123403
WSB1	26118	broad.mit.edu	37	17	25628876	25628876	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:25628876C>A	ENST00000262394.2	+	2	419	c.103C>A	c.(103-105)Cgt>Agt	p.R35S	WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000427287.2_Intron|WSB1_ENST00000581185.1_Missense_Mutation_p.R35S|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000348811.2_Intron	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	35					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GAAATGTGGTCGTGAAAATTG	0.398																																						ENST00000262394.2		NA																	0				lung(3)	3						c.(103-105)Cgt>Agt		WD repeat and SOCS box containing 1							249.0	239.0	243.0					17																	25628876		2203	4300	6503	SO:0001583	missense	26118				intracellular signal transduction	intracellular	protein binding	g.chr17:25628876C>A	AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.103C>A	17.37:g.25628876C>A	ENSP00000262394:p.Arg35Ser	False	False		Somatic	0				WSB1_ENST00000348811.2_Intron|WSB1_ENST00000427287.2_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000581185.1_Missense_Mutation_p.R35S|WSB1_ENST00000583193.1_Intron	p.R35S	NM_015626.8	NP_056441.6	WXS	Illumina HiSeq	Phase_I	Q9Y6I7	WSB1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	2	419	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		35					Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	ENST00000262394.2	37	c.103C>A	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368309	0.42003	.	.	ENSG00000109046	ENST00000262394	T	0.43294	0.95	5.95	3.89	0.44902	.	0.455607	0.22917	N	0.054078	T	0.32133	0.0819	N	0.20986	0.625	0.80722	D	1	B;B	0.19073	0.004;0.033	B;B	0.19946	0.004;0.027	T	0.04635	-1.0937	10	0.42905	T	0.14	-15.6797	15.5864	0.76485	0.0:0.7304:0.2696:0.0	.	35;35	B4DTL1;Q9Y6I7	.;WSB1_HUMAN	S	35	ENSP00000262394:R35S	ENSP00000262394:R35S	R	+	1	0	WSB1	22653003	0.986000	0.35501	1.000000	0.80357	0.984000	0.73092	1.896000	0.39789	0.792000	0.33850	0.655000	0.94253	CGT		0.398	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	0	NM_015626		17:25628876
TTK	7272	broad.mit.edu	37	6	80718204	80718204	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:80718204C>A	ENST00000369798.2	+	4	575	c.464C>A	c.(463-465)tCa>tAa	p.S155*	TTK_ENST00000230510.3_Nonsense_Mutation_p.S155*|TTK_ENST00000509894.1_Nonsense_Mutation_p.S155*	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	155					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTGAACTGTCACAAGGTAAT	0.303																																						ENST00000509894.1		NA																	0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(463-465)tCa>tAa		TTK protein kinase							60.0	53.0	55.0					6																	80718204		2203	4298	6501	SO:0001587	stop_gained	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80718204C>A		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.464C>A	6.37:g.80718204C>A	ENSP00000358813:p.Ser155*	False	False		Somatic	0				TTK_ENST00000230510.3_Nonsense_Mutation_p.S155*|TTK_ENST00000369798.2_Nonsense_Mutation_p.S155*	p.S155*			WXS	Illumina HiSeq	Phase_I	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	4	1293	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	155					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Nonsense_Mutation	SNP	ENST00000369798.2	37	c.464C>A	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	43	10.343241	0.99387	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000504040	.	.	.	6.16	6.16	0.99307	.	0.060757	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000230510:S155X	S	+	2	0	TTK	80774923	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.998000	0.63927	2.937000	0.99478	0.650000	0.86243	TCA		0.303	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2	0			6:80718204
NSD1	64324	broad.mit.edu	37	5	176562201	176562201	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:176562201G>T	ENST00000439151.2	+	2	142	c.97G>T	c.(97-99)Ggt>Tgt	p.G33C	NSD1_ENST00000354179.4_Splice_Site_p.S10S|NSD1_ENST00000361032.4_Missense_Mutation_p.G33C|NSD1_ENST00000347982.4_Splice_Site_p.S10S|NSD1_ENST00000511258.1_Splice_Site_p.S10S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	33					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)		CAGCCCTTTCGGTAATGGTCA	0.448			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2		NA		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.(97-99)Ggt>Tgt		nuclear receptor binding SET domain protein 1							134.0	123.0	127.0					5																	176562201		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.chr5:176562201G>T	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.97G>T	5.37:g.176562201G>T	ENSP00000395929:p.Gly33Cys	False	False	HNSCC(47;0.14)	Somatic	0				NSD1_ENST00000511258.1_Splice_Site_p.S10S|NSD1_ENST00000354179.4_Splice_Site_p.S10S|NSD1_ENST00000347982.4_Splice_Site_p.S10S|NSD1_ENST00000361032.4_Missense_Mutation_p.G33C	p.G33C	NM_022455.4	NP_071900.2	WXS	Illumina HiSeq	Phase_I	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)	2	142	+	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)	33					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.97G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712868	0.48517	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.98075	-4.08;-4.7	5.23	2.44	0.29823	.	0.132495	0.34802	N	0.003666	D	0.95452	0.8523	N	0.08118	0	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;P;P	0.64776	0.929;0.85;0.84	D	0.93176	0.6570	10	0.41790	T	0.15	.	9.6226	0.39730	0.0744:0.2682:0.6574:0.0	.	33;33;33	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	C	33	ENSP00000395929:G33C;ENSP00000354310:G33C	ENSP00000354310:G33C	G	+	1	0	NSD1	176494807	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.600000	0.67599	0.339000	0.23719	0.555000	0.69702	GGT		0.448	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	0	NM_172349		5:176562201
TEKT4	150483	broad.mit.edu	37	2	95541370	95541370	+	Missense_Mutation	SNP	C	C	T	rs112344899		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:95541370C>T	ENST00000295201.4	+	5	1111	c.974C>T	c.(973-975)gCg>gTg	p.A325V	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	325					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CACAACGTGGCGGCACTGAAG	0.607													.|||	1	0.000199681	0.0	0.0	5008	,	,		20016	0.001		0.0	False		,,,				2504	0.0					ENST00000295201.4		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(973-975)gCg>gTg		tektin 4							194.0	161.0	172.0					2																	95541370		2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95541370C>T	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.974C>T	2.37:g.95541370C>T	ENSP00000295201:p.Ala325Val	False	False		Somatic	0				AC097374.2_ENST00000568768.1_RNA	p.A325V	NM_144705.2	NP_653306.1	WXS	Illumina HiSeq	Phase_I	Q8WW24	TEKT4_HUMAN			5	1111	+			325						Missense_Mutation	SNP	ENST00000295201.4	37	c.974C>T	CCDS2005.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	.	2.496	-0.316380	0.05422	.	.	ENSG00000163060	ENST00000295201	T	0.02579	4.24	2.47	0.0321	0.14174	.	0.390516	0.24975	N	0.034109	T	0.01800	0.0057	N	0.26162	0.8	0.09310	N	1	B	0.30439	0.279	B	0.20577	0.03	T	0.47761	-0.9092	10	0.33940	T	0.23	-16.8492	5.7335	0.18053	0.2129:0.5766:0.2105:0.0	.	325	Q8WW24	TEKT4_HUMAN	V	325	ENSP00000295201:A325V	ENSP00000295201:A325V	A	+	2	0	TEKT4	94905097	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	-0.696000	0.05104	0.323000	0.23307	0.465000	0.42564	GCG		0.607	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	0	NM_144705		2:95541370
HHIP	64399	broad.mit.edu	37	4	145636516	145636516	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:145636516G>T	ENST00000296575.3	+	10	2267	c.1612G>T	c.(1612-1614)Ggc>Tgc	p.G538C		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	538					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ACTCTGTCTCGGCACTAGTGG	0.418																																						ENST00000296575.3		NA																	0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1612-1614)Ggc>Tgc		hedgehog interacting protein							119.0	110.0	113.0					4																	145636516		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145636516G>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1612G>T	4.37:g.145636516G>T	ENSP00000296575:p.Gly538Cys	False	False		Somatic	0					p.G538C	NM_022475.2	NP_071920.1	WXS	Illumina HiSeq	Phase_I	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	10	2267	+	all_hematologic(180;0.151)		538					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1612G>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199116	0.94997	.	.	ENSG00000164161	ENST00000296575	T	0.06933	3.24	6.06	6.06	0.98353	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.09400	-1.0676	10	0.87932	D	0	-11.7533	20.6243	0.99512	0.0:0.0:1.0:0.0	.	538	Q96QV1	HHIP_HUMAN	C	538	ENSP00000296575:G538C	ENSP00000296575:G538C	G	+	1	0	HHIP	145855966	1.000000	0.71417	0.828000	0.32881	0.968000	0.65278	9.187000	0.94912	2.879000	0.98667	0.650000	0.86243	GGC		0.418	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2	0			4:145636516
CLEC18B	497190	broad.mit.edu	37	16	74443519	74443519	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:74443519A>T	ENST00000339953.5	-	12	1380	c.1259T>A	c.(1258-1260)cTg>cAg	p.L420Q		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	420	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGAAGCCTGCAGCTCCACGCA	0.597																																						ENST00000339953.5		NA																	0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1258-1260)cTg>cAg		C-type lectin domain family 18, member B							126.0	112.0	117.0					16																	74443519		2196	4297	6493	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74443519A>T	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1259T>A	16.37:g.74443519A>T	ENSP00000341051:p.Leu420Gln	False	False		Somatic	0					p.L420Q	NM_001011880.2	NP_001011880.2	WXS	Illumina HiSeq	Phase_I	Q6UXF7	CL18B_HUMAN			12	1380	-			420			C-type lectin.		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.1259T>A	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	a	16.96	3.265272	0.59431	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.60040	0.22	3.64	3.64	0.41730	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.101710	0.40908	D	0.000981	T	0.70133	0.3189	M	0.76727	2.345	0.29629	N	0.845598	D;D	0.64830	0.994;0.994	D;D	0.65323	0.934;0.913	T	0.67511	-0.5652	10	0.87932	D	0	.	8.5986	0.33732	1.0:0.0:0.0:0.0	.	411;420	C9JSV1;Q6UXF7	.;CL18B_HUMAN	Q	411;420	ENSP00000341051:L420Q	ENSP00000341051:L420Q	L	-	2	0	CLEC18B	73001020	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.380000	0.79704	1.519000	0.48950	0.352000	0.21897	CTG		0.597	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	0	NM_001011880		16:74443519
MORC2	22880	broad.mit.edu	37	22	31328956	31328956	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:31328956G>A	ENST00000397641.3	-	22	2850	c.2442C>T	c.(2440-2442)gcC>gcT	p.A814A	MORC2_ENST00000215862.4_Silent_p.A752A|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	814						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCACCTCCACGGCTGTGACAC	0.572																																						ENST00000397641.3		NA																	0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(2440-2442)gcC>gcT		MORC family CW-type zinc finger 2							285.0	256.0	266.0					22																	31328956		2203	4300	6503	SO:0001819	synonymous_variant	22880						ATP binding|zinc ion binding	g.chr22:31328956G>A	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2442C>T	22.37:g.31328956G>A		False	False		Somatic	0				MORC2_ENST00000215862.4_Silent_p.A752A	p.A814A			WXS	Illumina HiSeq	Phase_I	Q9Y6X9	MORC2_HUMAN			22	2850	-			NA					B2RNB1|Q9UF28|Q9Y6V2	Silent	SNP	ENST00000397641.3	37	c.2442C>T																																																																																					0.572	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	0	NM_014941		22:31328956
KIAA0430	9665	broad.mit.edu	37	16	15719310	15719310	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:15719310G>T	ENST00000396368.3	-	8	2078	c.1872C>A	c.(1870-1872)tcC>tcA	p.S624S	KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000551742.1_Silent_p.S623S|KIAA0430_ENST00000548025.1_Silent_p.S621S|KIAA0430_ENST00000602337.1_Silent_p.S621S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	624					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTTTGGCACTGGAAGATTGTT	0.368																																						ENST00000396368.3		NA																	0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(1870-1872)tcC>tcA		KIAA0430							123.0	118.0	120.0					16																	15719310		1835	4094	5929	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15719310G>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1872C>A	16.37:g.15719310G>T		False	False		Somatic	0				KIAA0430_ENST00000551742.1_Silent_p.S623S|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000548025.1_Silent_p.S621S|KIAA0430_ENST00000602337.1_Silent_p.S621S|KIAA0430_ENST00000344181.3_Intron	p.S624S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	WXS	Illumina HiSeq	Phase_I	Q9Y4F3	LKAP_HUMAN			8	2078	-			623					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.1872C>A	CCDS10562.2																																																																																				0.368	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	0	NM_014647		16:15719310
DCAF6	55827	broad.mit.edu	37	1	167921055	167921055	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:167921055C>A	ENST00000312263.6	+	2	319	c.115C>A	c.(115-117)Caa>Aaa	p.Q39K	DCAF6_ENST00000367840.3_Missense_Mutation_p.Q39K|DCAF6_ENST00000367843.3_Missense_Mutation_p.Q39K|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000432587.2_Missense_Mutation_p.Q39K	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	39					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGAATTTATCCAAAGATTAAA	0.303																																						ENST00000367840.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(115-117)Caa>Aaa		DDB1 and CUL4 associated factor 6							48.0	52.0	51.0					1																	167921055		2201	4294	6495	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167921055C>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.115C>A	1.37:g.167921055C>A	ENSP00000311949:p.Gln39Lys	True	False		Somatic	0				DCAF6_ENST00000432587.2_Missense_Mutation_p.Q39K|DCAF6_ENST00000312263.6_Missense_Mutation_p.Q39K|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Missense_Mutation_p.Q39K	p.Q39K	NM_001198956.1	NP_001185885.1	WXS	Illumina HiSeq	Phase_I	Q58WW2	DCAF6_HUMAN			2	209	+			39					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.115C>A	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234090	0.79688	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.80738	-1.41;0.0;-1.41;-1.41	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.120335	0.56097	D	0.000022	T	0.80618	0.4657	L	0.27053	0.805	0.80722	D	1.000000	P;D;D;D	0.67145	0.924;0.982;0.987;0.996	P;D;P;D	0.72982	0.9;0.968;0.831;0.979	T	0.81667	-0.0829	9	0.45353	T	0.12	.	17.9178	0.88957	0.0:1.0:0.0:0.0	.	39;39;39;39	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	K	39	ENSP00000356817:Q39K;ENSP00000396238:Q39K;ENSP00000311949:Q39K;ENSP00000356814:Q39K	ENSP00000311949:Q39K	Q	+	1	0	DCAF6	166187679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.801000	0.69115	2.524000	0.85096	0.557000	0.71058	CAA		0.303	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	0	NM_018442		1:167921055
POLQ	10721	broad.mit.edu	37	3	121192257	121192257	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:121192257G>T	ENST00000264233.5	-	21	6611	c.6483C>A	c.(6481-6483)acC>acA	p.T2161T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2161					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCCTCTTCTGGTAGAACCCA	0.443								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5		NA																	0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(6481-6483)acC>acA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							221.0	212.0	215.0					3																	121192257		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121192257G>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6483C>A	3.37:g.121192257G>T		False	False		Somatic	0					p.T2161T	NM_199420.3	NP_955452.3	WXS	Illumina HiSeq	Phase_I	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	21	6611	-			2161					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.6483C>A	CCDS33833.1																																																																																				0.443	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	0	NM_199420		3:121192257
HECTD4	283450	broad.mit.edu	37	12	112708208	112708208	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:112708208C>A	ENST00000430131.2	-	11	1847	c.702G>T	c.(700-702)gcG>gcT	p.A234A	HECTD4_ENST00000550722.1_Silent_p.A522A|HECTD4_ENST00000377560.5_Silent_p.A484A			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	234					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTATGCACATCGCACCAACGT	0.433																																						ENST00000550722.1		NA																	0					NA						c.(1564-1566)gcG>gcT		HECT domain containing E3 ubiquitin protein ligase 4							302.0	301.0	301.0					12																	112708208		2203	4300	6503	SO:0001819	synonymous_variant	283450							g.chr12:112708208C>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.702G>T	12.37:g.112708208C>A		False	False		Somatic	0				HECTD4_ENST00000430131.2_Silent_p.A234A|HECTD4_ENST00000377560.5_Silent_p.A484A	p.A522A	NM_001109662.3	NP_001103132.3	WXS	Illumina HiSeq	Phase_I					12	1961	-			NA					L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.1566G>T																																																																																					0.433	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		0	NM_173813		12:112708208
ASPM	259266	broad.mit.edu	37	1	197086945	197086945	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:197086945G>T	ENST00000367409.4	-	17	4295	c.4039C>A	c.(4039-4041)Caa>Aaa	p.Q1347K	ASPM_ENST00000294732.7_Missense_Mutation_p.Q1347K|ASPM_ENST00000367408.1_Missense_Mutation_p.Q597K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1347	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTTTATTTTGAACTTTTTCC	0.289																																						ENST00000367409.4		NA																	0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(4039-4041)Caa>Aaa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							114.0	123.0	120.0					1																	197086945		2202	4298	6500	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197086945G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4039C>A	1.37:g.197086945G>T	ENSP00000356379:p.Gln1347Lys	True	False		Somatic	0				ASPM_ENST00000294732.7_Missense_Mutation_p.Q1347K|ASPM_ENST00000367408.1_Missense_Mutation_p.Q597K	p.Q1347K	NM_018136.4	NP_060606.3	WXS	Illumina HiSeq	Phase_I	Q8IZT6	ASPM_HUMAN			17	4295	-			1347			IQ 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.4039C>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569453	0.13560	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.70282	0.3;-0.47;-0.47	5.72	4.79	0.61399	.	0.624908	0.15769	N	0.245535	T	0.67382	0.2887	M	0.76574	2.34	0.09310	N	1	B;B	0.27765	0.001;0.188	B;B	0.22880	0.003;0.042	T	0.55425	-0.8143	10	0.15952	T	0.53	.	12.3172	0.54964	0.0:0.0:0.6346:0.3654	.	1347;1347	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	K	1347;1347;597	ENSP00000356379:Q1347K;ENSP00000294732:Q1347K;ENSP00000356378:Q597K	ENSP00000294732:Q1347K	Q	-	1	0	ASPM	195353568	0.978000	0.34361	0.019000	0.16419	0.325000	0.28411	2.287000	0.43505	1.384000	0.46424	0.557000	0.71058	CAA		0.289	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	NM_018136		1:197086945
DNAJB9	4189	broad.mit.edu	37	7	108212278	108212278	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:108212278G>T	ENST00000249356.3	+	2	654	c.108G>T	c.(106-108)tcG>tcT	p.S36S	THAP5_ENST00000415914.3_5'Flank|THAP5_ENST00000438865.1_5'Flank|DNAJB9_ENST00000465725.1_3'UTR|THAP5_ENST00000493722.1_5'Flank|THAP5_ENST00000313516.5_5'Flank	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	36	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TGCCAAAATCGGCATCAGAGC	0.413																																						ENST00000249356.3		NA																	0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(106-108)tcG>tcT		DnaJ (Hsp40) homolog, subfamily B, member 9							104.0	113.0	110.0					7																	108212278		2203	4300	6503	SO:0001819	synonymous_variant	4189				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	g.chr7:108212278G>T	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.108G>T	7.37:g.108212278G>T		False	False		Somatic	0				DNAJB9_ENST00000465725.1_3'UTR	p.S36S	NM_012328.2	NP_036460.1	WXS	Illumina HiSeq	Phase_I	Q9UBS3	DNJB9_HUMAN			2	654	+			36			J.			Silent	SNP	ENST00000249356.3	37	c.108G>T	CCDS5752.1																																																																																				0.413	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1	0			7:108212278
ANKEF1	63926	broad.mit.edu	37	20	10025144	10025144	+	Missense_Mutation	SNP	G	G	T	rs139520957		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:10025144G>T	ENST00000378380.3	+	4	978	c.649G>T	c.(649-651)Gac>Tac	p.D217Y	ANKEF1_ENST00000378392.1_Missense_Mutation_p.D217Y|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	217							calcium ion binding (GO:0005509)										ATTTGACAACGACAGGCATCA	0.413																																						ENST00000378380.3		NA																	0					NA						c.(649-651)Gac>Tac		ankyrin repeat and EF-hand domain containing 1							228.0	205.0	213.0					20																	10025144		2203	4300	6503	SO:0001583	missense	63926							g.chr20:10025144G>T	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.649G>T	20.37:g.10025144G>T	ENSP00000367631:p.Asp217Tyr	False	False		Somatic	0				SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.D217Y|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	p.D217Y	NM_198798.1	NP_942093.1	WXS	Illumina HiSeq	Phase_I					4	978	+			NA					B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.649G>T	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349970	0.41599	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.67698	-0.28;-0.28	5.34	4.39	0.52855	Ankyrin repeat-containing domain (3);	0.544786	0.22457	N	0.059809	T	0.66167	0.2762	L	0.39692	1.235	0.29151	N	0.878367	P	0.49253	0.921	P	0.49887	0.625	T	0.64445	-0.6406	10	0.48119	T	0.1	-1.6673	14.3094	0.66405	0.0717:0.0:0.9283:0.0	.	217	Q9NU02	ANKR5_HUMAN	Y	217	ENSP00000367644:D217Y;ENSP00000367631:D217Y	ENSP00000367631:D217Y	D	+	1	0	ANKRD5	9973144	0.999000	0.42202	0.089000	0.20774	0.105000	0.19272	4.505000	0.60421	1.395000	0.46643	0.655000	0.94253	GAC		0.413	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	0	NM_022096		20:10025144
SLC25A12	8604	broad.mit.edu	37	2	172712428	172712428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:172712428C>A	ENST00000422440.2	-	4	278	c.241G>T	c.(241-243)Gaa>Taa	p.E81*	RNU6-182P_ENST00000516970.1_RNA|SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Intron	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	81					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AAAACAGATTCAAATGCCAAA	0.388																																						ENST00000422440.2		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(241-243)Gaa>Taa		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						148.0	150.0	149.0					2																	172712428		2203	4300	6503	SO:0001587	stop_gained	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172712428C>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.241G>T	2.37:g.172712428C>A	ENSP00000388658:p.Glu81*	True	False		Somatic	0				SLC25A12_ENST00000392592.4_Intron|SLC25A12_ENST00000472748.1_5'UTR	p.E81*	NM_003705.4	NP_003696.2	WXS	Illumina HiSeq	Phase_I	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		4	278	-			81					B3KR64|Q96AM8	Nonsense_Mutation	SNP	ENST00000422440.2	37	c.241G>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791463	0.90367	.	.	ENSG00000115840	ENST00000422440	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.6969	19.6978	0.96034	0.0:1.0:0.0:0.0	.	.	.	.	X	81	.	ENSP00000388658:E81X	E	-	1	0	SLC25A12	172420674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.649000	0.89929	0.650000	0.86243	GAA		0.388	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	0	NM_003705		2:172712428
RBM25	58517	broad.mit.edu	37	14	73578904	73578904	+	Silent	SNP	C	C	A	rs374029666		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:73578904C>A	ENST00000261973.7	+	17	2622	c.2337C>A	c.(2335-2337)atC>atA	p.I779I	RBM25_ENST00000527432.1_Silent_p.I779I|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	779	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ATAAGAAAATCATAGAATATA	0.303																																						ENST00000261973.7		NA																	0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(2335-2337)atC>atA		RNA binding motif protein 25							133.0	145.0	141.0					14																	73578904		2203	4297	6500	SO:0001819	synonymous_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73578904C>A	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2337C>A	14.37:g.73578904C>A		False	False		Somatic	0				RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Silent_p.I779I	p.I779I	NM_021239.2	NP_067062.1	WXS	Illumina HiSeq	Phase_I	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	17	2622	+			779			PWI.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	c.2337C>A	CCDS32113.1																																																																																				0.303	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	0	XM_027330		14:73578904
TTC3	7267	broad.mit.edu	37	21	38501361	38501361	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:38501361C>A	ENST00000399017.2	+	16	4103	c.1356C>A	c.(1354-1356)ttC>ttA	p.F452L	TTC3_ENST00000354749.2_Missense_Mutation_p.F452L|TTC3_ENST00000355666.1_Missense_Mutation_p.F452L|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.F142L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	452					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGAAAAGTTCAGGTATGTTT	0.299																																					Ovarian(38;194 1649 35661)	ENST00000399017.2		NA																	0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(1354-1356)ttC>ttA		tetratricopeptide repeat domain 3							80.0	86.0	84.0					21																	38501361		2203	4296	6499	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38501361C>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1356C>A	21.37:g.38501361C>A	ENSP00000381981:p.Phe452Leu	False	False		Somatic	0				TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.F142L|TTC3_ENST00000355666.1_Missense_Mutation_p.F452L|TTC3_ENST00000354749.2_Missense_Mutation_p.F452L	p.F452L	NM_003316.3	NP_003307.3	WXS	Illumina HiSeq	Phase_I	P53804	TTC3_HUMAN			16	4103	+		Myeloproliferative disorder(46;0.0412)	452					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.1356C>A	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	5.465	0.270881	0.10349	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.38722	1.52;1.52;1.52;3.27;1.12;3.27;3.27	5.33	0.0492	0.14288	.	1.304020	0.05165	N	0.498569	T	0.18882	0.0453	N	0.08118	0	0.09310	N	0.999995	B;B	0.14012	0.0;0.009	B;B	0.09377	0.0;0.004	T	0.18398	-1.0338	10	0.11485	T	0.65	10.7736	2.9223	0.05773	0.2841:0.3761:0.2536:0.0862	.	142;452	B4DSZ9;P53804	.;TTC3_HUMAN	L	452;452;434;452;142;452;452	ENSP00000403943:F452L;ENSP00000408456:F452L;ENSP00000391891:F434L;ENSP00000347889:F452L;ENSP00000442875:F142L;ENSP00000381981:F452L;ENSP00000346791:F452L	ENSP00000346791:F452L	F	+	3	2	TTC3	37423231	0.076000	0.21285	0.369000	0.25952	0.767000	0.43475	-0.036000	0.12185	0.323000	0.23307	0.655000	0.94253	TTC		0.299	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1	0			21:38501361
CEP70	80321	broad.mit.edu	37	3	138224205	138224205	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:138224205G>T	ENST00000264982.3	-	13	1419	c.1153C>A	c.(1153-1155)Caa>Aaa	p.Q385K	CEP70_ENST00000542237.1_Missense_Mutation_p.Q365K|CEP70_ENST00000489254.1_Missense_Mutation_p.Q233K|CEP70_ENST00000484888.1_Missense_Mutation_p.Q385K|CEP70_ENST00000481834.1_Missense_Mutation_p.Q385K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	385				Q -> R (in Ref. 2; BAH13584). {ECO:0000305}.	G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CCACAATCTTGAACAAGATCT	0.358																																						ENST00000264982.3		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						c.(1153-1155)Caa>Aaa		centrosomal protein 70kDa							122.0	125.0	124.0					3																	138224205		2203	4299	6502	SO:0001583	missense	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138224205G>T	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1153C>A	3.37:g.138224205G>T	ENSP00000264982:p.Gln385Lys	False	False		Somatic	0				CEP70_ENST00000484888.1_Missense_Mutation_p.Q385K|CEP70_ENST00000489254.1_Missense_Mutation_p.Q233K|CEP70_ENST00000542237.1_Missense_Mutation_p.Q365K|CEP70_ENST00000481834.1_Missense_Mutation_p.Q385K	p.Q385K	NM_024491.2	NP_077817.2	WXS	Illumina HiSeq	Phase_I	Q8NHQ1	CEP70_HUMAN			13	1419	-			385					B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	c.1153C>A	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729538	0.30684	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834	T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77	5.14	4.27	0.50696	.	0.301827	0.28815	N	0.014047	T	0.22898	0.0553	L	0.57536	1.79	0.09310	N	1	B;B;P;B	0.35575	0.073;0.143;0.51;0.143	B;B;B;B	0.31290	0.022;0.056;0.127;0.056	T	0.15178	-1.0446	10	0.39692	T	0.17	-0.9407	9.7105	0.40243	0.0938:0.0:0.9062:0.0	.	233;365;385;385	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	K	385;365;233;385;367;385	ENSP00000264982:Q385K;ENSP00000444128:Q365K;ENSP00000417821:Q233K;ENSP00000419231:Q385K;ENSP00000419833:Q367K;ENSP00000417465:Q385K	ENSP00000264982:Q385K	Q	-	1	0	CEP70	139706895	0.999000	0.42202	0.034000	0.17996	0.002000	0.02628	5.655000	0.67981	1.546000	0.49388	-0.136000	0.14681	CAA		0.358	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	0	NM_024491		3:138224205
MFN1	55669	broad.mit.edu	37	3	179083014	179083014	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:179083014G>A	ENST00000471841.1	+	7	879		c.e7+1		MFN1_ENST00000263969.5_Splice_Site|MFN1_ENST00000280653.7_Splice_Site	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1						mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TATGGAAGACGTAAGTTGTTA	0.318																																						ENST00000471841.1		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.e7+1		mitofusin 1							38.0	40.0	40.0					3																	179083014		2201	4300	6501	SO:0001630	splice_region_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179083014G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.753+1G>A	3.37:g.179083014G>A		False	False		Somatic	0				MFN1_ENST00000263969.5_Splice_Site|MFN1_ENST00000280653.7_Splice_Site		NM_033540.2	NP_284941	WXS	Illumina HiSeq	Phase_I	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		7	879	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		NA					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Splice_Site	SNP	ENST00000471841.1	37		CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372164	0.82573	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7394	0.96219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFN1	180565708	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.414000	0.97362	2.649000	0.89929	0.563000	0.77884	.		0.318	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	0	NM_017927	Intron	3:179083014
BLM	641	broad.mit.edu	37	15	91306341	91306341	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:91306341C>A	ENST00000355112.3	+	8	2146	c.2028C>A	c.(2026-2028)atC>atA	p.I676I	BLM_ENST00000560509.1_Silent_p.I676I|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	676	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|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)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TAGAGGCGATCAATGCTGCAC	0.363			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3		NA	yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2026-2028)atC>atA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							118.0	123.0	121.0					15																	91306341		2198	4298	6496	SO:0001819	synonymous_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91306341C>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2028C>A	15.37:g.91306341C>A		False	False		Somatic	0				BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Silent_p.I676I	p.I676I	NM_000057.2	NP_000048.1	WXS	Illumina HiSeq	Phase_I	P54132	BLM_HUMAN	Lung(145;0.189)		8	2146	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		676			Helicase ATP-binding.		Q52M96	Silent	SNP	ENST00000355112.3	37	c.2028C>A	CCDS10363.1																																																																																				0.363	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1	0			15:91306341
OCM2	4951	broad.mit.edu	37	7	97617777	97617777	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:97617777G>T	ENST00000257627.4	-	2	236	c.145C>A	c.(145-147)Cgg>Agg	p.R49R	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	49	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						TCTATGAACCGGAAAACATCC	0.507																																						ENST00000257627.4		NA																	0				lung(4)	4						c.(145-147)Cgg>Agg		oncomodulin 2							173.0	149.0	157.0					7																	97617777		2203	4300	6503	SO:0001819	synonymous_variant	4951						calcium ion binding	g.chr7:97617777G>T	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"""EF-hand domain containing"""	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.145C>A	7.37:g.97617777G>T		False	False		Somatic	0				OCM2_ENST00000473987.2_5'UTR	p.R49R	NM_006188.3	NP_006179.2	WXS	Illumina HiSeq	Phase_I	P0CE71	OCM2_HUMAN			2	236	-			49			EF-hand 1.		P32930|Q6ISI5|Q75MW0	Silent	SNP	ENST00000257627.4	37	c.145C>A	CCDS5653.1																																																																																				0.507	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	0	NM_006188		7:97617777
EMR1	2015	broad.mit.edu	37	19	6913826	6913826	+	Silent	SNP	C	C	A	rs376031317		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:6913826C>A	ENST00000312053.4	+	11	1322	c.1285C>A	c.(1285-1287)Cgg>Agg	p.R429R	EMR1_ENST00000450315.3_Silent_p.R252R|EMR1_ENST00000381407.5_Silent_p.R288R|EMR1_ENST00000381404.4_Silent_p.R377R|EMR1_ENST00000250572.8_Silent_p.R429R	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	429	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCGGCTGTTCGGACGGAATA	0.498																																						ENST00000312053.4		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(1285-1287)Cgg>Agg		egf-like module containing, mucin-like, hormone receptor-like 1		C		2,4404	4.2+/-10.8	0,2,2201	139.0	127.0	131.0		1285	2.5	0.0	19		131	0,8600		0,0,4300	no	coding-synonymous	EMR1	NM_001974.3		0,2,6501	AA,AC,CC		0.0,0.0454,0.0154		429/887	6913826	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6913826C>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1285C>A	19.37:g.6913826C>A		True	False		Somatic	0				EMR1_ENST00000250572.8_Silent_p.R429R|EMR1_ENST00000381404.4_Silent_p.R377R|EMR1_ENST00000381407.5_Silent_p.R288R|EMR1_ENST00000450315.3_Silent_p.R252R	p.R429R	NM_001974.4	NP_001965.3	WXS	Illumina HiSeq	Phase_I	Q14246	EMR1_HUMAN			11	1322	+	all_hematologic(4;0.166)		429			Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.1285C>A	CCDS12175.1																																																																																				0.498	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1	0			19:6913826
ZNF502	91392	broad.mit.edu	37	3	44763222	44763222	+	Silent	SNP	C	C	A	rs561539227		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:44763222C>A	ENST00000296091.4	+	4	1169	c.913C>A	c.(913-915)Cga>Aga	p.R305R	ZNF502_ENST00000436624.2_Silent_p.R305R|ZNF502_ENST00000449836.1_Silent_p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					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(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTCTTCTTTTCGAAAACACTC	0.408																																						ENST00000296091.4		NA																	0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(913-915)Cga>Aga		zinc finger protein 502							164.0	170.0	168.0					3																	44763222		2203	4300	6503	SO:0001819	synonymous_variant	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763222C>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.913C>A	3.37:g.44763222C>A		True	False		Somatic	0				ZNF502_ENST00000436624.2_Silent_p.R305R|ZNF502_ENST00000449836.1_Silent_p.R305R	p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	WXS	Illumina HiSeq	Phase_I	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1169	+			305						Silent	SNP	ENST00000296091.4	37	c.913C>A	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	4.294	0.053853	0.08291	.	.	ENSG00000196653	ENST00000427783	.	.	.	4.27	-0.248	0.13015	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.40478	-0.9561	5	0.87932	D	0	-0.978	6.8198	0.23851	0.4135:0.3026:0.2839:0.0	.	.	.	.	L	304	.	ENSP00000397812:F304L	F	+	3	2	ZNF502	44738226	0.547000	0.26465	0.305000	0.25099	0.935000	0.57460	2.045000	0.41250	0.132000	0.18615	0.655000	0.94253	TTC		0.408	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	0	NM_033210		3:44763222
SEC11A	23478	broad.mit.edu	37	15	85224008	85224008	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85224008G>T	ENST00000268220.7	-	4	1007	c.367C>A	c.(367-369)Cga>Aga	p.R123R	SEC11A_ENST00000560266.1_Silent_p.R123R|SEC11A_ENST00000558134.1_Silent_p.R123R|SEC11A_ENST00000455959.3_Silent_p.R97R	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	123					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			TAGAGGCCTCGGTCATCAACC	0.408																																						ENST00000268220.7		NA																	0				ovary(1)	1						c.(367-369)Cga>Aga		SEC11 homolog A (S. cerevisiae)							216.0	197.0	203.0					15																	85224008		1860	4094	5954	SO:0001819	synonymous_variant	23478				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity	g.chr15:85224008G>T	AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"""SEC11-like 1 (S. cerevisiae)"""	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.367C>A	15.37:g.85224008G>T		False	False		Somatic	0				SEC11A_ENST00000455959.3_Silent_p.R97R|SEC11A_ENST00000558134.1_Silent_p.R123R|SEC11A_ENST00000560266.1_Silent_p.R123R	p.R123R	NM_014300.2	NP_055115.1	WXS	Illumina HiSeq	Phase_I	P67812	SC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.199)		4	1007	-			123					B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Silent	SNP	ENST00000268220.7	37	c.367C>A	CCDS45340.1																																																																																				0.408	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1	0	NM_014300		15:85224008
BPIFB4	149954	broad.mit.edu	37	20	31671235	31671235	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:31671235G>T	ENST00000375483.3	+	3	232	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	78						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										ATATACCAACGGCAAAAAACT	0.478																																						ENST00000375483.3		NA																	0					NA						c.(232-234)Ggc>Tgc		BPI fold containing family B, member 4							89.0	84.0	86.0					20																	31671235		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671235G>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.232G>T	20.37:g.31671235G>T	ENSP00000364632:p.Gly78Cys	False	False		Somatic	0					p.G78C	NM_182519.2	NP_872325.2	WXS	Illumina HiSeq	Phase_I	P59827	LPLC4_HUMAN			3	232	+			78					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.232G>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	g	10.59	1.391826	0.25118	.	.	ENSG00000186191	ENST00000375483	T	0.02085	4.46	3.02	3.02	0.34903	.	0.000000	0.37577	U	0.002038	T	0.06005	0.0156	L	0.32530	0.975	0.30669	N	0.753545	D	0.89917	1.0	D	0.87578	0.998	T	0.02238	-1.1190	10	0.87932	D	0	-11.4942	9.6335	0.39793	0.0:0.0:1.0:0.0	.	78	P59827	BPIB4_HUMAN	C	78	ENSP00000364632:G78C	ENSP00000364632:G78C	G	+	1	0	BPIFB4	31134896	0.996000	0.38824	0.922000	0.36590	0.015000	0.08874	2.891000	0.48617	1.675000	0.50919	0.457000	0.33378	GGC		0.478	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	0	NM_182519		20:31671235
SEC62	7095	broad.mit.edu	37	3	169700520	169700520	+	Silent	SNP	C	C	A	rs180699945		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:169700520C>A	ENST00000337002.4	+	4	335	c.277C>A	c.(277-279)Cga>Aga	p.R93R	SEC62_ENST00000480708.1_Silent_p.R93R|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	93					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GTTTTTTCACCGAGCCCTAAA	0.323																																						ENST00000337002.4		NA																	0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(277-279)Cga>Aga		SEC62 homolog (S. cerevisiae)							68.0	80.0	76.0					3																	169700520		2186	4297	6483	SO:0001819	synonymous_variant	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169700520C>A	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.277C>A	3.37:g.169700520C>A		False	False		Somatic	0				SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Silent_p.R93R	p.R93R	NM_003262.3	NP_003253.1	WXS	Illumina HiSeq	Phase_I	Q99442	SEC62_HUMAN			4	335	+			93					D3DNQ0|O00682|O00729	Silent	SNP	ENST00000337002.4	37	c.277C>A	CCDS3210.1																																																																																				0.323	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1	0			3:169700520
USP34	9736	broad.mit.edu	37	2	61412663	61412663	+	IGR	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:61412663G>T	ENST00000398571.2	-	0	11357				AHSA2_ENST00000394457.3_Silent_p.L34L|AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000357022.2_Silent_p.L34L|AHSA2_ENST00000410073.1_Silent_p.L34L	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAGTGGCACTGGGTGTAAGGA	0.458																																						ENST00000394457.3		NA																	0				breast(1)|lung(3)|prostate(1)	5						c.(100-102)ctG>ctT		AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)							161.0	147.0	152.0					2																	61412663		2203	4300	6503	SO:0001628	intergenic_variant	130872				response to stress	cytoplasm	ATPase activator activity|chaperone binding	g.chr2:61412663G>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265		2.37:g.61412663G>T		True	False		Somatic	0				AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000357022.2_Silent_p.L34L|AHSA2_ENST00000410073.1_Silent_p.L34L	p.L34L			WXS	Illumina HiSeq	Phase_I	Q719I0	AHSA2_HUMAN	Epithelial(17;0.0994)		4	1845	+			NA					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.102G>T	CCDS42686.1																																																																																				0.458	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4	0			2:61412663
USP9X	8239	broad.mit.edu	37	X	41045841	41045841	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:41045841C>A	ENST00000324545.8	+	24	4263	c.3630C>A	c.(3628-3630)tcC>tcA	p.S1210S	USP9X_ENST00000378308.2_Silent_p.S1210S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1210					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|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 protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.S1203S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATCCATCATCCGAGTGCATGC	0.403																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.8		NA																	1	Substitution - coding silent(1)	p.S1203S(1)	large_intestine(1)	NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3628-3630)tcC>tcA		ubiquitin specific peptidase 9, X-linked							205.0	183.0	190.0					X																	41045841		2203	4300	6503	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41045841C>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3630C>A	X.37:g.41045841C>A		False	False		Somatic	0				USP9X_ENST00000378308.2_Silent_p.S1210S	p.S1210S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	WXS	Illumina HiSeq	Phase_I	Q93008	USP9X_HUMAN			24	4263	+			NA					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.3630C>A	CCDS43930.1																																																																																				0.403	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	0	NM_004652		X:41045841
GALNTL5	168391	broad.mit.edu	37	7	151716785	151716785	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:151716785C>A	ENST00000392800.2	+	9	1485	c.1231C>A	c.(1231-1233)Cgc>Agc	p.R411S	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R411S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	411					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R411C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CGGAAATATTCGCGAGCGTGT	0.423																																						ENST00000392800.2		NA																	1	Substitution - Missense(1)	p.R411C(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(1231-1233)Cgc>Agc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							111.0	107.0	108.0					7																	151716785		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151716785C>A	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1231C>A	7.37:g.151716785C>A	ENSP00000376548:p.Arg411Ser	False	False		Somatic	0				GALNTL5_ENST00000431418.2_Missense_Mutation_p.R411S	p.R411S	NM_145292.3	NP_660335.2	WXS	Illumina HiSeq	Phase_I	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	9	1485	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	411					Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.1231C>A	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.373640	0.00207	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.12774	2.65;2.65	4.91	3.75	0.43078	.	0.461817	0.20658	N	0.088078	T	0.01730	0.0055	N	0.00029	-2.615	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39800	-0.9596	10	0.02654	T	1	.	8.7063	0.34356	0.8032:0.1968:0.0:0.0	.	162;411	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	S	411	ENSP00000392582:R411S;ENSP00000376548:R411S	ENSP00000376548:R411S	R	+	1	0	GALNTL5	151347718	0.259000	0.24043	0.003000	0.11579	0.001000	0.01503	1.930000	0.40124	0.880000	0.35969	-0.275000	0.10095	CGC		0.423	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	0	NM_145292		7:151716785
GTF2H2C	728340	broad.mit.edu	37	5	68875685	68875685	+	Missense_Mutation	SNP	C	C	A	rs551310033		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:68875685C>A	ENST00000510979.1	+	11	946	c.751C>A	c.(751-753)Cgt>Agt	p.R251S	GTF2H2C_ENST00000514162.1_Intron|GTF2H2C_ENST00000380729.3_Missense_Mutation_p.R251S|GTF2H2C_ENST00000508344.2_Missense_Mutation_p.R194S	NM_001098728.1	NP_001092198.1	Q6P1K8	T2H2L_HUMAN	GTF2H2 family member C	251					nucleotide-excision repair (GO:0006289)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	core TFIIH complex (GO:0000439)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)	2						CTCACTTATTCGTATGGGTAA	0.308																																						ENST00000510979.1		NA																	0				large_intestine(1)|lung(1)	2						c.(751-753)Cgt>Agt		general transcription factor IIH, polypeptide 2C							180.0	196.0	191.0					5																	68875685		2197	4295	6492	SO:0001583	missense	728340				DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr5:68875685C>A		CCDS43325.1	5q13.2	2014-03-28	2014-03-28		ENSG00000183474	ENSG00000183474			31394	protein-coding gene	gene with protein product			"""general transcription factor IIH, polypeptide 2C"""				Standard	NM_001098728		Approved		uc003jwz.4	Q6P1K8	OTTHUMG00000162365	ENST00000510979.1:c.751C>A	5.37:g.68875685C>A	ENSP00000422907:p.Arg251Ser	False	False		Somatic	0				GTF2H2C_ENST00000508344.2_Missense_Mutation_p.R194S|GTF2H2C_ENST00000380729.3_Missense_Mutation_p.R251S|GTF2H2C_ENST00000514162.1_Intron	p.R251S	NM_001098728.1	NP_001092198.1	WXS	Illumina HiSeq	Phase_I	Q6P1K8	T2H2L_HUMAN			11	946	+			251					A6NED9|A8K8J6|B2RCU4|B7ZW39	Missense_Mutation	SNP	ENST00000510979.1	37	c.751C>A	CCDS43325.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455751	0.63401	.	.	ENSG00000183474	ENST00000510979;ENST00000380729;ENST00000508344;ENST00000507595	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	2.83	2.83	0.33086	Ssl1-like (1);	0.111886	0.64402	D	0.000007	T	0.49813	0.1579	M	0.86178	2.8	0.80722	D	1	P	0.43662	0.814	P	0.53518	0.728	T	0.56312	-0.8000	9	.	.	.	-0.779	11.5675	0.50813	0.0:1.0:0.0:0.0	.	251	Q6P1K8	T2H2L_HUMAN	S	251;251;194;234	ENSP00000422907:R251S;ENSP00000370105:R251S;ENSP00000423952:R194S;ENSP00000427456:R234S	.	R	+	1	0	GTF2H2C	68911441	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.622000	0.74233	1.907000	0.55213	0.549000	0.68633	CGT		0.308	GTF2H2C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368637.3	0	NM_001098728		5:68875685
CGNL1	84952	broad.mit.edu	37	15	57731336	57731336	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:57731336C>A	ENST00000281282.5	+	2	1217	c.1139C>A	c.(1138-1140)aCa>aAa	p.T380K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	380	Head.		T -> P (in dbSNP:rs1280395). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1, ECO:0000269|Ref.4}.			myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGAATTAATACAGATGACAGG	0.443																																						ENST00000281282.5		NA																	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(1138-1140)aCa>aAa		cingulin-like 1							75.0	79.0	77.0					15																	57731336		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57731336C>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1139C>A	15.37:g.57731336C>A	ENSP00000281282:p.Thr380Lys	False	False		Somatic	0					p.T380K	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	WXS	Illumina HiSeq	Phase_I	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	1217	+			380		T -> P (in dbSNP:rs1280395).	Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.1139C>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322702	0.23994	.	.	ENSG00000128849	ENST00000281282	T	0.40476	1.03	5.79	4.88	0.63580	.	0.129534	0.35646	N	0.003062	T	0.23806	0.0576	N	0.03608	-0.345	0.21105	N	0.99979	B	0.02656	0.0	B	0.01281	0.0	T	0.27468	-1.0073	10	0.87932	D	0	-8.9807	14.9253	0.70871	0.0:0.9316:0.0:0.0684	.	380	Q0VF96	CGNL1_HUMAN	K	380	ENSP00000281282:T380K	ENSP00000281282:T380K	T	+	2	0	CGNL1	55518628	0.941000	0.31946	0.006000	0.13384	0.196000	0.23810	3.113000	0.50376	1.448000	0.47680	0.655000	0.94253	ACA		0.443	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	0	NM_032866		15:57731336
HEXA	3073	broad.mit.edu	37	15	72668191	72668191	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:72668191C>A	ENST00000268097.5	-	1	626	c.123G>T	c.(121-123)ccG>ccT	p.P41P	HEXA_ENST00000457859.2_5'Flank|HEXA-AS1_ENST00000567598.1_RNA|HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000567159.1_Silent_p.P41P|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Silent_p.P41P|HEXA_ENST00000429918.2_5'UTR	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	41					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GAAAGTTGTTCGGGTAAAGGA	0.622																																						ENST00000268097.5		NA																	0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						c.(121-123)ccG>ccT		hexosaminidase A (alpha polypeptide)							136.0	150.0	145.0					15																	72668191		2199	4297	6496	SO:0001819	synonymous_variant	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72668191C>A	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.123G>T	15.37:g.72668191C>A		True	False		Somatic	0				RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Silent_p.P41P|HEXA_ENST00000567159.1_Silent_p.P41P|HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000567213.1_5'UTR	p.P41P	NM_000520.4	NP_000511.2	WXS	Illumina HiSeq	Phase_I	P06865	HEXA_HUMAN			1	626	-			41					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Silent	SNP	ENST00000268097.5	37	c.123G>T	CCDS10243.1																																																																																				0.622	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	0	NM_000520		15:72668191
PHKG2	5261	broad.mit.edu	37	16	30762913	30762913	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:30762913G>T	ENST00000563588.1	+	4	554	c.315G>T	c.(313-315)ctG>ctT	p.L105L	RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000328273.7_Silent_p.L105L|PHKG2_ENST00000424889.3_Silent_p.L105L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.L105L(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			TCATGTTCCTGGTGTTTGACC	0.537																																						ENST00000563588.1		NA																	1	Substitution - coding silent(1)	p.L105L(1)	lung(1)	ovary(1)|skin(1)	2						c.(313-315)ctG>ctT		phosphorylase kinase, gamma 2 (testis)							510.0	447.0	468.0					16																	30762913		2197	4300	6497	SO:0001819	synonymous_variant	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30762913G>T	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.315G>T	16.37:g.30762913G>T		False	False		Somatic	0				PHKG2_ENST00000328273.7_Silent_p.L105L|PHKG2_ENST00000424889.3_Silent_p.L105L	p.L105L	NM_000294.2	NP_000285.1	WXS	Illumina HiSeq	Phase_I	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		4	554	+			105			Protein kinase.		A8K0C7|B4DEB7|E9PEU3|P11800	Silent	SNP	ENST00000563588.1	37	c.315G>T	CCDS10690.1																																																																																				0.537	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	0	NM_000294		16:30762913
FRMPD4	9758	broad.mit.edu	37	X	12736390	12736390	+	Missense_Mutation	SNP	C	C	A	rs376578782		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:12736390C>A	ENST00000380682.1	+	16	3951	c.3445C>A	c.(3445-3447)Cgc>Agc	p.R1149S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1149					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAAGGGGACCGCTTCTTAAC	0.547																																						ENST00000380682.1		NA																	0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(3445-3447)Cgc>Agc		FERM and PDZ domain containing 4							178.0	164.0	169.0					X																	12736390		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736390C>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3445C>A	X.37:g.12736390C>A	ENSP00000370057:p.Arg1149Ser	False	False		Somatic	0					p.R1149S	NM_014728.3	NP_055543.2	WXS	Illumina HiSeq	Phase_I	Q14CM0	FRPD4_HUMAN			16	3951	+			1149					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.3445C>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	4.574	0.106565	0.08780	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05382	3.45	5.4	3.44	0.39384	.	0.470669	0.24506	N	0.037922	T	0.02494	0.0076	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47114	-0.9142	10	0.12430	T	0.62	-3.5221	7.3842	0.26872	0.299:0.6019:0.0:0.0991	.	1141;1149	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	S	1149;1140;1138	ENSP00000370057:R1149S	ENSP00000304583:R1138S	R	+	1	0	FRMPD4	12646311	0.028000	0.19301	0.989000	0.46669	0.915000	0.54546	1.772000	0.38552	1.052000	0.40392	0.600000	0.82982	CGC		0.547	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	0	XM_045712		X:12736390
MAP1LC3B2	643246	broad.mit.edu	37	12	117014104	117014104	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:117014104C>A	ENST00000556529.1	+	1	449	c.357C>A	c.(355-357)ttC>ttA	p.F119L	MAP1LC3B2_ENST00000306985.4_Missense_Mutation_p.F119L			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	119					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)				breast(1)|large_intestine(2)|lung(3)	6						AGGAGACGTTCGGGATGAAAT	0.423																																						ENST00000306985.4		NA																	0				breast(1)|large_intestine(2)|lung(3)	6						c.(355-357)ttC>ttA		microtubule-associated protein 1 light chain 3 beta 2							154.0	153.0	153.0					12																	117014104		2203	4300	6503	SO:0001583	missense	643246				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule		g.chr12:117014104C>A		CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.357C>A	12.37:g.117014104C>A	ENSP00000450524:p.Phe119Leu	True	False		Somatic	0				MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.F119L	p.F119L	NM_001085481.1	NP_001078950.1	WXS	Illumina HiSeq	Phase_I	A6NCE7	MP3B2_HUMAN			2	511	+			119						Missense_Mutation	SNP	ENST00000556529.1	37	c.357C>A	CCDS41841.1	.	.	.	.	.	.	.	.	.	.	c	11.97	1.796431	0.31777	.	.	ENSG00000171471	ENST00000306985;ENST00000556529	T;T	0.56275	0.47;0.47	2.39	-2.65	0.06095	.	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	M	0.74881	2.28	0.45648	D	0.998576	D	0.54772	0.968	P	0.60415	0.874	T	0.57112	-0.7867	10	0.87932	D	0	.	2.6389	0.04965	0.2028:0.2782:0.0:0.5189	.	119	A6NCE7	MP3B2_HUMAN	L	119	ENSP00000305059:F119L;ENSP00000450524:F119L	ENSP00000305059:F119L	F	+	3	2	MAP1LC3B2	115498487	0.991000	0.36638	0.134000	0.22075	0.174000	0.22865	0.044000	0.13992	-0.663000	0.05331	-0.587000	0.04127	TTC		0.423	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	0	NM_001085481		12:117014104
PALLD	23022	broad.mit.edu	37	4	169812152	169812152	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:169812152C>A	ENST00000505667.1	+	11	2217	c.2044C>A	c.(2044-2046)Caa>Aaa	p.Q682K	PALLD_ENST00000512127.1_Missense_Mutation_p.Q300K|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.Q195K|PALLD_ENST00000261509.6_Missense_Mutation_p.Q682K|PALLD_ENST00000335742.7_Missense_Mutation_p.Q524K			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	906	Interaction with ARGBP2, SPIN90 and SRC.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGCTGTTATTCAAGACCTGGA	0.468									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7		NA																	0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(1570-1572)Caa>Aaa		palladin, cytoskeletal associated protein							93.0	90.0	91.0					4																	169812152		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169812152C>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2044C>A	4.37:g.169812152C>A	ENSP00000425556:p.Gln682Lys	False	False		Somatic	0				PALLD_ENST00000261509.6_Missense_Mutation_p.Q682K|PALLD_ENST00000512127.1_Missense_Mutation_p.Q300K|PALLD_ENST00000507735.1_Missense_Mutation_p.Q195K|PALLD_ENST00000505667.1_Missense_Mutation_p.Q682K|CBR4_ENST00000509108.1_Intron	p.Q524K			WXS	Illumina HiSeq	Phase_I	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	12	2927	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	906			Ig-like C2-type 2.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.1570C>A	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866449	0.51588	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	T;T;T;T;T	0.69926	-0.44;-0.39;-0.26;-0.4;0.11	5.44	5.44	0.79542	.	0.000000	0.31268	U	0.007955	T	0.57917	0.2086	L	0.61036	1.89	0.80722	D	1	P;B;B;P	0.39060	0.657;0.451;0.088;0.518	B;B;B;B	0.28232	0.087;0.086;0.025;0.087	T	0.62272	-0.6889	10	0.05959	T	0.93	.	19.2535	0.93935	0.0:1.0:0.0:0.0	.	682;906;300;682	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	K	682;524;682;300;195	ENSP00000261509:Q682K;ENSP00000336735:Q524K;ENSP00000425556:Q682K;ENSP00000426947:Q300K;ENSP00000424016:Q195K	ENSP00000261509:Q682K	Q	+	1	0	PALLD	170048727	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.703000	0.84585	2.540000	0.85666	0.591000	0.81541	CAA		0.468	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	0	NM_016081		4:169812152
CCDC85A	114800	broad.mit.edu	37	2	56419683	56419683	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:56419683G>A	ENST00000407595.2	+	2	850	c.348G>A	c.(346-348)cgG>cgA	p.R116R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	116										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATGATGACCGGCAGAAAGGCA	0.532																																						ENST00000407595.2		NA																	0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(346-348)cgG>cgA		coiled-coil domain containing 85A							75.0	82.0	80.0					2																	56419683		1972	4162	6134	SO:0001819	synonymous_variant	114800							g.chr2:56419683G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.348G>A	2.37:g.56419683G>A		False	False		Somatic	0				RP11-482H16.1_ENST00000607540.1_RNA	p.R116R	NM_001080433.1	NP_001073902.1	WXS	Illumina HiSeq	Phase_I	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	850	+			116						Silent	SNP	ENST00000407595.2	37	c.348G>A	CCDS46290.1																																																																																				0.532	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1	0			2:56419683
SLC19A3	80704	broad.mit.edu	37	2	228564041	228564041	+	Silent	SNP	C	C	A	rs376187918		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:228564041C>A	ENST00000258403.3	-	3	461	c.390G>T	c.(388-390)gtG>gtT	p.V130V	SLC19A3_ENST00000541617.1_Silent_p.V126V|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	130					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CGGGGCTGACCACGCTGTATA	0.587																																						ENST00000258403.3		NA																	0				breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(388-390)gtG>gtT		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)	C		0,4406		0,0,2203	86.0	86.0	86.0		390	5.9	1.0	2		86	1,8599		0,1,4299	no	coding-synonymous	SLC19A3	NM_025243.3		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		130/497	228564041	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228564041C>A	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.390G>T	2.37:g.228564041C>A		False	False		Somatic	0				SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.V126V	p.V130V	NM_025243.3	NP_079519.1	WXS	Illumina HiSeq	Phase_I	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	461	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	130						Silent	SNP	ENST00000258403.3	37	c.390G>T	CCDS2468.1																																																																																				0.587	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1	0			2:228564041
FAT2	2196	broad.mit.edu	37	5	150907603	150907603	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:150907603G>T	ENST00000261800.5	-	15	10130	c.10118C>A	c.(10117-10119)cCc>cAc	p.P3373H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3373	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCTTTTTGGGGTGAATGGT	0.562																																						ENST00000261800.5		NA																	0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(10117-10119)cCc>cAc		FAT atypical cadherin 2							113.0	102.0	106.0					5																	150907603		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150907603G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10118C>A	5.37:g.150907603G>T	ENSP00000261800:p.Pro3373His	True	False		Somatic	0					p.P3373H	NM_001447.2	NP_001438.1	WXS	Illumina HiSeq	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	10130	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3373			Cadherin 30.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.10118C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953301	0.92660	.	.	ENSG00000086570	ENST00000261800	T	0.55234	0.53	5.73	5.73	0.89815	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.73806	0.3634	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.74757	-0.3557	10	0.66056	D	0.02	.	19.9191	0.97079	0.0:0.0:1.0:0.0	.	3373;564	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	H	3373	ENSP00000261800:P3373H	ENSP00000261800:P3373H	P	-	2	0	FAT2	150887796	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.349000	0.97066	2.707000	0.92482	0.643000	0.83706	CCC		0.562	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	NM_001447		5:150907603
RSC1A1	6248	broad.mit.edu	37	1	15988098	15988098	+	Missense_Mutation	SNP	C	C	A	rs374978366		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:15988098C>A	ENST00000345034.1	+	1	1735	c.1735C>A	c.(1735-1737)Cgc>Agc	p.R579S	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	579	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATATTGACCGCATTCTCCG	0.468																																						ENST00000345034.1		NA																	0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(1735-1737)Cgc>Agc		regulatory solute carrier protein, family 1, member 1							219.0	201.0	207.0					1																	15988098		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15988098C>A	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1735C>A	1.37:g.15988098C>A	ENSP00000341963:p.Arg579Ser	False	False		Somatic	0				DDI2_ENST00000480945.1_3'UTR	p.R579S	NM_006511.1	NP_006502.1	WXS	Illumina HiSeq	Phase_I	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1735	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	579			UBA.		B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.1735C>A	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291445	0.59976	.	.	ENSG00000215695	ENST00000345034	T	0.56103	0.48	5.96	5.03	0.67393	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);	0.000000	0.56097	D	0.000027	T	0.54062	0.1835	N	0.08118	0	0.37857	D	0.929571	D	0.89917	1.0	D	0.91635	0.999	T	0.67745	-0.5591	10	0.87932	D	0	-44.9555	14.8264	0.70117	0.1494:0.8506:0.0:0.0	.	579	Q92681	RSCA1_HUMAN	S	579	ENSP00000341963:R579S	ENSP00000341963:R579S	R	+	1	0	RSC1A1	15860685	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.805000	0.47939	1.466000	0.48025	0.655000	0.94253	CGC		0.468	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	0	NM_006511		1:15988098
SPOCK3	50859	broad.mit.edu	37	4	167983676	167983676	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:167983676G>T	ENST00000357154.3	-	4	348	c.211C>A	c.(211-213)Cgc>Agc	p.R71S	SPOCK3_ENST00000504953.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000510741.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R20S|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R68S|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R71S	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	71					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTCCAAGTGCGGAAATAATCA	0.299																																						ENST00000357154.3		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(211-213)Cgc>Agc		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							64.0	67.0	66.0					4																	167983676		2201	4296	6497	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167983676G>T	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.211C>A	4.37:g.167983676G>T	ENSP00000349677:p.Arg71Ser	False	False		Somatic	0				SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R68S|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R20S|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000510741.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000535728.1_5'UTR	p.R71S	NM_016950.2	NP_058646.2	WXS	Illumina HiSeq	Phase_I	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	4	348	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	71					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.211C>A	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906066	0.72868	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000511269;ENST00000421836;ENST00000512648;ENST00000510403;ENST00000509854;ENST00000506697;ENST00000512042	T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	1.44;1.46;1.46;1.44;1.44;1.44;1.46;1.46;1.15;2.19;0.81;0.85;0.85	4.61	4.61	0.57282	.	0.144426	0.45606	D	0.000348	T	0.67401	0.2889	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.997;0.997;0.992;0.998;0.997	D;D;D;P;D;D	0.80764	0.978;0.987;0.987;0.89;0.994;0.987	T	0.67385	-0.5684	10	0.37606	T	0.19	5.3673	17.402	0.87463	0.0:0.0:1.0:0.0	.	20;80;68;71;68;71	B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;TICN3_HUMAN	S	71;68;68;71;71;71;68;68;20;68;68;68;71;71	ENSP00000349677:R71S;ENSP00000350153:R68S;ENSP00000425570:R68S;ENSP00000420920:R71S;ENSP00000423421:R71S;ENSP00000423606:R71S;ENSP00000426716:R68S;ENSP00000425502:R68S;ENSP00000411344:R20S;ENSP00000426177:R68S;ENSP00000423367:R68S;ENSP00000424168:R71S;ENSP00000425407:R71S	ENSP00000349677:R71S	R	-	1	0	SPOCK3	168220251	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.187000	0.72039	2.296000	0.77279	0.585000	0.79938	CGC		0.299	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1	0			4:167983676
NBPF1	55672	broad.mit.edu	37	1	16902777	16902777	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:16902777G>T	ENST00000430580.2	-	19	2991	c.2104C>A	c.(2104-2106)Caa>Aaa	p.Q702K	NBPF1_ENST00000287968.8_Missense_Mutation_p.Q67K|NBPF1_ENST00000420031.2_5'Flank|NBPF1_ENST00000432949.1_Missense_Mutation_p.Q160K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	702						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTGAGCTTTTGGACAAGGTGC	0.562																																						ENST00000430580.2		NA																	0					NA						c.(2104-2106)Caa>Aaa		neuroblastoma breakpoint family, member 1							124.0	139.0	133.0					1																	16902777		1509	2700	4209	SO:0001583	missense	55672					cytoplasm		g.chr1:16902777G>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2104C>A	1.37:g.16902777G>T	ENSP00000474456:p.Gln702Lys	True	False		Somatic	0				NBPF1_ENST00000287968.8_Missense_Mutation_p.Q67K|NBPF1_ENST00000432949.1_Missense_Mutation_p.Q160K	p.Q702K	NM_017940.3	NP_060410.2	WXS	Illumina HiSeq	Phase_I	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2991	-			702					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2104C>A																																																																																					0.562	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	0	NM_017940		1:16902777
CDKL5	6792	broad.mit.edu	37	X	18631387	18631387	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:18631387C>A	ENST00000379989.3	+	16	2553	c.2268C>A	c.(2266-2268)ttC>ttA	p.F756L	CDKL5_ENST00000379996.3_Missense_Mutation_p.F756L|CDKL5_ENST00000463994.1_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	756				Missing (in Ref. 5; CAA61445). {ECO:0000305}.	neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AACCAGCATTCGATCCATGGT	0.353																																						ENST00000379989.3		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(2266-2268)ttC>ttA		cyclin-dependent kinase-like 5							122.0	117.0	119.0					X																	18631387		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18631387C>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2268C>A	X.37:g.18631387C>A	ENSP00000369325:p.Phe756Leu	False	False		Somatic	0				CDKL5_ENST00000463994.1_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.F756L	p.F756L	NM_001037343.1	NP_001032420.1	WXS	Illumina HiSeq	Phase_I	O76039	CDKL5_HUMAN			16	2553	+	Hepatocellular(33;0.183)		756	Missing (in Ref. 4; CAA61445).				G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2268C>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921786	0.73213	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.79554	-1.28;-1.28	5.03	-2.85	0.05734	.	0.000000	0.85682	D	0.000000	T	0.81153	0.4763	L	0.34521	1.04	0.34699	D	0.726521	D	0.76494	0.999	D	0.74674	0.984	T	0.81752	-0.0789	10	0.72032	D	0.01	-19.4956	12.8858	0.58042	0.0:0.1006:0.0:0.8994	.	756	O76039	CDKL5_HUMAN	L	756	ENSP00000369332:F756L;ENSP00000369325:F756L	ENSP00000369325:F756L	F	+	3	2	CDKL5	18541308	0.962000	0.33011	0.770000	0.31555	0.993000	0.82548	0.020000	0.13466	-0.882000	0.03987	0.499000	0.49734	TTC		0.353	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	0	NM_003159		X:18631387
ACO1	48	broad.mit.edu	37	9	32408531	32408531	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:32408531G>T	ENST00000309951.6	+	4	424	c.286G>T	c.(286-288)Gac>Tac	p.D96Y	ACO1_ENST00000379923.1_Missense_Mutation_p.D96Y|ACO1_ENST00000541043.1_5'UTR	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	96					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGCTGTGGTTGACTTTGCTGC	0.418																																						ENST00000309951.6		NA																	0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(286-288)Gac>Tac		aconitase 1, soluble							159.0	149.0	153.0					9																	32408531		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32408531G>T	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.286G>T	9.37:g.32408531G>T	ENSP00000309477:p.Asp96Tyr	False	False		Somatic	0				ACO1_ENST00000379923.1_Missense_Mutation_p.D96Y|ACO1_ENST00000541043.1_5'UTR	p.D96Y	NM_002197.2	NP_002188.1	WXS	Illumina HiSeq	Phase_I	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	4	424	+			NA					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.286G>T	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699540	0.88830	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921	T;T	0.49720	0.77;0.77	5.96	5.96	0.96718	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89212	0.3565	10	0.87932	D	0	-8.9451	19.1796	0.93617	0.0:0.0:1.0:0.0	.	96	P21399	ACOC_HUMAN	Y	132;96;96;96	ENSP00000309477:D96Y;ENSP00000369255:D96Y	ENSP00000309477:D96Y	D	+	1	0	ACO1	32398531	1.000000	0.71417	0.996000	0.52242	0.884000	0.51177	9.809000	0.99208	2.814000	0.96858	0.655000	0.94253	GAC		0.418	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	0	NM_002197		9:32408531
TRAF6	7189	broad.mit.edu	37	11	36518716	36518716	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:36518716G>T	ENST00000526995.1	-	4	794	c.548C>A	c.(547-549)cCa>cAa	p.P183Q	TRAF6_ENST00000348124.5_Missense_Mutation_p.P183Q|TRAF6_ENST00000529150.1_5'Flank	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	183	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CTGTCTCCTTGGACAATCCTT	0.383																																						ENST00000526995.1		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(547-549)cCa>cAa		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							85.0	85.0	85.0					11																	36518716		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36518716G>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.548C>A	11.37:g.36518716G>T	ENSP00000433623:p.Pro183Gln	False	False		Somatic	0				TRAF6_ENST00000348124.5_Missense_Mutation_p.P183Q	p.P183Q	NM_004620.3	NP_004611.1	WXS	Illumina HiSeq	Phase_I	Q9Y4K3	TRAF6_HUMAN			4	794	-	all_lung(20;0.211)	all_hematologic(20;0.107)	183			Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.548C>A	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231445	0.39399	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.32023	1.47;1.47	5.49	4.58	0.56647	Zinc finger, TRAF-type (1);	0.202993	0.47093	D	0.000247	T	0.25494	0.0620	L	0.58428	1.81	0.45806	D	0.99868	P	0.40266	0.71	B	0.31442	0.13	T	0.06075	-1.0847	10	0.13470	T	0.59	-14.1184	14.391	0.66978	0.0711:0.0:0.9289:0.0	.	183	Q9Y4K3	TRAF6_HUMAN	Q	183	ENSP00000433623:P183Q;ENSP00000337853:P183Q	ENSP00000337853:P183Q	P	-	2	0	TRAF6	36475292	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	1.971000	0.40530	1.325000	0.45301	0.650000	0.86243	CCA		0.383	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	0	NM_145803		11:36518716
MARCH7	64844	broad.mit.edu	37	2	160605292	160605292	+	Silent	SNP	C	C	A	rs149881046	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:160605292C>A	ENST00000259050.4	+	5	1613	c.1491C>A	c.(1489-1491)acC>acA	p.T497T	MARCH7_ENST00000539065.1_Silent_p.T441T|MARCH7_ENST00000409591.1_Silent_p.T459T|MARCH7_ENST00000409175.1_Silent_p.T497T	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	497					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GTAATTTGACCGACAATGTCA	0.423																																						ENST00000259050.4		NA																	0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(1489-1491)acC>acA		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							176.0	193.0	187.0					2																	160605292		2203	4300	6503	SO:0001819	synonymous_variant	64844						ligase activity|zinc ion binding	g.chr2:160605292C>A	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1491C>A	2.37:g.160605292C>A		False	False		Somatic	0				MARCH7_ENST00000409175.1_Silent_p.T497T|MARCH7_ENST00000409591.1_Silent_p.T459T|MARCH7_ENST00000539065.1_Silent_p.T441T	p.T497T	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	WXS	Illumina HiSeq	Phase_I	Q9H992	MARH7_HUMAN			5	1613	+			NA					A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Silent	SNP	ENST00000259050.4	37	c.1491C>A	CCDS2210.1																																																																																				0.423	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	0	NM_022826		2:160605292
SLC4A7	9497	broad.mit.edu	37	3	27439802	27439802	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:27439802C>A	ENST00000295736.5	-	17	2513	c.2443G>T	c.(2443-2445)Ggt>Tgt	p.G815C	SLC4A7_ENST00000388777.4_Missense_Mutation_p.G365C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G700C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G824C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G691C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G807C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	815					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CCATGATGACCACAAGCTGAC	0.363																																						ENST00000295736.5		NA																	0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2443-2445)Ggt>Tgt		solute carrier family 4, sodium bicarbonate cotransporter, member 7							119.0	120.0	119.0					3																	27439802		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27439802C>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2443G>T	3.37:g.27439802C>A	ENSP00000295736:p.Gly815Cys	False	False		Somatic	0				SLC4A7_ENST00000435667.2_Missense_Mutation_p.G700C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G824C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G365C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G807C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G691C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G696C	p.G815C	NM_003615.4	NP_003606.3	WXS	Illumina HiSeq	Phase_I	Q9Y6M7	S4A7_HUMAN			17	2513	-			815					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.2443G>T	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874189	0.72180	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.71	0.654	0.17833	Bicarbonate transporter, C-terminal (1);	0.319899	0.37483	N	0.002069	D	0.87406	0.6169	M	0.88704	2.975	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.991;0.99;0.988;1.0;1.0;0.998	D;D;D;D;D;D;D;D;D	0.87578	0.998;0.996;0.998;0.953;0.965;0.921;0.994;0.998;0.979	D	0.85536	0.1212	10	0.66056	D	0.02	.	9.6876	0.40109	0.0:0.6546:0.0:0.3454	.	811;696;807;811;824;365;691;815;696	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	366;815;691;824;811;696;807;696;811;700;365;711	ENSP00000411031:G366C;ENSP00000295736:G815C;ENSP00000416368:G691C;ENSP00000390394:G824C;ENSP00000414797:G811C;ENSP00000394252:G696C;ENSP00000406605:G807C;ENSP00000407382:G696C;ENSP00000406804:G811C;ENSP00000395336:G700C;ENSP00000373429:G365C;ENSP00000388703:G711C	ENSP00000295736:G815C	G	-	1	0	SLC4A7	27414806	0.989000	0.36119	0.287000	0.24848	0.950000	0.60333	0.479000	0.22228	-0.163000	0.10946	0.563000	0.77884	GGT		0.363	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	0	NM_003615		3:27439802
ZNF613	79898	broad.mit.edu	37	19	52447796	52447796	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:52447796C>A	ENST00000293471.6	+	6	1339	c.660C>A	c.(658-660)atC>atA	p.I220I	ZNF613_ENST00000391794.4_Silent_p.I184I	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	220					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(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTCGCCTCATCTATCATCAGA	0.458																																						ENST00000293471.6		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(658-660)atC>atA		zinc finger protein 613							160.0	165.0	163.0					19																	52447796		2203	4300	6503	SO:0001819	synonymous_variant	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52447796C>A	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.660C>A	19.37:g.52447796C>A		False	False		Somatic	0				ZNF613_ENST00000391794.4_Silent_p.I184I	p.I220I	NM_001031721.3	NP_001026891.2	WXS	Illumina HiSeq	Phase_I	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1339	+		all_neural(266;0.117)	220					Q96SS9	Silent	SNP	ENST00000293471.6	37	c.660C>A	CCDS33089.1																																																																																				0.458	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	0	NM_024840		19:52447796
PHF3	23469	broad.mit.edu	37	6	64390021	64390021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:64390021C>A	ENST00000262043.3	+	3	705	c.365C>A	c.(364-366)tCa>tAa	p.S122*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.S122*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.S122*			Q92576	PHF3_HUMAN	PHD finger protein 3	122					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAGAAAATTCAGTGAGATCT	0.383																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3		NA																	0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(364-366)tCa>tAa		PHD finger protein 3							152.0	150.0	151.0					6																	64390021		2203	4300	6503	SO:0001587	stop_gained	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64390021C>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.365C>A	6.37:g.64390021C>A	ENSP00000262043:p.Ser122*	False	False		Somatic	0				PHF3_ENST00000393387.1_Nonsense_Mutation_p.S122*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.S122*	p.S122*			WXS	Illumina HiSeq	Phase_I	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	705	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		122					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	37	c.365C>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	37	6.065655	0.97251	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	.	.	.	5.98	5.98	0.97165	.	0.000000	0.32608	N	0.005877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.529	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	X	34;122;75;122;122;52	.	ENSP00000262043:S122X	S	+	2	0	PHF3	64447980	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.034000	0.57289	2.838000	0.97847	0.591000	0.81541	TCA		0.383	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	0			6:64390021
ACSM2B	348158	broad.mit.edu	37	16	20548635	20548635	+	Missense_Mutation	SNP	C	C	A	rs369392849		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:20548635C>A	ENST00000329697.6	-	14	1847	c.1679G>T	c.(1678-1680)cGa>cTa	p.R560L	ACSM2B_ENST00000565232.1_Missense_Mutation_p.R560L|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R560L|ACSM2B_ENST00000565322.1_Missense_Mutation_p.R481L	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	560					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AAGTTTGGTTCGTTGAATTTT	0.473																																						ENST00000329697.6		NA																	0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1678-1680)cGa>cTa		acyl-CoA synthetase medium-chain family member 2B							258.0	237.0	244.0					16																	20548635		2202	4300	6502	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20548635C>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1679G>T	16.37:g.20548635C>A	ENSP00000327453:p.Arg560Leu	False	False		Somatic	0				ACSM2B_ENST00000565322.1_Missense_Mutation_p.R481L|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R560L|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R560L	p.R560L	NM_001105069.1	NP_001098539.1	WXS	Illumina HiSeq	Phase_I	Q68CK6	ACS2B_HUMAN			14	1847	-			560					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1679G>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771870	0.31320	.	.	ENSG00000066813	ENST00000329697	T	0.61980	0.06	3.09	2.12	0.27331	.	0.000000	0.37577	N	0.002027	T	0.73636	0.3612	M	0.66297	2.02	0.29017	N	0.886545	D	0.89917	1.0	D	0.97110	1.0	T	0.67852	-0.5563	10	0.87932	D	0	-10.6762	9.9369	0.41556	0.0:0.8946:0.0:0.1054	.	560	Q68CK6	ACS2B_HUMAN	L	560	ENSP00000327453:R560L	ENSP00000327453:R560L	R	-	2	0	ACSM2B	20456136	0.011000	0.17503	0.002000	0.10522	0.037000	0.13140	2.510000	0.45468	0.617000	0.30160	-0.192000	0.12808	CGA		0.473	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	0	NM_182617		16:20548635
DOCK11	139818	broad.mit.edu	37	X	117796744	117796744	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:117796744C>A	ENST00000276202.7	+	45	5128	c.5065C>A	c.(5065-5067)Cat>Aat	p.H1689N	DOCK11_ENST00000276204.6_Missense_Mutation_p.H1689N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1689	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GATGGATGTCCATTATAGTGA	0.338																																						ENST00000276204.6		NA																	0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(5065-5067)Cat>Aat		dedicator of cytokinesis 11							96.0	82.0	87.0					X																	117796744		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117796744C>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5065C>A	X.37:g.117796744C>A	ENSP00000276202:p.His1689Asn	False	False		Somatic	0				DOCK11_ENST00000276202.7_Missense_Mutation_p.H1689N	p.H1689N			WXS	Illumina HiSeq	Phase_I	Q5JSL3	DOC11_HUMAN			45	5139	+			1689			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.5065C>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978984	0.34942	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18016	2.24;2.24	5.61	5.61	0.85477	.	0.052227	0.85682	D	0.000000	T	0.24392	0.0591	M	0.64997	1.995	0.36635	D	0.876492	P;P	0.46020	0.871;0.871	P;P	0.46237	0.508;0.508	T	0.12708	-1.0537	10	0.51188	T	0.08	-15.4143	11.2768	0.49172	0.0:0.9153:0.0:0.0847	.	1689;1689	A6NIW2;Q5JSL3	.;DOC11_HUMAN	N	1689	ENSP00000276204:H1689N;ENSP00000276202:H1689N	ENSP00000276202:H1689N	H	+	1	0	DOCK11	117680772	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	2.358000	0.44134	2.493000	0.84123	0.600000	0.82982	CAT		0.338	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	0	NM_144658		X:117796744
COQ10B	80219	broad.mit.edu	37	2	198338490	198338490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:198338490G>T	ENST00000263960.2	+	5	697	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	COQ10B_ENST00000409010.1_Nonsense_Mutation_p.E159*|COQ10B_ENST00000409398.1_Nonsense_Mutation_p.E137*|COQ10B_ENST00000545340.1_Nonsense_Mutation_p.E144*	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	187						mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATTTCTTTTGAATTTCGATC	0.333																																						ENST00000263960.2		NA																	0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(559-561)Gaa>Taa		coenzyme Q10 homolog B (S. cerevisiae)							46.0	46.0	46.0					2																	198338490		2203	4300	6503	SO:0001587	stop_gained	80219					mitochondrial inner membrane		g.chr2:198338490G>T	AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog B (yeast)"""				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.559G>T	2.37:g.198338490G>T	ENSP00000263960:p.Glu187*	True	False		Somatic	0				COQ10B_ENST00000409010.1_Nonsense_Mutation_p.E159*|COQ10B_ENST00000409398.1_Nonsense_Mutation_p.E137*|COQ10B_ENST00000545340.1_Nonsense_Mutation_p.E144*	p.E187*	NM_025147.3	NP_079423.1	WXS	Illumina HiSeq	Phase_I	Q9H8M1	CQ10B_HUMAN	Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		5	697	+			187					B7Z1Y4	Nonsense_Mutation	SNP	ENST00000263960.2	37	c.559G>T	CCDS2319.1	.	.	.	.	.	.	.	.	.	.	G	38	7.256417	0.98168	.	.	ENSG00000115520	ENST00000263960;ENST00000409398;ENST00000545340;ENST00000409010	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-4.0466	18.5442	0.91040	0.0:0.0:1.0:0.0	.	.	.	.	X	187;137;144;159	.	ENSP00000263960:E187X	E	+	1	0	COQ10B	198046735	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.777000	0.99008	2.371000	0.80710	0.585000	0.79938	GAA		0.333	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256105.2	0	NM_025147		2:198338490
POGLUT1	56983	broad.mit.edu	37	3	119190184	119190184	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:119190184C>A	ENST00000295588.4	+	3	289	c.205C>A	c.(205-207)Cga>Aga	p.R69R		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	69					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						AACTCCTTTCCGAGGAGGCAT	0.498																																						ENST00000295588.4		NA																	0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(205-207)Cga>Aga		protein O-glucosyltransferase 1							248.0	244.0	245.0					3																	119190184		2203	4300	6503	SO:0001819	synonymous_variant	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119190184C>A	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.205C>A	3.37:g.119190184C>A		False	False		Somatic	0					p.R69R	NM_152305.2	NP_689518.1	WXS	Illumina HiSeq	Phase_I	Q8NBL1	PGLT1_HUMAN			3	289	+			69					B2RD13|Q53GJ4|Q8N2T1	Silent	SNP	ENST00000295588.4	37	c.205C>A	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092898	0.20471	.	.	ENSG00000163389	ENST00000476573	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	T	0.69097	0.3073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68123	-0.5492	4	.	.	.	-6.1614	13.7387	0.62833	0.0:1.0:0.0:0.0	.	.	.	.	Q	55	.	.	P	+	2	0	POGLUT1	120672874	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.904000	0.48719	2.312000	0.78011	0.561000	0.74099	CCG		0.498	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	0	NM_152305		3:119190184
KL	9365	broad.mit.edu	37	13	33628294	33628294	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:33628294G>T	ENST00000380099.3	+	2	1218	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	KL_ENST00000426690.2_Nonsense_Mutation_p.E97*|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	404	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GATTGACCTTGAATTTAACCA	0.418																																						ENST00000380099.3		NA																	0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(1210-1212)Gaa>Taa		klotho							153.0	159.0	157.0					13																	33628294		2203	4300	6503	SO:0001587	stop_gained	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33628294G>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1210G>T	13.37:g.33628294G>T	ENSP00000369442:p.Glu404*	False	False		Somatic	0				KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Nonsense_Mutation_p.E97*	p.E404*	NM_004795.3	NP_004786.2	WXS	Illumina HiSeq	Phase_I	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	2	1218	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	404			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Nonsense_Mutation	SNP	ENST00000380099.3	37	c.1210G>T	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	38	7.221397	0.98143	.	.	ENSG00000133116	ENST00000426690;ENST00000380099	.	.	.	5.9	5.9	0.94986	.	0.047074	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-31.2488	15.7291	0.77788	0.0:0.1359:0.8641:0.0	.	.	.	.	X	97;404	.	ENSP00000369442:E404X	E	+	1	0	KL	32526294	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.776000	0.85560	2.806000	0.96561	0.655000	0.94253	GAA		0.418	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1	0			13:33628294
OSGIN2	734	broad.mit.edu	37	8	90926876	90926876	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:90926876G>T	ENST00000297438.2	+	4	653	c.298G>T	c.(298-300)Ggg>Tgg	p.G100W	OSGIN2_ENST00000520659.1_Missense_Mutation_p.G144W|OSGIN2_ENST00000451899.2_Missense_Mutation_p.G144W	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	100					meiotic nuclear division (GO:0007126)			p.G100W(1)|p.G144W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGCTGACTTTGGGTATGATTA	0.448																																						ENST00000451899.2		NA																	2	Substitution - Missense(2)	p.G100W(1)|p.G144W(1)	lung(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17						c.(430-432)Ggg>Tgg		oxidative stress induced growth inhibitor family member 2							213.0	196.0	202.0					8																	90926876		2203	4300	6503	SO:0001583	missense	734				germ cell development|meiosis			g.chr8:90926876G>T	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.298G>T	8.37:g.90926876G>T	ENSP00000297438:p.Gly100Trp	True	False		Somatic	0				OSGIN2_ENST00000520659.1_Missense_Mutation_p.G144W|OSGIN2_ENST00000297438.2_Missense_Mutation_p.G100W	p.G144W	NM_001126111.1	NP_001119583.1	WXS	Illumina HiSeq	Phase_I	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		4	690	+			100						Missense_Mutation	SNP	ENST00000297438.2	37	c.430G>T	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946518	0.92593	.	.	ENSG00000164823	ENST00000297438;ENST00000451899;ENST00000520659	T;T;T	0.10288	2.89;2.89;2.89	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.35798	-0.9774	10	0.87932	D	0	-11.2268	19.9187	0.97077	0.0:0.0:1.0:0.0	.	144;100	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	W	100;144;144	ENSP00000297438:G100W;ENSP00000396445:G144W;ENSP00000431029:G144W	ENSP00000297438:G100W	G	+	1	0	OSGIN2	90996050	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.702000	0.92279	0.591000	0.81541	GGG		0.448	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	0	NM_004337		8:90926876
PARP4	143	broad.mit.edu	37	13	25029162	25029162	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:25029162G>T	ENST00000381989.3	-	22	2856	c.2751C>A	c.(2749-2751)ttC>ttA	p.F917L	PARP4_ENST00000480576.1_5'Flank	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	917	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CACCTGTGCCGAACTGGATAA	0.532																																						ENST00000381989.3		NA																	0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2749-2751)ttC>ttA		poly (ADP-ribose) polymerase family, member 4							226.0	195.0	206.0					13																	25029162		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25029162G>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2751C>A	13.37:g.25029162G>T	ENSP00000371419:p.Phe917Leu	False	False		Somatic	0					p.F917L	NM_006437.3	NP_006428.2	WXS	Illumina HiSeq	Phase_I	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	22	2856	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	917			VWFA.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.2751C>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772737	0.69992	.	.	ENSG00000102699	ENST00000381989	T	0.38077	1.16	4.72	-0.894	0.10563	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	M	0.89287	3.02	0.42033	D	0.991034	D	0.76494	0.999	D	0.80764	0.994	T	0.59768	-0.7392	10	0.87932	D	0	-24.2667	8.1535	0.31154	0.6155:0.0:0.3845:0.0	.	917	Q9UKK3	PARP4_HUMAN	L	917	ENSP00000371419:F917L	ENSP00000371419:F917L	F	-	3	2	PARP4	23927162	0.993000	0.37304	0.961000	0.40146	0.954000	0.61252	0.325000	0.19628	-0.205000	0.10219	-0.476000	0.04901	TTC		0.532	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	0	NM_006437		13:25029162
ANKRD12	23253	broad.mit.edu	37	18	9275594	9275594	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:9275594C>A	ENST00000262126.4	+	11	6076	c.5836C>A	c.(5836-5838)Caa>Aaa	p.Q1946K	ANKRD12_ENST00000383440.2_Missense_Mutation_p.Q1923K|ANKRD12_ENST00000400020.3_Missense_Mutation_p.Q1923K|snoU13_ENST00000459594.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1946						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATTGGCAAATCAAACACTGCC	0.343																																						ENST00000262126.4		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(5836-5838)Caa>Aaa		ankyrin repeat domain 12							175.0	161.0	166.0					18																	9275594		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9275594C>A	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5836C>A	18.37:g.9275594C>A	ENSP00000262126:p.Gln1946Lys	True	False		Somatic	0				ANKRD12_ENST00000383440.2_Missense_Mutation_p.Q1923K|ANKRD12_ENST00000400020.3_Missense_Mutation_p.Q1923K	p.Q1946K	NM_015208.4	NP_056023.3	WXS	Illumina HiSeq	Phase_I	Q6UB98	ANR12_HUMAN			11	6076	+			NA					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.5836C>A	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535525	0.96460	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.70869	-0.52;-0.52	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.85418	0.5692	M	0.79123	2.44	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.72982	0.979;0.952	D	0.85713	0.1320	10	0.87932	D	0	-16.6689	20.5211	0.99222	0.0:1.0:0.0:0.0	.	1923;1946	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	K	1923;1946	ENSP00000372932:Q1923K;ENSP00000262126:Q1946K	ENSP00000262126:Q1946K	Q	+	1	0	ANKRD12	9265594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.861000	0.98227	0.650000	0.86243	CAA		0.343	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	0	NM_015208		18:9275594
MRPS36	92259	broad.mit.edu	37	5	68524181	68524181	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:68524181A>T	ENST00000256441.4	+	3	331	c.261A>T	c.(259-261)aaA>aaT	p.K87N	MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000512880.1_Missense_Mutation_p.K22N|MRPS36_ENST00000602380.1_Missense_Mutation_p.K22N	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	87					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		ACAGAAGGAAACTTGTGTCTC	0.373																																						ENST00000256441.4		NA																	0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7						c.(259-261)aaA>aaT		mitochondrial ribosomal protein S36							160.0	172.0	168.0					5																	68524181		2203	4300	6503	SO:0001583	missense	92259				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr5:68524181A>T		CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"""Mitochondrial ribosomal proteins / small subunits"""	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.261A>T	5.37:g.68524181A>T	ENSP00000256441:p.Lys87Asn	True	False		Somatic	0				MRPS36_ENST00000512880.1_Missense_Mutation_p.K22N|MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000602380.1_Missense_Mutation_p.K22N	p.K87N	NM_033281.5	NP_150597.1	WXS	Illumina HiSeq	Phase_I	P82909	RT36_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)	3	331	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	87					Q9H2H4	Missense_Mutation	SNP	ENST00000256441.4	37	c.261A>T	CCDS34174.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.910653	0.52439	.	.	ENSG00000134056	ENST00000256441;ENST00000512880	.	.	.	5.76	4.59	0.56863	.	0.054165	0.64402	D	0.000001	T	0.64994	0.2649	L	0.39898	1.24	0.44136	D	0.99692	D	0.76494	0.999	D	0.83275	0.996	T	0.65755	-0.6091	9	0.72032	D	0.01	-20.7389	8.3323	0.32193	0.8452:0.0:0.1548:0.0	.	87	P82909	RT36_HUMAN	N	87;22	.	ENSP00000256441:K87N	K	+	3	2	MRPS36	68559937	0.989000	0.36119	0.991000	0.47740	0.993000	0.82548	2.537000	0.45702	1.005000	0.39183	0.377000	0.23210	AAA		0.373	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1	0	NM_033281		5:68524181
PLEKHH2	130271	broad.mit.edu	37	2	43924402	43924402	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:43924402C>A	ENST00000282406.4	+	7	705	c.595C>A	c.(595-597)Cga>Aga	p.R199R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	199					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTTTTATCTCGAGCAAGGAG	0.428																																						ENST00000282406.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(595-597)Cga>Aga		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							118.0	118.0	118.0					2																	43924402		2203	4300	6503	SO:0001819	synonymous_variant	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43924402C>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.595C>A	2.37:g.43924402C>A		False	False		Somatic	0					p.R199R	NM_172069.3	NP_742066.2	WXS	Illumina HiSeq	Phase_I	Q8IVE3	PKHH2_HUMAN			7	705	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	199					Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.595C>A	CCDS1812.1																																																																																				0.428	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	0	NM_172069		2:43924402
AFF1	4299	broad.mit.edu	37	4	87968161	87968161	+	Silent	SNP	C	C	T	rs549441433		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:87968161C>T	ENST00000307808.6	+	3	873	c.453C>T	c.(451-453)tgC>tgT	p.C151C	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.C158C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	151					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCAAAAGCTGCGGCCCACCGG	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18611	0.0		0.0	False		,,,				2504	0.0					ENST00000307808.6		NA																	0				breast(1)|large_intestine(2)	3						c.(451-453)tgC>tgT		AF4/FMR2 family, member 1							79.0	78.0	78.0					4																	87968161		2203	4300	6503	SO:0001819	synonymous_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87968161C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.453C>T	4.37:g.87968161C>T		False	False		Somatic	0				AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.C158C	p.C151C	NM_005935.2	NP_005926.1	WXS	Illumina HiSeq	Phase_I	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	873	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	151					B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	c.453C>T	CCDS3616.1																																																																																				0.567	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	0	NM_005935		4:87968161
CTNNAL1	8727	broad.mit.edu	37	9	111761453	111761453	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:111761453G>T	ENST00000325551.4	-	2	311	c.225C>A	c.(223-225)gtC>gtA	p.V75V	CTNNAL1_ENST00000374595.4_Silent_p.V75V|CTNNAL1_ENST00000325580.6_Silent_p.V75V|CTNNAL1_ENST00000374593.4_Silent_p.V75V	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	75					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CTGCCAAGTTGACAGCTTGTC	0.328																																						ENST00000374595.4		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(223-225)gtC>gtA		catenin (cadherin-associated protein), alpha-like 1							176.0	180.0	179.0					9																	111761453		2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111761453G>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.225C>A	9.37:g.111761453G>T		False	False		Somatic	0				CTNNAL1_ENST00000325580.6_Silent_p.V75V|CTNNAL1_ENST00000374593.4_Silent_p.V75V|CTNNAL1_ENST00000325551.4_Silent_p.V75V	p.V75V			WXS	Illumina HiSeq	Phase_I	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	2	304	-			75					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.225C>A	CCDS6775.1																																																																																				0.328	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	0	NM_003798		9:111761453
MLNR	2862	broad.mit.edu	37	13	49796387	49796387	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:49796387C>A	ENST00000218721.1	+	2	1113	c.1113C>A	c.(1111-1113)ctC>ctA	p.L371L	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	371					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AACTGCTGCTCGCAAGGAAGT	0.547																																						ENST00000218721.1		NA																	0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14						c.(1111-1113)ctC>ctA		motilin receptor							81.0	81.0	81.0					13																	49796387		2203	4300	6503	SO:0001819	synonymous_variant	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49796387C>A	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1113C>A	13.37:g.49796387C>A		False	False		Somatic	0				MLNR_ENST00000398307.1_3'UTR	p.L371L	NM_001507.1	NP_001498.1	WXS	Illumina HiSeq	Phase_I	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	2	1113	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	371						Silent	SNP	ENST00000218721.1	37	c.1113C>A	CCDS9414.1																																																																																				0.547	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	0	NM_001507		13:49796387
LEPR	3953	broad.mit.edu	37	1	66085628	66085628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:66085628G>T	ENST00000349533.6	+	17	2598	c.2413G>T	c.(2413-2415)Gag>Tag	p.E805*	LEPR_ENST00000371058.1_Nonsense_Mutation_p.E805*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E805*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Nonsense_Mutation_p.E805*	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCCCCATTGAGAAGTACCA	0.279																																						ENST00000349533.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2413-2415)Gag>Tag		leptin receptor							74.0	74.0	74.0					1																	66085628		2203	4296	6499	SO:0001587	stop_gained	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66085628G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2413G>T	1.37:g.66085628G>T	ENSP00000330393:p.Glu805*	False	False		Somatic	0				LEPR_ENST00000371058.1_Nonsense_Mutation_p.E805*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E805*	p.E805*	NM_002303.5	NP_002294.2	WXS	Illumina HiSeq	Phase_I	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	17	2598	+			805			Fibronectin type-III 4.		Q6FHL5	Nonsense_Mutation	SNP	ENST00000349533.6	37	c.2413G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	44	10.974545	0.99497	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-18.6903	19.9253	0.97100	0.0:0.0:1.0:0.0	.	.	.	.	X	805	.	ENSP00000340884:E805X	E	+	1	0	LEPR	65858216	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.292000	0.65673	2.692000	0.91855	0.650000	0.86243	GAG		0.279	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	0	NM_002303		1:66085628
PIP	5304	broad.mit.edu	37	7	142836647	142836647	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142836647G>T	ENST00000291009.3	+	4	393	c.353G>T	c.(352-354)cGg>cTg	p.R118L		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	118					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.R118L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GATGTTATTCGGGAATTAGGC	0.453																																						ENST00000291009.3		NA																	1	Substitution - Missense(1)	p.R118L(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18						c.(352-354)cGg>cTg		prolactin-induced protein							165.0	157.0	159.0					7																	142836647		2203	4299	6502	SO:0001583	missense	5304					extracellular region	actin binding	g.chr7:142836647G>T		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.353G>T	7.37:g.142836647G>T	ENSP00000291009:p.Arg118Leu	True	False		Somatic	0					p.R118L	NM_002652.2	NP_002643.1	WXS	Illumina HiSeq	Phase_I	P12273	PIP_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	4	393	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	118					A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	37	c.353G>T	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	g	15.45	2.837901	0.50951	.	.	ENSG00000159763	ENST00000291009	T	0.14516	2.5	4.78	-4.48	0.03515	.	1.221410	0.05988	N	0.645521	T	0.13286	0.0322	M	0.65975	2.015	0.09310	N	1	B	0.22983	0.078	B	0.20577	0.03	T	0.34925	-0.9809	10	0.51188	T	0.08	.	3.3187	0.07043	0.5027:0.1128:0.2699:0.1146	.	118	P12273	PIP_HUMAN	L	118	ENSP00000291009:R118L	ENSP00000291009:R118L	R	+	2	0	PIP	142546769	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.459000	0.01000	-1.283000	0.02393	-1.746000	0.00682	CGG		0.453	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	0	NM_002652		7:142836647
GOLGB1	2804	broad.mit.edu	37	3	121410027	121410027	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:121410027G>T	ENST00000340645.5	-	14	8294	c.8169C>A	c.(8167-8169)acC>acA	p.T2723T	GOLGB1_ENST00000393667.3_Silent_p.T2728T	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2723					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TATTTTCTTTGGTGACCATGA	0.403																																						ENST00000393667.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8182-8184)acC>acA		golgin B1							237.0	244.0	242.0					3																	121410027		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410027G>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8169C>A	3.37:g.121410027G>T		True	False		Somatic	0				GOLGB1_ENST00000340645.5_Silent_p.T2723T	p.T2728T	NM_001256486.1	NP_001243415.1	WXS	Illumina HiSeq	Phase_I	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8294	-			2723					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.8184C>A	CCDS3004.1																																																																																				0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	0	NM_004487		3:121410027
USP37	57695	broad.mit.edu	37	2	219411667	219411667	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:219411667G>C	ENST00000258399.3	-	7	989	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	USP37_ENST00000454775.1_Missense_Mutation_p.L193V|USP37_ENST00000415516.1_Missense_Mutation_p.L121V|USP37_ENST00000418019.1_Missense_Mutation_p.L193V|USP37_ENST00000338465.5_Missense_Mutation_p.L193V	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	193					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCTGATCTAAGAGGTGTTGAA	0.398																																						ENST00000258399.3		NA																	0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(577-579)Ctt>Gtt		ubiquitin specific peptidase 37							119.0	118.0	118.0					2																	219411667		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219411667G>C	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.577C>G	2.37:g.219411667G>C	ENSP00000258399:p.Leu193Val	False	False		Somatic	0				USP37_ENST00000338465.5_Missense_Mutation_p.L193V|USP37_ENST00000415516.1_Missense_Mutation_p.L121V|USP37_ENST00000418019.1_Missense_Mutation_p.L193V|USP37_ENST00000454775.1_Missense_Mutation_p.L193V	p.L193V	NM_020935.2	NP_065986	WXS	Illumina HiSeq	Phase_I	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	7	989	-		Renal(207;0.0915)	193					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.577C>G	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	6.869	0.529682	0.13127	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.44881	1.02;1.02;1.02;1.02;0.91	4.83	3.93	0.45458	.	0.503731	0.21796	N	0.068985	T	0.25531	0.0621	N	0.24115	0.695	0.25253	N	0.989657	P;B;B	0.47910	0.902;0.372;0.167	B;B;B	0.40066	0.318;0.053;0.016	T	0.09552	-1.0669	10	0.13853	T	0.58	-13.4553	11.632	0.51181	0.0864:0.0:0.9136:0.0	.	193;121;193	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	V	193;193;121;193;193	ENSP00000258399:L193V;ENSP00000393662:L193V;ENSP00000400902:L121V;ENSP00000396585:L193V;ENSP00000345043:L193V	ENSP00000258399:L193V	L	-	1	0	USP37	219119911	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	4.336000	0.59304	2.506000	0.84524	0.563000	0.77884	CTT		0.398	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	0	NM_020935		2:219411667
GABRA2	2555	broad.mit.edu	37	4	46305547	46305547	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:46305547G>T	ENST00000510861.1	-	8	959	c.786C>A	c.(784-786)atC>atA	p.I262I	GABRA2_ENST00000507069.1_Silent_p.I262I|GABRA2_ENST00000540012.1_Silent_p.I207I|GABRA2_ENST00000514090.1_Silent_p.I262I|GABRA2_ENST00000356504.1_Silent_p.I262I|GABRA2_ENST00000515082.1_Silent_p.I262I|GABRA2_ENST00000381620.4_Silent_p.I262I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	262					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGACAGTCATGATGCAAGGCA	0.388																																						ENST00000510861.1		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(784-786)atC>atA		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						137.0	134.0	135.0					4																	46305547		2203	4300	6503	SO:0001819	synonymous_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46305547G>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.786C>A	4.37:g.46305547G>T		False	False		Somatic	0				GABRA2_ENST00000515082.1_Silent_p.I262I|GABRA2_ENST00000540012.1_Silent_p.I207I|GABRA2_ENST00000381620.4_Silent_p.I262I|GABRA2_ENST00000507069.1_Silent_p.I262I|GABRA2_ENST00000514090.1_Silent_p.I262I|GABRA2_ENST00000356504.1_Silent_p.I262I	p.I262I			WXS	Illumina HiSeq	Phase_I	P47869	GBRA2_HUMAN			8	959	-			262					A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	37	c.786C>A	CCDS3471.1																																																																																				0.388	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2	0			4:46305547
ATP11C	286410	broad.mit.edu	37	X	138865392	138865392	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:138865392C>A	ENST00000327569.3	-	17	1808	c.1710G>T	c.(1708-1710)tcG>tcT	p.S570S	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Silent_p.S570S|ATP11C_ENST00000359686.2_Silent_p.S570S|ATP11C_ENST00000370557.1_Silent_p.S567S|ATP11C_ENST00000361648.2_Silent_p.S570S	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	570					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GAAAAACTGCCGAGTCTGCTC	0.383																																						ENST00000370557.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(1699-1701)tcG>tcT		ATPase, class VI, type 11C							176.0	169.0	172.0					X																	138865392		2203	4300	6503	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138865392C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1710G>T	X.37:g.138865392C>A		False	False		Somatic	0				ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Silent_p.S570S|ATP11C_ENST00000327569.3_Silent_p.S570S|ATP11C_ENST00000370543.1_Silent_p.S570S|ATP11C_ENST00000361648.2_Silent_p.S570S	p.S567S			WXS	Illumina HiSeq	Phase_I	Q8NB49	AT11C_HUMAN			17	2728	-	Acute lymphoblastic leukemia(192;0.000127)		570					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.1701G>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	7.823	0.718142	0.15372	.	.	ENSG00000101974	ENST00000422228	.	.	.	5.03	-0.535	0.11879	.	.	.	.	.	T	0.38878	0.1057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	.	0.1686	0.00111	0.3292:0.1618:0.2295:0.2795	.	.	.	.	L	122	.	.	R	-	2	0	ATP11C	138693058	0.034000	0.19679	0.888000	0.34837	0.862000	0.49288	-0.918000	0.04021	-0.124000	0.11724	-1.375000	0.01183	CGG		0.383	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	0	NM_173694		X:138865392
DCAF5	8816	broad.mit.edu	37	14	69522283	69522283	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:69522283C>A	ENST00000341516.5	-	9	1267	c.1120G>T	c.(1120-1122)Ggt>Tgt	p.G374C	DCAF5_ENST00000557386.1_Missense_Mutation_p.G373C|DCAF5_ENST00000554215.1_Missense_Mutation_p.G292C|DCAF5_ENST00000556847.1_Missense_Mutation_p.G292C|DCAF5_ENST00000553293.1_5'UTR	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	374					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCAATCCGACCGTCGAGGTCT	0.493																																						ENST00000341516.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(1120-1122)Ggt>Tgt		DDB1 and CUL4 associated factor 5							165.0	159.0	161.0					14																	69522283		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69522283C>A	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1120G>T	14.37:g.69522283C>A	ENSP00000341351:p.Gly374Cys	False	False		Somatic	0				DCAF5_ENST00000554215.1_Missense_Mutation_p.G292C|DCAF5_ENST00000557386.1_Missense_Mutation_p.G373C|DCAF5_ENST00000556847.1_Missense_Mutation_p.G292C|DCAF5_ENST00000553293.1_5'UTR	p.G374C	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	WXS	Illumina HiSeq	Phase_I	Q96JK2	DCAF5_HUMAN			9	1267	-			374					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.1120G>T	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072490	0.76415	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.70399	-0.48;-0.31;-0.31;0.14	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.76659	0.4018	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.959	T	0.79564	-0.1751	10	0.87932	D	0	-17.6055	20.1218	0.97964	0.0:1.0:0.0:0.0	.	373;374	G3V4J7;Q96JK2	.;DCAF5_HUMAN	C	374;292;292;373	ENSP00000341351:G374C;ENSP00000451551:G292C;ENSP00000452052:G292C;ENSP00000451845:G373C	ENSP00000341351:G374C	G	-	1	0	DCAF5	68592036	1.000000	0.71417	0.956000	0.39512	0.993000	0.82548	7.336000	0.79245	2.763000	0.94921	0.561000	0.74099	GGT		0.493	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	0	NM_003861		14:69522283
KLHL22	84861	broad.mit.edu	37	22	20819390	20819390	+	Silent	SNP	C	C	T	rs370087004		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:20819390C>T	ENST00000328879.4	-	4	1023	c.867G>A	c.(865-867)ccG>ccA	p.P289P	KLHL22_ENST00000440659.2_Silent_p.P146P	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	289					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCTCCGTTTGCGGGCTCTGCA	0.632																																						ENST00000328879.4		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(865-867)ccG>ccA		kelch-like family member 22		C		0,4406		0,0,2203	46.0	46.0	46.0		867	-10.8	0.0	22		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL22	NM_032775.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		289/635	20819390	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819390C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.867G>A	22.37:g.20819390C>T		True	False		Somatic	0				KLHL22_ENST00000440659.2_Silent_p.P146P	p.P289P	NM_032775.3	NP_116164.2	WXS	Illumina HiSeq	Phase_I	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	1023	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	289					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	ENST00000328879.4	37	c.867G>A	CCDS13780.1																																																																																				0.632	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	0	NM_032775		22:20819390
BNC1	646	broad.mit.edu	37	15	83926420	83926420	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:83926420G>A	ENST00000345382.2	-	5	2844	c.2759C>T	c.(2758-2760)gCt>gTt	p.A920V	BNC1_ENST00000569704.1_Missense_Mutation_p.A913V|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	920					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGGCAGGCTAGCAAGGCTCTG	0.537																																						ENST00000345382.2		NA																	0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(2758-2760)gCt>gTt		basonuclin 1							207.0	200.0	202.0					15																	83926420		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83926420G>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2759C>T	15.37:g.83926420G>A	ENSP00000307041:p.Ala920Val	False	False		Somatic	0				BNC1_ENST00000569704.1_Missense_Mutation_p.A913V|RP11-382A20.4_ENST00000565495.1_RNA	p.A920V	NM_001717.3	NP_001708.3	WXS	Illumina HiSeq	Phase_I	Q01954	BNC1_HUMAN			5	2844	-			920					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.2759C>T	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520519	0.27211	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.44083	0.93	5.93	4.99	0.66335	.	0.467668	0.23420	N	0.048377	T	0.23330	0.0564	N	0.22421	0.69	0.09310	N	0.999994	B;P	0.39282	0.4;0.666	B;B	0.30029	0.11;0.102	T	0.09885	-1.0654	10	0.19147	T	0.46	-21.1832	10.7119	0.45988	0.0757:0.1342:0.7901:0.0	.	913;920	F5GY04;Q01954	.;BNC1_HUMAN	V	920;913	ENSP00000307041:A920V	ENSP00000307041:A920V	A	-	2	0	BNC1	81717424	0.623000	0.27094	0.936000	0.37596	0.710000	0.40934	1.984000	0.40658	1.454000	0.47793	0.557000	0.71058	GCT		0.537	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	0	NM_001717		15:83926420
TRIM60	166655	broad.mit.edu	37	4	165962020	165962020	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:165962020G>T	ENST00000512596.1	+	3	1012	c.796G>T	c.(796-798)Gaa>Taa	p.E266*	TRIM60_ENST00000508504.1_Nonsense_Mutation_p.E266*|TRIM60_ENST00000341062.5_Nonsense_Mutation_p.E266*	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	266						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AAAATGCCCTGAACTCTTTTC	0.393																																						ENST00000512596.1		NA																	0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(796-798)Gaa>Taa		tripartite motif containing 60							58.0	61.0	60.0					4																	165962020		2203	4300	6503	SO:0001587	stop_gained	166655					intracellular	zinc ion binding	g.chr4:165962020G>T	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.796G>T	4.37:g.165962020G>T	ENSP00000421142:p.Glu266*	False	False		Somatic	0				TRIM60_ENST00000508504.1_Nonsense_Mutation_p.E266*|TRIM60_ENST00000341062.5_Nonsense_Mutation_p.E266*	p.E266*	NM_152620.2	NP_689833.1	WXS	Illumina HiSeq	Phase_I	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1012	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	266					Q8NA35	Nonsense_Mutation	SNP	ENST00000512596.1	37	c.796G>T	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423185	0.62733	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	.	.	.	2.49	1.61	0.23674	.	0.644053	0.12051	U	0.504131	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	4.5572	0.12141	0.1969:0.0:0.8031:0.0	.	.	.	.	X	266	.	ENSP00000343765:E266X	E	+	1	0	TRIM60	166181470	0.000000	0.05858	0.039000	0.18376	0.341000	0.28922	0.596000	0.24044	0.572000	0.29383	0.655000	0.94253	GAA		0.393	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	0	NM_152620		4:165962020
RPS25	6230	broad.mit.edu	37	11	118888751	118888751	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:118888751C>A	ENST00000527673.1	-	2	421	c.16G>T	c.(16-18)Gac>Tac	p.D6Y	TRAPPC4_ENST00000528230.1_5'Flank|TRAPPC4_ENST00000434101.2_5'Flank|TRAPPC4_ENST00000525303.1_5'Flank|TRAPPC4_ENST00000533632.1_5'Flank|TRAPPC4_ENST00000359005.4_5'Flank|MIR3656_ENST00000577421.1_RNA|RPS25_ENST00000528547.1_5'UTR|TRAPPC4_ENST00000533058.1_5'Flank	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	6					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TTCTTCTTGTCGTCCTTAGGC	0.542																																						ENST00000527673.1		NA																	0				endometrium(1)	1						c.(16-18)Gac>Tac		ribosomal protein S25							112.0	114.0	113.0					11																	118888751		2200	4295	6495	SO:0001583	missense	6230				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding	g.chr11:118888751C>A	M64716	CCDS8406.1	11q23.3	2011-04-06			ENSG00000118181	ENSG00000118181		"""S ribosomal proteins"""	10413	protein-coding gene	gene with protein product		180465				1748303	Standard	NM_001028		Approved	S25	uc001pun.2	P62851	OTTHUMG00000166350	ENST00000527673.1:c.16G>T	11.37:g.118888751C>A	ENSP00000435096:p.Asp6Tyr	False	False		Somatic	0				RPS25_ENST00000528547.1_5'UTR	p.D6Y	NM_001028.2	NP_001019.1	WXS	Illumina HiSeq	Phase_I	P62851	RS25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	2	421	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	6					B2R4M7|P25111	Missense_Mutation	SNP	ENST00000527673.1	37	c.16G>T	CCDS8406.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467841	0.43839	.	.	ENSG00000118181	ENST00000527673	.	.	.	5.5	5.5	0.81552	.	0.100672	0.64402	D	0.000002	T	0.73171	0.3553	M	0.85462	2.755	0.80722	D	1	B	0.31730	0.337	B	0.31495	0.131	T	0.75977	-0.3127	9	0.66056	D	0.02	-9.1481	19.3992	0.94621	0.0:1.0:0.0:0.0	.	6	P62851	RS25_HUMAN	Y	6	.	ENSP00000435096:D6Y	D	-	1	0	RPS25	118393961	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.484000	0.60271	2.593000	0.87608	0.655000	0.94253	GAC		0.542	RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389324.1	0	NM_001028		11:118888751
STX2	2054	broad.mit.edu	37	12	131297517	131297517	+	Silent	SNP	G	G	T	rs146831527		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:131297517G>T	ENST00000392373.2	-	4	359	c.265C>A	c.(265-267)Cga>Aga	p.R89R	RP11-989F5.3_ENST00000542821.1_lincRNA|STX2_ENST00000261653.6_Silent_p.R89R|RP11-989F5.1_ENST00000546264.1_lincRNA|snoU13_ENST00000459050.1_RNA	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	89				R -> A (in Ref. 1; BAA03436). {ECO:0000305}.	acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		AACTTGGCTCGAATTTTATTC	0.249																																						ENST00000261653.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16						c.(265-267)Cga>Aga		syntaxin 2							91.0	96.0	94.0					12																	131297517		2202	4296	6498	SO:0001819	synonymous_variant	2054				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	g.chr12:131297517G>T	D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.265C>A	12.37:g.131297517G>T		False	False		Somatic	0				STX2_ENST00000392373.2_Silent_p.R89R	p.R89R	NM_001980.3	NP_001971.2	WXS	Illumina HiSeq	Phase_I	P32856	STX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)	4	431	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		89	R -> A (in Ref. 1; BAA03436).				Q86VW8	Silent	SNP	ENST00000392373.2	37	c.265C>A	CCDS9270.1																																																																																				0.249	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2	0	NM_194356		12:131297517
PTPN22	26191	broad.mit.edu	37	1	114380531	114380531	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:114380531C>A	ENST00000359785.5	-	13	1626	c.1491G>T	c.(1489-1491)ctG>ctT	p.L497L	PTPN22_ENST00000525799.1_Silent_p.L370L|PTPN22_ENST00000538253.1_Silent_p.L253L|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Silent_p.L497L|PTPN22_ENST00000528414.1_Silent_p.L442L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	497					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGAATAATTCAGTTCTGCTG	0.363																																						ENST00000359785.5		NA																	0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1489-1491)ctG>ctT		protein tyrosine phosphatase, non-receptor type 22 (lymphoid)							123.0	118.0	120.0					1																	114380531		2203	4300	6503	SO:0001819	synonymous_variant	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114380531C>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1491G>T	1.37:g.114380531C>A		False	False		Somatic	0				PTPN22_ENST00000525799.1_Silent_p.L370L|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Silent_p.L442L|PTPN22_ENST00000420377.2_Silent_p.L497L|PTPN22_ENST00000538253.1_Silent_p.L253L	p.L497L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	WXS	Illumina HiSeq	Phase_I	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	1626	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	497					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Silent	SNP	ENST00000359785.5	37	c.1491G>T	CCDS863.1																																																																																				0.363	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	0	NM_015967		1:114380531
MDH1B	130752	broad.mit.edu	37	2	207622074	207622074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:207622074C>A	ENST00000374412.3	-	3	432	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	MDH1B_ENST00000454776.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000392214.2_Nonsense_Mutation_p.E53*	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	53					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTATTCTTTTCACACACATCT	0.373																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3		NA																	0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(157-159)Gaa>Taa		malate dehydrogenase 1B, NAD (soluble)							118.0	115.0	116.0					2																	207622074		2203	4300	6503	SO:0001587	stop_gained	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207622074C>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.157G>T	2.37:g.207622074C>A	ENSP00000363533:p.Glu53*	True	False		Somatic	0				MDH1B_ENST00000392214.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000454776.2_Nonsense_Mutation_p.E53*	p.E53*	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	WXS	Illumina HiSeq	Phase_I	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	3	432	-			53					A8K8M1|Q53TK9|Q8IV51	Nonsense_Mutation	SNP	ENST00000374412.3	37	c.157G>T	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	7.721	0.697252	0.15106	.	.	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	.	.	.	5.84	-1.43	0.08884	.	0.678176	0.16290	N	0.220957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-13.4765	6.6365	0.22885	0.113:0.437:0.0:0.4499	.	.	.	.	X	53	.	ENSP00000363533:E53X	E	-	1	0	MDH1B	207330319	0.957000	0.32711	0.889000	0.34880	0.015000	0.08874	0.114000	0.15520	0.073000	0.16731	-0.768000	0.03414	GAA		0.373	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	0	NM_001039845		2:207622074
RTN2	6253	broad.mit.edu	37	19	45997638	45997638	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:45997638G>A	ENST00000245923.4	-	4	835	c.600C>T	c.(598-600)ccC>ccT	p.P200P	RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000344680.4_Silent_p.P200P|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	200					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCAAGACCTCGGGCGATGAGG	0.617																																						ENST00000245923.4		NA																	0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(598-600)ccC>ccT		reticulon 2							56.0	50.0	52.0					19																	45997638		2203	4300	6503	SO:0001819	synonymous_variant	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45997638G>A	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.600C>T	19.37:g.45997638G>A		True	False		Somatic	0				RTN2_ENST00000344680.4_Silent_p.P200P|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000590526.1_5'UTR	p.P200P	NM_005619.4	NP_005610.1	WXS	Illumina HiSeq	Phase_I	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	4	835	-		Ovarian(192;0.051)|all_neural(266;0.112)	200					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	37	c.600C>T	CCDS12665.1																																																																																				0.617	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	0	NM_005619		19:45997638
EXOC1	55763	broad.mit.edu	37	4	56744167	56744167	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:56744167C>A	ENST00000381295.2	+	9	1507	c.1159C>A	c.(1159-1161)Cga>Aga	p.R387R	EXOC1_ENST00000349598.6_Silent_p.R387R|EXOC1_ENST00000346134.7_Silent_p.R387R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	387					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGATTTGCTCCGATATGCCAA	0.393																																						ENST00000381295.2		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1159-1161)Cga>Aga		exocyst complex component 1							145.0	131.0	135.0					4																	56744167		2203	4300	6503	SO:0001819	synonymous_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56744167C>A	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1159C>A	4.37:g.56744167C>A		False	False		Somatic	0				EXOC1_ENST00000346134.7_Silent_p.R387R|EXOC1_ENST00000349598.6_Silent_p.R387R	p.R387R	NM_001024924.1	NP_001020095.1	WXS	Illumina HiSeq	Phase_I	Q9NV70	EXOC1_HUMAN			9	1507	+	Glioma(25;0.08)|all_neural(26;0.101)		387					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	37	c.1159C>A	CCDS3502.1																																																																																				0.393	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	0	NM_018261		4:56744167
MSN	4478	broad.mit.edu	37	X	64949377	64949377	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:64949377C>A	ENST00000360270.5	+	4	442	c.270C>A	c.(268-270)tcC>tcA	p.S90S		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	90	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.S90S(2)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AGGATGTGTCCGAGGAATTGA	0.517			T	ALK	ALCL																																	ENST00000360270.5		NA		Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	2	Substitution - coding silent(2)	p.S90S(2)	lung(1)|kidney(1)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						c.(268-270)tcC>tcA		moesin							118.0	96.0	103.0					X																	64949377		2203	4300	6503	SO:0001819	synonymous_variant	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64949377C>A	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.270C>A	X.37:g.64949377C>A		False	False		Somatic	0					p.S90S	NM_002444.2	NP_002435.1	WXS	Illumina HiSeq	Phase_I	P26038	MOES_HUMAN			4	442	+			90			FERM.			Silent	SNP	ENST00000360270.5	37	c.270C>A	CCDS14382.1																																																																																				0.517	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	0	NM_002444		X:64949377
ZNF407	55628	broad.mit.edu	37	18	72347035	72347035	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:72347035G>T	ENST00000299687.5	+	1	4060	c.4060G>T	c.(4060-4062)Ggt>Tgt	p.G1354C	ZNF407_ENST00000582337.1_Missense_Mutation_p.G1354C|ZNF407_ENST00000309902.6_Missense_Mutation_p.G1354C|ZNF407_ENST00000577538.1_Missense_Mutation_p.G1354C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GTACAGTTTTGGTCGATTTGA	0.423																																						ENST00000299687.5		NA																	0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(4060-4062)Ggt>Tgt		zinc finger protein 407							104.0	107.0	106.0					18																	72347035		1883	4119	6002	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72347035G>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4060G>T	18.37:g.72347035G>T	ENSP00000299687:p.Gly1354Cys	True	False		Somatic	0				ZNF407_ENST00000309902.6_Missense_Mutation_p.G1354C|ZNF407_ENST00000577538.1_Missense_Mutation_p.G1354C|ZNF407_ENST00000582337.1_Missense_Mutation_p.G1354C	p.G1354C	NM_017757.2	NP_060227.2	WXS	Illumina HiSeq	Phase_I	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	4060	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1354					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.4060G>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987151	0.53934	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.13196	2.61;3.04	5.84	4.06	0.47325	.	0.195350	0.36519	N	0.002550	T	0.20007	0.0481	N	0.19112	0.55	0.32517	N	0.536824	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.993;0.985	T	0.03060	-1.1077	10	0.59425	D	0.04	.	9.7588	0.40519	0.2094:0.0:0.7906:0.0	.	1354;1354;1354	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	C	1354	ENSP00000299687:G1354C;ENSP00000310359:G1354C	ENSP00000299687:G1354C	G	+	1	0	ZNF407	70476023	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	1.301000	0.33447	2.754000	0.94517	0.655000	0.94253	GGT		0.423	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	0	NM_017757		18:72347035
OR5T1	390155	broad.mit.edu	37	11	56043180	56043180	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56043180C>A	ENST00000313033.2	+	1	152	c.66C>A	c.(64-66)acC>acA	p.T22T		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	22						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(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTGAAGTCACCATGTTTATAT	0.299																																						ENST00000313033.2		NA																	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(64-66)acC>acA		olfactory receptor, family 5, subfamily T, member 1							93.0	103.0	100.0					11																	56043180		2201	4294	6495	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043180C>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.66C>A	11.37:g.56043180C>A		False	False		Somatic	0					p.T22T	NM_001004745.1	NP_001004745.1	WXS	Illumina HiSeq	Phase_I	Q8NG75	OR5T1_HUMAN			1	152	+	Esophageal squamous(21;0.00448)		22					B2RNM9	Silent	SNP	ENST00000313033.2	37	c.66C>A	CCDS31525.1																																																																																				0.299	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	0	NM_001004745		11:56043180
FAM120A	23196	broad.mit.edu	37	9	96261114	96261114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:96261114G>T	ENST00000277165.6	+	5	1170	c.976G>T	c.(976-978)Gga>Tga	p.G326*	FAM120A_ENST00000333936.5_Nonsense_Mutation_p.G326*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.G326*|FAM120A_ENST00000375389.3_Nonsense_Mutation_p.G326*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	326						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGAGCAATTGGATATTATTC	0.353																																						ENST00000277165.6		NA																	0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(976-978)Gga>Tga		family with sequence similarity 120A							167.0	171.0	170.0					9																	96261114		2203	4300	6503	SO:0001587	stop_gained	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96261114G>T	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.976G>T	9.37:g.96261114G>T	ENSP00000277165:p.Gly326*	False	False		Somatic	0				FAM120A_ENST00000375389.3_Nonsense_Mutation_p.G326*|FAM120A_ENST00000333936.5_Nonsense_Mutation_p.G326*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.G326*	p.G326*	NM_014612.3	NP_055427.2	WXS	Illumina HiSeq	Phase_I	Q9NZB2	F120A_HUMAN			5	1170	+			326					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Nonsense_Mutation	SNP	ENST00000277165.6	37	c.976G>T	CCDS6706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.475131|6.475131	0.97598|0.97598	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893|ENST00000446420	.|.	.|.	.|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.167044|.	0.40385|.	N|.	0.001105|.	.|T	.|0.74650	.|0.3744	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73424	.|-0.3987	.|3	0.31617|.	T|.	0.26|.	-7.6021|-7.6021	18.6403|18.6403	0.91393|0.91393	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	326|168	.|.	ENSP00000277165:G326X|.	G|L	+|+	1|3	0|2	FAM120A|FAM120A	95300935|95300935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.183000|7.183000	0.77697|0.77697	2.631000|2.631000	0.89168|0.89168	0.650000|0.650000	0.86243|0.86243	GGA|TTG		0.353	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	0	NM_014612		9:96261114
ZFHX4	79776	broad.mit.edu	37	8	77766289	77766289	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:77766289G>T	ENST00000521891.2	+	10	7580	c.7132G>T	c.(7132-7134)Gcc>Tcc	p.A2378S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2352S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2333S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2333S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2333	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAACGCTGCTGCCCCTGCAGC	0.512										HNSCC(33;0.089)																												ENST00000521891.2		NA																	0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7132-7134)Gcc>Tcc		zinc finger homeobox 4							95.0	95.0	95.0					8																	77766289		1996	4157	6153	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766289G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7132G>T	8.37:g.77766289G>T	ENSP00000430497:p.Ala2378Ser	True	False	HNSCC(33;0.089)	Somatic	0				ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2333S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2333S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2352S	p.A2378S	NM_024721.4	NP_078997.4	WXS	Illumina HiSeq	Phase_I	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7580	+			2333			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7132G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535947	0.27475	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.81;0.77;0.77	4.8	3.91	0.45181	.	0.861471	0.09598	U	0.780516	T	0.34483	0.0899	N	0.22421	0.69	0.21105	N	0.99978	B;B;B	0.15473	0.008;0.013;0.013	B;B;B	0.18561	0.01;0.022;0.022	T	0.14839	-1.0458	10	0.10636	T	0.68	.	13.5636	0.61804	0.0765:0.0:0.9235:0.0	.	2333;2333;2378	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	2378;2362;2333;2333;2352	ENSP00000430497:A2378S;ENSP00000399605:A2333S;ENSP00000050961:A2333S;ENSP00000430848:A2352S	ENSP00000050961:A2333S	A	+	1	0	ZFHX4	77928844	0.860000	0.29831	0.005000	0.12908	0.896000	0.52359	4.707000	0.61852	1.210000	0.43336	0.650000	0.86243	GCC		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	0	NM_024721		8:77766289
RSL1D1	26156	broad.mit.edu	37	16	11933615	11933615	+	Silent	SNP	G	G	T	rs144452977		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:11933615G>T	ENST00000571133.1	-	8	1155	c.1083C>A	c.(1081-1083)tcC>tcA	p.S361S	RSL1D1_ENST00000542106.1_Silent_p.S141S	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	361					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTCGTCTTCGGATTCATTTG	0.398																																						ENST00000571133.1		NA																	0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.(1081-1083)tcC>tcA		ribosomal L1 domain containing 1							306.0	266.0	279.0					16																	11933615		2197	4300	6497	SO:0001819	synonymous_variant	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11933615G>T	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.1083C>A	16.37:g.11933615G>T		False	False		Somatic	0				RSL1D1_ENST00000542106.1_Silent_p.S141S	p.S361S	NM_015659.2	NP_056474.2	WXS	Illumina HiSeq	Phase_I	O76021	RL1D1_HUMAN			8	1155	-			361					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Silent	SNP	ENST00000571133.1	37	c.1083C>A	CCDS10551.1																																																																																				0.398	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	0	NM_015659		16:11933615
FBN2	2201	broad.mit.edu	37	5	127730895	127730895	+	Missense_Mutation	SNP	G	G	A	rs371826887		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:127730895G>A	ENST00000508053.1	-	15	2125	c.1151C>T	c.(1150-1152)aCg>aTg	p.T384M	FBN2_ENST00000508989.1_Missense_Mutation_p.T351M|FBN2_ENST00000262464.4_Missense_Mutation_p.T384M			P35556	FBN2_HUMAN	fibrillin 2	384	TB 2.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGCATTTTCGTCATTCTCCC	0.542																																						ENST00000508053.1		NA																	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(1150-1152)aCg>aTg		fibrillin 2		G	MET/THR	0,4406		0,0,2203	87.0	80.0	82.0		1151	4.4	1.0	5		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN2	NM_001999.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	384/2913	127730895	1,13005	2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127730895G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1151C>T	5.37:g.127730895G>A	ENSP00000424571:p.Thr384Met	False	False		Somatic	0				FBN2_ENST00000508989.1_Missense_Mutation_p.T351M|FBN2_ENST00000262464.4_Missense_Mutation_p.T384M	p.T384M			WXS	Illumina HiSeq	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	15	2125	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	384			TB 2.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1151C>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892566	0.52121	0.0	1.16E-4	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.95412	-3.7;-3.7;-3.7	4.44	4.44	0.53790	Matrix fibril-associated (3);TGF-beta binding (1);	0.176842	0.36303	N	0.002669	D	0.97586	0.9209	M	0.86502	2.82	0.42420	D	0.992637	D;D	0.71674	0.998;0.984	P;P	0.60345	0.873;0.739	D	0.98218	1.0476	10	0.66056	D	0.02	.	18.389	0.90475	0.0:0.0:1.0:0.0	.	351;384	D6RJI3;P35556	.;FBN2_HUMAN	M	384;384;351	ENSP00000262464:T384M;ENSP00000424571:T384M;ENSP00000425596:T351M	ENSP00000262464:T384M	T	-	2	0	FBN2	127758794	1.000000	0.71417	0.959000	0.39883	0.816000	0.46133	5.699000	0.68310	2.750000	0.94351	0.655000	0.94253	ACG		0.542	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	0	NM_001999		5:127730895
ATRX	546	broad.mit.edu	37	X	76939312	76939312	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:76939312G>T	ENST00000373344.5	-	9	1650	c.1436C>A	c.(1435-1437)cCa>cAa	p.P479Q	ATRX_ENST00000395603.3_Missense_Mutation_p.P441Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	479					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCCTCTGTTGGAACATTCTG	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5		NA		Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1435-1437)cCa>cAa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						193.0	196.0	195.0					X																	76939312		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939312G>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1436C>A	X.37:g.76939312G>T	ENSP00000362441:p.Pro479Gln	False	False		Somatic	0				ATRX_ENST00000395603.3_Missense_Mutation_p.P441Q|ATRX_ENST00000480283.1_5'UTR	p.P479Q	NM_000489.3	NP_000480.3	WXS	Illumina HiSeq	Phase_I	P46100	ATRX_HUMAN			9	1650	-			479					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.1436C>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	3.654	-0.071015	0.07228	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91843	-2.92;-2.92	4.81	3.94	0.45596	.	1.154860	0.06338	U	0.707442	D	0.91637	0.7357	L	0.44542	1.39	0.80722	D	1	P;P;B;B	0.45212	0.612;0.853;0.429;0.303	B;P;B;B	0.47528	0.278;0.549;0.186;0.091	T	0.81050	-0.1108	10	0.33141	T	0.24	1.7015	12.5503	0.56223	0.0841:0.0:0.9159:0.0	.	479;440;441;479	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	Q	479;441;435	ENSP00000362441:P479Q;ENSP00000378967:P441Q	ENSP00000362441:P479Q	P	-	2	0	ATRX	76825968	0.362000	0.24980	0.054000	0.19295	0.875000	0.50365	1.948000	0.40303	0.822000	0.34565	0.509000	0.49947	CCA		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	0	NM_000489		X:76939312
OR9A4	130075	broad.mit.edu	37	7	141618684	141618684	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:141618684G>T	ENST00000548136.1	+	1	68	c.9G>T	c.(7-9)atG>atT	p.M3I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AAATGTTGATGAATTACTCTA	0.373																																						ENST00000548136.1		NA																	0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(7-9)atG>atT		olfactory receptor, family 9, subfamily A, member 4							180.0	180.0	180.0					7																	141618684		2013	4190	6203	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618684G>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.9G>T	7.37:g.141618684G>T	ENSP00000448789:p.Met3Ile	False	False		Somatic	0				MGAM_ENST00000497554.1_Intron	p.M3I	NM_001001656.1	NP_001001656.1	WXS	Illumina HiSeq	Phase_I	Q8NGU2	OR9A4_HUMAN			1	68	+	Melanoma(164;0.0171)		3					B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.9G>T	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	6.763	0.509673	0.12883	.	.	ENSG00000258083	ENST00000548136	T	0.17213	2.29	3.33	-1.9	0.07665	.	.	.	.	.	T	0.07413	0.0187	N	0.10733	0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32134	-0.9918	9	0.72032	D	0.01	0.4043	4.3789	0.11284	0.4061:0.3203:0.2735:0.0	.	3	Q8NGU2	OR9A4_HUMAN	I	3	ENSP00000448789:M3I	ENSP00000386148:M3I	M	+	3	0	OR9A4	141265153	0.000000	0.05858	0.002000	0.10522	0.749000	0.42624	-0.453000	0.06778	-0.460000	0.07003	0.637000	0.83480	ATG		0.373	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	0	NM_001001656		7:141618684
POU2F3	25833	broad.mit.edu	37	11	120117199	120117199	+	Missense_Mutation	SNP	C	C	A	rs150644971		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:120117199C>A	ENST00000543440.2	+	2	220	c.70C>A	c.(70-72)Cgc>Agc	p.R24S	POU2F3_ENST00000260264.4_Missense_Mutation_p.R26S	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	24					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.R24C(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CACGGATGCTCGCAGCACTCT	0.488																																						ENST00000260264.4		NA																	1	Substitution - Missense(1)	p.R24C(1)	skin(1)	large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(76-78)Cgc>Agc		POU class 2 homeobox 3							113.0	107.0	109.0					11																	120117199		2203	4300	6503	SO:0001583	missense	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120117199C>A	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.70C>A	11.37:g.120117199C>A	ENSP00000441687:p.Arg24Ser	False	False		Somatic	0				POU2F3_ENST00000543440.2_Missense_Mutation_p.R24S	p.R26S	NM_001244682.1	NP_001231611.1	WXS	Illumina HiSeq	Phase_I	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	2	110	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	24					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	c.76C>A	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174274	0.38413	.	.	ENSG00000137709	ENST00000543440;ENST00000260264	D;D	0.83673	-1.73;-1.75	5.22	5.22	0.72569	.	.	.	.	.	T	0.75803	0.3899	N	0.22421	0.69	0.09310	N	0.999999	B	0.26602	0.154	B	0.26202	0.067	T	0.66484	-0.5912	9	0.42905	T	0.14	.	16.9624	0.86275	0.0:1.0:0.0:0.0	.	24	Q9UKI9	PO2F3_HUMAN	S	26;24	ENSP00000441687:R26S;ENSP00000260264:R24S	ENSP00000260264:R24S	R	+	1	0	POU2F3	119622409	0.033000	0.19621	0.009000	0.14445	0.556000	0.35491	3.271000	0.51608	2.443000	0.82685	0.563000	0.77884	CGC		0.488	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2	0			11:120117199
ZNF221	7638	broad.mit.edu	37	19	44469186	44469186	+	Silent	SNP	C	C	A	rs550036064		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:44469186C>A	ENST00000251269.5	+	4	494	c.166C>A	c.(166-168)Cga>Aga	p.R56R	ZNF221_ENST00000592350.1_Silent_p.R56R|ZNF221_ENST00000587682.1_Silent_p.R56R	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GAAGCTGTACCGAGATGTGAT	0.522																																						ENST00000251269.5		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(166-168)Cga>Aga		zinc finger protein 221							226.0	219.0	221.0					19																	44469186		2203	4300	6503	SO:0001819	synonymous_variant	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44469186C>A	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.166C>A	19.37:g.44469186C>A		False	False		Somatic	0				ZNF221_ENST00000587682.1_Silent_p.R56R|ZNF221_ENST00000592350.1_Silent_p.R56R	p.R56R	NM_013359.2	NP_037491	WXS	Illumina HiSeq	Phase_I	Q9UK13	ZN221_HUMAN			4	494	+		Prostate(69;0.0352)	56			KRAB.		B2RAI6|Q2M2H2|Q9P1U8	Silent	SNP	ENST00000251269.5	37	c.166C>A	CCDS12633.1																																																																																				0.522	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1	0			19:44469186
MFSD1	64747	broad.mit.edu	37	3	158523162	158523162	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:158523162G>T	ENST00000264266.8	+	3	290	c.228G>T	c.(226-228)gtG>gtT	p.V76V	MFSD1_ENST00000415822.2_Silent_p.V125V|MFSD1_ENST00000392813.4_Intron			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	76					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATATGCAAGTGAATACCACGA	0.328																																					Pancreas(62;1186 1654 36636 37908)	ENST00000415822.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26						c.(373-375)gtG>gtT		major facilitator superfamily domain containing 1							206.0	190.0	196.0					3																	158523162		2203	4300	6503	SO:0001819	synonymous_variant	64747				transmembrane transport	integral to membrane		g.chr3:158523162G>T	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.228G>T	3.37:g.158523162G>T		False	False		Somatic	0				MFSD1_ENST00000392813.4_Intron|MFSD1_ENST00000264266.8_Silent_p.V76V	p.V125V	NM_022736.2	NP_073573.2	WXS	Illumina HiSeq	Phase_I	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	516	+			76					B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Silent	SNP	ENST00000264266.8	37	c.375G>T																																																																																					0.328	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	0	NM_022736		3:158523162
TET1	80312	broad.mit.edu	37	10	70450608	70450608	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:70450608C>A	ENST00000373644.4	+	12	5657	c.5448C>A	c.(5446-5448)acC>acA	p.T1816T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1816					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAGTGAAACCGAACCCCATT	0.428																																						ENST00000373644.4		NA																	0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(5446-5448)acC>acA		tet methylcytosine dioxygenase 1							84.0	87.0	86.0					10																	70450608		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70450608C>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5448C>A	10.37:g.70450608C>A		False	False		Somatic	0					p.T1816T	NM_030625.2	NP_085128.2	WXS	Illumina HiSeq	Phase_I	Q8NFU7	TET1_HUMAN			12	5657	+			1816					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.5448C>A	CCDS7281.1																																																																																				0.428	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	0	NM_030625		10:70450608
DDX4	54514	broad.mit.edu	37	5	55109582	55109582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:55109582C>A	ENST00000505374.1	+	19	1789	c.1697C>A	c.(1696-1698)tCa>tAa	p.S566*	DDX4_ENST00000511853.1_Nonsense_Mutation_p.S417*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.S546*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.S532*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.S532*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	566	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GAAAAAATATCAACTACAAGT	0.284																																						ENST00000505374.1		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1696-1698)tCa>tAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							69.0	83.0	78.0					5																	55109582		2201	4295	6496	SO:0001587	stop_gained	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55109582C>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1697C>A	5.37:g.55109582C>A	ENSP00000424838:p.Ser566*	False	False		Somatic	0				DDX4_ENST00000354991.5_Nonsense_Mutation_p.S532*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.S546*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.S532*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.S417*	p.S566*	NM_024415.2	NP_077726.1	WXS	Illumina HiSeq	Phase_I	Q9NQI0	DDX4_HUMAN			19	1789	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	566			Helicase C-terminal.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Nonsense_Mutation	SNP	ENST00000505374.1	37	c.1697C>A	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	38	6.851968	0.97885	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	.	.	.	6.17	6.17	0.99709	.	0.279673	0.36167	N	0.002759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-12.1506	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	532;546;566;532;417	.	ENSP00000334167:S532X	S	+	2	0	DDX4	55145339	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.688000	0.54699	2.941000	0.99782	0.655000	0.94253	TCA		0.284	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	0	NM_024415		5:55109582
UBB	7314	broad.mit.edu	37	17	16285491	16285491	+	Silent	SNP	C	C	T	rs16962973		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:16285491C>T	ENST00000395837.1	+	2	451	c.270C>T	c.(268-270)acC>acT	p.T90T	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000302182.3_Silent_p.T90T|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(268-270)acC>acT		ubiquitin B							75.0	76.0	75.0					17																	16285491		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285491C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.270C>T	17.37:g.16285491C>T		True	False		Somatic	0				UBB_ENST00000395837.1_Silent_p.T90T|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron	p.T90T	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	WXS	Illumina HiSeq	Phase_I	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	662	+			90			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.270C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	0	NM_018955		17:16285491
OR8H1	219469	broad.mit.edu	37	11	56058331	56058331	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56058331C>A	ENST00000313022.2	-	1	235	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TAACTGAGGTCAATAAATGAC	0.413																																						ENST00000313022.2		NA																	0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(208-210)Gac>Tac		olfactory receptor, family 8, subfamily H, member 1							274.0	262.0	266.0					11																	56058331		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058331C>A	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.208G>T	11.37:g.56058331C>A	ENSP00000323595:p.Asp70Tyr	False	False		Somatic	0					p.D70Y	NM_001005199.1	NP_001005199.1	WXS	Illumina HiSeq	Phase_I	Q8NGG4	OR8H1_HUMAN			1	235	-	Esophageal squamous(21;0.00448)		70					B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.208G>T	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920585	0.33908	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.01185	5.21	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.11879	0.0289	H	0.96777	3.88	0.39098	D	0.961238	D	0.71674	0.998	D	0.66979	0.948	T	0.25606	-1.0127	10	0.87932	D	0	.	16.4739	0.84127	0.0:1.0:0.0:0.0	.	70	Q8NGG4	OR8H1_HUMAN	Y	70;66	ENSP00000323595:D70Y	ENSP00000323595:D70Y	D	-	1	0	OR8H1	55814907	0.997000	0.39634	0.932000	0.37286	0.004000	0.04260	4.149000	0.58091	2.147000	0.66899	0.544000	0.68410	GAC		0.413	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	0	NM_001005199		11:56058331
STAT4	6775	broad.mit.edu	37	2	191898700	191898700	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:191898700C>A	ENST00000392320.2	-	19	1966	c.1652G>T	c.(1651-1653)tGg>tTg	p.W551L	STAT4_ENST00000470708.1_5'Flank|STAT4_ENST00000358470.4_Missense_Mutation_p.W551L|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	551					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGCCATGTCCAAAAGGTAAA	0.289																																						ENST00000392320.2		NA																	0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1651-1653)tGg>tTg		signal transducer and activator of transcription 4							124.0	132.0	130.0					2																	191898700		2203	4294	6497	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191898700C>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1652G>T	2.37:g.191898700C>A	ENSP00000376134:p.Trp551Leu	True	False		Somatic	0				STAT4_ENST00000358470.4_Missense_Mutation_p.W551L	p.W551L	NM_003151.3	NP_003142.1	WXS	Illumina HiSeq	Phase_I	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		19	1966	-			551					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.1652G>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906762	0.92107	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.95377	-3.69;-3.69	5.65	5.65	0.86999	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98574	1.0647	10	0.87932	D	0	-36.5705	20.0845	0.97795	0.0:1.0:0.0:0.0	.	460;551;551	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	L	551	ENSP00000351255:W551L;ENSP00000376134:W551L	ENSP00000351255:W551L	W	-	2	0	STAT4	191606945	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.010000	0.76353	2.821000	0.97095	0.650000	0.86243	TGG		0.289	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	0	NM_003151		2:191898700
TNXB	7148	broad.mit.edu	37	6	32046907	32046907	+	Silent	SNP	G	G	T	rs375254727		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:32046907G>T	ENST00000375244.3	-	11	4479	c.4278C>A	c.(4276-4278)acC>acA	p.T1426T	TNXB_ENST00000375247.2_Silent_p.T1426T|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1513	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCTCCCACGGTGACCTCAC	0.687																																						ENST00000375244.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4276-4278)acC>acA		tenascin XB							84.0	97.0	93.0					6																	32046907		1309	2566	3875	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32046907G>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4278C>A	6.37:g.32046907G>T		False	False		Somatic	0				TNXB_ENST00000375247.2_Silent_p.T1426T	p.T1426T			WXS	Illumina HiSeq	Phase_I	P22105	TENX_HUMAN			11	4479	-			1513			Fibronectin type-III 6.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.4278C>A																																																																																					0.687	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	0	NM_019105		6:32046907
DIO1	1733	broad.mit.edu	37	1	54370394	54370394	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:54370394C>A	ENST00000361921.3	+	2	417	c.393C>A	c.(391-393)ttC>ttA	p.F131L	DIO1_ENST00000525202.1_Missense_Mutation_p.F67L|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000322679.6_Missense_Mutation_p.F131L|DIO1_ENST00000524406.1_Missense_Mutation_p.F2L	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	131					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						CATTTATGTTCAAATTTGACC	0.393																																						ENST00000361921.3		NA																	0				cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						c.(391-393)ttC>ttA		deiodinase, iodothyronine, type I							271.0	244.0	253.0					1																	54370394		1907	4123	6030	SO:0001583	missense	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54370394C>A		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.393C>A	1.37:g.54370394C>A	ENSP00000354643:p.Phe131Leu	True	False		Somatic	0				DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Missense_Mutation_p.F67L|DIO1_ENST00000524406.1_Missense_Mutation_p.F2L|DIO1_ENST00000322679.6_Missense_Mutation_p.F131L|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000534069.1_3'UTR	p.F131L	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	WXS	Illumina HiSeq	Phase_I	P49895	IOD1_HUMAN			2	417	+			131					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Missense_Mutation	SNP	ENST00000361921.3	37	c.393C>A	CCDS41339.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595138	0.28445	.	.	ENSG00000211452	ENST00000529589;ENST00000361921;ENST00000322679;ENST00000525202;ENST00000524406	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.57;1.57	5.37	3.49	0.39957	Thioredoxin-like fold (1);	0.395803	0.20764	N	0.086110	T	0.24470	0.0593	L	0.27053	0.805	0.80722	D	1	B;B;B	0.15930	0.002;0.002;0.015	B;B;B	0.15484	0.002;0.003;0.013	T	0.04946	-1.0916	10	0.11182	T	0.66	.	6.6538	0.22977	0.1409:0.6659:0.1215:0.0717	.	131;131;67	P49895-5;P49895;P49895-2	.;IOD1_HUMAN;.	L	88;131;131;67;2	ENSP00000432797:F88L;ENSP00000354643:F131L;ENSP00000323198:F131L;ENSP00000435725:F67L;ENSP00000434152:F2L	ENSP00000323198:F131L	F	+	3	2	DIO1	54142982	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.814000	0.27239	0.637000	0.30526	0.655000	0.94253	TTC		0.393	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3	0			1:54370394
ASH1L	55870	broad.mit.edu	37	1	155448756	155448756	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:155448756C>A	ENST00000368346.3	-	3	4544	c.3905G>T	c.(3904-3906)cGg>cTg	p.R1302L	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1302L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1302					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)			ATGAGTGATCCGAATTTCACT	0.393																																						ENST00000368346.3		NA																	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.(3904-3906)cGg>cTg		ash1 (absent, small, or homeotic)-like (Drosophila)							100.0	105.0	103.0					1																	155448756		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.chr1:155448756C>A	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.3905G>T	1.37:g.155448756C>A	ENSP00000357330:p.Arg1302Leu	False	False		Somatic	0				ASH1L_ENST00000392403.3_Missense_Mutation_p.R1302L	p.R1302L			WXS	Illumina HiSeq	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	4544	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1302					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.3905G>T		.	.	.	.	.	.	.	.	.	.	C	19.38	3.816696	0.70912	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.91068	-2.78;-2.78	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000002	D	0.91199	0.7227	L	0.29908	0.895	0.80722	D	1	D;D	0.63046	0.987;0.992	D;D	0.72982	0.953;0.979	D	0.92702	0.6175	10	0.87932	D	0	.	17.9016	0.88906	0.0:1.0:0.0:0.0	.	1302;1302	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	L	1302	ENSP00000357330:R1302L;ENSP00000376204:R1302L	ENSP00000357330:R1302L	R	-	2	0	ASH1L	153715380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.555000	0.86185	0.591000	0.81541	CGG		0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	0	NM_018489		1:155448756
VPS13B	157680	broad.mit.edu	37	8	100123331	100123331	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:100123331G>T	ENST00000358544.2	+	6	697	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	VPS13B_ENST00000357162.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000441350.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000395996.1_Missense_Mutation_p.D196Y|VPS13B_ENST00000355155.1_Missense_Mutation_p.D196Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	196					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTAGCAACTGATTTGGTGCT	0.274																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1		NA																	0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(586-588)Gat>Tat		vacuolar protein sorting 13 homolog B (yeast)							57.0	60.0	59.0					8																	100123331		2193	4298	6491	SO:0001583	missense	157680				protein transport			g.chr8:100123331G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.586G>T	8.37:g.100123331G>T	ENSP00000351346:p.Asp196Tyr	False	False		Somatic	0				VPS13B_ENST00000355155.1_Missense_Mutation_p.D196Y|VPS13B_ENST00000358544.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000357162.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000441350.2_Missense_Mutation_p.D196Y	p.D196Y			WXS	Illumina HiSeq	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		6	697	+	Breast(36;3.73e-07)		196					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.586G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352102	0.82132	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.83506	-1.16;-0.45;-0.45;-0.16;-1.73	5.32	5.32	0.75619	.	0.058121	0.64402	D	0.000004	D	0.89196	0.6646	L	0.55481	1.735	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.999;0.999;0.993;0.999;0.98	D;D;D;D;P	0.68039	0.939;0.915;0.911;0.955;0.804	D	0.90092	0.4178	10	0.87932	D	0	.	18.9995	0.92828	0.0:0.0:1.0:0.0	.	196;196;196;196;196	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	Y	196	ENSP00000347281:D196Y;ENSP00000349685:D196Y;ENSP00000351346:D196Y;ENSP00000379318:D196Y;ENSP00000398472:D196Y	ENSP00000347281:D196Y	D	+	1	0	VPS13B	100192507	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.588000	0.98232	2.479000	0.83701	0.555000	0.69702	GAT		0.274	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	0	NM_184042		8:100123331
NRXN1	9378	broad.mit.edu	37	2	50765565	50765565	+	Silent	SNP	G	G	T	rs200844126		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:50765565G>T	ENST00000406316.2	-	10	3445	c.1969C>A	c.(1969-1971)Cgg>Agg	p.R657R	NRXN1_ENST00000405472.3_Silent_p.R649R|NRXN1_ENST00000402717.3_Silent_p.R649R|NRXN1_ENST00000406859.3_Silent_p.R657R|NRXN1_ENST00000404971.1_Silent_p.R697R|NRXN1_ENST00000401669.2_Silent_p.R657R|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	657	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCATTTGCCGGATATCTTTG	0.502																																						ENST00000404971.1		NA																	0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2089-2091)Cgg>Agg		neurexin 1							262.0	273.0	269.0					2																	50765565		2194	4294	6488	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765565G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1969C>A	2.37:g.50765565G>T		False	False		Somatic	0				NRXN1_ENST00000406316.2_Silent_p.R657R|NRXN1_ENST00000401669.2_Silent_p.R657R|NRXN1_ENST00000402717.3_Silent_p.R649R|NRXN1_ENST00000405472.3_Silent_p.R649R|NRXN1_ENST00000406859.3_Silent_p.R657R|NRXN1_ENST00000331040.5_5'UTR	p.R697R	NM_001135659.1	NP_001129131.1	WXS	Illumina HiSeq	Phase_I	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3428	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	657			EGF-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.2089C>A	CCDS54360.1																																																																																				0.502	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2	0			2:50765565
VCAN	1462	broad.mit.edu	37	5	82868255	82868255	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:82868255C>A	ENST00000265077.3	+	13	10321	c.9756C>A	c.(9754-9756)ccC>ccA	p.P3252P	VCAN_ENST00000343200.5_Silent_p.P2265P|VCAN_ENST00000342785.4_Silent_p.P1498P|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Silent_p.P511P|VCAN_ENST00000512590.2_Silent_p.P1450P	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3252	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATTGGAGACCCAACCAGCCAG	0.423																																						ENST00000265077.3		NA																	0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(9754-9756)ccC>ccA		versican							131.0	131.0	131.0					5																	82868255		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82868255C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9756C>A	5.37:g.82868255C>A		True	False		Somatic	0				VCAN_ENST00000343200.5_Silent_p.P2265P|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Silent_p.P1450P|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Silent_p.P511P|VCAN_ENST00000342785.4_Silent_p.P1498P	p.P3252P	NM_004385.4	NP_004376.2	WXS	Illumina HiSeq	Phase_I	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	13	10321	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3252			C-type lectin.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.9756C>A	CCDS4060.1																																																																																				0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	0	NM_004385		5:82868255
DNTT	1791	broad.mit.edu	37	10	98092312	98092312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:98092312G>T	ENST00000371174.2	+	9	1420	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	DNTT_ENST00000419175.1_Nonsense_Mutation_p.E440*			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	440	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GTGCCCCTACGAGCGTCGTGC	0.542																																						ENST00000419175.1		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(1318-1320)Gag>Tag		DNA nucleotidylexotransferase							210.0	178.0	189.0					10																	98092312		2203	4300	6503	SO:0001587	stop_gained	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98092312G>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1318G>T	10.37:g.98092312G>T	ENSP00000360216:p.Glu440*	False	False		Somatic	0				DNTT_ENST00000371174.2_Nonsense_Mutation_p.E440*	p.E440*	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	WXS	Illumina HiSeq	Phase_I	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	9	1488	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	440			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Nonsense_Mutation	SNP	ENST00000371174.2	37	c.1318G>T	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016755	0.93404	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	.	.	.	5.81	4.9	0.64082	.	0.293454	0.37577	N	0.002031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-7.7521	14.7956	0.69876	0.0:0.1449:0.8551:0.0	.	.	.	.	X	440	.	ENSP00000360216:E440X	E	+	1	0	DNTT	98082302	1.000000	0.71417	0.062000	0.19696	0.261000	0.26267	7.045000	0.76585	1.452000	0.47756	0.655000	0.94253	GAG		0.542	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	0	NM_004088		10:98092312
HTR3A	3359	broad.mit.edu	37	11	113856786	113856786	+	Silent	SNP	C	C	A	rs375398394		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:113856786C>A	ENST00000504030.2	+	6	1039	c.594C>A	c.(592-594)tcC>tcA	p.S198S	HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000506841.2_Silent_p.S198S|HTR3A_ENST00000299961.5_Silent_p.S183S|HTR3A_ENST00000375498.2_Silent_p.S204S|HTR3A_ENST00000355556.2_Silent_p.S204S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	198					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	AGGTGAAATCCGACAGGAGTG	0.502																																						ENST00000504030.2		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(592-594)tcC>tcA		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						190.0	199.0	196.0					11																	113856786		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113856786C>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.594C>A	11.37:g.113856786C>A		False	False		Somatic	0				HTR3A_ENST00000506841.2_Silent_p.S198S|HTR3A_ENST00000299961.5_Silent_p.S183S|HTR3A_ENST00000375498.2_Silent_p.S204S|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000355556.2_Silent_p.S204S	p.S198S			WXS	Illumina HiSeq	Phase_I	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	1039	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	198					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.594C>A																																																																																					0.502	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	0	NM_000869		11:113856786
PCP4	5121	broad.mit.edu	37	21	41300976	41300976	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:41300976G>A	ENST00000328619.5	+	3	314	c.129G>A	c.(127-129)gcG>gcA	p.A43A	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	43	IQ.				central nervous system development (GO:0007417)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.A43A(1)		large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				AACGTGCAGCGGTGGCCATTC	0.463																																						ENST00000328619.5		NA																	1	Substitution - coding silent(1)	p.A43A(1)	large_intestine(1)	large_intestine(2)|lung(1)|skin(1)	4						c.(127-129)gcG>gcA		Purkinje cell protein 4							102.0	94.0	97.0					21																	41300976		2203	4300	6503	SO:0001819	synonymous_variant	5121				central nervous system development	cytosol|nucleus		g.chr21:41300976G>A	X93349, U53709	CCDS33563.1	21q22.2	2006-12-01			ENSG00000183036	ENSG00000183036			8742	protein-coding gene	gene with protein product		601629				8931698, 8914602	Standard	NM_006198		Approved	PEP-19	uc002yyp.3	P48539	OTTHUMG00000086731	ENST00000328619.5:c.129G>A	21.37:g.41300976G>A		False	False		Somatic	0				PCP4_ENST00000468717.1_3'UTR	p.A43A	NM_006198.2	NP_006189.2	WXS	Illumina HiSeq	Phase_I	P48539	PCP4_HUMAN			3	314	+		Prostate(19;2.65e-06)|all_epithelial(19;0.138)	43			IQ.		A6NDJ9|Q6ICS4|Q93059	Silent	SNP	ENST00000328619.5	37	c.129G>A	CCDS33563.1																																																																																				0.463	PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195025.1	0	NM_006198		21:41300976
ZNF200	7752	broad.mit.edu	37	16	3274343	3274343	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:3274343C>A	ENST00000431561.3	-	5	1349	c.737G>T	c.(736-738)cGg>cTg	p.R246L	ZNF200_ENST00000396870.4_Missense_Mutation_p.R245L|ZNF200_ENST00000396871.4_Missense_Mutation_p.R245L|ZNF200_ENST00000414144.2_Missense_Mutation_p.R246L|ZNF200_ENST00000396868.3_Missense_Mutation_p.R245L|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000575948.1_Missense_Mutation_p.R245L	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CCTTGTCCTCCGATTTCGAGT	0.413																																						ENST00000431561.3		NA																	0				breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						c.(736-738)cGg>cTg		zinc finger protein 200							124.0	115.0	118.0					16																	3274343		2197	4300	6497	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr16:3274343C>A	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.737G>T	16.37:g.3274343C>A	ENSP00000395723:p.Arg246Leu	False	False		Somatic	0				ZNF200_ENST00000396870.4_Missense_Mutation_p.R245L|ZNF200_ENST00000396868.3_Missense_Mutation_p.R245L|ZNF200_ENST00000575948.1_Missense_Mutation_p.R245L|ZNF200_ENST00000396871.4_Missense_Mutation_p.R245L|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Missense_Mutation_p.R246L	p.R246L	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	WXS	Illumina HiSeq	Phase_I	P98182	ZN200_HUMAN			5	1349	-			246					D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	37	c.737G>T	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	C	7.491	0.650617	0.14516	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T;T	0.07216	3.21;3.24;3.25;3.31	5.17	2.19	0.27852	.	0.401360	0.18508	N	0.139141	T	0.06188	0.0160	L	0.27053	0.805	0.09310	N	1	B;B;B	0.31485	0.218;0.218;0.325	B;B;B	0.32724	0.072;0.072;0.151	T	0.31392	-0.9945	10	0.66056	D	0.02	-20.7119	6.6597	0.23007	0.0:0.631:0.0:0.369	.	245;246;245	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	L	246;245;245;245;246	ENSP00000380079:R246L;ENSP00000380077:R245L;ENSP00000380080:R245L;ENSP00000395723:R246L	ENSP00000380077:R245L	R	-	2	0	ZNF200	3214344	0.037000	0.19845	0.016000	0.15963	0.707000	0.40811	0.023000	0.13533	0.348000	0.23949	0.455000	0.32223	CGG		0.413	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1	0			16:3274343
PTPRA	5786	broad.mit.edu	37	20	3016525	3016525	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:3016525C>G	ENST00000216877.6	+	21	2509	c.2109C>G	c.(2107-2109)atC>atG	p.I703M	PTPRA_ENST00000356147.3_Missense_Mutation_p.I703M|PTPRA_ENST00000380393.3_Missense_Mutation_p.I712M|PTPRA_ENST00000358719.4_Missense_Mutation_p.I568M|PTPRA_ENST00000318266.5_Missense_Mutation_p.I703M|PTPRA_ENST00000425918.2_Missense_Mutation_p.I723M|PTPRA_ENST00000399903.2_Missense_Mutation_p.I712M	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	712	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGATCAGCATCATCGCCGCCG	0.587																																						ENST00000216877.6		NA																	0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2107-2109)atC>atG		protein tyrosine phosphatase, receptor type, A							100.0	91.0	94.0					20																	3016525		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3016525C>G		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2109C>G	20.37:g.3016525C>G	ENSP00000216877:p.Ile703Met	False	False		Somatic	0				PTPRA_ENST00000380393.3_Missense_Mutation_p.I712M|PTPRA_ENST00000425918.2_Missense_Mutation_p.I723M|PTPRA_ENST00000399903.2_Missense_Mutation_p.I712M|PTPRA_ENST00000318266.5_Missense_Mutation_p.I703M|PTPRA_ENST00000358719.4_Missense_Mutation_p.I568M|PTPRA_ENST00000356147.3_Missense_Mutation_p.I703M	p.I703M	NM_080840.2	NP_543030.1	WXS	Illumina HiSeq	Phase_I	P18433	PTPRA_HUMAN			21	2509	+			712			Tyrosine-protein phosphatase 2.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.2109C>G	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091247	0.55968	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76	5.57	4.63	0.57726	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.060068	0.64402	U	0.000008	T	0.13030	0.0316	N	0.13140	0.3	0.54753	D	0.999987	B;P;B	0.49559	0.024;0.925;0.13	B;P;B	0.53549	0.03;0.729;0.158	T	0.12319	-1.0552	10	0.42905	T	0.14	.	14.6291	0.68643	0.0:0.9297:0.0:0.0703	.	723;712;703	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	M	712;703;712;568;322;723;703;703	ENSP00000369756:I712M;ENSP00000216877:I703M;ENSP00000382787:I712M;ENSP00000351559:I568M;ENSP00000393553:I723M;ENSP00000314568:I703M;ENSP00000348468:I703M	ENSP00000216877:I703M	I	+	3	3	PTPRA	2964525	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.486000	0.45259	1.339000	0.45563	0.563000	0.77884	ATC		0.587	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3	0			20:3016525
ZNF511	118472	broad.mit.edu	37	10	135126314	135126314	+	3'UTR	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:135126314G>T	ENST00000359035.3	+	0	1652				ZNF511_ENST00000361518.5_Missense_Mutation_p.G235C|ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000463816.2_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511						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(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CATCTGCTTTGGTCAGGGTGC	0.473																																						ENST00000361518.5		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(703-705)Ggt>Tgt		zinc finger protein 511							181.0	191.0	188.0					10																	135126314		2203	4300	6503	SO:0001624	3_prime_UTR_variant	118472				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135126314G>T	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.*860G>T	10.37:g.135126314G>T		True	False		Somatic	0				ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000359035.3_3'UTR	p.G235C	NM_145806.2	NP_665805.2	WXS	Illumina HiSeq	Phase_I	Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	6	1172	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	0					A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	ENST00000359035.3	37	c.703G>T		.	.	.	.	.	.	.	.	.	.	G	20.2	3.947330	0.73672	.	.	ENSG00000198546	ENST00000361518	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	T	0.79088	0.4387	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82080	-0.0634	7	0.87932	D	0	.	15.0696	0.72024	0.0:0.0:1.0:0.0	.	235	Q8NB15-2	.	C	235	.	ENSP00000355251:G235C	G	+	1	0	ZNF511	134976304	1.000000	0.71417	0.923000	0.36655	0.675000	0.39556	7.514000	0.81750	2.408000	0.81797	0.655000	0.94253	GGT		0.473	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	0	NM_145806		10:135126314
DEK	7913	broad.mit.edu	37	6	18222194	18222194	+	IGR	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:18222194C>A	ENST00000397239.3	-	0	3427				KDM1B_ENST00000297792.5_Silent_p.R582R|KDM1B_ENST00000546309.2_Silent_p.R105R|KDM1B_ENST00000397244.1_Silent_p.R583R|KDM1B_ENST00000388870.2_Silent_p.R815R	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene						chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GAGTGGCGTTCGAGAAGCAAG	0.403			T	NUP214	AML																																	ENST00000388870.2		NA		Dom	yes		6	6p23	7913		DEK oncogene (DNA binding)			L					0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(2443-2445)Cga>Aga		lysine (K)-specific demethylase 1B							160.0	151.0	154.0					6																	18222194		2203	4300	6503	SO:0001628	intergenic_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18222194C>A	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319		6.37:g.18222194C>A		False	False		Somatic	0				KDM1B_ENST00000297792.5_Silent_p.R582R|KDM1B_ENST00000546309.2_Silent_p.R105R|KDM1B_ENST00000397244.1_Silent_p.R583R	p.R815R			WXS	Illumina HiSeq	Phase_I	Q8NB78	KDM1B_HUMAN			22	2684	+			814					B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Silent	SNP	ENST00000397239.3	37	c.2443C>A	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	C	9.377	1.071910	0.20147	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	T	0.72179	0.3428	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68588	-0.5369	4	.	.	.	-6.628	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	L	631	.	.	F	+	3	2	KDM1B	18330173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.740000	0.68629	2.824000	0.97209	0.655000	0.94253	TTC		0.403	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4	0			6:18222194
MCF2L2	23101	broad.mit.edu	37	3	182910813	182910813	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:182910813G>T	ENST00000328913.3	-	27	3287	c.2990C>A	c.(2989-2991)cCg>cAg	p.P997Q	MCF2L2_ENST00000473233.1_Missense_Mutation_p.P997Q|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	997							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCTGGAGGCCGGGTCTTCCTT	0.493																																						ENST00000328913.3		NA																	0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2989-2991)cCg>cAg		MCF.2 cell line derived transforming sequence-like 2							205.0	179.0	188.0					3																	182910813		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182910813G>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2990C>A	3.37:g.182910813G>T	ENSP00000328118:p.Pro997Gln	True	False		Somatic	0				MCF2L2_ENST00000473233.1_Missense_Mutation_p.P997Q|MCF2L2_ENST00000468976.1_5'UTR	p.P997Q	NM_015078.2	NP_055893	WXS	Illumina HiSeq	Phase_I	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		27	3287	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		997					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.2990C>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558511	0.27827	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.01787	4.64;4.65	2.97	2.97	0.34412	.	1.214100	0.06023	N	0.651619	T	0.02455	0.0075	N	0.19112	0.55	0.31814	N	0.626829	D	0.53619	0.961	P	0.48454	0.578	T	0.46965	-0.9153	10	0.27785	T	0.31	.	9.6801	0.40065	0.0:0.0:1.0:0.0	.	997	Q86YR7	MF2L2_HUMAN	Q	997	ENSP00000328118:P997Q;ENSP00000420070:P997Q	ENSP00000328118:P997Q	P	-	2	0	MCF2L2	184393507	0.000000	0.05858	0.091000	0.20842	0.066000	0.16364	0.072000	0.14617	1.953000	0.56701	0.467000	0.42956	CCG		0.493	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	0	NM_015078		3:182910813
AOX1	316	broad.mit.edu	37	2	201534342	201534342	+	Missense_Mutation	SNP	C	C	A	rs150685936	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:201534342C>A	ENST00000374700.2	+	34	4084	c.3843C>A	c.(3841-3843)ttC>ttA	p.F1281L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1281					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCGTGTTTTTCGCTATCCATG	0.522																																						ENST00000374700.2		NA																	0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(3841-3843)ttC>ttA		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						201.0	197.0	198.0					2																	201534342		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201534342C>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3843C>A	2.37:g.201534342C>A	ENSP00000363832:p.Phe1281Leu	True	False		Somatic	0				AOX1_ENST00000485106.1_3'UTR	p.F1281L	NM_001159.3	NP_001150.3	WXS	Illumina HiSeq	Phase_I	Q06278	ADO_HUMAN			34	4084	+			1281					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3843C>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631444	0.46944	.	.	ENSG00000138356	ENST00000374700;ENST00000260930;ENST00000439380	T;T;T	0.69306	-0.39;-0.39;-0.39	5.41	-4.33	0.03677	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.107097	0.64402	D	0.000004	T	0.65647	0.2711	M	0.76328	2.33	0.58432	D	0.999999	B	0.24721	0.11	B	0.32289	0.143	T	0.58142	-0.7688	10	0.54805	T	0.06	-35.6289	16.4908	0.84200	0.0:0.1033:0.0:0.8967	.	1281	Q06278	ADO_HUMAN	L	1281;145;121	ENSP00000363832:F1281L;ENSP00000260930:F145L;ENSP00000413326:F121L	ENSP00000260930:F145L	F	+	3	2	AOX1	201242587	0.610000	0.26983	0.827000	0.32855	0.299000	0.27559	-0.236000	0.09003	-0.991000	0.03476	0.557000	0.71058	TTC		0.522	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	0	NM_001159		2:201534342
THOC2	57187	broad.mit.edu	37	X	122800961	122800961	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:122800961G>T	ENST00000245838.8	-	11	1217	c.1186C>A	c.(1186-1188)Cga>Aga	p.R396R	THOC2_ENST00000491737.1_Silent_p.R281R|THOC2_ENST00000355725.4_Silent_p.R396R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	396					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACATACCTTCGGTAGAGAGGC	0.348																																						ENST00000245838.8		NA																	0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(1186-1188)Cga>Aga		THO complex 2							109.0	94.0	99.0					X																	122800961		1862	4080	5942	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122800961G>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1186C>A	X.37:g.122800961G>T		False	False		Somatic	0				THOC2_ENST00000355725.4_Silent_p.R396R|THOC2_ENST00000491737.1_Silent_p.R281R	p.R396R	NM_001081550.1	NP_001075019.1	WXS	Illumina HiSeq	Phase_I	Q8NI27	THOC2_HUMAN			11	1217	-			396					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.1186C>A	CCDS43988.1																																																																																				0.348	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3	0			X:122800961
SENP6	26054	broad.mit.edu	37	6	76425185	76425185	+	Silent	SNP	C	C	A	rs184895201		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:76425185C>A	ENST00000447266.2	+	24	3692	c.3214C>A	c.(3214-3216)Cga>Aga	p.R1072R	SENP6_ENST00000370010.2_Silent_p.R1065R|SENP6_ENST00000370014.3_Silent_p.R1072R|SENP6_ENST00000541192.1_3'UTR	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1072	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGAAGAAATCCGAAACATAAT	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18477	0.0		0.0	False		,,,				2504	0.0					ENST00000370014.3		NA																	0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3214-3216)Cga>Aga		SUMO1/sentrin specific peptidase 6							125.0	118.0	120.0					6																	76425185		1842	4091	5933	SO:0001819	synonymous_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76425185C>A		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.3214C>A	6.37:g.76425185C>A		False	False		Somatic	0				SENP6_ENST00000447266.2_Silent_p.R1072R|SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.R1065R	p.R1072R	NM_001100409.1	NP_001093879.1	WXS	Illumina HiSeq	Phase_I	Q9GZR1	SENP6_HUMAN			24	3833	+		all_hematologic(105;0.189)	1072			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	c.3214C>A	CCDS47454.1																																																																																				0.368	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	0	NM_015571		6:76425185
PSG3	5671	broad.mit.edu	37	19	43237144	43237144	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:43237144T>G	ENST00000327495.5	-	3	685	c.501A>C	c.(499-501)ttA>ttC	p.L167F	PSG3_ENST00000595140.1_Missense_Mutation_p.L167F|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	167	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GATCACAGGTTAAGCTCACAG	0.522																																						ENST00000327495.5		NA																	0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(499-501)ttA>ttC		pregnancy specific beta-1-glycoprotein 3							206.0	201.0	203.0					19																	43237144		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43237144T>G		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.501A>C	19.37:g.43237144T>G	ENSP00000332215:p.Leu167Phe	False	False		Somatic	0				PSG3_ENST00000595140.1_Missense_Mutation_p.L167F	p.L167F	NM_021016.3	NP_066296.2	WXS	Illumina HiSeq	Phase_I	Q16557	PSG3_HUMAN			3	685	-		Prostate(69;0.00682)	167			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.501A>C	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	9.036	0.988549	0.18966	.	.	ENSG00000221826	ENST00000327495	T	0.20332	2.08	1.59	0.52	0.17040	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33411	0.0862	M	0.64170	1.965	0.09310	N	1	D;B	0.64830	0.994;0.395	D;B	0.70227	0.968;0.316	T	0.14896	-1.0456	9	0.34782	T	0.22	.	2.9502	0.05859	0.0:0.277:0.0:0.723	.	145;167	Q08266;Q16557	.;PSG3_HUMAN	F	167	ENSP00000332215:L167F	ENSP00000332215:L167F	L	-	3	2	PSG3	47928984	0.000000	0.05858	0.014000	0.15608	0.015000	0.08874	-0.662000	0.05305	0.725000	0.32318	0.324000	0.21423	TTA		0.522	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	0	NM_021016		19:43237144
TTLL6	284076	broad.mit.edu	37	17	46862366	46862366	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:46862366C>T	ENST00000393382.3	-	13	2100	c.1959G>A	c.(1957-1959)tcG>tcA	p.S653S	TTLL6_ENST00000433608.2_Silent_p.S346S	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCTCCAACTTCGAGCTGCTGA	0.542																																						ENST00000393382.3		NA																	0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1957-1959)tcG>tcA		tubulin tyrosine ligase-like family, member 6							126.0	126.0	126.0					17																	46862366		2203	4300	6503	SO:0001819	synonymous_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46862366C>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1959G>A	17.37:g.46862366C>T		False	False		Somatic	0				TTLL6_ENST00000433608.2_Silent_p.S346S	p.S653S	NM_001130918.1	NP_001124390.1	WXS	Illumina HiSeq	Phase_I	Q8N841	TTLL6_HUMAN			13	2100	-			605						Silent	SNP	ENST00000393382.3	37	c.1959G>A	CCDS45724.1																																																																																				0.542	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	0	NM_173623		17:46862366
CBX4	8535	broad.mit.edu	37	17	77808649	77808649	+	Silent	SNP	G	G	T	rs369332437		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:77808649G>T	ENST00000269397.4	-	5	969	c.792C>A	c.(790-792)atC>atA	p.I264I		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	264	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGCTCATCACGATCACGATGC	0.582											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4		NA																	0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(790-792)atC>atA		chromobox homolog 4							259.0	237.0	244.0					17																	77808649		2201	4297	6498	SO:0001819	synonymous_variant	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808649G>T	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.792C>A	17.37:g.77808649G>T		True	False		Somatic	0	OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.I264I	NM_003655.2	NP_003646.2	WXS	Illumina HiSeq	Phase_I	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	969	-			264			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	c.792C>A	CCDS32758.1																																																																																				0.582	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	0	NM_003655		17:77808649
BRWD1	54014	broad.mit.edu	37	21	40578076	40578076	+	Missense_Mutation	SNP	C	C	A	rs147847700	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:40578076C>A	ENST00000333229.2	-	37	4649	c.4322G>T	c.(4321-4323)cGg>cTg	p.R1441L	BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441L|BRWD1_ENST00000342449.3_Missense_Mutation_p.R1441L	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					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)				ACAATTTTGCCGTTGCTTGAA	0.328																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3		NA																	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.(4321-4323)cGg>cTg		bromodomain and WD repeat domain containing 1							126.0	133.0	130.0					21																	40578076		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40578076C>A	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.4322G>T	21.37:g.40578076C>A	ENSP00000330753:p.Arg1441Leu	False	False		Somatic	0				BRWD1_ENST00000333229.2_Missense_Mutation_p.R1441L|BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441L	p.R1441L	NM_033656.3	NP_387505.1	WXS	Illumina HiSeq	Phase_I	Q9NSI6	BRWD1_HUMAN			37	4400	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1441					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4322G>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	9.592	1.126374	0.20959	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	T;T;T	0.59224	0.28;0.31;0.38	4.87	2.09	0.27110	.	0.173450	0.35970	N	0.002879	T	0.49150	0.1540	L	0.58101	1.795	0.09310	N	1	P;P;B	0.41546	0.632;0.754;0.358	B;B;B	0.38428	0.273;0.256;0.067	T	0.44952	-0.9294	10	0.72032	D	0.01	-0.1605	7.9196	0.29837	0.0:0.6:0.0:0.4	.	1441;1441;1441	Q9NSI6-3;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	L	1441;1441;1441;397	ENSP00000330753:R1441L;ENSP00000344333:R1441L;ENSP00000370178:R1441L	ENSP00000330753:R1441L	R	-	2	0	BRWD1	39499946	0.025000	0.19082	0.345000	0.25642	0.581000	0.36288	0.356000	0.20181	0.141000	0.18875	-0.258000	0.10820	CGG		0.328	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	0	NM_033656		21:40578076
IKZF1	10320	broad.mit.edu	37	7	50455075	50455075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:50455075C>T	ENST00000331340.3	+	6	777	c.622C>T	c.(622-624)Cga>Tga	p.R208*	IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000438033.1_Nonsense_Mutation_p.R121*|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000343574.5_Nonsense_Mutation_p.R121*|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000346667.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	208					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ATATTGTGGCCGAAGCTATAA	0.473			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3		NA		"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(622-624)Cga>Tga		IKAROS family zinc finger 1 (Ikaros)							55.0	55.0	55.0					7																	50455075		1865	4095	5960	SO:0001587	stop_gained	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50455075C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.622C>T	7.37:g.50455075C>T	ENSP00000331614:p.Arg208*	False	False		Somatic	0				IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000343574.5_Nonsense_Mutation_p.R121*|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000438033.1_Nonsense_Mutation_p.R121*|IKZF1_ENST00000349824.4_Intron	p.R208*	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	WXS	Illumina HiSeq	Phase_I	Q13422	IKZF1_HUMAN			6	777	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	208					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Nonsense_Mutation	SNP	ENST00000331340.3	37	c.622C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.427115	0.98279	.	.	ENSG00000185811	ENST00000343574;ENST00000331340;ENST00000438033	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6208	20.1731	0.98165	0.0:1.0:0.0:0.0	.	.	.	.	X	121;208;121	.	ENSP00000331614:R208X	R	+	1	2	IKZF1	50422569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.768000	0.95171	0.655000	0.94253	CGA		0.473	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	0	NM_006060		7:50455075
PDSS1	23590	broad.mit.edu	37	10	26998640	26998640	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:26998640G>T	ENST00000376215.5	+	5	463	c.410G>T	c.(409-411)cGa>cTa	p.R137L	PDSS1_ENST00000376203.5_Missense_Mutation_p.R137L	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	137					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						AAAGCCTTTCGACCAATTATT	0.383																																						ENST00000376215.5		NA																	0				autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.(409-411)cGa>cTa		prenyl (decaprenyl) diphosphate synthase, subunit 1							146.0	146.0	146.0					10																	26998640		2203	4300	6503	SO:0001583	missense	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:26998640G>T	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.410G>T	10.37:g.26998640G>T	ENSP00000365388:p.Arg137Leu	False	False		Somatic	0				PDSS1_ENST00000376203.5_Missense_Mutation_p.R137L	p.R137L	NM_014317.3	NP_055132.2	WXS	Illumina HiSeq	Phase_I	Q5T2R2	DPS1_HUMAN			5	463	+			137					Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	ENST00000376215.5	37	c.410G>T	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249578	0.95305	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	D;D	0.89123	-2.47;-2.47	5.26	5.26	0.73747	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	H	0.99764	4.76	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.78314	0.991;0.957	D	0.99305	1.0902	10	0.87932	D	0	-16.9866	18.8227	0.92103	0.0:0.0:1.0:0.0	.	137;137	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	L	137;137;98	ENSP00000365388:R137L;ENSP00000365376:R137L	ENSP00000365376:R137L	R	+	2	0	PDSS1	27038646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.280000	0.95786	2.619000	0.88677	0.650000	0.86243	CGA		0.383	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1	0			10:26998640
DZIP3	9666	broad.mit.edu	37	3	108353719	108353719	+	Splice_Site	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:108353719G>C	ENST00000361582.3	+	10	1048	c.818G>C	c.(817-819)gGa>gCa	p.G273A	DZIP3_ENST00000463306.1_Splice_Site_p.G273A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	273					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTTTCCAGGGATTTTTTCAG	0.254																																						ENST00000361582.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(817-819)gGa>gCa		DAZ interacting zinc finger protein 3							65.0	67.0	67.0					3																	108353719		2198	4295	6493	SO:0001630	splice_region_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108353719G>C	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.817-1G>C	3.37:g.108353719G>C		True	False		Somatic	0				DZIP3_ENST00000463306.1_Splice_Site_p.G273A	p.G273A	NM_014648.3	NP_055463.1	WXS	Illumina HiSeq	Phase_I	Q86Y13	DZIP3_HUMAN			10	1048	+			273					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Splice_Site	SNP	ENST00000361582.3	37	c.818G>C	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	g	15.78	2.934030	0.52866	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.44881	0.91;0.91;0.91	5.08	5.08	0.68730	.	0.000000	0.51477	D	0.000098	T	0.30885	0.0779	N	0.19112	0.55	0.39140	D	0.96201	P	0.38020	0.615	B	0.37480	0.251	T	0.33111	-0.9881	10	0.87932	D	0	-15.8714	13.8419	0.63444	0.0:0.0:1.0:0.0	.	273	Q86Y13	DZIP3_HUMAN	A	273	ENSP00000355028:G273A;ENSP00000418115:G273A;ENSP00000419981:G273A	ENSP00000355028:G273A	G	+	2	0	DZIP3	109836409	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.216000	0.58540	2.617000	0.88574	0.637000	0.83480	GGA		0.254	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	0	NM_014648	Missense_Mutation	3:108353719
SUPT5H	6829	broad.mit.edu	37	19	39963541	39963541	+	Silent	SNP	C	C	A	rs146582409	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:39963541C>A	ENST00000599117.1	+	23	2494	c.2127C>A	c.(2125-2127)acC>acA	p.T709T	SUPT5H_ENST00000432763.2_Silent_p.T709T|SUPT5H_ENST00000359191.6_Silent_p.T705T|SUPT5H_ENST00000402194.2_Silent_p.T705T|SUPT5H_ENST00000598725.1_Silent_p.T709T			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	709	KOW 5.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCGGCCAGACCGTGCGCATCT	0.677																																						ENST00000599117.1		NA																	0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(2125-2127)acC>acA		suppressor of Ty 5 homolog (S. cerevisiae)							47.0	47.0	47.0					19																	39963541		2203	4300	6503	SO:0001819	synonymous_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39963541C>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2127C>A	19.37:g.39963541C>A		False	False		Somatic	0				SUPT5H_ENST00000598725.1_Silent_p.T709T|SUPT5H_ENST00000402194.2_Silent_p.T705T|SUPT5H_ENST00000432763.2_Silent_p.T709T|SUPT5H_ENST00000359191.6_Silent_p.T705T	p.T709T			WXS	Illumina HiSeq	Phase_I	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		23	2494	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		709			KOW 5.		O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.2127C>A	CCDS12536.1																																																																																				0.677	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	0	NM_003169		19:39963541
WWC3	55841	broad.mit.edu	37	X	10090729	10090729	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:10090729G>T	ENST00000380861.4	+	12	2092	c.1701G>T	c.(1699-1701)tcG>tcT	p.S567S	WWC3_ENST00000454666.1_Silent_p.S567S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	567					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CATGTCTGTCGGATTATTCGC	0.522																																						ENST00000380861.4		NA																	0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(1699-1701)tcG>tcT		WWC family member 3							258.0	234.0	242.0					X																	10090729		2203	4300	6503	SO:0001819	synonymous_variant	55841							g.chrX:10090729G>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1701G>T	X.37:g.10090729G>T		True	False		Somatic	0				WWC3_ENST00000454666.1_Silent_p.S567S	p.S567S	NM_015691.3	NP_056506.2	WXS	Illumina HiSeq	Phase_I	Q9ULE0	WWC3_HUMAN			12	2092	+			567					A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.1701G>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.186238	0.01620	.	.	ENSG00000047644	ENST00000398613	.	.	.	4.72	-9.45	0.00600	.	.	.	.	.	.	.	.	.	.	.	0.51012	D	0.999909	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7766	1.7556	0.02981	0.4469:0.1995:0.1384:0.2152	.	.	.	.	X	572	.	.	G	+	1	0	WWC3	10050729	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	-1.599000	0.02085	-3.243000	0.00206	-0.926000	0.02714	GGA		0.522	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	0	NM_015691		X:10090729
B4GALT2	8704	broad.mit.edu	37	1	44455983	44455983	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:44455983C>A	ENST00000356836.6	+	7	1772	c.982C>A	c.(982-984)Caa>Aaa	p.Q328K	B4GALT2_ENST00000434555.2_Missense_Mutation_p.Q262K|CCDC24_ENST00000372318.3_5'Flank|B4GALT2_ENST00000309519.7_Missense_Mutation_p.Q357K|B4GALT2_ENST00000372324.1_Missense_Mutation_p.Q328K	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	328					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TACCAAGATTCAAAACACGAA	0.473																																						ENST00000356836.6		NA																	0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(982-984)Caa>Aaa		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)						234.0	259.0	250.0					1																	44455983		2203	4300	6503	SO:0001583	missense	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44455983C>A	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.982C>A	1.37:g.44455983C>A	ENSP00000349293:p.Gln328Lys	True	False		Somatic	0				B4GALT2_ENST00000309519.7_Missense_Mutation_p.Q357K|B4GALT2_ENST00000372324.1_Missense_Mutation_p.Q328K|B4GALT2_ENST00000434555.2_Missense_Mutation_p.Q262K	p.Q328K	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	WXS	Illumina HiSeq	Phase_I	O60909	B4GT2_HUMAN			7	1772	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	328					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	c.982C>A	CCDS506.1	.	.	.	.	.	.	.	.	.	.	C	5.578	0.291477	0.10567	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.3	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	L	0.37630	1.12	0.54753	D	0.999985	B;B;B	0.24882	0.013;0.113;0.069	B;B;B	0.26517	0.004;0.07;0.032	T	0.04650	-1.0936	10	0.05721	T	0.95	-5.8311	15.6663	0.77234	0.1383:0.8617:0.0:0.0	.	357;262;328	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	K	328;262;328;357	ENSP00000361399:Q328K;ENSP00000407468:Q262K;ENSP00000349293:Q328K;ENSP00000310696:Q357K	ENSP00000310696:Q357K	Q	+	1	0	B4GALT2	44228570	0.962000	0.33011	1.000000	0.80357	0.990000	0.78478	1.823000	0.39062	1.356000	0.45884	0.543000	0.68304	CAA		0.473	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	0	NM_003780		1:44455983
ZBED9	114821	broad.mit.edu	37	6	28543364	28543364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:28543364G>T	ENST00000452236.2	-	3	1735	c.1118C>A	c.(1117-1119)tCa>tAa	p.S373*	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTGGCATCTTGAACTAACTTC	0.338																																						ENST00000452236.2		NA																	0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(1117-1119)tCa>tAa		SCAN domain containing 3							114.0	117.0	116.0					6																	28543364		2203	4300	6503	SO:0001587	stop_gained	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543364G>T																												ENST00000452236.2:c.1118C>A	6.37:g.28543364G>T	ENSP00000395259:p.Ser373*	True	False		Somatic	0					p.S373*	NM_052923.1	NP_443155.1	WXS	Illumina HiSeq	Phase_I	Q6R2W3	SCND3_HUMAN			3	1735	-			373			Integrase catalytic.			Nonsense_Mutation	SNP	ENST00000452236.2	37	c.1118C>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	41	8.759941	0.98943	.	.	ENSG00000232040	ENST00000452236	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6309	0.45536	0.0:0.0:1.0:0.0	.	.	.	.	X	373	.	ENSP00000395259:S373X	S	-	2	0	SCAND3	28651343	0.999000	0.42202	0.978000	0.43139	0.998000	0.95712	2.230000	0.42999	1.935000	0.56089	0.655000	0.94253	TCA		0.338	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	0			6:28543364
ASB15	142685	broad.mit.edu	37	7	123269090	123269090	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:123269090G>A	ENST00000451558.1	+	12	1563	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	ASB15_ENST00000275699.3_Missense_Mutation_p.D348N|ASB15_ENST00000540573.1_Missense_Mutation_p.D348N|ASB15_ENST00000434204.1_Missense_Mutation_p.D348N|ASB15_ENST00000451215.1_Missense_Mutation_p.D348N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	348					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAGCTATGACGATGAGAGGAA	0.453																																						ENST00000451558.1		NA																	0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1042-1044)Gat>Aat		ankyrin repeat and SOCS box containing 15							178.0	161.0	167.0					7																	123269090		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269090G>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1042G>A	7.37:g.123269090G>A	ENSP00000397655:p.Asp348Asn	False	False		Somatic	0				ASB15_ENST00000275699.3_Missense_Mutation_p.D348N|ASB15_ENST00000434204.1_Missense_Mutation_p.D348N|ASB15_ENST00000540573.1_Missense_Mutation_p.D348N|ASB15_ENST00000451215.1_Missense_Mutation_p.D348N	p.D348N			WXS	Illumina HiSeq	Phase_I	Q8WXK1	ASB15_HUMAN			12	1563	+			348					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1042G>A	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286594	0.95517	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	N	0.11789	0.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12477	-1.0546	10	0.26408	T	0.33	-59.0637	20.8794	0.99867	0.0:0.0:1.0:0.0	.	348	Q8WXK1	ASB15_HUMAN	N	348;348;348;348;137;348	ENSP00000397655:D348N;ENSP00000390963:D348N;ENSP00000416433:D348N;ENSP00000438643:D348N;ENSP00000275699:D348N	ENSP00000275699:D348N	D	+	1	0	ASB15	123056326	1.000000	0.71417	0.606000	0.28943	0.963000	0.63663	9.461000	0.97646	2.941000	0.99782	0.655000	0.94253	GAT		0.453	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1	0			7:123269090
ZNF217	7764	broad.mit.edu	37	20	52193233	52193233	+	Silent	SNP	G	G	T	rs377601068		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:52193233G>T	ENST00000371471.2	-	4	2495	c.2070C>A	c.(2068-2070)tcC>tcA	p.S690S	ZNF217_ENST00000302342.3_Silent_p.S690S|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	690					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)			GAGCCCCCACGGATAAATTTA	0.428																																						ENST00000371471.2		NA																	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.(2068-2070)tcC>tcA		zinc finger protein 217							90.0	99.0	96.0					20																	52193233		2203	4300	6503	SO:0001819	synonymous_variant	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.chr20:52193233G>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.2070C>A	20.37:g.52193233G>T		False	False		Somatic	0				ZNF217_ENST00000302342.3_Silent_p.S690S	p.S690S			WXS	Illumina HiSeq	Phase_I	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)		4	2495	-	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)		690					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.2070C>A	CCDS13443.1																																																																																				0.428	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	0	NM_006526		20:52193233
PAXBP1	94104	broad.mit.edu	37	21	34109641	34109641	+	Silent	SNP	G	G	T	rs199507974		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:34109641G>T	ENST00000331923.4	-	17	2749	c.2560C>A	c.(2560-2562)Cga>Aga	p.R854R	PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1-AS1_ENST00000455170.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	854					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACAAGGTATCGGCAAAAGTTT	0.343																																						ENST00000331923.4		NA																	0					NA						c.(2560-2562)Cga>Aga		PAX3 and PAX7 binding protein 1							80.0	78.0	79.0					21																	34109641		2203	4298	6501	SO:0001819	synonymous_variant	94104							g.chr21:34109641G>T	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2560C>A	21.37:g.34109641G>T		False	False		Somatic	0				PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1-AS1_ENST00000455170.1_RNA	p.R854R	NM_016631.3	NP_057715.2	WXS	Illumina HiSeq	Phase_I					17	2749	-			NA					D3DSE7|Q96DU8|Q9NYQ0	Silent	SNP	ENST00000331923.4	37	c.2560C>A	CCDS13619.1																																																																																				0.343	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	0	NM_013329		21:34109641
TRIM42	287015	broad.mit.edu	37	3	140401695	140401695	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401695C>T	ENST00000286349.3	+	2	924	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	245						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R245C(1)		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						CCGCAACAAGCGCATCGCTTA	0.617																																						ENST00000286349.3		NA																	1	Substitution - Missense(1)	p.R245C(1)	lung(1)	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.(733-735)Cgc>Tgc		tripartite motif containing 42							81.0	77.0	78.0					3																	140401695		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401695C>T	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.733C>T	3.37:g.140401695C>T	ENSP00000286349:p.Arg245Cys	False	False		Somatic	0					p.R245C	NM_152616.4	NP_689829.3	WXS	Illumina HiSeq	Phase_I	Q8IWZ5	TRI42_HUMAN			2	924	+			245					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.733C>T	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565527	0.27915	.	.	ENSG00000155890	ENST00000286349	T	0.40476	1.03	5.2	3.2	0.36748	.	0.322034	0.24884	N	0.034840	T	0.39118	0.1066	L	0.43152	1.355	0.09310	N	0.999999	D	0.71674	0.998	P	0.47528	0.549	T	0.26467	-1.0102	10	0.87932	D	0	-34.1415	9.6896	0.40120	0.4607:0.5393:0.0:0.0	.	245	Q8IWZ5	TRI42_HUMAN	C	245	ENSP00000286349:R245C	ENSP00000286349:R245C	R	+	1	0	TRIM42	141884385	0.002000	0.14202	0.157000	0.22605	0.010000	0.07245	1.370000	0.34238	1.193000	0.43086	0.561000	0.74099	CGC		0.617	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	0	NM_152616		3:140401695
AP4B1	10717	broad.mit.edu	37	1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R276W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483																																						ENST00000369569.1		NA																	2	Substitution - Missense(2)	p.R276W(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(826-828)Cgg>Tgg		adaptor-related protein complex 4, beta 1 subunit							74.0	81.0	78.0					1																	114442814		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442814G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.826C>T	1.37:g.114442814G>A	ENSP00000358582:p.Arg276Trp	True	False		Somatic	0				AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W	p.R276W	NM_001253852.1	NP_001240781.1	WXS	Illumina HiSeq	Phase_I	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1106	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	276					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.826C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272545	0.59649	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;2.55;1.69;1.69	5.09	3.04	0.35103	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.174999	0.49305	D	0.000144	T	0.47192	0.1432	M	0.87328	2.875	0.41890	D	0.990362	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.995;0.974;0.99	T	0.62186	-0.6907	10	0.87932	D	0	.	15.2638	0.73646	0.0:0.0:0.6536:0.3464	.	183;108;276;177	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	W	108;276;276;183;201;108	ENSP00000358580:R108W;ENSP00000358582:R276W;ENSP00000256658:R276W;ENSP00000358579:R183W;ENSP00000358577:R201W;ENSP00000393622:R108W	ENSP00000256658:R276W	R	-	1	2	AP4B1	114244337	0.992000	0.36948	0.837000	0.33122	0.912000	0.54170	1.685000	0.37659	1.225000	0.43566	0.561000	0.74099	CGG		0.483	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	0	NM_006594		1:114442814
GATA2	2624	broad.mit.edu	37	3	128200016	128200016	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:128200016G>T	ENST00000341105.2	-	6	1620	c.1289C>A	c.(1288-1290)gCa>gAa	p.A430E	GATA2_ENST00000487848.1_Missense_Mutation_p.A430E|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.A416E	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	430					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CAGGGCAGCTGCACTGAAGGG	0.612			Mis		AML(CML blast transformation)																																	ENST00000341105.2		NA		Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79						c.(1288-1290)gCa>gAa		GATA binding protein 2							131.0	114.0	119.0					3																	128200016		2203	4300	6503	SO:0001583	missense	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128200016G>T	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1289C>A	3.37:g.128200016G>T	ENSP00000345681:p.Ala430Glu	False	False		Somatic	0				GATA2_ENST00000487848.1_Missense_Mutation_p.A430E|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.A416E	p.A430E	NM_032638.4	NP_116027.2	WXS	Illumina HiSeq	Phase_I	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	6	1620	-			430					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	c.1289C>A	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846692	0.51164	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97303	-4.33;-4.32;-4.33	4.77	4.77	0.60923	.	0.238659	0.42294	D	0.000725	D	0.94202	0.8139	L	0.29908	0.895	0.50039	D	0.999841	P;B	0.36535	0.557;0.049	B;B	0.36845	0.234;0.044	D	0.93760	0.7066	10	0.36615	T	0.2	-15.2932	18.1584	0.89701	0.0:0.0:1.0:0.0	.	416;430	P23769-2;P23769	.;GATA2_HUMAN	E	430;416;430	ENSP00000345681:A430E;ENSP00000400259:A416E;ENSP00000417074:A430E	ENSP00000345681:A430E	A	-	2	0	GATA2	129682706	1.000000	0.71417	0.603000	0.28903	0.746000	0.42486	3.841000	0.55850	2.355000	0.79922	0.491000	0.48974	GCA		0.612	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	0	NM_032638		3:128200016
DEPDC1	55635	broad.mit.edu	37	1	68944984	68944984	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:68944984C>A	ENST00000456315.2	-	10	2069	c.1955G>T	c.(1954-1956)cGa>cTa	p.R652L	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R368L|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	652	Interaction with ZNF224.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TAACACACATCGAGAAAAGGT	0.333																																						ENST00000456315.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1954-1956)cGa>cTa		DEP domain containing 1							56.0	51.0	52.0					1																	68944984		2203	4298	6501	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68944984C>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1955G>T	1.37:g.68944984C>A	ENSP00000412292:p.Arg652Leu	False	False		Somatic	0				DEPDC1_ENST00000370966.5_Missense_Mutation_p.R368L|RP4-694A7.2_ENST00000425820.1_RNA	p.R652L	NM_001114120.1	NP_001107592.1	WXS	Illumina HiSeq	Phase_I	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	10	2069	-			652			Interaction with ZNF224.		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.1955G>T	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981842	0.93044	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	T;T	0.40476	1.03;1.03	5.67	5.67	0.87782	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.060315	0.64402	D	0.000001	T	0.61211	0.2329	M	0.76328	2.33	0.41882	D	0.990322	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.979	T	0.63651	-0.6589	10	0.66056	D	0.02	0.652	19.76	0.96311	0.0:1.0:0.0:0.0	.	652;368	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	L	652;368	ENSP00000412292:R652L;ENSP00000360005:R368L	ENSP00000360005:R368L	R	-	2	0	DEPDC1	68717572	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	6.996000	0.76263	2.670000	0.90874	0.585000	0.79938	CGA		0.333	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	0	NM_017779		1:68944984
KIAA2022	340533	broad.mit.edu	37	X	73963428	73963428	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:73963428G>T	ENST00000055682.6	-	3	1575	c.964C>A	c.(964-966)Cga>Aga	p.R322R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	322					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.R322*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTCTTGTCTCGAACATTGTCC	0.438																																						ENST00000055682.6		NA																	1	Substitution - Nonsense(1)	p.R322*(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(964-966)Cga>Aga		KIAA2022							91.0	78.0	83.0					X																	73963428		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963428G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.964C>A	X.37:g.73963428G>T		False	False		Somatic	0					p.R322R	NM_001008537.2	NP_001008537.1	WXS	Illumina HiSeq	Phase_I	Q5QGS0	K2022_HUMAN			3	1575	-			NA					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.964C>A	CCDS35337.1																																																																																				0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	0	NM_001008537		X:73963428
NXF5	55998	broad.mit.edu	37	X	101097757	101097757	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:101097757C>A	ENST00000361708.2	-	3	367	c.8G>T	c.(7-9)cGg>cTg	p.R3L	NXF5_ENST00000537026.1_Missense_Mutation_p.R3L|NXF5_ENST00000473265.2_Missense_Mutation_p.R3L			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	3					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTGTGTGTTCCGCCTCATTTT	0.423																																						ENST00000537026.1		NA																	0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						c.(7-9)cGg>cTg		nuclear RNA export factor 5							369.0	299.0	322.0					X																	101097757		2203	4300	6503	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101097757C>A	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.8G>T	X.37:g.101097757C>A	ENSP00000355286:p.Arg3Leu	False	False		Somatic	0				NXF5_ENST00000473265.2_Missense_Mutation_p.R3L|NXF5_ENST00000361708.2_Missense_Mutation_p.R3L	p.R3L	NM_032946.2	NP_116564.2	WXS	Illumina HiSeq	Phase_I	Q9H1B4	NXF5_HUMAN			3	367	-			3					A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.8G>T		.	.	.	.	.	.	.	.	.	.	C	4.470	0.087126	0.08583	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.42900	0.96;0.96;0.96	2.02	-0.809	0.10864	.	1.140210	0.06916	U	0.808583	T	0.21962	0.0529	N	0.20986	0.625	0.09310	N	1	B	0.30104	0.268	B	0.18871	0.023	T	0.14254	-1.0479	10	0.34782	T	0.22	.	1.7519	0.02973	0.2969:0.1939:0.0:0.5092	.	3	A2RRM0	.	L	3	ENSP00000442401:R3L;ENSP00000426978:R3L;ENSP00000355286:R3L	ENSP00000263032:R3L	R	-	2	0	NXF5	100984413	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.505000	0.06367	-0.274000	0.09232	-0.989000	0.02550	CGG		0.423	NXF5-201	KNOWN	basic	protein_coding	protein_coding		0			X:101097757
IKBKAP	8518	broad.mit.edu	37	9	111678495	111678495	+	Missense_Mutation	SNP	G	G	T	rs374814563		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:111678495G>T	ENST00000374647.5	-	10	1254	c.947C>A	c.(946-948)cCg>cAg	p.P316Q	IKBKAP_ENST00000537196.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	316					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGGTTTTCGGAATGGAGCT	0.453																																						ENST00000374647.5		NA																	0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(946-948)cCg>cAg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							137.0	140.0	139.0					9																	111678495		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111678495G>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.947C>A	9.37:g.111678495G>T	ENSP00000363779:p.Pro316Gln	False	False		Somatic	0				IKBKAP_ENST00000537196.1_5'UTR	p.P316Q	NM_003640.3	NP_003631.2	WXS	Illumina HiSeq	Phase_I	O95163	ELP1_HUMAN			10	1254	-			316					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.947C>A	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337794	0.24253	.	.	ENSG00000070061	ENST00000374647	T	0.20200	2.09	5.61	-1.68	0.08212	.	0.937565	0.09059	N	0.854523	T	0.28267	0.0698	L	0.58101	1.795	0.09310	N	0.999999	D	0.53462	0.96	P	0.58873	0.847	T	0.33471	-0.9867	10	0.13108	T	0.6	0.1594	4.912	0.13827	0.3142:0.3299:0.3559:0.0	.	316	O95163	ELP1_HUMAN	Q	316	ENSP00000363779:P316Q	ENSP00000363779:P316Q	P	-	2	0	IKBKAP	110718316	0.083000	0.21467	0.028000	0.17463	0.086000	0.17979	0.861000	0.27885	-0.103000	0.12175	-1.004000	0.02495	CCG		0.453	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1	0			9:111678495
KDELC1	79070	broad.mit.edu	37	13	103443642	103443642	+	Missense_Mutation	SNP	C	C	A	rs565697033		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:103443642C>A	ENST00000376004.4	-	5	1147	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	271						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCAGTCAAATCGTACGTAGGC	0.453																																						ENST00000376004.4		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(811-813)Gat>Tat		KDEL (Lys-Asp-Glu-Leu) containing 1							260.0	276.0	271.0					13																	103443642		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103443642C>A	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.811G>T	13.37:g.103443642C>A	ENSP00000365172:p.Asp271Tyr	True	False		Somatic	0				KDELC1_ENST00000460338.1_5'UTR	p.D271Y	NM_024089.2	NP_076994.2	WXS	Illumina HiSeq	Phase_I	Q6UW63	KDEL1_HUMAN			5	1147	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		271					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.811G>T	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078147	0.76528	.	.	ENSG00000134901	ENST00000376004	T	0.24723	1.84	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61262	-0.7098	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	271	Q6UW63	KDEL1_HUMAN	Y	271	ENSP00000365172:D271Y	ENSP00000365172:D271Y	D	-	1	0	KDELC1	102241643	1.000000	0.71417	0.884000	0.34674	0.466000	0.32739	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GAT		0.453	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1	0			13:103443642
FAM114A2	10827	broad.mit.edu	37	5	153381896	153381896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:153381896C>A	ENST00000351797.4	-	11	1247	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	FAM114A2_ENST00000520313.1_Nonsense_Mutation_p.E321*|FAM114A2_ENST00000520667.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000522858.1_Nonsense_Mutation_p.E391*	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	391							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TGGAATAGTTCAATTGAGCAG	0.443																																						ENST00000351797.4		NA																	0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						c.(1171-1173)Gaa>Taa		family with sequence similarity 114, member A2							136.0	129.0	131.0					5																	153381896		2203	4300	6503	SO:0001587	stop_gained	10827						purine nucleotide binding	g.chr5:153381896C>A	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1171G>T	5.37:g.153381896C>A	ENSP00000341597:p.Glu391*	False	False		Somatic	0				FAM114A2_ENST00000522858.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520313.1_Nonsense_Mutation_p.E321*|FAM114A2_ENST00000520667.1_Nonsense_Mutation_p.E391*	p.E391*	NM_018691.2	NP_061161.2	WXS	Illumina HiSeq	Phase_I	Q9NRY5	F1142_HUMAN			11	1247	-			391					B2R8D8|Q9H7E0	Nonsense_Mutation	SNP	ENST00000351797.4	37	c.1171G>T	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	C	38	6.870452	0.97901	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.3981	19.2161	0.93778	0.0:1.0:0.0:0.0	.	.	.	.	X	391;391;391;321	.	ENSP00000341597:E391X	E	-	1	0	FAM114A2	153362089	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.954000	0.70298	2.834000	0.97654	0.655000	0.94253	GAA		0.443	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	0	NM_018691		5:153381896
RASGRP3	25780	broad.mit.edu	37	2	33745672	33745672	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:33745672C>A	ENST00000403687.3	+	6	1029	c.289C>A	c.(289-291)Cgt>Agt	p.R97S	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R97S|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R97S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	97	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.R97S(2)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGTTTGATTCGTATGACTGA	0.423																																						ENST00000403687.3		NA																	2	Substitution - Missense(2)	p.R97S(2)	urinary_tract(1)|lung(1)	large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(289-291)Cgt>Agt		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							258.0	252.0	254.0					2																	33745672		1894	4112	6006	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33745672C>A	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.289C>A	2.37:g.33745672C>A	ENSP00000384192:p.Arg97Ser	False	False		Somatic	0				RASGRP3_ENST00000402538.3_Missense_Mutation_p.R97S|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R97S	p.R97S	NM_001139488.1	NP_001132960.1	WXS	Illumina HiSeq	Phase_I	Q8IV61	GRP3_HUMAN			6	1029	+	all_hematologic(175;0.115)		97			N-terminal Ras-GEF.		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.289C>A	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486860	0.63962	.	.	ENSG00000152689	ENST00000402538;ENST00000437184;ENST00000403687;ENST00000444784;ENST00000423159;ENST00000407811	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.83	5.83	0.93111	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.187977	0.48767	D	0.000170	T	0.44008	0.1273	L	0.33485	1.01	0.43698	D	0.996152	P;P	0.38048	0.616;0.616	P;P	0.44597	0.454;0.454	T	0.11991	-1.0565	10	0.33141	T	0.24	-7.3146	20.1218	0.97964	0.0:1.0:0.0:0.0	.	97;97	D6W583;Q8IV61	.;GRP3_HUMAN	S	97	ENSP00000385886:R97S;ENSP00000393866:R97S;ENSP00000384192:R97S;ENSP00000400602:R97S;ENSP00000388139:R97S;ENSP00000383917:R97S	ENSP00000385886:R97S	R	+	1	0	RASGRP3	33599176	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.883000	0.48554	2.763000	0.94921	0.561000	0.74099	CGT		0.423	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	0	NM_015376		2:33745672
LRP1B	53353	broad.mit.edu	37	2	141946086	141946086	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:141946086C>A	ENST00000389484.3	-	7	1888	c.917G>T	c.(916-918)cGg>cTg	p.R306L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	306					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R306Q(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACAAAGATCCGGTCACCGAC	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3		NA																	1	Substitution - Missense(1)	p.R306Q(1)	lung(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(916-918)cGg>cTg		low density lipoprotein receptor-related protein 1B							108.0	96.0	100.0					2																	141946086		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141946086C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.917G>T	2.37:g.141946086C>A	ENSP00000374135:p.Arg306Leu	False	False	TSP Lung(27;0.18)	Somatic	0					p.R306L	NM_018557.2	NP_061027.2	WXS	Illumina HiSeq	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	7	1888	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	306					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.917G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146250	0.77888	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94457	-3.43	5.2	5.2	0.72013	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.073163	0.53938	U	0.000060	D	0.94814	0.8325	M	0.82823	2.61	0.35523	D	0.801614	P	0.40970	0.734	B	0.43155	0.41	D	0.96461	0.9341	10	0.30078	T	0.28	.	15.1366	0.72572	0.0:0.8583:0.1417:0.0	.	306	Q9NZR2	LRP1B_HUMAN	L	306;244	ENSP00000374135:R306L	ENSP00000374135:R306L	R	-	2	0	LRP1B	141662556	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.923000	0.48868	2.406000	0.81754	0.655000	0.94253	CGG		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	NM_018557		2:141946086
MLLT4	4301	broad.mit.edu	37	6	168265341	168265341	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:168265341C>A	ENST00000447894.2	+	2	216	c.216C>A	c.(214-216)atC>atA	p.I72I	MLLT4_ENST00000392108.3_Silent_p.I72I|MLLT4_ENST00000366806.2_Silent_p.I72I|MLLT4_ENST00000392112.1_Silent_p.I72I|MLLT4_ENST00000351017.4_Silent_p.I72I|MLLT4_ENST00000400822.3_Silent_p.I72I|MLLT4_ENST00000344191.4_Silent_p.I72I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	72	Ras-associating 1. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAGATGTAATCGAAACGCTCG	0.438			T	MLL	AL																																	ENST00000366806.2		NA		Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(214-216)atC>atA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							190.0	203.0	199.0					6																	168265341		2203	4296	6499	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168265341C>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.216C>A	6.37:g.168265341C>A		False	False		Somatic	0				MLLT4_ENST00000392112.1_Silent_p.I72I|MLLT4_ENST00000344191.4_Silent_p.I72I|MLLT4_ENST00000447894.2_Silent_p.I72I|MLLT4_ENST00000392108.3_Silent_p.I72I|MLLT4_ENST00000351017.4_Silent_p.I72I|MLLT4_ENST00000400822.3_Silent_p.I72I	p.I72I			WXS	Illumina HiSeq	Phase_I	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	2	358	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	72			Ras-associating 1.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.216C>A																																																																																					0.438	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	0	NM_005936		6:168265341
ZNF181	339318	broad.mit.edu	37	19	35231549	35231549	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:35231549C>A	ENST00000492450.1	+	4	352	c.263C>A	c.(262-264)tCa>tAa	p.S88*	ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S87*|ZNF181_ENST00000392232.3_Nonsense_Mutation_p.S132*			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	88					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(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGGAATTATCAACAAAGAAG	0.264																																						ENST00000392232.3		NA																	0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(394-396)tCa>tAa		zinc finger protein 181							72.0	86.0	82.0					19																	35231549		2170	4271	6441	SO:0001587	stop_gained	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35231549C>A	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.263C>A	19.37:g.35231549C>A	ENSP00000420727:p.Ser88*	False	False		Somatic	0				ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S87*|ZNF181_ENST00000492450.1_Nonsense_Mutation_p.S88*	p.S132*			WXS	Illumina HiSeq	Phase_I	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	563	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		88					B7ZKX3|Q49A75	Nonsense_Mutation	SNP	ENST00000492450.1	37	c.395C>A	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176182	0.57692	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	.	.	.	3.42	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	3.7581	0.08593	0.2346:0.6242:0.0:0.1412	.	.	.	.	X	132;87;88;87	.	ENSP00000376065:S132X	S	+	2	0	ZNF181	39923389	0.000000	0.05858	0.079000	0.20413	0.847000	0.48162	0.129000	0.15830	0.718000	0.32166	0.491000	0.48974	TCA		0.264	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	0	NM_001029997		19:35231549
CXorf22	170063	broad.mit.edu	37	X	35993949	35993949	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:35993949C>A	ENST00000297866.5	+	15	2698	c.2632C>A	c.(2632-2634)Cgt>Agt	p.R878S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	878										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTGTATAATCGTCAGAATTG	0.403																																						ENST00000297866.5		NA																	0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2632-2634)Cgt>Agt		chromosome X open reading frame 22							175.0	156.0	163.0					X																	35993949		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35993949C>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2632C>A	X.37:g.35993949C>A	ENSP00000297866:p.Arg878Ser	False	False		Somatic	0					p.R878S	NM_152632.3	NP_689845.2	WXS	Illumina HiSeq	Phase_I	Q6ZTR5	CX022_HUMAN			15	2698	+			878					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2632C>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	8.055	0.766948	0.15983	.	.	ENSG00000165164	ENST00000297866	T	0.14022	2.54	5.31	3.49	0.39957	.	0.893270	0.09773	N	0.757696	T	0.10465	0.0256	L	0.38175	1.15	0.09310	N	0.999997	P	0.37141	0.584	B	0.37047	0.24	T	0.24977	-1.0145	10	0.09084	T	0.74	-2.0E-4	7.3829	0.26866	0.1665:0.7418:0.0:0.0917	.	878	Q6ZTR5	CX022_HUMAN	S	878	ENSP00000297866:R878S	ENSP00000297866:R878S	R	+	1	0	CXorf22	35903870	0.970000	0.33590	0.244000	0.24202	0.047000	0.14425	2.312000	0.43726	0.409000	0.25649	0.600000	0.82982	CGT		0.403	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	0	NM_152632		X:35993949
PCDH11X	27328	broad.mit.edu	37	X	91090850	91090850	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:91090850C>A	ENST00000373094.1	+	1	1192	c.347C>A	c.(346-348)cCg>cAg	p.P116Q	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P116Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	116	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P116Q(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCATTTTGCCGGATGAAATA	0.393																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1		NA																	3	Substitution - Missense(3)	p.P116Q(3)	lung(3)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(346-348)cCg>cAg		protocadherin 11 X-linked							78.0	72.0	74.0					X																	91090850		2202	4281	6483	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090850C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.347C>A	X.37:g.91090850C>A	ENSP00000362186:p.Pro116Gln	False	False		Somatic	0				PCDH11X_ENST00000373097.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P116Q	p.P116Q	NM_032968.3	NP_116750.1	WXS	Illumina HiSeq	Phase_I	Q9BZA7	PC11X_HUMAN			1	1192	+			116			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.347C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244372	0.59103	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.54866	0.56;0.62;0.63;0.55;0.64;0.6;0.61;0.63;0.64	4.44	4.44	0.53790	Cadherin (2);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	L	0.59912	1.85	0.54753	D	0.999989	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	T	0.65319	-0.6197	10	0.31617	T	0.26	.	15.4133	0.74943	0.0:1.0:0.0:0.0	.	116;116;116;116;116;116;116;116	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	Q	116	ENSP00000378746:P116Q;ENSP00000362186:P116Q;ENSP00000362189:P116Q;ENSP00000355040:P116Q;ENSP00000362180:P116Q;ENSP00000423762:P116Q;ENSP00000355105:P116Q;ENSP00000384758:P116Q;ENSP00000298274:P116Q	ENSP00000298274:P116Q	P	+	2	0	PCDH11X	90977506	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	6.983000	0.76180	2.173000	0.68751	0.506000	0.49869	CCG		0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	0	NM_032969		X:91090850
GSR	2936	broad.mit.edu	37	8	30539560	30539560	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:30539560C>A	ENST00000221130.5	-	11	1262	c.1172G>T	c.(1171-1173)cGa>cTa	p.R391L	GSR_ENST00000414019.1_Missense_Mutation_p.R348L|GSR_ENST00000546342.1_Missense_Mutation_p.R362L|GSR_ENST00000541648.1_Missense_Mutation_p.R338L|GSR_ENST00000537535.1_Missense_Mutation_p.R309L	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	391					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	GGCAAGTTTTCGGCCAGCAGC	0.383																																						ENST00000221130.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23						c.(1171-1173)cGa>cTa		glutathione reductase	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						98.0	105.0	103.0					8																	30539560		2203	4300	6503	SO:0001583	missense	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30539560C>A		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1172G>T	8.37:g.30539560C>A	ENSP00000221130:p.Arg391Leu	True	False		Somatic	0				GSR_ENST00000541648.1_Missense_Mutation_p.R338L|GSR_ENST00000537535.1_Missense_Mutation_p.R309L|GSR_ENST00000414019.1_Missense_Mutation_p.R348L|GSR_ENST00000546342.1_Missense_Mutation_p.R362L	p.R391L	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	WXS	Illumina HiSeq	Phase_I	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	11	1262	-			391					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	c.1172G>T	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501103	0.85176	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535	T;T;T;D;T	0.81659	1.76;1.76;-0.5;-1.52;-0.84	5.56	4.69	0.59074	.	0.104320	0.64402	D	0.000006	D	0.92113	0.7500	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93624	0.6950	10	0.87932	D	0	-22.4432	12.3051	0.54898	0.0:0.9179:0.0:0.0821	.	391	P00390	GSHR_HUMAN	L	391;348;362;338;309	ENSP00000221130:R391L;ENSP00000390065:R348L;ENSP00000445516:R362L;ENSP00000444559:R338L;ENSP00000438845:R309L	ENSP00000221130:R391L	R	-	2	0	GSR	30659102	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.924000	0.75823	1.359000	0.45940	-0.151000	0.13558	CGA		0.383	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1	0			8:30539560
ANK2	287	broad.mit.edu	37	4	114274328	114274328	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:114274328C>A	ENST00000357077.4	+	38	4607	c.4554C>A	c.(4552-4554)acC>acA	p.T1518T	ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1518	Death 1. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAAAATGACCGCCATCTTGA	0.458																																						ENST00000357077.4		NA																	0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(4552-4554)acC>acA		ankyrin 2, neuronal							75.0	76.0	76.0					4																	114274328		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114274328C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4554C>A	4.37:g.114274328C>A		False	False		Somatic	0				ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	p.T1518T	NM_001148.4	NP_001139.3	WXS	Illumina HiSeq	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	4607	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1485					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.4554C>A	CCDS3702.1																																																																																				0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	0	NM_001148		4:114274328
ZNF557	79230	broad.mit.edu	37	19	7082034	7082034	+	Silent	SNP	C	C	A	rs201136508		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7082034C>A	ENST00000439035.2	+	7	616	c.376C>A	c.(376-378)Cga>Aga	p.R126R	ZNF557_ENST00000252840.6_Silent_p.R133R|ZNF557_ENST00000414706.1_Silent_p.R133R			Q8N988	ZN557_HUMAN	zinc finger protein 557	126					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(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCATGTTTTTCGAAAAGAACA	0.348																																						ENST00000414706.1		NA																	0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(397-399)Cga>Aga		zinc finger protein 557							82.0	81.0	82.0					19																	7082034		1864	4136	6000	SO:0001819	synonymous_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7082034C>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.376C>A	19.37:g.7082034C>A		True	False		Somatic	0				ZNF557_ENST00000439035.2_Silent_p.R126R|ZNF557_ENST00000252840.6_Silent_p.R133R	p.R133R	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	WXS	Illumina HiSeq	Phase_I	Q8N988	ZN557_HUMAN		Lung(535;0.179)	7	870	+			126					Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	c.397C>A	CCDS45945.1																																																																																				0.348	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	0	NM_024341		19:7082034
DNAJC10	54431	broad.mit.edu	37	2	183622482	183622482	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:183622482C>A	ENST00000264065.7	+	19	2288	c.1873C>A	c.(1873-1875)Cag>Aag	p.Q625K		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	625	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTTTGTGCCCAGGAAAACGT	0.333																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.7		NA																	0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(1873-1875)Cag>Aag		DnaJ (Hsp40) homolog, subfamily C, member 10							86.0	91.0	90.0					2																	183622482		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183622482C>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1873C>A	2.37:g.183622482C>A	ENSP00000264065:p.Gln625Lys	True	False		Somatic	0					p.Q625K	NM_018981.1	NP_061854.1	WXS	Illumina HiSeq	Phase_I	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		19	2288	+			NA			Thioredoxin 3.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.1873C>A	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294766	0.23564	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.35789	1.29	5.87	2.93	0.34026	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.376195	0.31963	N	0.006798	T	0.21550	0.0519	N	0.14661	0.345	0.58432	D	0.999999	B;B	0.22080	0.001;0.064	B;B	0.27170	0.004;0.077	T	0.04693	-1.0933	10	0.25106	T	0.35	.	10.7484	0.46194	0.0:0.6612:0.2707:0.0681	.	579;625	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	K	625;579	ENSP00000264065:Q625K	ENSP00000264065:Q625K	Q	+	1	0	DNAJC10	183330727	0.962000	0.33011	0.998000	0.56505	0.992000	0.81027	1.867000	0.39499	0.913000	0.36797	0.655000	0.94253	CAG		0.333	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	0	NM_018981		2:183622482
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1		NA																	4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3097	-			NA						RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	0	NG_008269		15:20644850
OBFC1	79991	broad.mit.edu	37	10	105664909	105664909	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:105664909C>A	ENST00000224950.3	-	4	402	c.235G>T	c.(235-237)Gac>Tac	p.D79Y	OBFC1_ENST00000369764.1_Missense_Mutation_p.D79Y|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	79					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		CCAGTGCTGTCATCCACTGCA	0.398																																						ENST00000224950.3		NA																	0				large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13						c.(235-237)Gac>Tac		oligonucleotide/oligosaccharide-binding fold containing 1							133.0	141.0	138.0					10																	105664909		2203	4300	6503	SO:0001583	missense	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105664909C>A	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.235G>T	10.37:g.105664909C>A	ENSP00000224950:p.Asp79Tyr	False	False		Somatic	0				OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.D79Y	p.D79Y	NM_024928.4	NP_079204.2	WXS	Illumina HiSeq	Phase_I	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	4	402	-		Colorectal(252;0.178)	79					D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	c.235G>T	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282127	0.59867	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.78816	-1.21;-1.21	5.43	4.5	0.54988	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.042369	0.85682	D	0.000000	D	0.87884	0.6290	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89490	0.3756	10	0.87932	D	0	-20.8298	14.0399	0.64669	0.0:0.8475:0.1525:0.0	.	79	Q9H668	STN1_HUMAN	Y	79	ENSP00000224950:D79Y;ENSP00000358779:D79Y	ENSP00000224950:D79Y	D	-	1	0	OBFC1	105654899	1.000000	0.71417	0.384000	0.26145	0.844000	0.47949	5.692000	0.68256	1.365000	0.46057	0.561000	0.74099	GAC		0.398	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	0	NM_024928		10:105664909
GPR107	57720	broad.mit.edu	37	9	132854660	132854660	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:132854660G>T	ENST00000372406.1	+	9	1370	c.863G>T	c.(862-864)cGg>cTg	p.R288L	GPR107_ENST00000347136.6_Splice_Site_p.R288L|GPR107_ENST00000372410.3_Splice_Site_p.R288L	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	288						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CGAAAACGACGGTAAACTATT	0.418																																						ENST00000372406.1		NA																	0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(862-864)cGg>cTg		G protein-coupled receptor 107							125.0	123.0	124.0					9																	132854660		2203	4300	6503	SO:0001630	splice_region_variant	0					integral to membrane		g.chr9:132854660G>T	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.863+1G>T	9.37:g.132854660G>T		False	False		Somatic	0				GPR107_ENST00000372410.3_Splice_Site_p.R288L|GPR107_ENST00000347136.6_Splice_Site_p.R288L	p.R288L	NM_001136557.1	NP_001130029.1	WXS	Illumina HiSeq	Phase_I	Q5VW38	GP107_HUMAN			9	1370	+		Ovarian(14;0.000531)	288					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Splice_Site	SNP	ENST00000372406.1	37	c.863G>T	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842525	0.71488	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	T;T;T	0.26810	1.71;1.74;1.74	5.56	5.56	0.83823	.	0.081892	0.48286	D	0.000183	T	0.26304	0.0642	L	0.46157	1.445	0.58432	D	0.999999	B;B;B	0.19200	0.01;0.034;0.004	B;B;B	0.26416	0.011;0.069;0.01	T	0.07271	-1.0781	10	0.11794	T	0.64	-11.1396	18.183	0.89785	0.0:0.0:1.0:0.0	.	288;288;288	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	L	288	ENSP00000361483:R288L;ENSP00000336988:R288L;ENSP00000361487:R288L	ENSP00000336988:R288L	R	+	2	0	GPR107	131894481	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	6.612000	0.74187	2.638000	0.89438	0.603000	0.83216	CGG		0.418	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2	0		Missense_Mutation	9:132854660
C6orf136	221545	broad.mit.edu	37	6	30619054	30619054	+	Missense_Mutation	SNP	G	G	T	rs554711801		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:30619054G>T	ENST00000376473.5	+	4	734	c.575G>T	c.(574-576)tGg>tTg	p.W192L	C6orf136_ENST00000528347.2_Missense_Mutation_p.W49L|C6orf136_ENST00000293604.6_Missense_Mutation_p.W373L|C6orf136_ENST00000376471.4_Missense_Mutation_p.W58L|AL662800.2_ENST00000583820.1_RNA	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	192						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGCCGGACATGGTACATTCTT	0.493																																						ENST00000293604.6		NA																	0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(1117-1119)tGg>tTg		chromosome 6 open reading frame 136							254.0	255.0	255.0					6																	30619054		2203	4300	6503	SO:0001583	missense	221545							g.chr6:30619054G>T	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.575G>T	6.37:g.30619054G>T	ENSP00000365656:p.Trp192Leu	False	False		Somatic	0				C6orf136_ENST00000376471.4_Missense_Mutation_p.W58L|C6orf136_ENST00000376473.5_Missense_Mutation_p.W192L|C6orf136_ENST00000528347.2_Missense_Mutation_p.W49L	p.W373L	NM_001161376.1	NP_001154848.1	WXS	Illumina HiSeq	Phase_I	Q5SQH8	CF136_HUMAN			4	1311	+			192					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	c.1118G>T	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	G	9.905	1.207852	0.22205	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699;ENST00000467801	.	.	.	4.72	0.6	0.17524	.	0.571491	0.18568	N	0.137403	T	0.07143	0.0181	N	0.08118	0	0.25418	N	0.9883	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.002	T	0.41466	-0.9507	9	0.11485	T	0.65	-1.7055	13.3791	0.60757	0.0:0.0:0.2885:0.7115	.	58;373;192	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	L	373;192;58;310;49;14;5	.	ENSP00000293604:W373L	W	+	2	0	C6orf136	30727033	0.987000	0.35691	0.981000	0.43875	0.980000	0.70556	0.475000	0.22164	-0.006000	0.14370	-0.152000	0.13540	TGG		0.493	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	0	NM_145029		6:30619054
LRP1B	53353	broad.mit.edu	37	2	141816539	141816539	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:141816539G>T	ENST00000389484.3	-	9	2292	c.1321C>A	c.(1321-1323)Cga>Aga	p.R441R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	441					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTAAATCGGTTTATCCTT	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3		NA																	0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(1321-1323)Cga>Aga		low density lipoprotein receptor-related protein 1B							102.0	105.0	104.0					2																	141816539		2203	4299	6502	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141816539G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1321C>A	2.37:g.141816539G>T		False	False	TSP Lung(27;0.18)	Somatic	0					p.R441R	NM_018557.2	NP_061027.2	WXS	Illumina HiSeq	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	9	2292	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	441					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.1321C>A	CCDS2182.1																																																																																				0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	NM_018557		2:141816539
CACNA1S	779	broad.mit.edu	37	1	201019522	201019522	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:201019522C>T	ENST00000362061.3	-	34	4462	c.4236G>A	c.(4234-4236)gaG>gaA	p.E1412E	CACNA1S_ENST00000367338.3_Silent_p.E1393E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1412					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCACTTAGCCTCTGGGTCAT	0.532																																						ENST00000362061.3		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(4234-4236)gaG>gaA		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						85.0	82.0	83.0					1																	201019522		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201019522C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4236G>A	1.37:g.201019522C>T		False	False		Somatic	0				CACNA1S_ENST00000367338.3_Silent_p.E1393E	p.E1412E	NM_000069.2	NP_000060.2	WXS	Illumina HiSeq	Phase_I	Q13698	CAC1S_HUMAN			34	4462	-			1412					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.4236G>A	CCDS1407.1																																																																																				0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	0	NM_000069		1:201019522
SNAPC3	6619	broad.mit.edu	37	9	15459726	15459726	+	Silent	SNP	G	G	T	rs113748924	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:15459726G>T	ENST00000380821.3	+	9	1274	c.1098G>T	c.(1096-1098)acG>acT	p.T366T		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	366					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		GATGGGTGACGAACAATGACA	0.373																																						ENST00000380821.3		NA																	0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12						c.(1096-1098)acG>acT		small nuclear RNA activating complex, polypeptide 3, 50kDa							137.0	129.0	131.0					9																	15459726		2203	4300	6503	SO:0001819	synonymous_variant	6619				regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding	g.chr9:15459726G>T	U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.1098G>T	9.37:g.15459726G>T		False	False		Somatic	0					p.T366T	NM_001039697.1	NP_001034786.1	WXS	Illumina HiSeq	Phase_I	Q92966	SNPC3_HUMAN		GBM - Glioblastoma multiforme(50;2.15e-06)	9	1274	+			366					D3DRI8|Q2VPI6|Q5T285	Silent	SNP	ENST00000380821.3	37	c.1098G>T	CCDS6478.1																																																																																				0.373	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	0	NM_001039697		9:15459726
KLHL5	51088	broad.mit.edu	37	4	39077672	39077672	+	Silent	SNP	C	C	A	rs183165327		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:39077672C>A	ENST00000504108.1	+	2	892	c.609C>A	c.(607-609)gcC>gcA	p.A203A	KLHL5_ENST00000261426.5_Intron|KLHL5_ENST00000261425.3_Silent_p.A157A|KLHL5_ENST00000381930.3_Silent_p.A203A|KLHL5_ENST00000508137.2_Silent_p.A16A|KLHL5_ENST00000359687.2_Silent_p.A203A	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	203						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTAATCATGCCGAGCAAACAT	0.368																																						ENST00000261425.3		NA																	0				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(469-471)gcC>gcA		kelch-like family member 5							115.0	115.0	115.0					4																	39077672		2203	4300	6503	SO:0001819	synonymous_variant	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39077672C>A	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.609C>A	4.37:g.39077672C>A		False	False		Somatic	0				KLHL5_ENST00000504108.1_Silent_p.A203A|KLHL5_ENST00000508137.2_Silent_p.A16A|KLHL5_ENST00000359687.2_Silent_p.A203A|KLHL5_ENST00000381930.3_Silent_p.A203A|KLHL5_ENST00000261426.5_Intron	p.A157A	NM_001007075.2	NP_001007076.1	WXS	Illumina HiSeq	Phase_I	Q96PQ7	KLHL5_HUMAN			3	623	+			203					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Silent	SNP	ENST00000504108.1	37	c.471C>A	CCDS33974.1																																																																																				0.368	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1	0			4:39077672
SLC26A7	115111	broad.mit.edu	37	8	92364116	92364116	+	Splice_Site	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:92364116G>C	ENST00000276609.3	+	10	1457		c.e10+1		SLC26A7_ENST00000520249.1_Splice_Site|SLC26A7_ENST00000523719.1_Splice_Site|SLC26A7_ENST00000309536.2_Splice_Site	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCTGCCCATGGTACGGTAGTG	0.343																																						ENST00000276609.3		NA																	0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.e10+1		solute carrier family 26 (anion exchanger), member 7							190.0	172.0	178.0					8																	92364116		2203	4300	6503	SO:0001630	splice_region_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92364116G>C	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1218+1G>C	8.37:g.92364116G>C		False	False		Somatic	0				SLC26A7_ENST00000523719.1_Splice_Site|SLC26A7_ENST00000309536.2_Splice_Site|SLC26A7_ENST00000520249.1_Splice_Site		NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	WXS	Illumina HiSeq	Phase_I	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		10	1457	+			NA						Splice_Site	SNP	ENST00000276609.3	37		CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245791	0.59103	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.089	0.93219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A7	92433292	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	6.331000	0.72929	2.610000	0.88304	0.591000	0.81541	.		0.343	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1	0		Intron	8:92364116
CCNB3	85417	broad.mit.edu	37	X	50053963	50053963	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:50053963G>A	ENST00000376042.1	+	6	3092	c.2794G>A	c.(2794-2796)Gct>Act	p.A932T	CCNB3_ENST00000276014.7_Missense_Mutation_p.A932T|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	932					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGATATGATAGCTCTGAATGA	0.463																																						ENST00000376042.1		NA																	0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2794-2796)Gct>Act		cyclin B3							87.0	80.0	83.0					X																	50053963		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053963G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2794G>A	X.37:g.50053963G>A	ENSP00000365210:p.Ala932Thr	False	False		Somatic	0				CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A932T|CCNB3_ENST00000348603.2_Intron	p.A932T			WXS	Illumina HiSeq	Phase_I	Q8WWL7	CCNB3_HUMAN			6	3092	+	Ovarian(276;0.236)		932					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.2794G>A	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	7.231	0.599279	0.13939	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.21361	2.01;2.01	3.34	-0.792	0.10925	.	264.062000	0.00166	N	0.000000	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B	0.30584	0.286	B	0.21546	0.035	T	0.10268	-1.0637	9	.	.	.	.	2.7285	0.05220	0.2455:0.0:0.3704:0.3841	.	932	Q8WWL7	CCNB3_HUMAN	T	932	ENSP00000365210:A932T;ENSP00000276014:A932T	.	A	+	1	0	CCNB3	50070703	0.008000	0.16893	0.000000	0.03702	0.005000	0.04900	0.478000	0.22212	-0.326000	0.08564	-0.330000	0.08379	GCT		0.463	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1	0			X:50053963
EPB41L3	23136	broad.mit.edu	37	18	5424355	5424355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:5424355C>A	ENST00000341928.2	-	10	1409	c.1069G>T	c.(1069-1071)Gaa>Taa	p.E357*	EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	357	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCAAATTGTTCAAACTAAATA	0.323																																						ENST00000341928.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1069-1071)Gaa>Taa		erythrocyte membrane protein band 4.1-like 3							80.0	85.0	84.0					18																	5424355		2203	4300	6503	SO:0001587	stop_gained	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5424355C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1069G>T	18.37:g.5424355C>A	ENSP00000343158:p.Glu357*	True	False		Somatic	0				EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E357*	p.E357*	NM_012307.2	NP_036439.2	WXS	Illumina HiSeq	Phase_I	Q9Y2J2	E41L3_HUMAN			10	1409	-			357			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	c.1069G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	42	9.258930	0.99117	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	.	.	.	6.06	6.06	0.98353	.	0.129804	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.6186	0.99473	0.0:1.0:0.0:0.0	.	.	.	.	X	357;248;357;248;357;357	.	ENSP00000343158:E357X	E	-	1	0	EPB41L3	5414355	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.876000	0.98609	0.643000	0.83706	GAA		0.323	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	0	NM_012307		18:5424355
SERPINB12	89777	broad.mit.edu	37	18	61233928	61233928	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:61233928G>T	ENST00000269491.1	+	7	902	c.902G>T	c.(901-903)cGg>cTg	p.R301L	SERPINB12_ENST00000382768.1_Missense_Mutation_p.R321L	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	301					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCCTTCCCCCGGTTCACCCTG	0.448																																						ENST00000382768.1		NA																	0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(961-963)cGg>cTg		serpin peptidase inhibitor, clade B (ovalbumin), member 12							180.0	177.0	178.0					18																	61233928		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61233928G>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.902G>T	18.37:g.61233928G>T	ENSP00000269491:p.Arg301Leu	True	False		Somatic	0				SERPINB12_ENST00000269491.1_Missense_Mutation_p.R301L	p.R321L			WXS	Illumina HiSeq	Phase_I	Q96P63	SPB12_HUMAN			7	962	+			301					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.962G>T	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304108	0.40795	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84223	-1.82;-1.82	5.81	1.97	0.26223	Serpin domain (3);	0.299003	0.29246	N	0.012717	D	0.87111	0.6096	M	0.91872	3.25	0.09310	N	0.999998	P;B	0.37781	0.608;0.182	B;B	0.38655	0.278;0.098	T	0.80381	-0.1406	10	0.87932	D	0	.	10.0287	0.42087	0.5897:0.0:0.4103:0.0	.	321;301	Q3SYB4;Q96P63	.;SPB12_HUMAN	L	301;321	ENSP00000269491:R301L;ENSP00000372218:R321L	ENSP00000269491:R301L	R	+	2	0	SERPINB12	59384908	0.000000	0.05858	0.999000	0.59377	0.943000	0.58893	0.120000	0.15647	0.135000	0.18707	-0.290000	0.09829	CGG		0.448	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	0	NM_080474		18:61233928
KRT33B	3884	broad.mit.edu	37	17	39521158	39521158	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:39521158G>T	ENST00000251646.3	-	6	1019	c.970C>A	c.(970-972)Cag>Aag	p.Q324K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	324	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCGCCAGCTGGGACTCCACG	0.617																																						ENST00000251646.3		NA																	0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(970-972)Cag>Aag		keratin 33B							48.0	55.0	53.0					17																	39521158		2189	4296	6485	SO:0001583	missense	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521158G>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.970C>A	17.37:g.39521158G>T	ENSP00000251646:p.Gln324Lys	True	False		Somatic	0					p.Q324K	NM_002279.4	NP_002270.1	WXS	Illumina HiSeq	Phase_I	Q14525	KT33B_HUMAN			6	1019	-		Breast(137;0.000496)	324			Coil 2.|Rod.		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	c.970C>A	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	g	17.10	3.304063	0.60305	.	.	ENSG00000131738	ENST00000251646	D	0.89196	-2.48	4.29	4.29	0.51040	Filament (1);	0.000000	0.64402	D	0.000010	D	0.95544	0.8552	H	0.97023	3.925	0.32020	N	0.600921	D	0.55172	0.97	P	0.59012	0.85	D	0.95999	0.8992	10	0.87932	D	0	.	14.3715	0.66843	0.0:0.1494:0.8506:0.0	.	324	Q14525	KT33B_HUMAN	K	324	ENSP00000251646:Q324K	ENSP00000251646:Q324K	Q	-	1	0	KRT33B	36774684	0.605000	0.26941	0.960000	0.40013	0.526000	0.34562	0.833000	0.27504	2.666000	0.90696	0.650000	0.86243	CAG		0.617	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	0	NM_002279		17:39521158
ASPM	259266	broad.mit.edu	37	1	197062302	197062302	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:197062302G>T	ENST00000367409.4	-	21	9430	c.9174C>A	c.(9172-9174)atC>atA	p.I3058I	ASPM_ENST00000294732.7_Silent_p.I1473I|ASPM_ENST00000367408.1_Silent_p.I723I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3058	IQ 36. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTTTTGTATGATCAAAGCAG	0.383																																						ENST00000367409.4		NA																	0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9172-9174)atC>atA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							72.0	77.0	75.0					1																	197062302		2203	4299	6502	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197062302G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9174C>A	1.37:g.197062302G>T		False	False		Somatic	0				ASPM_ENST00000294732.7_Silent_p.I1473I|ASPM_ENST00000367408.1_Silent_p.I723I	p.I3058I	NM_018136.4	NP_060606.3	WXS	Illumina HiSeq	Phase_I	Q8IZT6	ASPM_HUMAN			21	9430	-			3058			IQ 36.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.9174C>A	CCDS1389.1																																																																																				0.383	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	NM_018136		1:197062302
NAALAD2	10003	broad.mit.edu	37	11	89914807	89914807	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:89914807G>T	ENST00000534061.1	+	17	2108	c.1878G>T	c.(1876-1878)gtG>gtT	p.V626V	NAALAD2_ENST00000321955.4_Silent_p.V593V|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	626					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCTGCTGTGAAAAACTTCT	0.318																																						ENST00000534061.1		NA																	0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(1876-1878)gtG>gtT		N-acetylated alpha-linked acidic dipeptidase 2							33.0	37.0	36.0					11																	89914807		2196	4290	6486	SO:0001819	synonymous_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89914807G>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1878G>T	11.37:g.89914807G>T		True	False		Somatic	0				NAALAD2_ENST00000321955.4_Silent_p.V593V|NAALAD2_ENST00000375944.3_Intron	p.V626V	NM_005467.3	NP_005458.1	WXS	Illumina HiSeq	Phase_I	Q9Y3Q0	NALD2_HUMAN			17	2108	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	626					B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	37	c.1878G>T	CCDS8288.1																																																																																				0.318	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	0	NM_005467		11:89914807
SCLT1	132320	broad.mit.edu	37	4	129873955	129873955	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:129873955C>A	ENST00000281142.5	-	14	1690	c.1187G>T	c.(1186-1188)cGa>cTa	p.R396L	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	396					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTCTGTTAATCGAGAAATTTG	0.264																																						ENST00000281142.5		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(1186-1188)cGa>cTa		sodium channel and clathrin linker 1							127.0	131.0	129.0					4																	129873955		2200	4295	6495	SO:0001583	missense	132320					centrosome		g.chr4:129873955C>A	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1187G>T	4.37:g.129873955C>A	ENSP00000281142:p.Arg396Leu	False	False		Somatic	0				SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR	p.R396L	NM_144643.2	NP_653244.2	WXS	Illumina HiSeq	Phase_I	Q96NL6	SCLT1_HUMAN			14	1690	-			396					A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.1187G>T	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507759	0.27036	.	.	ENSG00000151466	ENST00000281142	T	0.09723	2.95	4.49	-5.45	0.02616	.	0.539905	0.19485	N	0.113122	T	0.09069	0.0224	L	0.46157	1.445	0.20196	N	0.99992	P	0.43701	0.815	B	0.38985	0.287	T	0.01956	-1.1240	9	.	.	.	0.1314	15.4628	0.75373	0.0:0.2633:0.0:0.7367	.	396	Q96NL6	SCLT1_HUMAN	L	396	ENSP00000281142:R396L	.	R	-	2	0	SCLT1	130093405	0.001000	0.12720	0.000000	0.03702	0.636000	0.38137	-0.598000	0.05706	-1.407000	0.02043	-0.136000	0.14681	CGA		0.264	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	0	NM_144643		4:129873955
TMEM198	130612	broad.mit.edu	37	2	220412305	220412305	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:220412305C>A	ENST00000344458.2	+	4	829	c.244C>A	c.(244-246)Cga>Aga	p.R82R	RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Silent_p.R82R|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	82	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCTCTGCTACCGAGAGCGGGT	0.632																																						ENST00000344458.2		NA																	0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(244-246)Cga>Aga		transmembrane protein 198							245.0	240.0	242.0					2																	220412305		2203	4300	6503	SO:0001819	synonymous_variant	130612					integral to membrane		g.chr2:220412305C>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.244C>A	2.37:g.220412305C>A		False	False		Somatic	0				RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Silent_p.R82R	p.R82R			WXS	Illumina HiSeq	Phase_I	Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	829	+		Renal(207;0.0376)	82			Leu-rich.			Silent	SNP	ENST00000344458.2	37	c.244C>A	CCDS33385.1																																																																																				0.632	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	0	NM_001005209		2:220412305
FLG	2312	broad.mit.edu	37	1	152278046	152278046	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:152278046C>A	ENST00000368799.1	-	3	9351	c.9316G>T	c.(9316-9318)Ggt>Tgt	p.G3106C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3106	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)			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)			GTGTCCTGACCGTATTGGGAT	0.597									Ichthyosis																													ENST00000368799.1		NA																	0				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.(9316-9318)Ggt>Tgt		filaggrin							195.0	253.0	235.0					1																	152278046		1968	4219	6187	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.chr1:152278046C>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.9316G>T	1.37:g.152278046C>A	ENSP00000357789:p.Gly3106Cys	False	False		Somatic	0				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G3106C	NM_002016.1	NP_002007.1	WXS	Illumina HiSeq	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9351	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3106			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9316G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393587	0.25205	.	.	ENSG00000143631	ENST00000368799	T	0.07800	3.16	4.17	-3.75	0.04372	.	.	.	.	.	T	0.05181	0.0138	M	0.77616	2.38	0.09310	N	1	D	0.60575	0.988	P	0.45639	0.488	T	0.18777	-1.0326	9	0.56958	D	0.05	.	8.0889	0.30788	0.0:0.2914:0.5653:0.1432	.	3106	P20930	FILA_HUMAN	C	3106	ENSP00000357789:G3106C	ENSP00000357789:G3106C	G	-	1	0	FLG	150544670	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.414000	0.07114	-0.500000	0.06614	0.449000	0.29647	GGT		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	NM_002016		1:152278046
SRBD1	55133	broad.mit.edu	37	2	45826684	45826684	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:45826684G>T	ENST00000263736.4	-	4	614	c.552C>A	c.(550-552)atC>atA	p.I184I		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	184					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCTCAGTCTTGATTTTCTTTA	0.448																																						ENST00000263736.4		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(550-552)atC>atA		S1 RNA binding domain 1							254.0	243.0	247.0					2																	45826684		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45826684G>T	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.552C>A	2.37:g.45826684G>T		False	False		Somatic	0					p.I184I	NM_018079.4	NP_060549.4	WXS	Illumina HiSeq	Phase_I	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		4	614	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	184					Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.552C>A	CCDS1823.1																																																																																				0.448	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	0	NM_018079		2:45826684
AMPH	273	broad.mit.edu	37	7	38471789	38471789	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:38471789C>T	ENST00000356264.2	-	13	1373	c.1158G>A	c.(1156-1158)acG>acA	p.T386T	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Splice_Site_p.T386T|AMPH_ENST00000325590.5_Splice_Site_p.T386T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	386					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.T386T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGTGGCTTACCGTCCATAGGT	0.323																																						ENST00000356264.2		NA																	1	Substitution - coding silent(1)	p.T386T(1)	upper_aerodigestive_tract(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1156-1158)acG>acA		amphiphysin							106.0	108.0	108.0					7																	38471789		2203	4300	6503	SO:0001630	splice_region_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38471789C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1158+1G>A	7.37:g.38471789C>T		False	False		Somatic	0				AMPH_ENST00000428293.2_Splice_Site_p.T386T|AMPH_ENST00000325590.5_Splice_Site_p.T386T	p.T386T	NM_001635.3	NP_001626.1	WXS	Illumina HiSeq	Phase_I	P49418	AMPH_HUMAN			13	1373	-			386					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Splice_Site	SNP	ENST00000356264.2	37	c.1158G>A	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409493	0.42715	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.55	4.67	0.58626	.	.	.	.	.	T	0.70168	0.3193	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69250	-0.5194	4	.	.	.	-16.0735	14.2603	0.66080	0.0:0.9282:0.0:0.0718	.	.	.	.	N	137	.	.	D	-	1	0	AMPH	38438314	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.749000	0.47492	1.336000	0.45506	0.655000	0.94253	GAC		0.323	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	0	NM_001635	Silent	7:38471789
SPANXN2	494119	broad.mit.edu	37	X	142803706	142803706	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:142803706G>T	ENST00000370498.1	-	1	810	c.57C>A	c.(55-57)tcC>tcA	p.S19S		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	19										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGTTATTGGATTCACAGG	0.443																																						ENST00000370498.1		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(55-57)tcC>tcA		SPANX family, member N2							239.0	224.0	229.0					X																	142803706		2203	4300	6503	SO:0001819	synonymous_variant	494119							g.chrX:142803706G>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.57C>A	X.37:g.142803706G>T		False	False		Somatic	0					p.S19S	NM_001009615.1	NP_001009615.1	WXS	Illumina HiSeq	Phase_I	Q5MJ10	SPXN2_HUMAN			1	810	-	Acute lymphoblastic leukemia(192;6.56e-05)		19					Q0ZNM2	Silent	SNP	ENST00000370498.1	37	c.57C>A	CCDS35419.1																																																																																				0.443	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	0	NM_001009615		X:142803706
NEUROD6	63974	broad.mit.edu	37	7	31378601	31378601	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:31378601G>T	ENST00000297142.3	-	2	604	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	94	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	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(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCTGTCTCCTGAACTTGACCC	0.498																																						ENST00000297142.3		NA																	0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(280-282)ttC>ttA		neuronal differentiation 6							258.0	253.0	255.0					7																	31378601		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378601G>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.282C>A	7.37:g.31378601G>T	ENSP00000297142:p.Phe94Leu	False	False		Somatic	0					p.F94L	NM_022728.2	NP_073565.2	WXS	Illumina HiSeq	Phase_I	Q96NK8	NDF6_HUMAN			2	604	-			94					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.282C>A	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	1.495	-0.553653	0.03996	.	.	ENSG00000164600	ENST00000297142	D	0.94576	-3.46	5.46	5.46	0.80206	Helix-loop-helix DNA-binding (1);	0.108239	0.64402	D	0.000011	D	0.86070	0.5845	N	0.11064	0.09	0.41174	D	0.98618	B	0.02656	0.0	B	0.01281	0.0	T	0.81263	-0.1012	10	0.06891	T	0.86	-22.1205	14.1906	0.65635	0.0:0.0:0.8505:0.1495	.	94	Q96NK8	NDF6_HUMAN	L	94	ENSP00000297142:F94L	ENSP00000297142:F94L	F	-	3	2	NEUROD6	31345126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.206000	0.51098	2.569000	0.86673	0.650000	0.86243	TTC		0.498	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	0	NM_022728		7:31378601
ZNF14	7561	broad.mit.edu	37	19	19823005	19823005	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:19823005G>T	ENST00000344099.3	-	4	1223	c.1085C>A	c.(1084-1086)cCa>cAa	p.P362Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	362					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)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				ACATTCATATGGTTTTTCTCC	0.393																																						ENST00000344099.3		NA																	0				breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(1084-1086)cCa>cAa		zinc finger protein 14							81.0	81.0	81.0					19																	19823005		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19823005G>T	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1085C>A	19.37:g.19823005G>T	ENSP00000340514:p.Pro362Gln	False	False		Somatic	0					p.P362Q	NM_021030.2	NP_066358.2	WXS	Illumina HiSeq	Phase_I	P17017	ZNF14_HUMAN			4	1223	-		Renal(1328;0.0474)	362					B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.1085C>A	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448100	0.63178	.	.	ENSG00000105708	ENST00000344099	T	0.17213	2.29	1.86	0.672	0.17935	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40979	0.1139	M	0.86028	2.79	0.24605	N	0.993751	D	0.89917	1.0	D	0.76575	0.988	T	0.14062	-1.0486	9	0.87932	D	0	.	7.6356	0.28264	0.0:0.2677:0.7323:0.0	.	362	P17017	ZNF14_HUMAN	Q	362	ENSP00000340514:P362Q	ENSP00000340514:P362Q	P	-	2	0	ZNF14	19684005	0.060000	0.20803	0.200000	0.23457	0.719000	0.41307	0.746000	0.26275	0.084000	0.17077	0.467000	0.42956	CCA		0.393	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	0	NM_021030		19:19823005
ZNF610	162963	broad.mit.edu	37	19	52857575	52857575	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:52857575C>A	ENST00000403906.3	+	5	718	c.262C>A	c.(262-264)Caa>Aaa	p.Q88K	ZNF610_ENST00000321287.8_Missense_Mutation_p.Q88K|ZNF610_ENST00000601151.1_Intron|ZNF610_ENST00000327920.8_Missense_Mutation_p.Q88K	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	88	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TCTGCAAAGTCAAGTTAAAAT	0.378																																						ENST00000403906.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(262-264)Caa>Aaa		zinc finger protein 610							81.0	84.0	83.0					19																	52857575		2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52857575C>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.262C>A	19.37:g.52857575C>A	ENSP00000383922:p.Gln88Lys	False	False		Somatic	0				ZNF610_ENST00000601151.1_Intron|ZNF610_ENST00000321287.8_Missense_Mutation_p.Q88K|ZNF610_ENST00000327920.8_Missense_Mutation_p.Q88K	p.Q88K	NM_001161425.1	NP_001154897.1	WXS	Illumina HiSeq	Phase_I	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	718	+			88			KRAB.		A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.262C>A	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	C	0.187	-1.056483	0.01965	.	.	ENSG00000167554	ENST00000403906;ENST00000327920	T;T	0.04809	3.55;3.55	1.21	-2.43	0.06522	Krueppel-associated box (1);	.	.	.	.	T	0.01976	0.0062	N	0.04820	-0.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46978	-0.9152	9	0.20519	T	0.43	.	3.921	0.09244	0.2004:0.5011:0.2985:0.0	.	88	Q8N9Z0	ZN610_HUMAN	K	88	ENSP00000383922:Q88K;ENSP00000327597:Q88K	ENSP00000327597:Q88K	Q	+	1	0	ZNF610	57549387	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.922000	0.04004	-0.998000	0.03446	-1.241000	0.01538	CAA		0.378	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	0	NM_173530		19:52857575
PRDM2	7799	broad.mit.edu	37	1	14108532	14108532	+	Silent	SNP	G	G	T	rs559689099		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:14108532G>T	ENST00000235372.7	+	8	5098	c.4242G>T	c.(4240-4242)tcG>tcT	p.S1414S	PRDM2_ENST00000413440.1_Silent_p.S1213S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Silent_p.S1414S|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.S1213S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1414	Arg/Lys-rich (basic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAATGTCGTCGAATAAGCTCA	0.393																																						ENST00000235372.7		NA																	0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(4240-4242)tcG>tcT		PR domain containing 2, with ZNF domain							69.0	75.0	73.0					1																	14108532		2203	4300	6503	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108532G>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4242G>T	1.37:g.14108532G>T		False	False		Somatic	0				PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Silent_p.S1213S|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Silent_p.S1414S|PRDM2_ENST00000413440.1_Silent_p.S1213S|PRDM2_ENST00000503842.1_Intron	p.S1414S	NM_012231.4	NP_036363.2	WXS	Illumina HiSeq	Phase_I	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	5098	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1414			Arg/Lys-rich (basic).		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.4242G>T	CCDS150.1																																																																																				0.393	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	0	NM_012231		1:14108532
ATPAF1	64756	broad.mit.edu	37	1	47101584	47101584	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:47101584C>A	ENST00000371937.4	-	9	955	c.851G>T	c.(850-852)cGg>cTg	p.R284L	ATPAF1_ENST00000574428.1_Missense_Mutation_p.R216L|ATPAF1_ENST00000329231.4_Missense_Mutation_p.R239L|ATPAF1_ENST00000576409.1_Missense_Mutation_p.R307L|ATPAF1_ENST00000532925.1_Missense_Mutation_p.R196L|ATPAF1_ENST00000542495.1_Missense_Mutation_p.R133L	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	284					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GGTCTCTTTCCGATCAGTAGC	0.458																																					Melanoma(138;107 1777 21672 30337 52312)	ENST00000576409.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(919-921)cGg>cTg		ATP synthase mitochondrial F1 complex assembly factor 1							219.0	218.0	219.0					1																	47101584		2203	4300	6503	SO:0001583	missense	64756				protein complex assembly	mitochondrion	protein binding	g.chr1:47101584C>A	AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"""Mitochondrial respiratory chain complex assembly factors"""	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.851G>T	1.37:g.47101584C>A	ENSP00000361005:p.Arg284Leu	False	False		Somatic	0				ATPAF1_ENST00000574428.1_Missense_Mutation_p.R216L|ATPAF1_ENST00000542495.1_Missense_Mutation_p.R133L|ATPAF1_ENST00000329231.4_Missense_Mutation_p.R239L|ATPAF1_ENST00000532925.1_Missense_Mutation_p.R196L|ATPAF1_ENST00000371937.4_Missense_Mutation_p.R284L	p.R307L			WXS	Illumina HiSeq	Phase_I	Q5TC12	ATPF1_HUMAN			9	982	-	Acute lymphoblastic leukemia(166;0.155)		284					B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	ENST00000371937.4	37	c.920G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.21|16.21	3.059769|3.059769	0.55325|0.55325	.|.	.|.	ENSG00000123472|ENSG00000123472	ENST00000534216|ENST00000371937;ENST00000492233;ENST00000526821;ENST00000542495;ENST00000329231;ENST00000532925	.|T	.|0.46063	.|0.88	6.02|6.02	4.17|4.17	0.49024|0.49024	.|.	.|0.145674	.|0.64402	.|D	.|0.000009	.|T	.|0.54415	.|0.1857	M|M	0.68952|0.68952	2.095|2.095	0.48341|0.48341	D|D	0.999639|0.999639	.|P;D;P	.|0.71674	.|0.867;0.998;0.943	.|P;D;P	.|0.71870	.|0.483;0.975;0.718	.|T	.|0.58451	.|-0.7634	.|10	.|0.02654	.|T	.|1	-10.3176|-10.3176	12.6294|12.6294	0.56649|0.56649	0.0:0.8673:0.0:0.1327|0.0:0.8673:0.0:0.1327	.|.	.|196;216;284	.|B7Z7I6;A8MRA7;Q5TC12	.|.;.;ATPF1_HUMAN	X|L	139|284;88;130;133;216;196	.|ENSP00000361005:R284L	.|ENSP00000330685:R216L	G|R	-|-	1|2	0|0	ATPAF1|ATPAF1	46874171|46874171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.569000|5.569000	0.67391|0.67391	0.885000|0.885000	0.36088|0.36088	-0.145000|-0.145000	0.13849|0.13849	GGA|CGG		0.458	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		0	NM_022745		1:47101584
VCPIP1	80124	broad.mit.edu	37	8	67577279	67577279	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:67577279C>A	ENST00000310421.4	-	1	2173	c.1915G>T	c.(1915-1917)Ggg>Tgg	p.G639W	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	639					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATTTCACTCCCAAATTCACCT	0.363																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4		NA																	0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1915-1917)Ggg>Tgg		valosin containing protein (p97)/p47 complex interacting protein 1							139.0	146.0	144.0					8																	67577279		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577279C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1915G>T	8.37:g.67577279C>A	ENSP00000309031:p.Gly639Trp	True	False		Somatic	0					p.G639W	NM_025054.4	NP_079330.2	WXS	Illumina HiSeq	Phase_I	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	2173	-		Lung NSC(129;0.142)|all_lung(136;0.227)	639					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.1915G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188916	0.57909	.	.	ENSG00000175073	ENST00000310421	T	0.49720	0.77	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.68183	0.2973	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70676	-0.4806	10	0.87932	D	0	-9.9769	19.2059	0.93729	0.0:1.0:0.0:0.0	.	639	Q96JH7	VCIP1_HUMAN	W	639	ENSP00000309031:G639W	ENSP00000309031:G639W	G	-	1	0	VCPIP1	67739833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.587000	0.87381	0.655000	0.94253	GGG		0.363	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1	0			8:67577279
SNHG14	104472715	broad.mit.edu	37	15	25327982	25327982	+	RNA	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:25327982C>A	ENST00000546682.1	+	0	188				SNORD116-16_ENST00000384533.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNORD116-14_ENST00000383894.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-15_ENST00000384445.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		AACTCTATACCGTCATCCTCG	0.468																																						ENST00000546682.1		NA																	0					NA															284.0	237.0	252.0					15																	25327982		876	1989	2865			0							g.chr15:25327982C>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25327982C>A		False	False		Somatic	0				SNORD116-16_ENST00000384533.1_RNA|SNHG14_ENST00000549804.2_RNA		NR_003361.1		WXS	Illumina HiSeq	Phase_I					0	188	+			NA						RNA	SNP	ENST00000546682.1	37																																																																																						0.468	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1	0			15:25327982
EBAG9	9166	broad.mit.edu	37	8	110576764	110576764	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:110576764C>A	ENST00000337573.5	+	7	918	c.618C>A	c.(616-618)aaC>aaA	p.N206K	EBAG9_ENST00000395785.2_Missense_Mutation_p.N206K|EBAG9_ENST00000531677.1_Missense_Mutation_p.N251K	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	206					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			AGGAACAAAACAAAATTGGTG	0.388																																						ENST00000337573.5		NA																	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(616-618)aaC>aaA		estrogen receptor binding site associated, antigen, 9							135.0	135.0	135.0					8																	110576764		2203	4300	6503	SO:0001583	missense	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110576764C>A	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.618C>A	8.37:g.110576764C>A	ENSP00000337675:p.Asn206Lys	True	False		Somatic	0				EBAG9_ENST00000395785.2_Missense_Mutation_p.N206K|EBAG9_ENST00000531677.1_Missense_Mutation_p.N251K	p.N206K	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	WXS	Illumina HiSeq	Phase_I	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		7	918	+			206					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.618C>A	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926951	0.52759	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000531677	.	.	.	5.52	1.68	0.24146	.	0.215116	0.40728	N	0.001032	T	0.32071	0.0817	N	0.19112	0.55	0.42409	D	0.992594	B	0.33238	0.403	B	0.22601	0.04	T	0.05971	-1.0853	9	0.31617	T	0.26	-24.8557	12.9693	0.58503	0.0:0.7392:0.0:0.2608	.	206	O00559	RCAS1_HUMAN	K	206;206;251	.	ENSP00000337675:N206K	N	+	3	2	EBAG9	110645940	0.037000	0.19845	0.991000	0.47740	0.958000	0.62258	0.178000	0.16820	0.110000	0.17919	-0.797000	0.03246	AAC		0.388	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	0	NM_004215		8:110576764
SCN9A	6335	broad.mit.edu	37	2	167083091	167083091	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:167083091G>T	ENST00000409435.1	-	23	4383	c.4384C>A	c.(4384-4386)Caa>Aaa	p.Q1462K	SCN9A_ENST00000375387.4_Missense_Mutation_p.Q1463K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q1463K|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q1451K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1462					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTTCTGTTGGTTGAAATTA	0.264																																						ENST00000303354.6		NA																	0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(4387-4389)Caa>Aaa		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						42.0	42.0	42.0					2																	167083091		2080	4252	6332	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167083091G>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4384C>A	2.37:g.167083091G>T	ENSP00000386330:p.Gln1462Lys	True	False		Somatic	0				SCN9A_ENST00000409435.1_Missense_Mutation_p.Q1462K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q1451K|SCN9A_ENST00000375387.4_Missense_Mutation_p.Q1463K	p.Q1463K			WXS	Illumina HiSeq	Phase_I	Q15858	SCN9A_HUMAN			24	4727	-			1462					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4387C>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628730	0.87560	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000002	D	0.97895	0.9308	M	0.80847	2.515	0.80722	D	1	D	0.61697	0.99	P	0.60541	0.876	D	0.98554	1.0638	10	0.87932	D	0	.	19.3055	0.94161	0.0:0.0:1.0:0.0	.	1451	E7EUN6	.	K	1451;1463;1463;1462	ENSP00000386306:Q1451K;ENSP00000364536:Q1463K;ENSP00000304748:Q1463K;ENSP00000386330:Q1462K	ENSP00000304748:Q1463K	Q	-	1	0	SCN9A	166791337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.960000	0.87893	2.559000	0.86315	0.591000	0.81541	CAA		0.264	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	0	NM_002977		2:167083091
LPAR1	1902	broad.mit.edu	37	9	113703751	113703751	+	Missense_Mutation	SNP	C	C	A	rs569190522		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:113703751C>A	ENST00000374431.3	-	4	1126	c.743G>T	c.(742-744)cGg>cTg	p.R248L	LPAR1_ENST00000358883.4_Missense_Mutation_p.R248L|LPAR1_ENST00000541779.1_Missense_Mutation_p.R249L|LPAR1_ENST00000374430.2_Missense_Mutation_p.R248L|LPAR1_ENST00000538760.1_Missense_Mutation_p.R249L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	248					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATCCCGATTCCGCCGGGGTCC	0.453																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(742-744)cGg>cTg		lysophosphatidic acid receptor 1							84.0	85.0	84.0					9																	113703751		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113703751C>A	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.743G>T	9.37:g.113703751C>A	ENSP00000363553:p.Arg248Leu	False	False		Somatic	0				LPAR1_ENST00000541779.1_Missense_Mutation_p.R249L|LPAR1_ENST00000538760.1_Missense_Mutation_p.R249L|LPAR1_ENST00000358883.4_Missense_Mutation_p.R248L|LPAR1_ENST00000374430.2_Missense_Mutation_p.R248L	p.R248L	NM_057159.2	NP_476500.1	WXS	Illumina HiSeq	Phase_I	Q92633	LPAR1_HUMAN			4	1126	-			248					B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.743G>T	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229298	0.79688	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.86953	2.85	0.58432	D	0.999999	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.71414	0.973;0.924;0.973	T	0.73004	-0.4119	10	0.87932	D	0	.	17.708	0.88314	0.0:1.0:0.0:0.0	.	249;249;248	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	L	248;249;248;248;230;249	ENSP00000363553:R248L;ENSP00000445697:R249L;ENSP00000363552:R248L;ENSP00000351755:R248L;ENSP00000440201:R249L	ENSP00000351755:R248L	R	-	2	0	LPAR1	112743572	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	6.089000	0.71384	2.437000	0.82529	0.563000	0.77884	CGG		0.453	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	0	NM_057159		9:113703751
LYST	1130	broad.mit.edu	37	1	235866228	235866228	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:235866228C>A	ENST00000389794.3	-	45	10367	c.10193G>T	c.(10192-10194)cGa>cTa	p.R3398L	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3398L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3398	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTAGCGCTCGTCTCTGAAC	0.453																																						ENST00000389794.3		NA																	0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(10192-10194)cGa>cTa		lysosomal trafficking regulator							139.0	141.0	140.0					1																	235866228		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235866228C>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10193G>T	1.37:g.235866228C>A	ENSP00000374444:p.Arg3398Leu	False	False		Somatic	0				LYST_ENST00000389793.2_Missense_Mutation_p.R3398L|LYST_ENST00000473037.1_5'UTR	p.R3398L			WXS	Illumina HiSeq	Phase_I	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		45	10367	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3398			BEACH.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10193G>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384645	0.61845	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.80123	-1.34;-1.34	5.52	5.52	0.82312	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.83464	0.5260	N	0.21583	0.68	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.85655	0.1285	10	0.72032	D	0.01	.	19.4447	0.94841	0.0:1.0:0.0:0.0	.	3398	Q99698	LYST_HUMAN	L	3398	ENSP00000374444:R3398L;ENSP00000374443:R3398L	ENSP00000374443:R3398L	R	-	2	0	LYST	233932851	1.000000	0.71417	0.557000	0.28306	0.141000	0.21300	7.487000	0.81328	2.608000	0.88229	0.491000	0.48974	CGA		0.453	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	0			1:235866228
MTUS1	57509	broad.mit.edu	37	8	17570754	17570754	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:17570754C>A	ENST00000262102.6	-	6	2816	c.2592G>T	c.(2590-2592)tcG>tcT	p.S864S	MTUS1_ENST00000381861.3_Silent_p.S111S|MTUS1_ENST00000381869.3_Silent_p.S810S|MTUS1_ENST00000544260.1_Silent_p.S9S|MTUS1_ENST00000519263.1_Silent_p.S810S	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	864					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AATTTTTTCTCGAAGGACCTA	0.264																																						ENST00000381869.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(2428-2430)tcG>tcT		microtubule associated tumor suppressor 1							93.0	94.0	94.0					8																	17570754		1813	4068	5881	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17570754C>A	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2592G>T	8.37:g.17570754C>A		False	False		Somatic	0				MTUS1_ENST00000544260.1_Silent_p.S9S|MTUS1_ENST00000262102.6_Silent_p.S864S|MTUS1_ENST00000519263.1_Silent_p.S810S|MTUS1_ENST00000381861.3_Silent_p.S111S	p.S810S	NM_001001925.2	NP_001001925.1	WXS	Illumina HiSeq	Phase_I	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	5	2903	-			864					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.2430G>T	CCDS43717.1																																																																																				0.264	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	0	XM_372031		8:17570754
PRCP	5547	broad.mit.edu	37	11	82549486	82549486	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:82549486C>A	ENST00000313010.3	-	8	1411	c.1217G>T	c.(1216-1218)tGg>tTg	p.W406L	PRCP_ENST00000393399.2_Missense_Mutation_p.W427L|PRCP_ENST00000535099.1_Missense_Mutation_p.W301L|PRCP_ENST00000525772.1_5'UTR	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	406					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGTAGTGATCCAGGAGGGCCT	0.413																																						ENST00000313010.3		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(1216-1218)tGg>tTg		prolylcarboxypeptidase (angiotensinase C)							139.0	125.0	130.0					11																	82549486		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82549486C>A	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1217G>T	11.37:g.82549486C>A	ENSP00000317362:p.Trp406Leu	False	False		Somatic	0				PRCP_ENST00000393399.2_Missense_Mutation_p.W427L|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000535099.1_Missense_Mutation_p.W301L	p.W406L	NM_005040.2	NP_005031.1	WXS	Illumina HiSeq	Phase_I	P42785	PCP_HUMAN			8	1411	-			406					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.1217G>T	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933134	0.73442	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	D;D;D	0.91180	-2.8;-2.8;-2.8	6.06	6.06	0.98353	.	0.056069	0.85682	D	0.000000	D	0.93288	0.7861	M	0.81614	2.55	0.80722	D	1	P;B	0.49090	0.919;0.356	P;P	0.47827	0.558;0.477	D	0.92488	0.5998	9	.	.	.	-9.9724	20.6208	0.99490	0.0:1.0:0.0:0.0	.	406;427	P42785;A8MU24	PCP_HUMAN;.	L	406;427;301	ENSP00000317362:W406L;ENSP00000377055:W427L;ENSP00000442077:W301L	.	W	-	2	0	PRCP	82227134	1.000000	0.71417	0.988000	0.46212	0.964000	0.63967	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	TGG		0.413	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	0	NM_005040		11:82549486
SUGT1	10910	broad.mit.edu	37	13	53231718	53231718	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:53231718C>A	ENST00000343788.6	+	3	230	c.148C>A	c.(148-150)Caa>Aaa	p.Q50K	SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000310528.8_Missense_Mutation_p.Q50K|SUGT1_ENST00000535397.1_5'UTR	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	50					innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GTATTATTGTCAAAGAGCTTA	0.353																																						ENST00000310528.8		NA																	0				kidney(3)|large_intestine(3)|lung(2)	8						c.(148-150)Caa>Aaa		SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)							106.0	93.0	97.0					13																	53231718		2203	4300	6503	SO:0001583	missense	10910				mitosis	kinetochore|ubiquitin ligase complex	binding	g.chr13:53231718C>A	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.148C>A	13.37:g.53231718C>A	ENSP00000367208:p.Gln50Lys	True	False		Somatic	0				SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.Q50K|SUGT1_ENST00000483074.1_3'UTR	p.Q50K			WXS	Illumina HiSeq	Phase_I	Q9Y2Z0	SUGT1_HUMAN		GBM - Glioblastoma multiforme(99;3.25e-08)	3	203	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	NA					A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	c.148C>A	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383544	0.42207	.	.	ENSG00000165416	ENST00000343788;ENST00000310528	T;T	0.59364	0.27;0.27	4.21	4.21	0.49690	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.059373	0.64402	D	0.000002	T	0.43433	0.1247	N	0.21508	0.67	0.80722	D	1	P;P	0.36599	0.56;0.459	B;B	0.40659	0.336;0.175	T	0.37079	-0.9721	10	0.02654	T	1	-2.4714	15.6949	0.77488	0.0:1.0:0.0:0.0	.	50;50	Q9Y2Z0;Q9Y2Z0-2	SUGT1_HUMAN;.	K	50	ENSP00000367208:Q50K;ENSP00000308067:Q50K	ENSP00000308067:Q50K	Q	+	1	0	SUGT1	52129719	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.484000	0.66844	2.047000	0.60756	0.467000	0.42956	CAA		0.353	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2	0			13:53231718
PCBP3	54039	broad.mit.edu	37	21	47359992	47359992	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:47359992C>A	ENST00000400314.1	+	15	1296	c.958C>A	c.(958-960)Cga>Aga	p.R320R	PCBP3_ENST00000400304.1_Silent_p.R310R|PCBP3_ENST00000400310.1_Silent_p.R300R|PCBP3_ENST00000400308.1_Silent_p.R294R|PCBP3_ENST00000400309.1_Silent_p.R319R|PCBP3_ENST00000449640.1_Silent_p.R320R			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	320	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAATGAAATTCGACAGATGTC	0.537																																						ENST00000400314.1		NA																	0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(958-960)Cga>Aga		poly(rC) binding protein 3							73.0	78.0	77.0					21																	47359992		2062	4217	6279	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47359992C>A	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.958C>A	21.37:g.47359992C>A		False	False		Somatic	0				PCBP3_ENST00000400310.1_Silent_p.R300R|PCBP3_ENST00000449640.1_Silent_p.R320R|PCBP3_ENST00000400304.1_Silent_p.R310R|PCBP3_ENST00000400309.1_Silent_p.R319R|PCBP3_ENST00000400308.1_Silent_p.R294R	p.R320R			WXS	Illumina HiSeq	Phase_I	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	15	1296	+	all_hematologic(128;0.24)		320			KH 3.		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.958C>A	CCDS42974.2																																																																																				0.537	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2	0			21:47359992
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3		NA																PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79.0	76.0	77.0					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu	True	False		Somatic	0				TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	p.Q565L	NM_001017395.3	NP_001017395.2	WXS	Illumina HiSeq	Phase_I	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	0	NM_015008		3:129370592
SRCIN1	80725	broad.mit.edu	37	17	36708223	36708223	+	Missense_Mutation	SNP	C	C	T	rs533940451		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:36708223C>T	ENST00000264659.7	-	14	2850	c.2626G>A	c.(2626-2628)Ggg>Agg	p.G876R	SRCIN1_ENST00000578925.1_Missense_Mutation_p.G910R|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	748	Pro-rich.				exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCAGCTGGCCCGCTCAGCTCA	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16597	0.0		0.0	False		,,,				2504	0.0					ENST00000264659.7		NA																	0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(2626-2628)Ggg>Agg		SRC kinase signaling inhibitor 1							37.0	43.0	41.0					17																	36708223		1921	4117	6038	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36708223C>T		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2626G>A	17.37:g.36708223C>T	ENSP00000264659:p.Gly876Arg	True	False		Somatic	0				SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.G910R	p.G876R	NM_025248.2	NP_079524.2	WXS	Illumina HiSeq	Phase_I	Q9C0H9	SRCN1_HUMAN			14	2850	-			748			Pro-rich.		Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.2626G>A	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413836	0.62511	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.46451	0.87	4.69	4.69	0.59074	.	0.232419	0.43260	D	0.000583	T	0.52403	0.1732	L	0.43152	1.355	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.993;0.993;0.993	P;P;P;P	0.58266	0.836;0.677;0.677;0.677	T	0.52132	-0.8616	10	0.51188	T	0.08	-29.8471	16.9082	0.86133	0.0:1.0:0.0:0.0	.	182;748;748;876	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	R	876;657;730	ENSP00000264659:G876R	ENSP00000264659:G876R	G	-	1	0	SRCIN1	33961749	0.740000	0.28207	0.745000	0.31077	0.073000	0.16967	2.370000	0.44240	2.606000	0.88127	0.561000	0.74099	GGG		0.602	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	0	NM_025248		17:36708223
AHNAK	79026	broad.mit.edu	37	11	62297572	62297572	+	Missense_Mutation	SNP	G	G	T	rs141288622	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:62297572G>T	ENST00000378024.4	-	5	4591	c.4317C>A	c.(4315-4317)ttC>ttA	p.F1439L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1439					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGCATCTTGAATTTGGGAC	0.403																																						ENST00000378024.4		NA																	0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4315-4317)ttC>ttA		AHNAK nucleoprotein							204.0	213.0	210.0					11																	62297572		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297572G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4317C>A	11.37:g.62297572G>T	ENSP00000367263:p.Phe1439Leu	False	False		Somatic	0				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.F1439L	NM_001620.1	NP_001611.1	WXS	Illumina HiSeq	Phase_I	Q09666	AHNK_HUMAN			5	4591	-		Melanoma(852;0.155)	1439					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4317C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	9.761	1.170168	0.21621	.	.	ENSG00000124942	ENST00000378024	T	0.11821	2.74	4.32	-2.06	0.07298	.	.	.	.	.	T	0.24890	0.0604	M	0.76170	2.325	0.33910	D	0.639632	D	0.61697	0.99	P	0.59424	0.857	T	0.45469	-0.9259	9	0.10377	T	0.69	.	11.3291	0.49467	0.4092:0.0:0.5908:0.0	.	1439	Q09666	AHNK_HUMAN	L	1439	ENSP00000367263:F1439L	ENSP00000367263:F1439L	F	-	3	2	AHNAK	62054148	0.032000	0.19561	0.851000	0.33527	0.106000	0.19336	-0.846000	0.04336	-0.357000	0.08175	-0.387000	0.06579	TTC		0.403	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	0	NM_024060		11:62297572
FLNB	2317	broad.mit.edu	37	3	58108948	58108948	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:58108948C>A	ENST00000295956.4	+	21	3420	c.3255C>A	c.(3253-3255)atC>atA	p.I1085I	FLNB_ENST00000419752.2_Silent_p.I916I|FLNB_ENST00000493452.1_Silent_p.I916I|FLNB_ENST00000490882.1_Silent_p.I1085I|FLNB_ENST00000358537.3_Silent_p.I1085I|FLNB_ENST00000357272.4_Silent_p.I1085I|FLNB_ENST00000348383.5_Silent_p.I1085I|FLNB_ENST00000429972.2_Silent_p.I1085I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1085					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGCCAAAATCGAGTGCTCCG	0.552																																						ENST00000357272.4		NA																	0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(3253-3255)atC>atA		filamin B, beta							162.0	146.0	151.0					3																	58108948		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58108948C>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3255C>A	3.37:g.58108948C>A		False	False		Somatic	0				FLNB_ENST00000419752.2_Silent_p.I916I|FLNB_ENST00000295956.4_Silent_p.I1085I|FLNB_ENST00000429972.2_Silent_p.I1085I|FLNB_ENST00000358537.3_Silent_p.I1085I|FLNB_ENST00000348383.5_Silent_p.I1085I|FLNB_ENST00000493452.1_Silent_p.I916I|FLNB_ENST00000490882.1_Silent_p.I1085I	p.I1085I			WXS	Illumina HiSeq	Phase_I	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	21	3420	+			1085					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.3255C>A	CCDS2885.1																																																																																				0.552	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	0	NM_001457		3:58108948
ADAMTS1	9510	broad.mit.edu	37	21	28212612	28212612	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:28212612C>A	ENST00000284984.3	-	5	2102	c.1648G>T	c.(1648-1650)Gac>Tac	p.D550Y		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	550	Disintegrin.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGCTTTCTGTCGGTTTTGTTC	0.433																																						ENST00000284984.3		NA																	0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(1648-1650)Gac>Tac		ADAM metallopeptidase with thrombospondin type 1 motif, 1							101.0	95.0	97.0					21																	28212612		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28212612C>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1648G>T	21.37:g.28212612C>A	ENSP00000284984:p.Asp550Tyr	False	False		Somatic	0					p.D550Y	NM_006988.3	NP_008919.3	WXS	Illumina HiSeq	Phase_I	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	5	2102	-		Breast(209;0.000962)	NA			Disintegrin.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1648G>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.649884	0.87958	.	.	ENSG00000154734	ENST00000284984	T	0.63744	-0.06	5.13	5.13	0.70059	.	.	.	.	.	T	0.73489	0.3593	L	0.58302	1.8	0.80722	D	1	D	0.55605	0.972	P	0.57152	0.814	T	0.75534	-0.3284	9	0.72032	D	0.01	.	19.128	0.93393	0.0:1.0:0.0:0.0	.	550	Q9UHI8	ATS1_HUMAN	Y	550	ENSP00000284984:D550Y	ENSP00000284984:D550Y	D	-	1	0	ADAMTS1	27134483	0.993000	0.37304	0.987000	0.45799	0.985000	0.73830	2.920000	0.48844	2.824000	0.97209	0.655000	0.94253	GAC		0.433	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2	0			21:28212612
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		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.chr17:7577539G>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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	False	False	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)	Somatic	0				TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577539
RNF19A	25897	broad.mit.edu	37	8	101276930	101276930	+	Silent	SNP	G	G	T	rs202024866		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:101276930G>T	ENST00000519449.1	-	7	1591	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	RNF19A_ENST00000341084.2_Silent_p.I425I|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	425					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTGGAGACACGATTACAGACA	0.363																																						ENST00000519449.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(1273-1275)atC>atA		ring finger protein 19A, RBR E3 ubiquitin protein ligase							218.0	192.0	201.0					8																	101276930		2203	4300	6503	SO:0001819	synonymous_variant	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101276930G>T	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1275C>A	8.37:g.101276930G>T		False	False		Somatic	0				RNF19A_ENST00000341084.2_Silent_p.I425I|RNF19A_ENST00000523255.1_5'UTR	p.I425I	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	WXS	Illumina HiSeq	Phase_I	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		7	1591	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		425					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Silent	SNP	ENST00000519449.1	37	c.1275C>A	CCDS6286.1																																																																																				0.363	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	0	NM_015435		8:101276930
SYT16	83851	broad.mit.edu	37	14	62551020	62551020	+	Nonsense_Mutation	SNP	C	C	A	rs191032067		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:62551020C>A	ENST00000430451.2	+	5	1738	c.1541C>A	c.(1540-1542)tCg>tAg	p.S514*		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	514	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTGGGGCTCTCGTACAATGCC	0.547																																						ENST00000430451.2		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1540-1542)tCg>tAg		synaptotagmin XVI							83.0	83.0	83.0					14																	62551020		2008	4156	6164	SO:0001587	stop_gained	83851							g.chr14:62551020C>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1541C>A	14.37:g.62551020C>A	ENSP00000394700:p.Ser514*	False	False		Somatic	0					p.S514*	NM_031914.2	NP_114120.2	WXS	Illumina HiSeq	Phase_I	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	5	1738	+			514			C2 2.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Nonsense_Mutation	SNP	ENST00000430451.2	37	c.1541C>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	C	39	7.684779	0.98431	.	.	ENSG00000139973	ENST00000430451	.	.	.	5.44	3.54	0.40534	.	0.187548	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2436	10.2901	0.43590	0.0:0.7905:0.1341:0.0754	.	.	.	.	X	514	.	ENSP00000394700:S514X	S	+	2	0	SYT16	61620773	0.912000	0.30974	0.917000	0.36280	0.990000	0.78478	1.901000	0.39838	0.779000	0.33543	0.643000	0.83706	TCG		0.547	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	0	NM_031914		14:62551020
MEF2C	4208	broad.mit.edu	37	5	88119587	88119587	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:88119587G>T	ENST00000437473.2	-	2	436	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	MEF2C_ENST00000510942.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000424173.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000539796.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000514028.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000508569.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000504921.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000506554.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000514015.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000340208.5_Missense_Mutation_p.Q7K	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	7	Lys-rich (basic).|MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q7E(3)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CTCGTAATCTGAATCTTTTTT	0.343										HNSCC(66;0.2)																												ENST00000504921.2		NA																	3	Substitution - Missense(3)	p.Q7E(3)	lung(3)	breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(19-21)Cag>Aag		myocyte enhancer factor 2C							304.0	304.0	304.0					5																	88119587		1825	4071	5896	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88119587G>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.19C>A	5.37:g.88119587G>T	ENSP00000396219:p.Gln7Lys	False	False	HNSCC(66;0.2)	Somatic	0				MEF2C_ENST00000514028.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000437473.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000514015.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000506554.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000510942.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000539796.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000508569.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000424173.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000340208.5_Missense_Mutation_p.Q7K	p.Q7K			WXS	Illumina HiSeq	Phase_I	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	2	691	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	7			Lys-rich (basic).|MADS-box.		C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.19C>A	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262694	0.80358	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716;ENST00000507984;ENST00000502983;ENST00000508610;ENST00000502831;ENST00000503075;ENST00000509373	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.27	5.12	5.12	0.69794	Transcription factor, MADS-box (5);	0.051449	0.85682	D	0.000000	D	0.82291	0.5005	N	0.11892	0.195	0.80722	D	1	B;D;P;D	0.89917	0.166;1.0;0.909;0.999	B;D;D;D	0.83275	0.149;0.996;0.91;0.993	D	0.86237	0.1641	10	0.87932	D	0	-0.0224	18.9236	0.92536	0.0:0.0:1.0:0.0	.	7;7;7;7	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	K	7	ENSP00000340874:Q7K;ENSP00000389610:Q7K;ENSP00000421925:Q7K;ENSP00000426665:Q7K;ENSP00000396219:Q7K;ENSP00000422390:Q7K;ENSP00000425636:Q7K;ENSP00000423597:Q7K;ENSP00000424606:Q7K;ENSP00000441153:Q7K;ENSP00000423826:Q7K;ENSP00000423656:Q7K;ENSP00000424331:Q7K;ENSP00000427163:Q7K;ENSP00000426442:Q7K;ENSP00000427286:Q7K;ENSP00000426465:Q7K;ENSP00000427309:Q7K	ENSP00000340874:Q7K	Q	-	1	0	MEF2C	88155343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.384000	0.97219	2.543000	0.85770	0.591000	0.81541	CAG		0.343	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	0	NM_002397		5:88119587
C14orf37	145407	broad.mit.edu	37	14	58605921	58605921	+	Silent	SNP	G	G	T	rs377287561		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:58605921G>T	ENST00000267485.7	-	2	350	c.156C>A	c.(154-156)acC>acA	p.T52T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	52						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTAGGTCATCGGTGTTCATCT	0.478																																						ENST00000267485.7		NA																	0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(154-156)acC>acA		chromosome 14 open reading frame 37							272.0	268.0	269.0					14																	58605921		2203	4300	6503	SO:0001819	synonymous_variant	145407					integral to membrane	binding	g.chr14:58605921G>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.156C>A	14.37:g.58605921G>T		False	False		Somatic	0				C14orf37_ENST00000334342.5_5'UTR	p.T52T	NM_001001872.2	NP_001001872.2	WXS	Illumina HiSeq	Phase_I	Q86TY3	CN037_HUMAN			2	350	-			52					A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	ENST00000267485.7	37	c.156C>A	CCDS32089.1																																																																																				0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	0	NM_001001872		14:58605921
HERC2	8924	broad.mit.edu	37	15	28478313	28478313	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:28478313G>T	ENST00000261609.7	-	30	4762	c.4654C>A	c.(4654-4656)Cga>Aga	p.R1552R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCGTTCTCGAATTATCTTT	0.383																																						ENST00000261609.7		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(4654-4656)Cga>Aga		HECT and RLD domain containing E3 ubiquitin protein ligase 2							97.0	102.0	100.0					15																	28478313		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28478313G>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4654C>A	15.37:g.28478313G>T		False	False		Somatic	0					p.R1552R	NM_004667.5	NP_004658.3	WXS	Illumina HiSeq	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	30	4762	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1552						Silent	SNP	ENST00000261609.7	37	c.4654C>A	CCDS10021.1																																																																																				0.383	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	NM_004667		15:28478313
NEB	4703	broad.mit.edu	37	2	152420173	152420173	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:152420173C>A	ENST00000172853.10	-	91	13684	c.13537G>T	c.(13537-13539)Ggt>Tgt	p.G4513C	NEB_ENST00000604864.1_Missense_Mutation_p.G6214C|NEB_ENST00000397345.3_Missense_Mutation_p.G6214C|NEB_ENST00000427231.2_Missense_Mutation_p.G6214C|NEB_ENST00000603639.1_Missense_Mutation_p.G6214C|NEB_ENST00000409198.1_Missense_Mutation_p.G4513C			P20929	NEBU_HUMAN	nebulin	4513					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGAATTCACCGATCACTTTT	0.438																																						ENST00000397345.3		NA																	0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18640-18642)Ggt>Tgt		nebulin							332.0	311.0	317.0					2																	152420173		1920	4137	6057	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152420173C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13537G>T	2.37:g.152420173C>A	ENSP00000172853:p.Gly4513Cys	False	False		Somatic	0				NEB_ENST00000427231.2_Missense_Mutation_p.G6214C|NEB_ENST00000603639.1_Missense_Mutation_p.G6214C|NEB_ENST00000409198.1_Missense_Mutation_p.G4513C|NEB_ENST00000604864.1_Missense_Mutation_p.G6214C|NEB_ENST00000172853.10_Missense_Mutation_p.G4513C	p.G6214C	NM_001164508.1	NP_001157980	WXS	Illumina HiSeq	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	119	18842	-			6196					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.18640G>T		.	.	.	.	.	.	.	.	.	.	C	16.83	3.232555	0.58777	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.06687	3.3;3.28;3.29;3.27;3.3	5.54	-1.62	0.08372	.	0.415688	0.27258	N	0.020192	T	0.13030	0.0316	L	0.60067	1.865	0.09310	N	1	P;P	0.50066	0.92;0.931	P;P	0.52909	0.713;0.696	T	0.06588	-1.0818	10	0.62326	D	0.03	.	7.5055	0.27542	0.0:0.2894:0.1079:0.6027	.	4513;944	P20929;Q14215	NEBU_HUMAN;.	C	4513;6214;6214;562;944;4513	ENSP00000386259:G4513C;ENSP00000380505:G6214C;ENSP00000416578:G6214C;ENSP00000410961:G944C;ENSP00000172853:G4513C	ENSP00000172853:G4513C	G	-	1	0	NEB	152128419	0.952000	0.32445	0.428000	0.26697	0.966000	0.64601	1.256000	0.32921	-0.425000	0.07371	-0.262000	0.10625	GGT		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	NM_004543		2:152420173
YEATS2	55689	broad.mit.edu	37	3	183479340	183479340	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:183479340G>T	ENST00000305135.5	+	14	1897	c.1702G>T	c.(1702-1704)Ggg>Tgg	p.G568W		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	568					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.G568W(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTGCCCAATTGGGAGTCACCC	0.408																																						ENST00000305135.5		NA																	1	Substitution - Missense(1)	p.G568W(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1702-1704)Ggg>Tgg		YEATS domain containing 2							159.0	155.0	156.0					3																	183479340		1869	4091	5960	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183479340G>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1702G>T	3.37:g.183479340G>T	ENSP00000306983:p.Gly568Trp	True	False		Somatic	0					p.G568W	NM_018023.4	NP_060493.3	WXS	Illumina HiSeq	Phase_I	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		14	1897	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		568					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1702G>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393441	0.83011	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.30714	1.52	6.03	6.03	0.97812	.	0.361792	0.27691	N	0.018248	T	0.47248	0.1435	L	0.27053	0.805	0.49687	D	0.999813	D	0.89917	1.0	D	0.97110	1.0	T	0.43925	-0.9361	10	0.87932	D	0	-17.9952	20.5666	0.99351	0.0:0.0:1.0:0.0	.	568	Q9ULM3	YETS2_HUMAN	W	568	ENSP00000306983:G568W	ENSP00000306983:G568W	G	+	1	0	YEATS2	184962034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.120000	0.77153	2.854000	0.98071	0.655000	0.94253	GGG		0.408	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	0	NM_018023		3:183479340
HSPB11	51668	broad.mit.edu	37	1	54395724	54395724	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:54395724G>T	ENST00000194214.5	-	3	582	c.193C>A	c.(193-195)Caa>Aaa	p.Q65K	HSPB11_ENST00000489675.1_5'Flank|HSPB11_ENST00000371376.1_Missense_Mutation_p.Q65K|HSPB11_ENST00000371378.2_Missense_Mutation_p.Q65K|HSPB11_ENST00000371377.3_Missense_Mutation_p.Q65K	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	65					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						AAGTAACTTTGGATTACAAGC	0.318																																						ENST00000194214.5		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						c.(193-195)Caa>Aaa		heat shock protein family B (small), member 11							81.0	75.0	77.0					1																	54395724		1794	4060	5854	SO:0001583	missense	51668				cell adhesion|response to stress			g.chr1:54395724G>T	AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"""Intraflagellar transport homologs"", ""Heat shock proteins / HSPB"""	25019	protein-coding gene	gene with protein product	"""intraflagellar transport 25 homolog (Chlamydomonas)"""		"""chromosome 1 open reading frame 41"""	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.193C>A	1.37:g.54395724G>T	ENSP00000194214:p.Gln65Lys	True	False		Somatic	0				HSPB11_ENST00000371376.1_Missense_Mutation_p.Q65K|HSPB11_ENST00000371377.3_Missense_Mutation_p.Q65K|HSPB11_ENST00000371378.2_Missense_Mutation_p.Q65K	p.Q65K	NM_016126.2	NP_057210.2	WXS	Illumina HiSeq	Phase_I	Q9Y547	HSB11_HUMAN			3	582	-			65					A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	ENST00000194214.5	37	c.193C>A	CCDS41341.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798150	0.31777	.	.	ENSG00000081870	ENST00000194214;ENST00000371378;ENST00000371377;ENST00000371376	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.237149	0.43260	D	0.000593	D	0.96614	0.8895	L	0.55103	1.725	0.40074	D	0.976054	B;B	0.28801	0.223;0.052	B;B	0.32724	0.151;0.038	D	0.95288	0.8392	10	0.13853	T	0.58	-16.6923	15.9014	0.79380	0.0:0.0:1.0:0.0	.	65;65	A6NIR2;Q9Y547	.;HSB11_HUMAN	K	65	ENSP00000194214:Q65K;ENSP00000360429:Q65K;ENSP00000360428:Q65K;ENSP00000360427:Q65K	ENSP00000194214:Q65K	Q	-	1	0	HSPB11	54168312	1.000000	0.71417	0.831000	0.32960	0.703000	0.40648	5.895000	0.69814	2.833000	0.97629	0.591000	0.81541	CAA		0.318	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1	0	NM_016126		1:54395724
FAT4	79633	broad.mit.edu	37	4	126337730	126337730	+	Missense_Mutation	SNP	G	G	T	rs200719060		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:126337730G>T	ENST00000394329.3	+	6	6984	c.6971G>T	c.(6970-6972)cGg>cTg	p.R2324L	FAT4_ENST00000335110.5_Missense_Mutation_p.R622L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2324	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2324Q(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTCTGGATCGGGAAACAAAA	0.418																																						ENST00000394329.3		NA																	2	Substitution - Missense(2)	p.R2324Q(2)	large_intestine(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6970-6972)cGg>cTg		FAT atypical cadherin 4							236.0	229.0	231.0					4																	126337730		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126337730G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6971G>T	4.37:g.126337730G>T	ENSP00000377862:p.Arg2324Leu	True	False		Somatic	0				FAT4_ENST00000335110.5_Missense_Mutation_p.R622L	p.R2324L	NM_024582.4	NP_078858.4	WXS	Illumina HiSeq	Phase_I	Q6V0I7	FAT4_HUMAN			6	6984	+			2324			Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6971G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847652	0.71603	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01599	4.74;4.74	5.33	5.33	0.75918	Cadherin (4);Cadherin-like (1);	0.000000	0.32106	U	0.006577	T	0.11196	0.0273	M	0.80847	2.515	0.58432	D	0.999999	D;D	0.89917	0.991;1.0	D;D	0.69479	0.942;0.964	T	0.02789	-1.1110	10	0.37606	T	0.19	.	19.0466	0.93022	0.0:0.0:1.0:0.0	.	622;2324	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	L	2324;622	ENSP00000377862:R2324L;ENSP00000335169:R622L	ENSP00000335169:R622L	R	+	2	0	FAT4	126557180	1.000000	0.71417	0.989000	0.46669	0.080000	0.17528	9.657000	0.98554	2.493000	0.84123	0.637000	0.83480	CGG		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	NM_024582		4:126337730
KIF2C	11004	broad.mit.edu	37	1	45219408	45219408	+	Missense_Mutation	SNP	G	G	T	rs150604746		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:45219408G>T	ENST00000372224.4	+	7	679	c.566G>T	c.(565-567)cGg>cTg	p.R189L	KIF2C_ENST00000372217.1_Missense_Mutation_p.R135L|KIF2C_ENST00000372218.4_Missense_Mutation_p.R148L|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372222.3_Missense_Mutation_p.R76L	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	189	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TTCATAGTTCGGAGGAAATCA	0.398																																						ENST00000372217.1		NA																	0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(403-405)cGg>cTg		kinesin family member 2C							58.0	66.0	63.0					1																	45219408		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45219408G>T	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.566G>T	1.37:g.45219408G>T	ENSP00000361298:p.Arg189Leu	False	False		Somatic	0				KIF2C_ENST00000372224.4_Missense_Mutation_p.R189L|KIF2C_ENST00000372218.4_Missense_Mutation_p.R148L|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372222.3_Missense_Mutation_p.R76L	p.R135L			WXS	Illumina HiSeq	Phase_I	Q99661	KIF2C_HUMAN			6	755	+	Acute lymphoblastic leukemia(166;0.155)		189			Globular (Potential).		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.404G>T	CCDS512.1	.	.	.	.	.	.	.	.	.	.	g	32	5.129278	0.94473	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T;T;T	0.75589	1.03;-0.94;-0.77;0.76;-0.92;-0.95	6.08	6.08	0.98989	.	0.055839	0.64402	D	0.000002	T	0.76630	0.4014	L	0.38175	1.15	0.53005	D	0.999969	B;P;P	0.47762	0.244;0.9;0.839	B;P;P	0.51135	0.098;0.66;0.542	T	0.76908	-0.2785	10	0.59425	D	0.04	.	19.2272	0.93822	0.0:0.0:1.0:0.0	.	148;135;189	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	L	148;189;148;180;76;135	ENSP00000410346:R148L;ENSP00000361298:R189L;ENSP00000361292:R148L;ENSP00000395050:R180L;ENSP00000361296:R76L;ENSP00000361291:R135L	ENSP00000361291:R135L	R	+	2	0	KIF2C	44991995	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.906000	0.87423	2.894000	0.99253	0.655000	0.94253	CGG		0.398	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	0	NM_006845		1:45219408
IFIT1	3434	broad.mit.edu	37	10	91162663	91162663	+	Missense_Mutation	SNP	C	C	A	rs562615704	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:91162663C>A	ENST00000371804.3	+	2	798	c.631C>A	c.(631-633)Cgc>Agc	p.R211S	IFIT1_ENST00000546318.1_Missense_Mutation_p.R180S|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	211					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCAGGCTGTCCGCTTAAATCC	0.458																																						ENST00000546318.1		NA																	0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(538-540)Cgc>Agc		interferon-induced protein with tetratricopeptide repeats 1							230.0	235.0	233.0					10																	91162663		2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162663C>A	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.631C>A	10.37:g.91162663C>A	ENSP00000360869:p.Arg211Ser	False	False		Somatic	0				LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.R211S	p.R180S	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	WXS	Illumina HiSeq	Phase_I	P09914	IFIT1_HUMAN			2	1825	+			211					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.538C>A	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685494	0.29872	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.73363	-0.74;-0.74	5.39	2.98	0.34508	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.660597	0.15292	N	0.270123	T	0.65176	0.2666	L	0.43757	1.38	0.23366	N	0.997826	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.50432	-0.8829	10	0.27082	T	0.32	.	11.599	0.50990	0.7141:0.2859:0.0:0.0	.	211;211	Q5T7J1;P09914	.;IFIT1_HUMAN	S	211;180	ENSP00000360869:R211S;ENSP00000441968:R180S	ENSP00000360869:R211S	R	+	1	0	IFIT1	91152643	0.023000	0.18921	0.085000	0.20634	0.025000	0.11179	1.287000	0.33284	0.391000	0.25143	-0.375000	0.07067	CGC		0.458	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	0	NM_001548		10:91162663
SEC22B	9554	broad.mit.edu	37	1	145109678	145109678	+	RNA	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:145109678G>T	ENST00000453618.1	+	0	667							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TTCCTTTATTGAATTTGGTAA	0.383																																						ENST00000453618.1		NA																	0					NA								SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							570.0	566.0	567.0					1																	145109678		1964	4150	6114			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109678G>T	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109678G>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	O75396	SC22B_HUMAN			0	667	+			NA					A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.383	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	0	NM_004892		1:145109678
CAPRIN2	65981	broad.mit.edu	37	12	30881820	30881820	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:30881820C>A	ENST00000395805.2	-	8	2091	c.1544G>T	c.(1543-1545)tGg>tTg	p.W515L	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.W515L|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W182L|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W515L|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W515L	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGAAGGTGTCCAAGACTTTGG	0.473																																						ENST00000251071.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(1543-1545)tGg>tTg		caprin family member 2							188.0	177.0	181.0					12																	30881820		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30881820C>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1544G>T	12.37:g.30881820C>A	ENSP00000379150:p.Trp515Leu	False	False		Somatic	0				CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W515L|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W515L|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.W515L|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W182L	p.W515L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	WXS	Illumina HiSeq	Phase_I	Q6IMN6	CAPR2_HUMAN			8	2294	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		515						Missense_Mutation	SNP	ENST00000395805.2	37	c.1544G>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017222	0.75161	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.77620	2.24;-0.87;2.69;-0.79;-1.11;2.66;2.3	4.65	4.65	0.58169	.	0.276934	0.38217	N	0.001766	T	0.79924	0.4530	N	0.19112	0.55	0.42313	D	0.992223	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D	0.85130	0.997;0.997;0.994;0.997;0.994;0.996;0.994	T	0.80817	-0.1213	10	0.39692	T	0.17	-4.407	16.085	0.81038	0.0:1.0:0.0:0.0	.	515;241;515;515;515;515;515	Q6IMN6-6;E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;.;CAPR2_HUMAN;.;.	L	261;515;515;515;182;515;241;434	ENSP00000415407:W261L;ENSP00000298892:W515L;ENSP00000379150:W515L;ENSP00000251071:W515L;ENSP00000309785:W182L;ENSP00000391479:W515L;ENSP00000438010:W434L	ENSP00000251071:W515L	W	-	2	0	CAPRIN2	30773087	1.000000	0.71417	0.977000	0.42913	0.902000	0.53008	4.524000	0.60552	2.299000	0.77371	0.561000	0.74099	TGG		0.473	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	0	NM_023925		12:30881820
POTEH	23784	broad.mit.edu	37	22	16279236	16279236	+	Silent	SNP	G	G	T	rs560275562	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:16279236G>T	ENST00000343518.6	-	4	1038	c.987C>A	c.(985-987)atC>atA	p.I329I	RNU6-816P_ENST00000390914.1_RNA|POTEH-AS1_ENST00000422014.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	329										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTTTTTTCTTGATTAAAAATT	0.333													G|||	2	0.000399361	0.0	0.0	5008	,	,		68832	0.0		0.0	False		,,,				2504	0.002					ENST00000343518.6		NA																	0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(985-987)atC>atA		POTE ankyrin domain family, member H																																				SO:0001819	synonymous_variant	23784							g.chr22:16279236G>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.987C>A	22.37:g.16279236G>T		False	False		Somatic	0					p.I329I	NM_001136213.1	NP_001129685.1	WXS	Illumina HiSeq	Phase_I	Q6S545	POTEH_HUMAN			4	1038	-			329					A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	c.987C>A	CCDS46658.1																																																																																				0.333	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	0	NM_001136213		22:16279236
HTR1A	3350	broad.mit.edu	37	5	63257013	63257013	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:63257013C>A	ENST00000323865.3	-	1	767	c.534G>T	c.(532-534)ccG>ccT	p.P178P	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	178					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGCGGTCTTCCGGGGTGCGCC	0.597																																						ENST00000323865.3		NA																	0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(532-534)ccG>ccT		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						109.0	127.0	121.0					5																	63257013		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257013C>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.534G>T	5.37:g.63257013C>A		True	False		Somatic	0				RP11-158J3.2_ENST00000502882.1_RNA	p.P178P	NM_000524.3	NP_000515.2	WXS	Illumina HiSeq	Phase_I	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	767	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	178					Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.534G>T	CCDS34168.1																																																																																				0.597	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	0	NM_000524		5:63257013
ADAMTS20	80070	broad.mit.edu	37	12	43825211	43825211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:43825211G>T	ENST00000389420.3	-	22	3184	c.3185C>A	c.(3184-3186)tCa>tAa	p.S1062*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1062*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S216*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1062	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTTGGTACTTGAATTACAGAA	0.433																																						ENST00000389420.3		NA																	0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3184-3186)tCa>tAa		ADAM metallopeptidase with thrombospondin type 1 motif, 20							167.0	145.0	152.0					12																	43825211		2203	4300	6503	SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43825211G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3185C>A	12.37:g.43825211G>T	ENSP00000374071:p.Ser1062*	False	False		Somatic	0				ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1062*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S216*	p.S1062*	NM_025003.3	NP_079279.3	WXS	Illumina HiSeq	Phase_I	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	22	3184	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1062			TSP type-1 5.		A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	c.3185C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	g	37	6.446143	0.97572	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	3.97	3.06	0.35304	.	0.504438	0.16887	N	0.195457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	8.0962	0.30829	0.253:0.0:0.747:0.0	.	.	.	.	X	1062;228;216;1062;1062	.	ENSP00000374068:S1062X	S	-	2	0	ADAMTS20	42111478	0.973000	0.33851	0.280000	0.24747	0.557000	0.35523	1.659000	0.37387	2.140000	0.66376	0.651000	0.88453	TCA		0.433	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	0	NM_025003		12:43825211
MVB12B	89853	broad.mit.edu	37	9	129154438	129154438	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:129154438G>A	ENST00000361171.3	+	5	584	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	MVB12B_ENST00000535766.1_Missense_Mutation_p.R161Q|MVB12B_ENST00000436593.3_Missense_Mutation_p.R153Q|MVB12B_ENST00000545391.1_Missense_Mutation_p.R168Q	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	168	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										ATCATGGGCCGGACCAAGCAG	0.512																																						ENST00000361171.3		NA																	0					NA						c.(502-504)cGg>cAg		multivesicular body subunit 12B							107.0	113.0	111.0					9																	129154438		2203	4300	6503	SO:0001583	missense	89853							g.chr9:129154438G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.503G>A	9.37:g.129154438G>A	ENSP00000354772:p.Arg168Gln	False	False		Somatic	0				MVB12B_ENST00000535766.1_Missense_Mutation_p.R161Q|MVB12B_ENST00000436593.3_Missense_Mutation_p.R153Q|MVB12B_ENST00000545391.1_Missense_Mutation_p.R168Q	p.R168Q	NM_033446.2	NP_258257.1	WXS	Illumina HiSeq	Phase_I					5	584	+			NA					Q8N6S7	Missense_Mutation	SNP	ENST00000361171.3	37	c.503G>A	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	36	5.876815	0.97055	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.9	5.9	0.94986	MABP domain (1);	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;0.996	D;P;D;P	0.87578	0.998;0.773;0.998;0.825	T	0.77194	-0.2677	10	0.66056	D	0.02	-3.0422	19.2671	0.93993	0.0:0.0:1.0:0.0	.	161;153;37;168	B7Z4X0;B7Z1P9;Q9H7N7;Q9H7P6	.;.;.;F125B_HUMAN	Q	168;168;153;153;161	ENSP00000354772:R168Q;ENSP00000441988:R168Q;ENSP00000384751:R153Q;ENSP00000401379:R153Q;ENSP00000442846:R161Q	ENSP00000354772:R168Q	R	+	2	0	FAM125B	128194259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.859000	0.75467	2.788000	0.95919	0.650000	0.86243	CGG		0.512	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	0	XM_088525		9:129154438
PHF20L1	51105	broad.mit.edu	37	8	133790126	133790126	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:133790126C>A	ENST00000395386.2	+	2	351	c.52C>A	c.(52-54)Cgt>Agt	p.R18S	PHF20L1_ENST00000395379.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000337920.4_Missense_Mutation_p.R18S|PHF20L1_ENST00000395376.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R18S|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	18	Tudor 1.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATTGGTGCTCGTTTGGAGGC	0.363																																						ENST00000395386.2		NA																	0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(52-54)Cgt>Agt		PHD finger protein 20-like 1							120.0	124.0	123.0					8																	133790126		2203	4300	6503	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133790126C>A	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.52C>A	8.37:g.133790126C>A	ENSP00000378784:p.Arg18Ser	False	False		Somatic	0				PHF20L1_ENST00000395379.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000337920.4_Missense_Mutation_p.R18S|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R18S|PHF20L1_ENST00000395376.1_Missense_Mutation_p.R18S	p.R18S	NM_016018.4	NP_057102.4	WXS	Illumina HiSeq	Phase_I	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		2	351	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		18			Tudor 1.		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.52C>A	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586264	0.86851	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395390	T;T;T;T;T;T;T;T	0.49139	0.8;0.82;0.85;1.36;0.79;0.85;0.81;1.41	5.71	5.71	0.89125	Tudor-like, plant (1);Tudor domain (1);	0.156524	0.64402	D	0.000013	T	0.56775	0.2008	L	0.33624	1.015	0.80722	D	1	D;P;D;D;D	0.63046	0.988;0.755;0.992;0.99;0.987	P;B;P;P;P	0.60682	0.878;0.291;0.855;0.729;0.526	T	0.54456	-0.8291	10	0.46703	T	0.11	-8.4742	18.4154	0.90568	0.0:1.0:0.0:0.0	.	18;18;18;18;18	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	S	18	ENSP00000378781:R18S;ENSP00000378777:R18S;ENSP00000355301:R18S;ENSP00000378784:R18S;ENSP00000324519:R18S;ENSP00000338269:R18S;ENSP00000378775:R18S;ENSP00000378788:R18S	ENSP00000324519:R18S	R	+	1	0	PHF20L1	133859308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.940000	0.56599	2.685000	0.91497	0.585000	0.79938	CGT		0.363	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	0	NM_016018		8:133790126
TBC1D8B	54885	broad.mit.edu	37	X	106092492	106092492	+	Intron	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:106092492C>T	ENST00000357242.5	+	12	2011				TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P619S|TBC1D8B_ENST00000276175.3_Intron	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)								calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGATTTTATGCCACTAGTAAG	0.328																																						ENST00000310452.2		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1855-1857)Cca>Tca		TBC1 domain family, member 8B (with GRAM domain)							56.0	54.0	54.0					X																	106092492		2203	4300	6503	SO:0001627	intron_variant	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106092492C>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1838-763C>T	X.37:g.106092492C>T		False	False		Somatic	0				TBC1D8B_ENST00000357242.5_Intron|TBC1D8B_ENST00000276175.3_Intron	p.P619S	NM_198881.1	NP_942582.1	WXS	Illumina HiSeq	Phase_I	Q0IIM8	TBC8B_HUMAN			12	2020	+			0			Rab-GAP TBC.		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.1855C>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	-	2.460	-0.324381	0.05350	.	.	ENSG00000133138	ENST00000310452	T	0.12774	2.65	.	.	.	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	0.999999	P	0.52842	0.956	P	0.60541	0.876	T	0.10245	-1.0638	6	0.37606	T	0.19	.	.	.	.	.	619	B9A6K6	.	S	619	ENSP00000310675:P619S	ENSP00000310675:P619S	P	+	1	0	TBC1D8B	105979148	0.138000	0.22547	0.098000	0.21074	0.067000	0.16453	0.331000	0.19733	0.378000	0.24764	0.379000	0.24179	CCA		0.328	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	0	NM_017752		X:106092492
PMM2	5373	broad.mit.edu	37	16	8900255	8900255	+	Missense_Mutation	SNP	C	C	A	rs80338700		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:8900255C>A	ENST00000268261.4	+	4	404	c.338C>A	c.(337-339)cCg>cAg	p.P113Q	PMM2_ENST00000569958.1_Intron|PMM2_ENST00000539622.1_Missense_Mutation_p.P30Q|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.P86Q	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	113			P -> L (in CDG1A). {ECO:0000269|PubMed:11058895, ECO:0000269|PubMed:11058896, ECO:0000269|PubMed:15844218}.		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATTAAACTCCCGAAGAAGAGG	0.403																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)	ENST00000268261.4		NA																	0				breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9	GRCh37	CM971224	PMM2	M	rs80338700	c.(337-339)cCg>cAg		phosphomannomutase 2							76.0	73.0	74.0					16																	8900255		2197	4300	6497	SO:0001583	missense	5373				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity	g.chr16:8900255C>A	BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"""phosphomannose isomerase 1"""	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.338C>A	16.37:g.8900255C>A	ENSP00000268261:p.Pro113Gln	True	False		Somatic	0				PMM2_ENST00000539622.1_Missense_Mutation_p.P30Q|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000569958.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.P86Q	p.P113Q	NM_000303.2	NP_000294.1	WXS	Illumina HiSeq	Phase_I	O15305	PMM2_HUMAN			4	404	+			113		P -> L (in CDG1A).			A8K672|B7Z6R0|D3DUF3	Missense_Mutation	SNP	ENST00000268261.4	37	c.338C>A	CCDS10536.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688655	0.88639	.	.	ENSG00000140650	ENST00000268261;ENST00000539622	D;D	0.99394	-5.82;-5.82	5.29	5.29	0.74685	HAD-like domain (1);	0.049768	0.85682	D	0.000000	D	0.99616	0.9860	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.97892	1.0298	10	0.62326	D	0.03	.	17.9324	0.89002	0.0:1.0:0.0:0.0	.	30;113;113	F5H0W0;B7Z3M6;O15305	.;.;PMM2_HUMAN	Q	113;30	ENSP00000268261:P113Q;ENSP00000445879:P30Q	ENSP00000268261:P113Q	P	+	2	0	PMM2	8807756	1.000000	0.71417	0.944000	0.38274	0.875000	0.50365	7.466000	0.80914	2.466000	0.83321	0.591000	0.81541	CCG		0.403	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1	0	NM_000303		16:8900255
UTP14C	9724	broad.mit.edu	37	13	52603100	52603100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:52603100G>T	ENST00000521776.2	+	2	893	c.160G>T	c.(160-162)Gga>Tga	p.G54*	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	54					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TTCCCTTGATGGAAAGAATAG	0.458																																						ENST00000521776.2		NA																	0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(160-162)Gga>Tga		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							203.0	210.0	208.0					13																	52603100		2203	4300	6503	SO:0001587	stop_gained	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603100G>T	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.160G>T	13.37:g.52603100G>T	ENSP00000428619:p.Gly54*	False	False		Somatic	0				ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	p.G54*	NM_021645.5	NP_067677.4	WXS	Illumina HiSeq	Phase_I	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	893	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	54					Q5FWG3|Q92555	Nonsense_Mutation	SNP	ENST00000521776.2	37	c.160G>T	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	40	8.021356	0.98613	.	.	ENSG00000253797	ENST00000521776	.	.	.	2.69	2.69	0.31865	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-11.8199	11.1082	0.48216	0.0:0.0:1.0:0.0	.	.	.	.	X	54	.	ENSP00000428619:G54X	G	+	1	0	UTP14C	51501101	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	3.303000	0.51858	1.515000	0.48885	0.551000	0.68910	GGA		0.458	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	0	NM_021645		13:52603100
SDR42E1	93517	broad.mit.edu	37	16	82033377	82033377	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:82033377C>T	ENST00000328945.5	-	3	648	c.521G>A	c.(520-522)gGc>gAc	p.G174D	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	174					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GACACCGTCGCCTCTGTCCAG	0.557																																						ENST00000328945.5		NA																	0				NS(2)|endometrium(1)|lung(4)|skin(3)	10						c.(520-522)gGc>gAc		short chain dehydrogenase/reductase family 42E, member 1							84.0	85.0	85.0					16																	82033377		2045	4198	6243	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033377C>T	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.521G>A	16.37:g.82033377C>T	ENSP00000332407:p.Gly174Asp	False	False		Somatic	0				SDR42E1_ENST00000534209.1_5'UTR	p.G174D	NM_145168.2	NP_660151.2	WXS	Illumina HiSeq	Phase_I	Q8WUS8	D42E1_HUMAN			3	648	-			174					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.521G>A	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	C	8.554	0.876151	0.17395	.	.	ENSG00000184860	ENST00000328945;ENST00000532128	D;D	0.86297	-2.1;-2.1	5.76	4.81	0.61882	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.402695	0.32459	N	0.006073	D	0.83695	0.5310	L	0.58510	1.815	0.09310	N	0.999999	B	0.12630	0.006	B	0.18263	0.021	T	0.73616	-0.3926	10	0.41790	T	0.15	-2.9917	10.2802	0.43534	0.0:0.8505:0.0:0.1495	.	174	Q8WUS8	D42E1_HUMAN	D	174;171	ENSP00000332407:G174D;ENSP00000434529:G171D	ENSP00000332407:G174D	G	-	2	0	SDR42E1	80590878	0.002000	0.14202	0.002000	0.10522	0.006000	0.05464	1.918000	0.40006	1.431000	0.47355	0.655000	0.94253	GGC		0.557	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	0	NM_145168		16:82033377
PHKA2	5256	broad.mit.edu	37	X	18911697	18911697	+	Missense_Mutation	SNP	G	G	T	rs137852288		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:18911697G>T	ENST00000379942.4	-	33	4279	c.3614C>A	c.(3613-3615)cCg>cAg	p.P1205Q	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1205			P -> L (in GSD9A; type 1). {ECO:0000269|PubMed:7847371}.		carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGCCCCACTCGGAGCGCTGTC	0.527																																						ENST00000379942.4		NA																	0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	GRCh37	CM950938	PHKA2	M	rs137852288	c.(3613-3615)cCg>cAg		phosphorylase kinase, alpha 2 (liver)							193.0	187.0	189.0					X																	18911697		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18911697G>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3614C>A	X.37:g.18911697G>T	ENSP00000369274:p.Pro1205Gln	False	False		Somatic	0				PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR	p.P1205Q	NM_000292.2	NP_000283.1	WXS	Illumina HiSeq	Phase_I	P46019	KPB2_HUMAN			33	4279	-	Hepatocellular(33;0.183)		1205		P -> L (in GSD9A; type 1).			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.3614C>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490124	0.64074	.	.	ENSG00000044446	ENST00000379942	D	0.94537	-3.45	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98505	1.0616	10	0.87932	D	0	-19.5219	19.2244	0.93812	0.0:0.0:1.0:0.0	.	1205	P46019	KPB2_HUMAN	Q	1205	ENSP00000369274:P1205Q	ENSP00000369274:P1205Q	P	-	2	0	PHKA2	18821618	1.000000	0.71417	0.326000	0.25389	0.046000	0.14306	9.361000	0.97122	2.492000	0.84095	0.600000	0.82982	CCG		0.527	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	0	NM_000292		X:18911697
RP11-156P1.2	0	broad.mit.edu	37	17	45127368	45127368	+	IGR	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:45127368C>A	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							AAAAAGAGTCCAAAGTTCAGA	0.453																																						ENST00000575173.1		NA																	0					NA																																												SO:0001628	intergenic_variant	0							g.chr17:45127368C>A																													17.37:g.45127368C>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	418	-			NA						RNA	SNP	ENST00000571841.1	37																																																																																						0.453	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1	0			17:45127368
SPATA6	54558	broad.mit.edu	37	1	48865184	48865184	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:48865184C>A	ENST00000371847.3	-	7	783	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E207*|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E135*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	207					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.E207*(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTAGGCTGTTCGTAGTTTTTT	0.408																																						ENST00000371847.3		NA																	1	Substitution - Nonsense(1)	p.E207*(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(619-621)Gaa>Taa		spermatogenesis associated 6							259.0	262.0	261.0					1																	48865184		2203	4300	6503	SO:0001587	stop_gained	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48865184C>A	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.619G>T	1.37:g.48865184C>A	ENSP00000360913:p.Glu207*	False	False		Somatic	0				SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E207*|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E135*	p.E207*	NM_019073.2	NP_061946.1	WXS	Illumina HiSeq	Phase_I	Q9NWH7	SPAT6_HUMAN			7	783	-			207					Q5T3N7|Q8WUE6	Nonsense_Mutation	SNP	ENST00000371847.3	37	c.619G>T	CCDS551.1	.	.	.	.	.	.	.	.	.	.	C	37	6.599110	0.97692	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841	.	.	.	5.57	5.57	0.84162	.	0.120087	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.5334	0.91000	0.0:1.0:0.0:0.0	.	.	.	.	X	207;207;135;48	.	ENSP00000360907:E48X	E	-	1	0	SPATA6	48637771	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.736000	0.38187	2.611000	0.88343	0.555000	0.69702	GAA		0.408	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	0	NM_019073		1:48865184
ATP7A	538	broad.mit.edu	37	X	77298876	77298876	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:77298876G>T	ENST00000341514.6	+	21	4222	c.4067G>T	c.(4066-4068)cGg>cTg	p.R1356L	ATP7A_ENST00000343533.5_Missense_Mutation_p.R1278L|ATP7A_ENST00000350425.4_Missense_Mutation_p.R359L	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1356					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAGAGGATTCGGATAAATTTT	0.343																																						ENST00000341514.6		NA																	0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(4066-4068)cGg>cTg		ATPase, Cu++ transporting, alpha polypeptide							151.0	148.0	149.0					X																	77298876		2203	4299	6502	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77298876G>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4067G>T	X.37:g.77298876G>T	ENSP00000345728:p.Arg1356Leu	False	False		Somatic	0				ATP7A_ENST00000343533.5_Missense_Mutation_p.R1278L|ATP7A_ENST00000350425.4_Missense_Mutation_p.R359L	p.R1356L	NM_000052.5	NP_000043.4	WXS	Illumina HiSeq	Phase_I	Q04656	ATP7A_HUMAN			21	4222	+			1356					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.4067G>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296577	0.81025	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.99239	-5.61;-5.61;-5.61	5.41	5.41	0.78517	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	M	0.65320	2	0.80722	D	1	D	0.60160	0.987	P	0.57846	0.828	D	0.99853	1.1074	10	0.87932	D	0	-22.2346	18.1943	0.89815	0.0:0.0:1.0:0.0	.	1356	Q04656	ATP7A_HUMAN	L	1278;359;1356	ENSP00000343026:R1278L;ENSP00000343678:R359L;ENSP00000345728:R1356L	ENSP00000345728:R1356L	R	+	2	0	ATP7A	77185532	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	7.545000	0.82128	2.234000	0.73211	0.600000	0.82982	CGG		0.343	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	0	NM_000052		X:77298876
SUN1	23353	broad.mit.edu	37	7	888057	888057	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:888057G>T	ENST00000456758.2	+	9	835	c.835G>T	c.(835-837)Ggt>Tgt	p.G279C	SUN1_ENST00000425407.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000413514.2_5'Flank|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000452783.2_Intron			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTAATAGGCGGTGCGTCTTT	0.358																																						ENST00000456758.2		NA																	0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(835-837)Ggt>Tgt		Sad1 and UNC84 domain containing 1							244.0	248.0	246.0					7																	888057		876	1991	2867	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:888057G>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000456758.2:c.835G>T	7.37:g.888057G>T	ENSP00000388743:p.Gly279Cys	False	False		Somatic	0				SUN1_ENST00000389574.3_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000452783.2_Intron	p.G279C			WXS	Illumina HiSeq	Phase_I	O94901	SUN1_HUMAN			9	835	+			0			EMD-binding.|SYNE2-binding.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000456758.2	37	c.835G>T		.	.	.	.	.	.	.	.	.	.	G	18.66	3.672109	0.67928	.	.	ENSG00000164828	ENST00000456758;ENST00000429178	T;T	0.42513	0.97;0.97	5.56	4.67	0.58626	.	.	.	.	.	T	0.65943	0.2740	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70479	-0.4860	8	0.56958	D	0.05	.	16.0363	0.80631	0.0:0.1351:0.8649:0.0	.	221	O94901-3	.	C	279;52	ENSP00000388743:G279C;ENSP00000409909:G52C	ENSP00000409909:G52C	G	+	1	0	SUN1	854583	1.000000	0.71417	0.996000	0.52242	0.836000	0.47400	2.856000	0.48341	1.339000	0.45563	0.650000	0.86243	GGT		0.358	SUN1-204	KNOWN	basic	protein_coding	protein_coding		0	NM_025154		7:888057
ACADSB	36	broad.mit.edu	37	10	124797320	124797320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:124797320C>A	ENST00000358776.4	+	3	274	c.260C>A	c.(259-261)tCg>tAg	p.S87*	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Intron	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	87					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.S87L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GATGAAAATTCGAAAATGGAG	0.313																																						ENST00000358776.4		NA																	1	Substitution - Missense(1)	p.S87L(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(259-261)tCg>tAg		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)						87.0	99.0	95.0					10																	124797320		2203	4296	6499	SO:0001587	stop_gained	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124797320C>A	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.260C>A	10.37:g.124797320C>A	ENSP00000357873:p.Ser87*	False	False		Somatic	0				ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Intron	p.S87*	NM_001609.3	NP_001600.1	WXS	Illumina HiSeq	Phase_I	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	3	274	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	87					B4DQ51|Q5SQN6|Q96CX7	Nonsense_Mutation	SNP	ENST00000358776.4	37	c.260C>A	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221647	0.95139	.	.	ENSG00000196177	ENST00000358776	.	.	.	5.93	5.01	0.66863	.	0.132878	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	16.3753	0.83383	0.133:0.867:0.0:0.0	.	.	.	.	X	87	.	ENSP00000357873:S87X	S	+	2	0	ACADSB	124787310	0.964000	0.33143	0.998000	0.56505	0.979000	0.70002	4.641000	0.61375	1.466000	0.48025	0.655000	0.94253	TCG		0.313	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	0	NM_001609		10:124797320
FLVCR1	28982	broad.mit.edu	37	1	213061865	213061865	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:213061865G>T	ENST00000366971.4	+	7	1540	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	448					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTTGGGTTTTGAATTTGCTGT	0.383																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4		NA																	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(1342-1344)Gaa>Taa		feline leukemia virus subgroup C cellular receptor 1							204.0	188.0	194.0					1																	213061865		2203	4300	6503	SO:0001587	stop_gained	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213061865G>T	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.1342G>T	1.37:g.213061865G>T	ENSP00000355938:p.Glu448*	True	False		Somatic	0				FLVCR1_ENST00000483790.1_3'UTR	p.E448*	NM_014053.3	NP_054772.1	WXS	Illumina HiSeq	Phase_I	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	7	1540	+			448					Q1HE16|Q86XY9|Q9NVR9	Nonsense_Mutation	SNP	ENST00000366971.4	37	c.1342G>T	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.416920|6.416920	0.97550|0.97550	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000366971|ENST00000419102	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77582	.|-0.2534	.|3	0.87932|.	D|.	0|.	-27.963|-27.963	19.5996|19.5996	0.95554|0.95554	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	448|246	.|.	ENSP00000355938:E448X|.	E|L	+|+	1|3	0|2	FLVCR1|FLVCR1	211128488|211128488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.238000|9.238000	0.95380|0.95380	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GAA|TTG		0.383	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	0	NM_014053		1:213061865
KLHL5	51088	broad.mit.edu	37	4	39064285	39064285	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:39064285C>A	ENST00000504108.1	+	1	434	c.151C>A	c.(151-153)Cgt>Agt	p.R51S	KLHL5_ENST00000261426.5_Missense_Mutation_p.R51S|KLHL5_ENST00000261425.3_Missense_Mutation_p.R5S|KLHL5_ENST00000381930.3_Missense_Mutation_p.R51S|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000359687.2_Missense_Mutation_p.R51S	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	51						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GTCTGGTTCTCGTAAAGAGTT	0.433																																						ENST00000261425.3		NA																	0				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(13-15)Cgt>Agt		kelch-like family member 5							215.0	202.0	207.0					4																	39064285		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39064285C>A	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.151C>A	4.37:g.39064285C>A	ENSP00000423897:p.Arg51Ser	False	False		Somatic	0				KLHL5_ENST00000504108.1_Missense_Mutation_p.R51S|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000359687.2_Missense_Mutation_p.R51S|KLHL5_ENST00000381930.3_Missense_Mutation_p.R51S|KLHL5_ENST00000261426.5_Missense_Mutation_p.R51S	p.R5S	NM_001007075.2	NP_001007076.1	WXS	Illumina HiSeq	Phase_I	Q96PQ7	KLHL5_HUMAN			2	165	+			51					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.13C>A	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761994	0.69763	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T	0.78364	-0.82;-0.88;-0.8;-0.82;-1.17	5.2	5.2	0.72013	.	0.086461	0.45867	D	0.000335	D	0.82724	0.5099	L	0.29908	0.895	0.58432	D	0.999997	D;P;D	0.63046	0.978;0.931;0.992	D;B;D	0.70487	0.969;0.391;0.969	D	0.84906	0.0845	10	0.87932	D	0	.	19.0941	0.93242	0.0:1.0:0.0:0.0	.	51;51;51	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	S	85;5;51;51;51;51	ENSP00000261425:R5S;ENSP00000423897:R51S;ENSP00000352716:R51S;ENSP00000371355:R51S;ENSP00000261426:R51S	ENSP00000261425:R5S	R	+	1	0	KLHL5	38740680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.883000	0.56168	2.578000	0.87016	0.650000	0.86243	CGT		0.433	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1	0			4:39064285
EPHA1	2041	broad.mit.edu	37	7	143092480	143092480	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:143092480C>A	ENST00000275815.3	-	12	2101	c.2015G>T	c.(2014-2016)cGa>cTa	p.R672L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	672	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGTTGCCTCTCGAAGGAAGTT	0.567											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000275815.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(2014-2016)cGa>cTa		EPH receptor A1							209.0	210.0	210.0					7																	143092480		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143092480C>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2015G>T	7.37:g.143092480C>A	ENSP00000275815:p.Arg672Leu	True	False		Somatic	0	OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1676		p.R672L	NM_005232.4	NP_005223.4	WXS	Illumina HiSeq	Phase_I	P21709	EPHA1_HUMAN			12	2101	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	672			Protein kinase.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.2015G>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234819	0.95207	.	.	ENSG00000146904	ENST00000275815	D	0.83250	-1.7	4.83	4.83	0.62350	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000091	D	0.87912	0.6297	L	0.56280	1.765	0.58432	D	0.999999	D	0.63046	0.992	P	0.59948	0.866	D	0.87806	0.2628	10	0.49607	T	0.09	.	18.4787	0.90802	0.0:1.0:0.0:0.0	.	672	P21709	EPHA1_HUMAN	L	672	ENSP00000275815:R672L	ENSP00000275815:R672L	R	-	2	0	EPHA1	142802602	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.820000	0.69250	2.669000	0.90835	0.655000	0.94253	CGA		0.567	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1	0			7:143092480
MRPS7	51081	broad.mit.edu	37	17	73259586	73259586	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:73259586C>A	ENST00000245539.6	+	4	732	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	GGA3_ENST00000351904.7_5'Flank|MRPS7_ENST00000579761.1_Missense_Mutation_p.Q169K|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000538886.1_5'Flank|GGA3_ENST00000578348.1_5'Flank|GGA3_ENST00000582717.1_5'Flank|GGA3_ENST00000582486.1_5'Flank|MRPS7_ENST00000579002.1_Missense_Mutation_p.Q198K|GGA3_ENST00000537686.1_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	169					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CCGTTTCTACCAGGTGAATGA	0.507																																						ENST00000579761.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6						c.(505-507)Cag>Aag		mitochondrial ribosomal protein S7							203.0	197.0	199.0					17																	73259586		2203	4300	6503	SO:0001583	missense	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73259586C>A	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"""Mitochondrial ribosomal proteins / small subunits"""	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.505C>A	17.37:g.73259586C>A	ENSP00000245539:p.Gln169Lys	False	False		Somatic	0				MRPS7_ENST00000579002.1_Missense_Mutation_p.Q198K|MRPS7_ENST00000245539.6_Missense_Mutation_p.Q169K	p.Q169K			WXS	Illumina HiSeq	Phase_I	Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		4	732	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		169					B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	c.505C>A	CCDS11718.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095441	0.36952	.	.	ENSG00000125445	ENST00000245539	T	0.55052	0.54	5.13	5.13	0.70059	Ribosomal protein S7 domain (3);	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85168	0.0996	10	0.87932	D	0	-38.3607	18.9531	0.92647	0.0:1.0:0.0:0.0	.	169	Q9Y2R9	RT07_HUMAN	K	169	ENSP00000245539:Q169K	ENSP00000245539:Q169K	Q	+	1	0	MRPS7	70771181	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	7.776000	0.85560	2.532000	0.85374	0.563000	0.77884	CAG		0.507	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	0	NM_015971		17:73259586
MYO9A	4649	broad.mit.edu	37	15	72191285	72191285	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:72191285G>T	ENST00000356056.5	-	25	4031	c.3559C>A	c.(3559-3561)Cag>Aag	p.Q1187K	MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1168K|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000566885.1_Missense_Mutation_p.Q807K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1187	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTGAACCCTGAATTTCCAGA	0.358																																						ENST00000356056.5		NA																	0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(3559-3561)Cag>Aag		myosin IXA							160.0	169.0	166.0					15																	72191285		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72191285G>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3559C>A	15.37:g.72191285G>T	ENSP00000348349:p.Gln1187Lys	False	False		Somatic	0				MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000566885.1_Missense_Mutation_p.Q807K|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1168K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1187K	p.Q1187K	NM_006901.3	NP_008832.2	WXS	Illumina HiSeq	Phase_I	B2RTY4	MYO9A_HUMAN			25	4031	-			1187			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.3559C>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	8.135	0.783992	0.16189	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.82893	-1.65;-1.66;-1.65	4.91	1.66	0.24008	.	.	.	.	.	T	0.61261	0.2333	N	0.17082	0.46	0.24994	N	0.991511	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.50947	-0.8767	9	0.02654	T	1	.	3.1569	0.06508	0.0942:0.1287:0.5011:0.276	.	1168;1187	B2RTY4-2;B2RTY4	.;MYO9A_HUMAN	K	1187;1187;1168	ENSP00000348349:Q1187K;ENSP00000399162:Q1187K;ENSP00000398250:Q1168K	ENSP00000348349:Q1187K	Q	-	1	0	MYO9A	69978339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.069000	0.41481	1.044000	0.40200	0.585000	0.79938	CAG		0.358	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	0	NM_006901		15:72191285
CYP20A1	57404	broad.mit.edu	37	2	204137450	204137450	+	Silent	SNP	C	C	A	rs201185429		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:204137450C>A	ENST00000356079.4	+	6	781	c.658C>A	c.(658-660)Cgg>Agg	p.R220R	CYP20A1_ENST00000429815.2_Silent_p.R228R|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	220						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						AAACATGACTCGGAAAAAACA	0.313																																						ENST00000356079.4		NA																	0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(658-660)Cgg>Agg		cytochrome P450, family 20, subfamily A, polypeptide 1							38.0	41.0	40.0					2																	204137450		2203	4296	6499	SO:0001819	synonymous_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204137450C>A	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.658C>A	2.37:g.204137450C>A		False	False		Somatic	0				CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Silent_p.R228R	p.R220R	NM_177538.2	NP_803882.1	WXS	Illumina HiSeq	Phase_I	Q6UW02	CP20A_HUMAN			6	781	+			220					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Silent	SNP	ENST00000356079.4	37	c.658C>A	CCDS2357.1																																																																																				0.313	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	0	NM_020674		2:204137450
CA1	759	broad.mit.edu	37	8	86250487	86250487	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:86250487G>T	ENST00000523953.1	-	4	1275	c.229C>A	c.(229-231)Cga>Aga	p.R77R	CA1_ENST00000523022.1_Silent_p.R77R|CA1_ENST00000256119.5_Silent_p.R77R|CA1_ENST00000431316.1_Silent_p.R77R|CA1_ENST00000522389.1_Intron|CA1_ENST00000542576.1_Silent_p.R77R|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000432364.2_Silent_p.R77R			P00915	CAH1_HUMAN	carbonic anhydrase I	77					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TCACCTGATCGGTTATCGTTG	0.393																																						ENST00000523953.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13						c.(229-231)Cga>Aga		carbonic anhydrase I	Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)						188.0	189.0	189.0					8																	86250487		2203	4300	6503	SO:0001819	synonymous_variant	759				one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	g.chr8:86250487G>T	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.229C>A	8.37:g.86250487G>T		False	False		Somatic	0				CA1_ENST00000431316.1_Silent_p.R77R|CA1_ENST00000256119.5_Silent_p.R77R|CA1_ENST00000432364.2_Silent_p.R77R|CA1_ENST00000522389.1_Intron|CA1_ENST00000542576.1_Silent_p.R77R|CA1_ENST00000523022.1_Silent_p.R77R|CA1_ENST00000518341.1_5'UTR	p.R77R			WXS	Illumina HiSeq	Phase_I	P00915	CAH1_HUMAN			4	1275	-		all_lung(136;4.89e-06)	77						Silent	SNP	ENST00000523953.1	37	c.229C>A	CCDS6237.1	.	.	.	.	.	.	.	.	.	.	G	0.298	-0.975851	0.02215	.	.	ENSG00000133742	ENST00000521679	.	.	.	5.14	3.31	0.37934	.	.	.	.	.	T	0.68522	0.3010	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65549	-0.6141	4	.	.	.	-1.2951	13.4955	0.61424	0.0:0.0:0.7637:0.2363	.	.	.	.	Q	13	.	.	P	-	2	0	CA1	86437739	0.998000	0.40836	0.030000	0.17652	0.077000	0.17291	1.135000	0.31454	0.534000	0.28695	0.591000	0.81541	CCG		0.393	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	0	NM_001738		8:86250487
DNAH7	56171	broad.mit.edu	37	2	196825552	196825552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:196825552C>A	ENST00000312428.6	-	18	2423	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	775	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCTAAATTCGACAGCAGTT	0.393																																						ENST00000312428.6		NA																	0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(2323-2325)Gaa>Taa		dynein, axonemal, heavy chain 7							149.0	138.0	142.0					2																	196825552		1853	4104	5957	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825552C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2323G>T	2.37:g.196825552C>A	ENSP00000311273:p.Glu775*	False	False		Somatic	0					p.E775*	NM_018897.2	NP_061720.2	WXS	Illumina HiSeq	Phase_I	Q8WXX0	DYH7_HUMAN			18	2423	-			775			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.2323G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	41	8.546907	0.98857	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.74	5.74	0.90152	.	0.062767	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.9196	0.97082	0.0:1.0:0.0:0.0	.	.	.	.	X	775	.	ENSP00000311273:E775X	E	-	1	0	DNAH7	196533797	0.999000	0.42202	0.920000	0.36463	0.863000	0.49368	4.270000	0.58896	2.708000	0.92522	0.650000	0.86243	GAA		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	0	NM_018897		2:196825552
RTTN	25914	broad.mit.edu	37	18	67742608	67742608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:67742608G>T	ENST00000255674.6	-	33	4830	c.4544C>A	c.(4543-4545)tCa>tAa	p.S1515*	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Nonsense_Mutation_p.S1515*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1515					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATTGCTTTCTGAATTTCTATC	0.254																																						ENST00000255674.6		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4543-4545)tCa>tAa		rotatin							66.0	63.0	64.0					18																	67742608		1796	4068	5864	SO:0001587	stop_gained	25914						binding	g.chr18:67742608G>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4544C>A	18.37:g.67742608G>T	ENSP00000255674:p.Ser1515*	False	False		Somatic	0				RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Nonsense_Mutation_p.S1515*	p.S1515*	NM_173630.3	NP_775901.3	WXS	Illumina HiSeq	Phase_I	Q86VV8	RTTN_HUMAN			33	4830	-		Esophageal squamous(42;0.129)	1515					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	ENST00000255674.6	37	c.4544C>A	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	41	8.763837	0.98945	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	.	.	.	5.52	3.73	0.42828	.	1.265960	0.05147	N	0.495368	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1648	0.48537	0.2339:0.0:0.7661:0.0	.	.	.	.	X	1515	.	ENSP00000255674:S1515X	S	-	2	0	RTTN	65893588	0.407000	0.25352	0.006000	0.13384	0.034000	0.12701	1.450000	0.35134	0.303000	0.22785	-1.164000	0.01763	TCA		0.254	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	0	NM_173630		18:67742608
EPHA5	2044	broad.mit.edu	37	4	66509135	66509135	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:66509135C>A	ENST00000273854.3	-	2	792	c.192G>T	c.(190-192)ttG>ttT	p.L64F	EPHA5_ENST00000511294.1_Missense_Mutation_p.L64F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L64F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L64F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	64	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGCGTGAATCCAATAAATTCA	0.308										TSP Lung(17;0.13)																												ENST00000273854.3		NA																	0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(190-192)ttG>ttT		EPH receptor A5							48.0	49.0	49.0					4																	66509135		2203	4299	6502	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66509135C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.192G>T	4.37:g.66509135C>A	ENSP00000273854:p.Leu64Phe	False	False	TSP Lung(17;0.13)	Somatic	0				EPHA5_ENST00000511294.1_Missense_Mutation_p.L64F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L64F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L64F	p.L64F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	WXS	Illumina HiSeq	Phase_I	P54756	EPHA5_HUMAN			2	792	-			64					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.192G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.704062	0.68615	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.52	4.45	0.53987	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.43747	D	0.000538	T	0.32346	0.0826	M	0.86502	2.82	0.46356	D	0.999002	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.989;0.999;1.0	T	0.07481	-1.0770	10	0.87932	D	0	.	13.0437	0.58915	0.0:0.8901:0.0:0.1099	.	64;64;64;64	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	F	64	ENSP00000273854:L64F;ENSP00000389208:L64F;ENSP00000346899:L64F;ENSP00000427638:L64F	ENSP00000273854:L64F	L	-	3	2	EPHA5	66191730	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.486000	0.53215	2.753000	0.94483	0.467000	0.42956	TTG		0.308	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	0	NM_004439		4:66509135
CAPS2	84698	broad.mit.edu	37	12	75678746	75678746	+	Silent	SNP	G	G	T	rs201652520		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:75678746G>T	ENST00000409445.3	-	16	1763	c.1567C>A	c.(1567-1569)Cga>Aga	p.R523R	RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Silent_p.R113R|CAPS2_ENST00000393284.3_Silent_p.R291R|CAPS2_ENST00000409799.1_Silent_p.R441R	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	523	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GTTACCTTTCGAACATATGAT	0.274																																						ENST00000393284.3		NA																	0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(871-873)Cga>Aga		calcyphosine 2							90.0	80.0	84.0					12																	75678746		2201	4300	6501	SO:0001819	synonymous_variant	84698						calcium ion binding	g.chr12:75678746G>T	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1567C>A	12.37:g.75678746G>T		False	False		Somatic	0				CAPS2_ENST00000409799.1_Silent_p.R441R|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409445.3_Silent_p.R523R|CAPS2_ENST00000442339.2_Silent_p.R113R|RP11-560G2.1_ENST00000549953.1_RNA	p.R291R			WXS	Illumina HiSeq	Phase_I	Q9BXY5	CAYP2_HUMAN			15	1472	-			523					Q6PH84|Q8N242|Q8NAY5	Silent	SNP	ENST00000409445.3	37	c.871C>A	CCDS9008.2																																																																																				0.274	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2	0			12:75678746
TRBV10-1	28585	broad.mit.edu	37	7	142231714	142231714	+	RNA	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142231714G>T	ENST00000390364.3	-	0	270									T cell receptor beta variable 10-1(gene/pseudogene)																		AACACCATATGAGTAATGGAT	0.512																																						ENST00000390364.3		NA																	0					NA															180.0	178.0	178.0					7																	142231714		2020	4187	6207			0							g.chr7:142231714G>T	U17050		7q34	2012-02-07	2008-09-12		ENSG00000211717	ENSG00000211717		"""T cell receptors / TRB locus"""	12177	other	T cell receptor gene			"""T cell receptor beta variable 10-1"""			8650574	Standard	NG_001333		Approved	TRBV101, TCRBV10S1, TCRBV12S2A1T, TCRBV12S2			OTTHUMG00000158514		7.37:g.142231714G>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	270	-			NA						RNA	SNP	ENST00000390364.3	37																																																																																						0.512	TRBV10-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351220.2	0	NG_001333		7:142231714
MPZL2	10205	broad.mit.edu	37	11	118130817	118130817	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:118130817C>A	ENST00000278937.2	-	4	664	c.536G>T	c.(535-537)cGg>cTg	p.R179L	MPZL2_ENST00000525647.1_5'Flank|MPZL2_ENST00000438295.2_Missense_Mutation_p.R179L	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	179					anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCGCTTTTTCCGGTAATGCTG	0.483																																						ENST00000278937.2		NA																	0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11						c.(535-537)cGg>cTg		myelin protein zero-like 2							222.0	223.0	222.0					11																	118130817		2200	4296	6496	SO:0001583	missense	10205				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		g.chr11:118130817C>A	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.536G>T	11.37:g.118130817C>A	ENSP00000278937:p.Arg179Leu	False	False		Somatic	0				MPZL2_ENST00000438295.2_Missense_Mutation_p.R179L	p.R179L	NM_005797.3	NP_005788.1	WXS	Illumina HiSeq	Phase_I	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	4	664	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	179					A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	c.536G>T	CCDS8393.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468572	0.63625	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	D;D	0.97404	-4.37;-4.37	5.81	4.9	0.64082	.	0.283692	0.38720	N	0.001590	D	0.92561	0.7637	L	0.27053	0.805	0.40702	D	0.982498	P	0.38745	0.645	B	0.33042	0.157	D	0.91619	0.5309	10	0.22109	T	0.4	-19.4703	14.541	0.67995	0.0:0.9304:0.0:0.0696	.	179	O60487	MPZL2_HUMAN	L	179	ENSP00000278937:R179L;ENSP00000408362:R179L	ENSP00000278937:R179L	R	-	2	0	MPZL2	117636027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.801000	0.38843	1.454000	0.47793	0.655000	0.94253	CGG		0.483	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	0	NM_005797		11:118130817
CADPS	8618	broad.mit.edu	37	3	62556597	62556597	+	Missense_Mutation	SNP	C	C	A	rs567840502		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:62556597C>A	ENST00000383710.4	-	9	1943	c.1594G>T	c.(1594-1596)Ggt>Tgt	p.G532C	CADPS_ENST00000357948.3_Missense_Mutation_p.G532C|CADPS_ENST00000283269.9_Missense_Mutation_p.G532C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	532	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		ACATTCTTACCGATGGCCCAT	0.398																																						ENST00000383710.4		NA																	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.(1594-1596)Ggt>Tgt		Ca++-dependent secretion activator							147.0	149.0	148.0					3																	62556597		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62556597C>A	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.1594G>T	3.37:g.62556597C>A	ENSP00000373215:p.Gly532Cys	False	False		Somatic	0				CADPS_ENST00000357948.3_Missense_Mutation_p.G532C|CADPS_ENST00000283269.9_Missense_Mutation_p.G532C	p.G532C	NM_003716.3	NP_003707.2	WXS	Illumina HiSeq	Phase_I	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	9	1943	-		Lung SC(41;0.0452)	532			PH.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1594G>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029139	0.75504	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	T;T;T;T	0.77229	-0.15;-0.09;-0.13;-1.08	5.38	5.38	0.77491	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.88680	0.6502	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.89811	0.3982	10	0.87932	D	0	.	17.2657	0.87086	0.0:1.0:0.0:0.0	.	532;532;532;532	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	C	532;532;532;532;27	ENSP00000373215:G532C;ENSP00000350632:G532C;ENSP00000283269:G532C;ENSP00000439528:G27C	ENSP00000283269:G532C	G	-	1	0	CADPS	62531637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.718000	0.68455	2.668000	0.90789	0.655000	0.94253	GGT		0.398	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	0	NM_003716, NM_183393, NM_183394		3:62556597
LYSMD3	116068	broad.mit.edu	37	5	89815139	89815139	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:89815139C>A	ENST00000315948.6	-	3	562	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_Missense_Mutation_p.R120L	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	140						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TCCTGTTGTTCGGAAGAGTAT	0.373																																						ENST00000315948.6		NA																	0				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(418-420)Gaa>Taa		LysM, putative peptidoglycan-binding, domain containing 3							124.0	116.0	119.0					5																	89815139		1856	4092	5948	SO:0001587	stop_gained	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89815139C>A	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.418G>T	5.37:g.89815139C>A	ENSP00000314518:p.Glu140*	False	False		Somatic	0				LYSMD3_ENST00000509384.1_Missense_Mutation_p.R120L|LYSMD3_ENST00000500869.2_Intron	p.E140*	NM_198273.1	NP_938014.1	WXS	Illumina HiSeq	Phase_I	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	562	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	140					Q5H9U0|Q6PEK0|Q9NTE9	Nonsense_Mutation	SNP	ENST00000315948.6	37	c.418G>T	CCDS43338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.42|16.42	3.119638|3.119638	0.56613|0.56613	.|.	.|.	ENSG00000176018;ENSG00000259141|ENSG00000176018	ENST00000315948;ENST00000554351|ENST00000509384	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.400265|.	0.29537|.	N|.	0.011876|.	.|T	.|0.75939	.|0.3918	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.54706	.|0.759	.|T	.|0.78585	.|-0.2147	.|7	0.14656|0.87932	T|D	0.56|0	-10.0408|-10.0408	19.8807|19.8807	0.96899|0.96899	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|120	.|Q7Z3D4-2	.|.	X|L	140|120	.|.	ENSP00000314518:E140X|ENSP00000427683:R120L	E|R	-|-	1|2	0|0	AC027323.1;LYSMD3|LYSMD3	89850895|89850895	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.226000|0.226000	0.24999|0.24999	6.891000|6.891000	0.75639|0.75639	2.692000|2.692000	0.91855|0.91855	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.373	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	0	XM_371760		5:89815139
TMEM38A	79041	broad.mit.edu	37	19	16799034	16799034	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:16799034C>A	ENST00000187762.2	+	6	843	c.752C>A	c.(751-753)tCg>tAg	p.S251*		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	251						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTGTTTGGTTCGGCCTGCGGG	0.642																																						ENST00000187762.2		NA																	0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(751-753)tCg>tAg		transmembrane protein 38A							158.0	164.0	162.0					19																	16799034		2203	4300	6503	SO:0001587	stop_gained	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16799034C>A	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.752C>A	19.37:g.16799034C>A	ENSP00000187762:p.Ser251*	False	False		Somatic	0					p.S251*	NM_024074.1	NP_076979.1	WXS	Illumina HiSeq	Phase_I	Q9H6F2	TM38A_HUMAN			6	843	+			251					A8K9P9	Nonsense_Mutation	SNP	ENST00000187762.2	37	c.752C>A	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	c	13.31	2.198085	0.38806	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.12	1.93	0.25924	.	0.520628	0.22109	N	0.064515	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	0.1108	7.7281	0.28771	0.161:0.7511:0.0:0.0879	.	.	.	.	X	251	.	ENSP00000187762:S251X	S	+	2	0	TMEM38A	16660034	0.085000	0.21516	0.001000	0.08648	0.069000	0.16628	2.684000	0.46951	0.227000	0.20999	0.462000	0.41574	TCG		0.642	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	0	NM_024074		19:16799034
RAPGEF2	9693	broad.mit.edu	37	4	160251634	160251634	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:160251634C>A	ENST00000264431.4	+	7	1387	c.968C>A	c.(967-969)cCg>cAg	p.P323Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	323	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTTAATGACCCGAGCCTCAGG	0.343																																						ENST00000264431.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(967-969)cCg>cAg		Rap guanine nucleotide exchange factor (GEF) 2							109.0	102.0	105.0					4																	160251634		1822	4076	5898	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160251634C>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.968C>A	4.37:g.160251634C>A	ENSP00000264431:p.Pro323Gln	True	False		Somatic	0					p.P323Q	NM_014247.2	NP_055062.1	WXS	Illumina HiSeq	Phase_I	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	7	1387	+	all_hematologic(180;0.24)		323			N-terminal Ras-GEF.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.968C>A	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260007	0.80246	.	.	ENSG00000109756	ENST00000264431	T	0.51071	0.72	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	L	0.46819	1.47	0.80722	D	1	B	0.32829	0.386	B	0.43413	0.419	T	0.45483	-0.9258	10	0.37606	T	0.19	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	323	Q9Y4G8	RPGF2_HUMAN	Q	323	ENSP00000264431:P323Q	ENSP00000264431:P323Q	P	+	2	0	RAPGEF2	160471084	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.825000	0.62708	2.894000	0.99253	0.655000	0.94253	CCG		0.343	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	0	NM_014247		4:160251634
RPGRIP1L	23322	broad.mit.edu	37	16	53730088	53730088	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:53730088G>T	ENST00000379925.3	-	3	255	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R69S	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	69					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.R69C(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCCTGCTTGCGGGCATGCTGT	0.368																																						ENST00000262135.4		NA																	1	Substitution - Missense(1)	p.R69C(1)	large_intestine(1)	endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(205-207)Cgc>Agc		RPGRIP1-like							126.0	129.0	128.0					16																	53730088		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53730088G>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.205C>A	16.37:g.53730088G>T	ENSP00000369257:p.Arg69Ser	True	False		Somatic	0				RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R69S	p.R69S	NM_001127897.1	NP_001121369.1	WXS	Illumina HiSeq	Phase_I	Q68CZ1	FTM_HUMAN			3	298	-		all_cancers(37;0.0973)	69					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.205C>A	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	6.569	0.473342	0.12461	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.87887	-2.31;-2.31	5.73	0.185	0.15096	.	0.439409	0.24615	N	0.037005	T	0.78329	0.4266	L	0.48642	1.525	0.25924	N	0.983084	B;B;B;B	0.18310	0.005;0.007;0.027;0.01	B;B;B;B	0.15052	0.005;0.011;0.011;0.012	T	0.62765	-0.6785	10	0.27082	T	0.32	-0.0133	6.443	0.21861	0.2592:0.0:0.553:0.1878	.	69;69;69;69	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	S	69	ENSP00000369257:R69S;ENSP00000262135:R69S	ENSP00000262135:R69S	R	-	1	0	RPGRIP1L	52287589	0.994000	0.37717	0.999000	0.59377	0.978000	0.69477	0.921000	0.28718	0.363000	0.24346	-0.244000	0.11960	CGC		0.368	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	0	NM_015272		16:53730088
ACSL6	23305	broad.mit.edu	37	5	131323807	131323807	+	Missense_Mutation	SNP	G	G	T	rs374665597		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:131323807G>T	ENST00000379240.1	-	7	843	c.690C>A	c.(688-690)ttC>ttA	p.F230L	ACSL6_ENST00000431707.1_Missense_Mutation_p.F210L|ACSL6_ENST00000379249.3_Missense_Mutation_p.F230L|ACSL6_ENST00000379255.1_Missense_Mutation_p.F195L|ACSL6_ENST00000379244.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379272.2_Missense_Mutation_p.F245L|ACSL6_ENST00000379264.2_Missense_Mutation_p.F255L|ACSL6_ENST00000357096.1_Missense_Mutation_p.F195L|ACSL6_ENST00000296869.4_Missense_Mutation_p.F255L|ACSL6_ENST00000379246.1_Missense_Mutation_p.F241L|ACSL6_ENST00000544770.1_Missense_Mutation_p.F139L|ACSL6_ENST00000543479.1_Missense_Mutation_p.F230L			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	230					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCTTCTTCGAATGGGTCCA	0.562																																						ENST00000379264.2		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(763-765)ttC>ttA		acyl-CoA synthetase long-chain family member 6							307.0	281.0	290.0					5																	131323807		2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131323807G>T	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.690C>A	5.37:g.131323807G>T	ENSP00000368542:p.Phe230Leu	False	False		Somatic	0				ACSL6_ENST00000379255.1_Missense_Mutation_p.F195L|ACSL6_ENST00000431707.1_Missense_Mutation_p.F210L|ACSL6_ENST00000544770.1_Missense_Mutation_p.F139L|ACSL6_ENST00000379244.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379240.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379249.3_Missense_Mutation_p.F230L|ACSL6_ENST00000379246.1_Missense_Mutation_p.F241L|ACSL6_ENST00000357096.1_Missense_Mutation_p.F195L|ACSL6_ENST00000379272.2_Missense_Mutation_p.F245L|ACSL6_ENST00000543479.1_Missense_Mutation_p.F230L|ACSL6_ENST00000296869.4_Missense_Mutation_p.F255L	p.F255L	NM_001009185.2	NP_001009185.1	WXS	Illumina HiSeq	Phase_I	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	873	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	230					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.765C>A		.	.	.	.	.	.	.	.	.	.	g	7.687	0.690340	0.15039	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099	T;T;T;T;T;T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.92	-11.8	0.00035	AMP-dependent synthetase/ligase (1);	0.095334	0.85682	D	0.000000	T	0.20536	0.0494	N	0.17312	0.475	0.30886	N	0.730933	B;B;B;B;B;B;B	0.22909	0.063;0.005;0.007;0.077;0.005;0.005;0.005	B;B;B;B;B;B;B	0.35353	0.127;0.014;0.015;0.201;0.009;0.014;0.014	T	0.40001	-0.9586	10	0.19147	T	0.46	.	18.3368	0.90291	0.7201:0.0:0.2185:0.0614	.	230;245;220;230;195;255;255	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	L	230;255;245;195;195;255;241;230;139;230;210;230;195	ENSP00000368551:F230L;ENSP00000368566:F255L;ENSP00000368574:F245L;ENSP00000349608:F195L;ENSP00000368557:F195L;ENSP00000296869:F255L;ENSP00000368548:F241L;ENSP00000368546:F230L;ENSP00000445154:F139L;ENSP00000368542:F230L;ENSP00000413329:F210L;ENSP00000442124:F230L;ENSP00000397507:F195L	ENSP00000296869:F255L	F	-	3	2	ACSL6	131351706	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.418000	0.02462	-3.672000	0.00123	-3.369000	0.00041	TTC		0.562	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	0	NM_015256		5:131323807
NIFK	84365	broad.mit.edu	37	2	122488581	122488581	+	Missense_Mutation	SNP	C	C	A	rs182148570		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:122488581C>A	ENST00000285814.4	-	4	524	c.452G>T	c.(451-453)cGg>cTg	p.R151L	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		151					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R151L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TGTCCGATTCCGATTATACCG	0.353																																						ENST00000285814.4		NA																	1	Substitution - Missense(1)	p.R151L(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(451-453)cGg>cTg									110.0	107.0	108.0					2																	122488581		2203	4299	6502	SO:0001583	missense	0				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122488581C>A																												ENST00000285814.4:c.452G>T	2.37:g.122488581C>A	ENSP00000285814:p.Arg151Leu	True	False		Somatic	0					p.R151L	NM_032390.4	NP_115766.3	WXS	Illumina HiSeq	Phase_I	Q9BYG3	MK67I_HUMAN			4	524	-			151					A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	ENST00000285814.4	37	c.452G>T	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791026	0.31685	.	.	ENSG00000155438	ENST00000285814;ENST00000409201;ENST00000447132;ENST00000451734	T;T;T	0.46451	2.33;0.87;1.48	5.65	-0.183	0.13284	.	0.805371	0.11532	N	0.554599	T	0.29223	0.0727	L	0.32530	0.975	0.09310	N	1	B;B	0.32040	0.353;0.2	B;B	0.28991	0.097;0.029	T	0.15037	-1.0451	10	0.62326	D	0.03	-1.0E-4	8.7795	0.34783	0.0:0.2839:0.0:0.7161	.	151;151	B4DSM4;Q9BYG3	.;MK67I_HUMAN	L	151;151;46;119	ENSP00000285814:R151L;ENSP00000406227:R46L;ENSP00000398116:R119L	ENSP00000285814:R151L	R	-	2	0	MKI67IP	122205051	0.009000	0.17119	0.002000	0.10522	0.687000	0.40016	0.009000	0.13219	-0.249000	0.09569	-0.345000	0.07892	CGG		0.353	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2	0			2:122488581
MRPL35	51318	broad.mit.edu	37	2	86433238	86433238	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:86433238G>T	ENST00000337109.4	+	2	87	c.53G>T	c.(52-54)cGg>cTg	p.R18L	MRPL35_ENST00000409180.1_Missense_Mutation_p.R18L|MRPL35_ENST00000605125.1_Missense_Mutation_p.R18L|MRPL35_ENST00000254644.8_Missense_Mutation_p.R18L	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	18					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GGAATCCTACGGCCCCTGAAT	0.368																																						ENST00000337109.4		NA																	0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						c.(52-54)cGg>cTg		mitochondrial ribosomal protein L35							137.0	135.0	136.0					2																	86433238		2203	4300	6503	SO:0001583	missense	51318				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr2:86433238G>T	AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"""Mitochondrial ribosomal proteins / large subunits"""	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.53G>T	2.37:g.86433238G>T	ENSP00000338389:p.Arg18Leu	False	False		Somatic	0				MRPL35_ENST00000605125.1_Missense_Mutation_p.R18L|MRPL35_ENST00000254644.8_Missense_Mutation_p.R18L|MRPL35_ENST00000409180.1_Missense_Mutation_p.R18L	p.R18L	NM_016622.3	NP_057706.2	WXS	Illumina HiSeq	Phase_I	Q9NZE8	RM35_HUMAN			2	87	+			18					A6NKV6|B2RB93|Q658U7|Q8WWA2	Missense_Mutation	SNP	ENST00000337109.4	37	c.53G>T	CCDS1988.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297990	0.81025	.	.	ENSG00000132313	ENST00000254644;ENST00000337109;ENST00000409180	T;T;T	0.17054	2.31;2.57;2.3	5.62	5.62	0.85841	.	0.049873	0.85682	D	0.000000	T	0.42966	0.1226	M	0.75264	2.295	0.43168	D	0.994969	D	0.76494	0.999	D	0.79784	0.993	T	0.25328	-1.0135	10	0.66056	D	0.02	-10.9098	15.5672	0.76303	0.0:0.0:1.0:0.0	.	18	Q9NZE8	RM35_HUMAN	L	18	ENSP00000254644:R18L;ENSP00000338389:R18L;ENSP00000386255:R18L	ENSP00000254644:R18L	R	+	2	0	MRPL35	86286749	0.967000	0.33354	0.992000	0.48379	0.914000	0.54420	3.300000	0.51834	2.820000	0.97059	0.650000	0.86243	CGG		0.368	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091002.2	0	NM_016622		2:86433238
ARHGAP15	55843	broad.mit.edu	37	2	144314047	144314047	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:144314047C>A	ENST00000295095.6	+	11	1163	c.996C>A	c.(994-996)gtC>gtA	p.V332V	RP11-570L15.1_ENST00000553076.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	332	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATTTATTGTCAACCAAGGTA	0.318																																						ENST00000295095.6		NA																	0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(994-996)gtC>gtA		Rho GTPase activating protein 15							166.0	171.0	169.0					2																	144314047		2203	4297	6500	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144314047C>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.996C>A	2.37:g.144314047C>A		False	False		Somatic	0				RP11-570L15.2_ENST00000546678.1_RNA|RP11-570L15.1_ENST00000553076.1_RNA	p.V332V	NM_018460.3	NP_060930.3	WXS	Illumina HiSeq	Phase_I	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	11	1163	+			332			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.996C>A	CCDS2184.1																																																																																				0.318	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	0	NM_018460		2:144314047
TTN	7273	broad.mit.edu	37	2	179480172	179480172	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:179480172C>A	ENST00000591111.1	-	209	43801	c.43577G>T	c.(43576-43578)cGa>cTa	p.R14526L	RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R16167L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13599L|TTN_ENST00000460472.2_Missense_Mutation_p.R7102L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7227L|TTN_ENST00000342175.6_Missense_Mutation_p.R7294L			Q8WZ42	TITIN_HUMAN	titin	14526	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGGCTGTTCGATCTCTCCA	0.433																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(48499-48501)cGa>cTa		titin							222.0	222.0	222.0					2																	179480172		1978	4153	6131	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179480172C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43577G>T	2.37:g.179480172C>A	ENSP00000465570:p.Arg14526Leu	False	False		Somatic	0				TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7227L|TTN_ENST00000591111.1_Missense_Mutation_p.R14526L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13599L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7294L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7102L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA	p.R16167L	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		259	48724	-			14526			Fibronectin type-III 17.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.48500G>T		.	.	.	.	.	.	.	.	.	.	C	12.85	2.060814	0.36373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39226	0.1070	N	0.05330	-0.07	0.32798	N	0.500288	P;P;P;P	0.38992	0.653;0.653;0.653;0.653	B;B;B;B	0.41619	0.361;0.361;0.361;0.361	T	0.56288	-0.8004	9	0.87932	D	0	.	14.3984	0.67027	0.0:0.7375:0.2625:0.0	.	7102;7227;7294;14526	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	13599;7102;7294;7227;7102	ENSP00000343764:R13599L;ENSP00000434586:R7102L;ENSP00000340554:R7294L;ENSP00000352154:R7227L	ENSP00000340554:R7294L	R	-	2	0	TTN	179188417	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.362000	0.52314	2.720000	0.93068	0.655000	0.94253	CGA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179480172
MKLN1	4289	broad.mit.edu	37	7	131148090	131148090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:131148090C>A	ENST00000352689.6	+	13	1680	c.1640C>A	c.(1639-1641)tCa>tAa	p.S547*	MKLN1_ENST00000421797.2_Nonsense_Mutation_p.S455*|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	547					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GTTAGAAATTCATTCTGGATT	0.348																																						ENST00000352689.6		NA																	0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(1639-1641)tCa>tAa		muskelin 1, intracellular mediator containing kelch motifs							104.0	109.0	107.0					7																	131148090		2203	4299	6502	SO:0001587	stop_gained	4289				signal transduction	cytoplasm	protein binding	g.chr7:131148090C>A	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1640C>A	7.37:g.131148090C>A	ENSP00000323527:p.Ser547*	True	False		Somatic	0				MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Nonsense_Mutation_p.S455*	p.S547*	NM_013255.4	NP_037387.2	WXS	Illumina HiSeq	Phase_I	Q9UL63	MKLN1_HUMAN			13	1680	+	Melanoma(18;0.162)		547					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Nonsense_Mutation	SNP	ENST00000352689.6	37	c.1640C>A	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	C	41	9.090263	0.99062	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3791	19.3216	0.94243	0.0:1.0:0.0:0.0	.	.	.	.	X	455;547;37	.	ENSP00000323527:S547X	S	+	2	0	MKLN1	130798630	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.463000	0.80869	2.818000	0.97014	0.591000	0.81541	TCA		0.348	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	0	NM_013255		7:131148090
CHPF2	54480	broad.mit.edu	37	7	150934530	150934530	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:150934530C>T	ENST00000035307.2	+	4	2595	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.P353L|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	361					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTTGGGCTCCCTGCTCCTTTC	0.617																																						ENST00000035307.2		NA																	0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(1081-1083)cCt>cTt		chondroitin polymerizing factor 2							73.0	72.0	72.0					7																	150934530		2203	4300	6503	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150934530C>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1082C>T	7.37:g.150934530C>T	ENSP00000035307:p.Pro361Leu	True	False		Somatic	0				CHPF2_ENST00000495645.1_Missense_Mutation_p.P353L	p.P361L	NM_019015.1	NP_061888.1	WXS	Illumina HiSeq	Phase_I	Q9P2E5	CHPF2_HUMAN			4	2595	+			361					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.1082C>T	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548837	0.65311	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.16597	2.33;2.33	5.63	5.63	0.86233	.	0.090906	0.64402	D	0.000001	T	0.20577	0.0495	L	0.39898	1.24	0.80722	D	1	P;P	0.47034	0.889;0.879	P;P	0.48677	0.534;0.586	T	0.00728	-1.1591	10	0.29301	T	0.29	-29.2158	12.3421	0.55099	0.266:0.734:0.0:0.0	.	361;353	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	L	353;361;361	ENSP00000418914:P353L;ENSP00000035307:P361L	ENSP00000035307:P361L	P	+	2	0	CHPF2	150565463	0.997000	0.39634	0.951000	0.38953	0.715000	0.41141	3.589000	0.53972	2.652000	0.90054	0.655000	0.94253	CCT		0.617	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	0	NM_019015		7:150934530
GABRG2	2566	broad.mit.edu	37	5	161578743	161578743	+	Intron	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:161578743G>T	ENST00000361925.4	+	9	1348				GABRG2_ENST00000414552.2_Missense_Mutation_p.R419L|GABRG2_ENST00000356592.3_Missense_Mutation_p.R379L|GABRG2_ENST00000393933.4_Intron			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2						adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAGCTTCTTCGGATGTTTTCC	0.279																																						ENST00000356592.3		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1135-1137)cGg>cTg		gamma-aminobutyric acid (GABA) A receptor, gamma 2							86.0	89.0	88.0					5																	161578743		2202	4297	6499	SO:0001627	intron_variant	0				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161578743G>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1129-1356G>T	5.37:g.161578743G>T		False	False		Somatic	0				GABRG2_ENST00000361925.4_Intron|GABRG2_ENST00000414552.2_Missense_Mutation_p.R419L|GABRG2_ENST00000393933.4_Intron	p.R379L	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	WXS	Illumina HiSeq	Phase_I	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	9	1596	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	376					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.1136G>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973387	0.53614	.	.	ENSG00000113327	ENST00000356592;ENST00000414552	D;D	0.86297	-2.1;-2.1	5.84	5.84	0.93424	.	1.959290	0.02012	N	0.047077	D	0.84777	0.5547	N	0.22421	0.69	0.80722	D	1	B;B	0.22146	0.0;0.065	B;B	0.18263	0.003;0.021	T	0.47787	-0.9090	10	0.25751	T	0.34	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	419;379	F5HB82;P18507-2	.;.	L	379;419	ENSP00000349000:R379L;ENSP00000410732:R419L	ENSP00000349000:R379L	R	+	2	0	GABRG2	161511321	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.843000	0.92142	2.764000	0.94973	0.650000	0.86243	CGG		0.279	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1	0			5:161578743
BTN1A1	696	broad.mit.edu	37	6	26501880	26501880	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:26501880C>T	ENST00000244513.6	+	2	208	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	48	Ig-like V-type 1.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GGACGCCGAGCTGCCCTGTCG	0.647																																						ENST00000244513.6		NA																	0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(142-144)Ctg>Ttg		butyrophilin, subfamily 1, member A1							36.0	37.0	37.0					6																	26501880		2199	4288	6487	SO:0001819	synonymous_variant	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26501880C>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.142C>T	6.37:g.26501880C>T		False	False		Somatic	0					p.L48L	NM_001732.2	NP_001723.2	WXS	Illumina HiSeq	Phase_I	Q13410	BT1A1_HUMAN			2	208	+			48			Ig-like V-type 1.		Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	ENST00000244513.6	37	c.142C>T	CCDS4614.1																																																																																				0.647	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	0	NM_001732		6:26501880
MCM9	254394	broad.mit.edu	37	6	119238766	119238766	+	Missense_Mutation	SNP	G	G	T	rs564191556		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:119238766G>T	ENST00000316316.6	-	5	1150	c.864C>A	c.(862-864)ttC>ttA	p.F288L	MCM9_ENST00000316068.3_Missense_Mutation_p.F288L	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	288					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AAAAATCTTCGAATTCCTTTT	0.378																																						ENST00000316316.6		NA																	0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(862-864)ttC>ttA		minichromosome maintenance complex component 9							118.0	111.0	113.0					6																	119238766		2203	4300	6503	SO:0001583	missense	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119238766G>T	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.864C>A	6.37:g.119238766G>T	ENSP00000314505:p.Phe288Leu	False	False		Somatic	0				MCM9_ENST00000316068.3_Missense_Mutation_p.F288L	p.F288L	NM_017696.2	NP_060166.2	WXS	Illumina HiSeq	Phase_I	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	5	1150	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	288					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	c.864C>A	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454336	0.84209	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.06142	3.73;3.34	5.81	4.65	0.58169	.	.	.	.	.	T	0.16085	0.0387	M	0.87682	2.9	0.52099	D	0.999949	D	0.89917	1.0	D	0.70016	0.967	T	0.02098	-1.1214	9	0.36615	T	0.2	.	11.7956	0.52098	0.9314:0.0:0.0686:0.0	.	288	Q9NXL9-2	.	L	288	ENSP00000314505:F288L;ENSP00000312870:F288L	ENSP00000312870:F288L	F	-	3	2	MCM9	119280465	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.102000	0.57776	1.044000	0.40200	-0.251000	0.11542	TTC		0.378	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	0	NM_153255		6:119238766
SLC16A7	9194	broad.mit.edu	37	12	60169011	60169011	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:60169011G>T	ENST00000261187.4	+	4	1099	c.935G>T	c.(934-936)cGa>cTa	p.R312L	SLC16A7_ENST00000547379.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000552432.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000552024.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000543448.1_Missense_Mutation_p.R213L	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	312					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.R312Q(1)|p.R312L(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	ATTCGACCTCGAATTCAGTAC	0.423																																						ENST00000261187.4		NA																	2	Substitution - Missense(2)	p.R312Q(1)|p.R312L(1)	large_intestine(1)|lung(1)	endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(934-936)cGa>cTa		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						144.0	144.0	144.0					12																	60169011		2203	4300	6503	SO:0001583	missense	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60169011G>T	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.935G>T	12.37:g.60169011G>T	ENSP00000261187:p.Arg312Leu	False	False		Somatic	0				SLC16A7_ENST00000552432.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000543448.1_Missense_Mutation_p.R213L|SLC16A7_ENST00000547379.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000552024.1_Missense_Mutation_p.R312L	p.R312L	NM_004731.4	NP_004722.2	WXS	Illumina HiSeq	Phase_I	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	4	1099	+			312					Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	c.935G>T	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710851	0.68730	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.261657	0.32533	N	0.005972	D	0.87071	0.6086	L	0.52364	1.645	0.43283	D	0.995255	D	0.65815	0.995	D	0.70935	0.971	D	0.85382	0.1120	9	.	.	.	.	11.3564	0.49617	0.1093:0.0:0.8907:0.0	.	312	O60669	MOT2_HUMAN	L	312;312;312;312;312;213	ENSP00000449547:R312L;ENSP00000448071:R312L;ENSP00000448742:R312L;ENSP00000446722:R312L;ENSP00000261187:R312L;ENSP00000443731:R213L	.	R	+	2	0	SLC16A7	58455278	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.668000	0.54554	2.880000	0.98712	0.650000	0.86243	CGA		0.423	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	0	NM_004731		12:60169011
GJA1	2697	broad.mit.edu	37	6	121768514	121768514	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:121768514G>T	ENST00000282561.3	+	2	678	c.521G>T	c.(520-522)tGg>tTg	p.W174L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	174					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTGATCCAGTGGTACATCTAT	0.498																																						ENST00000282561.3		NA																	0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(520-522)tGg>tTg		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						114.0	107.0	109.0					6																	121768514		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768514G>T	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.521G>T	6.37:g.121768514G>T	ENSP00000282561:p.Trp174Leu	False	False		Somatic	0					p.W174L	NM_000165.3	NP_000156.1	WXS	Illumina HiSeq	Phase_I	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	678	+			174					B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.521G>T	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565281	0.65651	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.95103	-3.61	5.66	5.66	0.87406	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.95853	0.8650	M	0.78223	2.4	0.80722	D	1	P	0.50710	0.938	P	0.52598	0.703	D	0.95969	0.8968	10	0.87932	D	0	.	19.7409	0.96230	0.0:0.0:1.0:0.0	.	174	P17302	CXA1_HUMAN	L	158;174	ENSP00000282561:W174L	ENSP00000282561:W174L	W	+	2	0	GJA1	121810213	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	6.759000	0.74934	2.682000	0.91365	0.460000	0.39030	TGG		0.498	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	0	NM_000165		6:121768514
SEC16B	89866	broad.mit.edu	37	1	177913756	177913756	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:177913756C>A	ENST00000308284.6	-	15	1910	c.1821G>T	c.(1819-1821)acG>acT	p.T607T	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	607					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)		p.T608T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CGAAGATTTCCGTCCTCTGGA	0.483																																						ENST00000308284.6		NA																	1	Substitution - coding silent(1)	p.T608T(1)	lung(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1819-1821)acG>acT		SEC16 homolog B (S. cerevisiae)							149.0	153.0	152.0					1																	177913756		1904	4130	6034	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177913756C>A	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.1821G>T	1.37:g.177913756C>A		False	False		Somatic	0				RP4-798P15.3_ENST00000354921.3_RNA	p.T607T	NM_033127.2	NP_149118.2	WXS	Illumina HiSeq	Phase_I	Q96JE7	SC16B_HUMAN			15	1910	-			607					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.1821G>T	CCDS44281.1																																																																																				0.483	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	0	NM_033127		1:177913756
DOCK3	1795	broad.mit.edu	37	3	51393896	51393896	+	Missense_Mutation	SNP	G	G	T	rs374385144		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:51393896G>T	ENST00000266037.9	+	43	4498	c.4475G>T	c.(4474-4476)cGg>cTg	p.R1492L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1492	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGCATCTCTCGGTGGTTTGAA	0.557																																						ENST00000266037.9		NA																	0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(4474-4476)cGg>cTg		dedicator of cytokinesis 3							128.0	122.0	124.0					3																	51393896		2024	4198	6222	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51393896G>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4475G>T	3.37:g.51393896G>T	ENSP00000266037:p.Arg1492Leu	True	False		Somatic	0					p.R1492L	NM_004947.4	NP_004938.1	WXS	Illumina HiSeq	Phase_I	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	43	4498	+			1492			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.4475G>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529687	0.85706	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.19669	2.13	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	M	0.83312	2.635	0.80722	D	1	B	0.27498	0.18	B	0.28385	0.089	T	0.26815	-1.0092	10	0.72032	D	0.01	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	1492	Q8IZD9	DOCK3_HUMAN	L	1492;288	ENSP00000266037:R1492L	ENSP00000266037:R1492L	R	+	2	0	DOCK3	51368936	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	9.813000	0.99286	2.733000	0.93635	0.655000	0.94253	CGG		0.557	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	0	NM_004947		3:51393896
FOXP3	50943	broad.mit.edu	37	X	49113997	49113997	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:49113997C>T	ENST00000376207.4	-	4	528	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	FOXP3_ENST00000376199.2_Missense_Mutation_p.R79Q|FOXP3_ENST00000518685.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000455775.2_Missense_Mutation_p.R114Q|FOXP3_ENST00000376197.1_Missense_Mutation_p.R64Q|FOXP3_ENST00000557224.1_Missense_Mutation_p.R79Q	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	114					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|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 beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CACAGGGGTCCGGGCGTGGGC	0.682																																					GBM(182;1432 2112 16160 23073 31774)	ENST00000376207.4		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(340-342)cGg>cAg		forkhead box P3																																				SO:0001583	missense	50943				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding	g.chrX:49113997C>T		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"""Forkhead boxes"""	6106	protein-coding gene	gene with protein product		300292	"""immune dysregulation, polyendocrinopathy, enteropathy, X-linked"""	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.341G>A	X.37:g.49113997C>T	ENSP00000365380:p.Arg114Gln	True	False		Somatic	0				FOXP3_ENST00000376197.1_Missense_Mutation_p.R64Q|FOXP3_ENST00000518685.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000455775.2_Missense_Mutation_p.R114Q|FOXP3_ENST00000557224.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000376199.2_Missense_Mutation_p.R79Q	p.R114Q	NM_014009.3	NP_054728.2	WXS	Illumina HiSeq	Phase_I	Q9BZS1	FOXP3_HUMAN			4	528	-	Ovarian(276;0.236)		114					A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	c.341G>A	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079527	0.36662	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.98120	-3.67;-3.73;-4.73;-3.73;-4.68;-4.13	5.34	4.47	0.54385	.	0.229124	0.30791	N	0.008864	D	0.92561	0.7637	N	0.19112	0.55	0.28547	N	0.91181	B;B;B;B;B	0.31435	0.174;0.323;0.226;0.174;0.266	B;B;B;B;B	0.21708	0.007;0.018;0.036;0.007;0.027	D	0.87553	0.2466	10	0.38643	T	0.18	.	8.6545	0.34055	0.0:0.8895:0.0:0.1105	.	114;114;79;114;79	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	Q	114;79;79;79;64;114	ENSP00000365380:R114Q;ENSP00000365372:R79Q;ENSP00000451208:R79Q;ENSP00000428952:R79Q;ENSP00000365369:R64Q;ENSP00000396415:R114Q	ENSP00000365369:R64Q	R	-	2	0	FOXP3	49000941	0.999000	0.42202	0.966000	0.40874	0.913000	0.54294	0.873000	0.28052	1.119000	0.41883	0.513000	0.50165	CGG		0.682	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	0	NM_014009		X:49113997
IDH3G	3421	broad.mit.edu	37	X	153053545	153053545	+	Missense_Mutation	SNP	C	C	A	rs370866394		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:153053545C>A	ENST00000217901.5	-	6	588	c.392G>T	c.(391-393)cGa>cTa	p.R131L	IDH3G_ENST00000370092.3_Missense_Mutation_p.R131L|IDH3G_ENST00000370093.1_Missense_Mutation_p.R131L|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_Missense_Mutation_p.R73L	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	131					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R131Q(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGTTGTTTCGAGATTTGTG	0.592																																						ENST00000370092.3		NA																	1	Substitution - Missense(1)	p.R131Q(1)	endometrium(1)	breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17						c.(391-393)cGa>cTa		isocitrate dehydrogenase 3 (NAD+) gamma	NADH(DB00157)						247.0	218.0	228.0					X																	153053545		2203	4300	6503	SO:0001583	missense	3421				carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chrX:153053545C>A		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.392G>T	X.37:g.153053545C>A	ENSP00000217901:p.Arg131Leu	True	False		Somatic	0				IDH3G_ENST00000217901.5_Missense_Mutation_p.R131L|IDH3G_ENST00000370093.1_Missense_Mutation_p.R131L|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_Missense_Mutation_p.R73L	p.R131L	NM_174869.2	NP_777358.1	WXS	Illumina HiSeq	Phase_I	P51553	IDH3G_HUMAN			6	577	-	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		131					E9PDD5|Q9BUU5	Missense_Mutation	SNP	ENST00000217901.5	37	c.392G>T	CCDS14730.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576108	0.45902	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000427365;ENST00000393771;ENST00000444450;ENST00000444338	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.74	4.85	0.62838	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	N	0.20445	0.575	0.80722	D	1	B;P	0.45827	0.145;0.867	B;B	0.38880	0.111;0.284	T	0.53019	-0.8497	10	0.02654	T	1	.	14.6761	0.68981	0.0:0.8583:0.1417:0.0	.	131;131	E9PDD5;P51553	.;IDH3G_HUMAN	L	131;131;131;73;27;108;71	ENSP00000359110:R131L;ENSP00000217901:R131L;ENSP00000359111:R131L;ENSP00000408529:R73L;ENSP00000401862:R108L;ENSP00000402747:R71L	ENSP00000217901:R131L	R	-	2	0	IDH3G	152706739	1.000000	0.71417	0.994000	0.49952	0.861000	0.49209	7.559000	0.82265	2.411000	0.81874	0.529000	0.55759	CGA		0.592	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27	0			X:153053545
STAP1	26228	broad.mit.edu	37	4	68459057	68459057	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:68459057C>A	ENST00000265404.2	+	8	891	c.809C>A	c.(808-810)tCa>tAa	p.S270*	STAP1_ENST00000396225.1_Nonsense_Mutation_p.S270*	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	270	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TTTATATGTTCAACTGATGAA	0.333																																						ENST00000265404.2		NA																	0				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						c.(808-810)tCa>tAa		signal transducing adaptor family member 1							142.0	142.0	142.0					4																	68459057		2203	4300	6503	SO:0001587	stop_gained	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68459057C>A	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.809C>A	4.37:g.68459057C>A	ENSP00000265404:p.Ser270*	False	False		Somatic	0				STAP1_ENST00000396225.1_Nonsense_Mutation_p.S270*	p.S270*	NM_012108.2	NP_036240.1	WXS	Illumina HiSeq	Phase_I	Q9ULZ2	STAP1_HUMAN			8	891	+			270			SH2.		B2R980	Nonsense_Mutation	SNP	ENST00000265404.2	37	c.809C>A	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	C	35	5.500692	0.96371	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	.	.	.	5.65	4.76	0.60689	.	0.741507	0.12341	N	0.477469	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-5.1624	11.7349	0.51759	0.0:0.8225:0.1775:0.0	.	.	.	.	X	270	.	ENSP00000265404:S270X	S	+	2	0	STAP1	68141652	0.972000	0.33761	0.991000	0.47740	0.883000	0.51084	2.323000	0.43823	2.665000	0.90641	0.650000	0.86243	TCA		0.333	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	0	NM_012108		4:68459057
ANKRD36B	57730	broad.mit.edu	37	2	98177188	98177188	+	RNA	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:98177188C>A	ENST00000443455.1	-	0	915							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		GAATCTTTGTCGTCACTTGTA	0.323																																						ENST00000443455.1		NA																	0					NA								ankyrin repeat domain 36B							78.0	83.0	81.0					2																	98177188		1013	2192	3205			57730							g.chr2:98177188C>A	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98177188C>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	Q8N2N9	AN36B_HUMAN			0	915	-			NA					Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	RNA	SNP	ENST00000443455.1	37																																																																																						0.323	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	0	NM_025190		2:98177188
ZNF358	140467	broad.mit.edu	37	19	7584555	7584555	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7584555G>T	ENST00000597229.1	+	2	597	c.427G>T	c.(427-429)Gcc>Tcc	p.A143S	MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Missense_Mutation_p.A143S|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	143					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GGTGCTccccgcccccgccag	0.741																																						ENST00000597229.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(427-429)Gcc>Tcc		zinc finger protein 358							11.0	13.0	12.0					19																	7584555		2166	4242	6408	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7584555G>T	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.427G>T	19.37:g.7584555G>T	ENSP00000472305:p.Ala143Ser	True	False		Somatic	0				ZNF358_ENST00000394341.2_Missense_Mutation_p.A143S	p.A143S	NM_018083.4	NP_060553.4	WXS	Illumina HiSeq	Phase_I	Q9NW07	ZN358_HUMAN			2	597	+			143					Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.427G>T	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318275	0.60524	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07021	3.23	4.59	3.53	0.40419	.	.	.	.	.	T	0.06325	0.0163	N	0.17594	0.5	0.19300	N	0.999978	B	0.33940	0.433	B	0.31290	0.127	T	0.32798	-0.9893	9	0.49607	T	0.09	-17.385	12.6401	0.56705	0.0:0.1684:0.8316:0.0	.	143	Q9NW07	ZN358_HUMAN	S	143	ENSP00000377873:A143S	ENSP00000354703:A143S	A	+	1	0	ZNF358	7490555	0.567000	0.26626	0.366000	0.25914	0.772000	0.43724	2.186000	0.42593	1.041000	0.40125	0.462000	0.41574	GCC		0.741	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1	0			19:7584555
AKAP13	11214	broad.mit.edu	37	15	86128981	86128981	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:86128981C>A	ENST00000394518.2	+	8	4183	c.4088C>A	c.(4087-4089)tCa>tAa	p.S1363*	AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1363*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1363					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAGCAAGTTCAATTTCTGAA	0.448																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2		NA																	0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(4087-4089)tCa>tAa		A kinase (PRKA) anchor protein 13							112.0	107.0	108.0					15																	86128981		2202	4299	6501	SO:0001587	stop_gained	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86128981C>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4088C>A	15.37:g.86128981C>A	ENSP00000378026:p.Ser1363*	False	False		Somatic	0				AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1363*	p.S1363*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	WXS	Illumina HiSeq	Phase_I	Q12802	AKP13_HUMAN			8	4183	+			1363					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Nonsense_Mutation	SNP	ENST00000394518.2	37	c.4088C>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	42	9.723090	0.99248	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	.	.	.	5.77	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999985	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9761	0.35937	0.0:0.8295:0.0:0.1705	.	.	.	.	X	1363;1363;1362;1362	.	ENSP00000354718:S1363X	S	+	2	0	AKAP13	83929985	0.001000	0.12720	0.003000	0.11579	0.539000	0.34962	0.903000	0.28475	0.796000	0.33947	0.591000	0.81541	TCA		0.448	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	NM_007200		15:86128981
USP53	54532	broad.mit.edu	37	4	120214304	120214304	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:120214304C>A	ENST00000274030.6	+	19	4339	c.3160C>A	c.(3160-3162)Cat>Aat	p.H1054N	USP53_ENST00000450251.1_Missense_Mutation_p.H1054N	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATTGAAATACCATCAGAGGCC	0.363																																						ENST00000450251.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(3160-3162)Cat>Aat		ubiquitin specific peptidase 53							51.0	49.0	50.0					4																	120214304		1844	4088	5932	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120214304C>A	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.3160C>A	4.37:g.120214304C>A	ENSP00000274030:p.His1054Asn	False	False		Somatic	0				USP53_ENST00000274030.6_Missense_Mutation_p.H1054N	p.H1054N			WXS	Illumina HiSeq	Phase_I	Q70EK8	UBP53_HUMAN			15	3704	+			1054						Missense_Mutation	SNP	ENST00000274030.6	37	c.3160C>A	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357258	0.61293	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.53857	0.6;0.6	5.89	4.16	0.48862	.	0.078821	0.53938	D	0.000049	T	0.49626	0.1568	M	0.66939	2.045	0.27596	N	0.949139	P	0.48764	0.915	B	0.40165	0.321	T	0.55730	-0.8095	10	0.87932	D	0	-14.5865	11.5943	0.50964	0.0:0.8585:0.0:0.1415	.	1054	Q70EK8	UBP53_HUMAN	N	1054	ENSP00000274030:H1054N;ENSP00000409906:H1054N	ENSP00000274030:H1054N	H	+	1	0	USP53	120433752	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.876000	0.48498	1.502000	0.48669	0.585000	0.79938	CAT		0.363	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	0	XM_052597		4:120214304
CEP152	22995	broad.mit.edu	37	15	49034207	49034207	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:49034207C>A	ENST00000380950.2	-	25	4113	c.3926G>T	c.(3925-3927)cGa>cTa	p.R1309L	CEP152_ENST00000399334.3_Missense_Mutation_p.R1253L|CEP152_ENST00000325747.5_Missense_Mutation_p.R1216L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1309					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCGCATCTTTCGGGCGGTTTC	0.433																																						ENST00000380950.2		NA																	0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(3925-3927)cGa>cTa		centrosomal protein 152kDa							178.0	162.0	167.0					15																	49034207		1899	4117	6016	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49034207C>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3926G>T	15.37:g.49034207C>A	ENSP00000370337:p.Arg1309Leu	True	False		Somatic	0				CEP152_ENST00000399334.3_Missense_Mutation_p.R1253L|CEP152_ENST00000325747.5_Missense_Mutation_p.R1216L	p.R1309L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	WXS	Illumina HiSeq	Phase_I	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	25	4113	-		all_lung(180;0.0428)	1253					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.3926G>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025413	0.75390	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.61274	0.12;0.34;0.18	6.03	5.1	0.69264	.	0.072442	0.53938	D	0.000060	T	0.73148	0.3550	M	0.66939	2.045	0.53005	D	0.999963	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.69479	0.917;0.964;0.964	T	0.75193	-0.3404	10	0.87932	D	0	-15.0506	15.5916	0.76534	0.0:0.9335:0.0:0.0665	.	1216;1309;1253	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	L	1309;1216;1253	ENSP00000370337:R1309L;ENSP00000321000:R1216L;ENSP00000382271:R1253L	ENSP00000321000:R1216L	R	-	2	0	CEP152	46821499	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	4.664000	0.61540	2.861000	0.98227	0.655000	0.94253	CGA		0.433	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	0	NM_014985		15:49034207
CDKAL1	54901	broad.mit.edu	37	6	20781448	20781448	+	Missense_Mutation	SNP	C	C	A	rs368733380		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:20781448C>A	ENST00000378610.1	+	6	600	c.590C>A	c.(589-591)cCg>cAg	p.P197Q	CDKAL1_ENST00000274695.4_Missense_Mutation_p.P197Q|CDKAL1_ENST00000378624.4_Missense_Mutation_p.P127Q|RP3-348I23.2_ENST00000421167.1_RNA			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	197					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TTGGATTTGCCGAAGATTAGG	0.388																																						ENST00000274695.4		NA																	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29						c.(589-591)cCg>cAg		CDK5 regulatory subunit associated protein 1-like 1							129.0	127.0	127.0					6																	20781448		2203	4300	6503	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:20781448C>A	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.590C>A	6.37:g.20781448C>A	ENSP00000367873:p.Pro197Gln	False	False		Somatic	0				CDKAL1_ENST00000378610.1_Missense_Mutation_p.P197Q|CDKAL1_ENST00000378624.4_Missense_Mutation_p.P127Q|RP3-348I23.2_ENST00000421167.1_RNA	p.P197Q	NM_017774.3	NP_060244.2	WXS	Illumina HiSeq	Phase_I	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		8	757	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		197					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.590C>A	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056802	0.93793	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.22743	1.94;1.94;1.94	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	M	0.92691	3.335	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.981;0.933	T	0.63611	-0.6598	10	0.87932	D	0	.	20.5837	0.99426	0.0:1.0:0.0:0.0	.	127;197	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	Q	197;127;197	ENSP00000274695:P197Q;ENSP00000367889:P127Q;ENSP00000367873:P197Q	ENSP00000274695:P197Q	P	+	2	0	CDKAL1	20889427	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	7.477000	0.81069	2.871000	0.98454	0.638000	0.83543	CCG		0.388	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	0	NM_017774		6:20781448
FANCM	57697	broad.mit.edu	37	14	45605717	45605717	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:45605717G>A	ENST00000267430.5	+	1	568	c.483G>A	c.(481-483)ccG>ccA	p.P161P	FKBP3_ENST00000396062.3_5'Flank|FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000556036.1_Silent_p.P161P|FANCM_ENST00000542564.2_Silent_p.P161P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	161	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGGGTATCCCGCAATCCCACA	0.502								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5		NA																	0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(481-483)ccG>ccA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							62.0	63.0	62.0					14																	45605717		2203	4300	6503	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45605717G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.483G>A	14.37:g.45605717G>A		True	False		Somatic	0				FANCM_ENST00000556036.1_Silent_p.P161P|FANCM_ENST00000542564.2_Silent_p.P161P	p.P161P	NM_020937.2	NP_065988.1	WXS	Illumina HiSeq	Phase_I	Q8IYD8	FANCM_HUMAN			1	568	+			161			Helicase ATP-binding.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.483G>A	CCDS32070.1																																																																																				0.502	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	0	XM_048128		14:45605717
PRKCA	5578	broad.mit.edu	37	17	64728884	64728884	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:64728884C>A	ENST00000413366.3	+	9	1023	c.997C>A	c.(997-999)Cga>Aga	p.R333R		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	333					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|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 inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CAACCTTGACCGAGTGAAACT	0.478																																						ENST00000413366.3		NA																	0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(997-999)Cga>Aga		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						141.0	140.0	140.0					17																	64728884		2203	4300	6503	SO:0001819	synonymous_variant	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64728884C>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.997C>A	17.37:g.64728884C>A		False	False		Somatic	0					p.R333R	NM_002737.2	NP_002728	WXS	Illumina HiSeq	Phase_I	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		9	1023	+			333					B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	c.997C>A	CCDS11664.1																																																																																				0.478	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1	0			17:64728884
ACE2	59272	broad.mit.edu	37	X	15610443	15610443	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:15610443C>A	ENST00000252519.3	-	3	450	c.348G>T	c.(346-348)ttG>ttT	p.L116F	ACE2_ENST00000427411.1_Missense_Mutation_p.L116F			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	116					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)	GAATTGTGTTCAACTGCAAAT	0.313																																						ENST00000427411.1		NA																	0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(346-348)ttG>ttT		angiotensin I converting enzyme 2	Moexipril(DB00691)						141.0	141.0	141.0					X																	15610443		2203	4297	6500	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:15610443C>A	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.348G>T	X.37:g.15610443C>A	ENSP00000252519:p.Leu116Phe	False	False		Somatic	0				ACE2_ENST00000252519.3_Missense_Mutation_p.L116F	p.L116F	NM_021804.2	NP_068576.1	WXS	Illumina HiSeq	Phase_I	Q9BYF1	ACE2_HUMAN			4	564	-	Hepatocellular(33;0.183)		116					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.348G>T	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	7.521	0.656759	0.14580	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.31510	1.49;1.49	5.6	0.825	0.18824	.	0.075855	0.53938	D	0.000048	T	0.40272	0.1110	M	0.84219	2.685	0.30392	N	0.780935	P	0.47762	0.9	P	0.49665	0.618	T	0.43278	-0.9401	10	0.59425	D	0.04	-10.4956	5.6617	0.17672	0.0:0.5064:0.1256:0.368	.	116	Q9BYF1	ACE2_HUMAN	F	116	ENSP00000252519:L116F;ENSP00000389326:L116F	ENSP00000252519:L116F	L	-	3	2	ACE2	15520364	1.000000	0.71417	0.340000	0.25575	0.120000	0.20174	1.766000	0.38491	0.021000	0.15133	-0.303000	0.09236	TTG		0.313	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1	0			X:15610443
PLA1A	51365	broad.mit.edu	37	3	119325737	119325737	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:119325737G>T	ENST00000273371.4	+	2	262	c.190G>T	c.(190-192)Ggg>Tgg	p.G64W	PLA1A_ENST00000495992.1_Missense_Mutation_p.G64W|PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000494440.1_Missense_Mutation_p.G48W	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	64					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTAGCTGTGGGCAGCTAGT	0.488																																						ENST00000273371.4		NA																	0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(190-192)Ggg>Tgg		phospholipase A1 member A							154.0	159.0	157.0					3																	119325737		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119325737G>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.190G>T	3.37:g.119325737G>T	ENSP00000273371:p.Gly64Trp	True	False		Somatic	0				PLA1A_ENST00000495992.1_Missense_Mutation_p.G64W|PLA1A_ENST00000494440.1_Missense_Mutation_p.G48W|PLA1A_ENST00000488919.1_Intron	p.G64W	NM_015900.3	NP_056984.1	WXS	Illumina HiSeq	Phase_I	Q53H76	PLA1A_HUMAN			2	262	+			64					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.190G>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151990	0.57151	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.91631	-2.68;-2.88;-2.68	5.04	5.04	0.67666	Lipase, N-terminal (1);	0.150264	0.64402	D	0.000014	D	0.96506	0.8860	M	0.89534	3.04	0.48632	D	0.999682	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95733	0.8776	10	0.38643	T	0.18	-19.1743	15.7681	0.78143	0.0:0.0:1.0:0.0	.	64;64	Q53H76-3;Q53H76	.;PLA1A_HUMAN	W	64;64;48	ENSP00000273371:G64W;ENSP00000417326:G64W;ENSP00000418793:G48W	ENSP00000273371:G64W	G	+	1	0	PLA1A	120808427	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	5.717000	0.68446	2.791000	0.96007	0.655000	0.94253	GGG		0.488	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2	0			3:119325737
ABCC4	10257	broad.mit.edu	37	13	95847155	95847155	+	Missense_Mutation	SNP	G	G	T	rs200696756		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:95847155G>T	ENST00000376887.4	-	9	1312	c.1198C>A	c.(1198-1200)Cgt>Agt	p.R400S	ABCC4_ENST00000431522.1_Missense_Mutation_p.R400S|ABCC4_ENST00000412704.1_Missense_Mutation_p.R400S|ABCC4_ENST00000536256.1_Missense_Mutation_p.R325S|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	400					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)	GGCAGCTGACGGTTGCGCTGT	0.378																																						ENST00000376887.4		NA																	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.(1198-1200)Cgt>Agt		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						110.0	97.0	101.0					13																	95847155		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.chr13:95847155G>T	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.1198C>A	13.37:g.95847155G>T	ENSP00000366084:p.Arg400Ser	False	False		Somatic	0				ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.R325S|ABCC4_ENST00000431522.1_Missense_Mutation_p.R400S|ABCC4_ENST00000412704.1_Missense_Mutation_p.R400S	p.R400S	NM_005845.3	NP_005836.2	WXS	Illumina HiSeq	Phase_I	O15439	MRP4_HUMAN			9	1312	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		400					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.1198C>A	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	5.565	0.289104	0.10513	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.90900	-2.68;-2.66;-2.75;-2.69	4.98	-5.98	0.02220	ABC transporter, transmembrane domain, type 1 (1);	1.564160	0.03478	N	0.214653	T	0.72953	0.3525	N	0.04705	-0.18	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.67662	-0.5613	10	0.09590	T	0.72	.	2.5393	0.04722	0.1621:0.0945:0.3336:0.4098	.	325;400;400;400;400	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	S	400;400;325;400	ENSP00000388657:R400S;ENSP00000366084:R400S;ENSP00000442024:R325S;ENSP00000398562:R400S	ENSP00000366084:R400S	R	-	1	0	ABCC4	94645156	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.368000	0.20399	-0.928000	0.03761	0.462000	0.41574	CGT		0.378	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	0	NM_005845		13:95847155
SUV420H1	51111	broad.mit.edu	37	11	67941364	67941364	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:67941364C>A	ENST00000304363.4	-	6	913	c.560G>T	c.(559-561)cGa>cTa	p.R187L	SUV420H1_ENST00000402789.1_Missense_Mutation_p.R187L|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R187L|SUV420H1_ENST00000405515.1_Missense_Mutation_p.R187L|SUV420H1_ENST00000402185.2_Missense_Mutation_p.R164L	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	187					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGCAAACATTCGCAAATAAAT	0.318																																						ENST00000304363.4		NA																	0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(559-561)cGa>cTa		suppressor of variegation 4-20 homolog 1 (Drosophila)							79.0	74.0	76.0					11																	67941364		2199	4292	6491	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67941364C>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.560G>T	11.37:g.67941364C>A	ENSP00000305899:p.Arg187Leu	False	False		Somatic	0				SUV420H1_ENST00000401547.2_Missense_Mutation_p.R187L|SUV420H1_ENST00000402789.1_Missense_Mutation_p.R187L|SUV420H1_ENST00000402185.2_Missense_Mutation_p.R164L|SUV420H1_ENST00000405515.1_Missense_Mutation_p.R187L	p.R187L	NM_017635.3	NP_060105	WXS	Illumina HiSeq	Phase_I	Q4FZB7	SV421_HUMAN			6	913	-			187					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.560G>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030461	0.93575	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271;ENST00000453170	D;D;D;D;D;D;T	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;0.96	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.89901	0.6849	N	0.25789	0.76	0.80722	D	1	P;P;D;D	0.76494	0.938;0.67;0.996;0.999	B;P;D;D	0.85130	0.371;0.495;0.992;0.997	D	0.90878	0.4751	10	0.62326	D	0.03	-10.1498	19.0028	0.92841	0.0:1.0:0.0:0.0	.	164;187;187;187	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	L	187;187;187;187;164;15;116	ENSP00000305899:R187L;ENSP00000385965:R187L;ENSP00000385640:R187L;ENSP00000385005:R187L;ENSP00000384724:R164L;ENSP00000433589:R15L;ENSP00000406377:R116L	ENSP00000305899:R187L	R	-	2	0	SUV420H1	67697940	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.752000	0.85141	2.669000	0.90835	0.591000	0.81541	CGA		0.318	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	0	NM_017635		11:67941364
LEO1	123169	broad.mit.edu	37	15	52254651	52254651	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:52254651C>A	ENST00000299601.5	-	3	914	c.854G>T	c.(853-855)cGa>cTa	p.R285L	LEO1_ENST00000315141.5_Missense_Mutation_p.R285L	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	285	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		GCGTTTCATTCGTAAAACTTC	0.353																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	ENST00000299601.5		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(853-855)cGa>cTa		Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							80.0	74.0	76.0					15																	52254651		2195	4293	6488	SO:0001583	missense	123169				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr15:52254651C>A	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.854G>T	15.37:g.52254651C>A	ENSP00000299601:p.Arg285Leu	False	False		Somatic	0				LEO1_ENST00000315141.5_Missense_Mutation_p.R285L	p.R285L	NM_138792.2	NP_620147.1	WXS	Illumina HiSeq	Phase_I	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)	3	914	-			285			Asp-rich.		Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	c.854G>T	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.229986	0.58777	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.54	5.54	0.83059	.	0.062516	0.64402	D	0.000005	T	0.50548	0.1622	L	0.56769	1.78	0.80722	D	1	P;P	0.40515	0.491;0.719	B;B	0.34824	0.19;0.149	T	0.50767	-0.8789	9	0.29301	T	0.29	.	13.4184	0.60982	0.0:0.9236:0.0:0.0764	.	285;285	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	L	285;263;285	.	ENSP00000299601:R285L	R	-	2	0	LEO1	50041943	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.653000	0.67967	2.597000	0.87782	0.455000	0.32223	CGA		0.353	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	0	NM_138792		15:52254651
STARD3NL	83930	broad.mit.edu	37	7	38247300	38247300	+	Missense_Mutation	SNP	C	C	A	rs553968130	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:38247300C>A	ENST00000009041.7	+	2	452	c.195C>A	c.(193-195)ttC>ttA	p.F65L	STARD3NL_ENST00000434197.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000544203.1_Missense_Mutation_p.F58L|STARD3NL_ENST00000396013.1_Missense_Mutation_p.F65L	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	65	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						ACCTCTTATTCGTAACATTAC	0.373																																						ENST00000009041.7		NA																	0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(193-195)ttC>ttA		STARD3 N-terminal like							145.0	130.0	135.0					7																	38247300		2203	4300	6503	SO:0001583	missense	0					integral to membrane|late endosome membrane		g.chr7:38247300C>A	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.195C>A	7.37:g.38247300C>A	ENSP00000009041:p.Phe65Leu	False	False		Somatic	0				STARD3NL_ENST00000544203.1_Missense_Mutation_p.F58L|STARD3NL_ENST00000396013.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000434197.1_Missense_Mutation_p.F65L	p.F65L	NM_032016.3	NP_114405.1	WXS	Illumina HiSeq	Phase_I	O95772	MENTO_HUMAN			2	452	+			65			MENTAL.		A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	c.195C>A	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253884	0.80135	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	6.17	5.02	0.67125	MENTAL domain (2);	0.042989	0.85682	D	0.000000	T	0.61148	0.2324	L	0.53617	1.68	0.50813	D	0.999893	D;D	0.89917	1.0;0.98	D;P	0.97110	1.0;0.904	T	0.57888	-0.7733	10	0.45353	T	0.12	-8.6394	9.8732	0.41187	0.0:0.1389:0.0:0.8611	.	65;65	C9JKL2;O95772	.;MENTO_HUMAN	L	65;58;65;65;65;65;65	ENSP00000009041:F65L;ENSP00000439436:F58L;ENSP00000394000:F65L;ENSP00000379334:F65L;ENSP00000411933:F65L;ENSP00000395455:F65L;ENSP00000402028:F65L	ENSP00000009041:F65L	F	+	3	2	STARD3NL	38213825	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.598000	0.36740	0.576000	0.29452	-0.254000	0.11334	TTC		0.373	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2	0			7:38247300
CYTL1	54360	broad.mit.edu	37	4	5016889	5016889	+	Missense_Mutation	SNP	G	G	T	rs137887145	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:5016889G>T	ENST00000307746.4	-	4	426	c.400C>A	c.(400-402)Cgt>Agt	p.R134S		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	134					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TAGCGCTGACGATCTGGCAGG	0.488																																					Colon(15;457 478 29696 43408 47165)	ENST00000307746.4		NA																	0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(400-402)Cgt>Agt		cytokine-like 1							128.0	115.0	119.0					4																	5016889		2203	4300	6503	SO:0001583	missense	54360				signal transduction	extracellular space|soluble fraction	receptor binding	g.chr4:5016889G>T	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.400C>A	4.37:g.5016889G>T	ENSP00000303550:p.Arg134Ser	False	False		Somatic	0					p.R134S	NM_018659.2	NP_061129.1	WXS	Illumina HiSeq	Phase_I	Q9NRR1	CYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	4	426	-			134						Missense_Mutation	SNP	ENST00000307746.4	37	c.400C>A	CCDS3379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.983|6.983	0.551462|0.551462	0.13374|0.13374	.|.	.|.	ENSG00000170891|ENSG00000170891	ENST00000307746|ENST00000506508	T|.	0.28454|.	1.61|.	4.4|4.4	1.35|1.35	0.21983|0.21983	.|.	2.772270|.	0.00864|.	N|.	0.001945|.	T|.	0.11793|.	0.0287|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.25609|.	0.13|.	B|.	0.19946|.	0.027|.	T|.	0.25537|.	-1.0129|.	10|.	0.21540|.	T|.	0.41|.	0.151|0.151	1.9715|1.9715	0.03407|0.03407	0.1191:0.202:0.4717:0.2072|0.1191:0.202:0.4717:0.2072	.|.	134|.	Q9NRR1|.	CYTL1_HUMAN|.	S|X	134|73	ENSP00000303550:R134S|.	ENSP00000303550:R134S|.	R|S	-|-	1|2	0|0	CYTL1|CYTL1	5067790|5067790	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.027000|0.027000	0.11550|0.11550	0.318000|0.318000	0.19504|0.19504	0.270000|0.270000	0.21984|0.21984	0.511000|0.511000	0.50034|0.50034	CGT|TCG		0.488	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	0	NM_018659		4:5016889
GAB1	2549	broad.mit.edu	37	4	144378878	144378878	+	Intron	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:144378878G>T	ENST00000262994.4	+	7	1887				GAB1_ENST00000262995.4_Missense_Mutation_p.R544L|GAB1_ENST00000505913.1_Intron	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1						activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GGTTTAGAGCGAACTGATTCA	0.338																																						ENST00000262995.4		NA																	0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1630-1632)cGa>cTa		GRB2-associated binding protein 1							55.0	51.0	52.0					4																	144378878		2203	4299	6502	SO:0001627	intron_variant	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144378878G>T	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1586-1660G>T	4.37:g.144378878G>T		False	False		Somatic	0				GAB1_ENST00000262994.4_Intron|GAB1_ENST00000505913.1_Intron	p.R544L	NM_207123.2	NP_997006.1	WXS	Illumina HiSeq	Phase_I	Q13480	GAB1_HUMAN			7	2058	+	all_hematologic(180;0.158)		526					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.1631G>T	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961256	0.74016	.	.	ENSG00000109458	ENST00000262995	T	0.13657	2.57	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000036	T	0.22475	0.0542	N	0.14661	0.345	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	T	0.14254	-1.0479	10	0.31617	T	0.26	-15.247	18.7266	0.91716	0.0:0.0:1.0:0.0	.	544	Q13480-2	.	L	544	ENSP00000262995:R544L	ENSP00000262995:R544L	R	+	2	0	GAB1	144598328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.199000	0.95003	2.426000	0.82243	0.655000	0.94253	CGA		0.338	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	0	NM_002039		4:144378878
RP11-645C24.5	0	broad.mit.edu	37	16	21809097	21809097	+	lincRNA	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:21809097C>A	ENST00000567370.1	-	0	0				RRN3P1_ENST00000546471.1_RNA																							AAAAGTTAACCACTGAGGGCA	0.338																																						ENST00000546471.1		NA																	0					NA																																														0							g.chr16:21809097C>A																													16.37:g.21809097C>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	2098	-			NA						RNA	SNP	ENST00000567370.1	37																																																																																						0.338	RP11-645C24.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430026.1	0			16:21809097
SH2D5	400745	broad.mit.edu	37	1	21050638	21050638	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:21050638C>T	ENST00000444387.2	-	7	1134	c.737G>A	c.(736-738)cGc>cAc	p.R246H	SH2D5_ENST00000375031.1_Missense_Mutation_p.R162H|SH2D5_ENST00000460804.1_5'UTR	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	246								p.R162H(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCCCCCGAGCGGATCACCTT	0.667																																						ENST00000375031.1		NA																	1	Substitution - Missense(1)	p.R162H(1)	prostate(1)	lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(484-486)cGc>cAc		SH2 domain containing 5							46.0	55.0	52.0					1																	21050638		2093	4200	6293	SO:0001583	missense	400745							g.chr1:21050638C>T	AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.737G>A	1.37:g.21050638C>T	ENSP00000406026:p.Arg246His	False	False		Somatic	0				SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Missense_Mutation_p.R246H	p.R162H	NM_001103160.1	NP_001096630.1	WXS	Illumina HiSeq	Phase_I	Q6ZV89	SH2D5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	6	1109	-		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	162					B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	ENST00000444387.2	37	c.485G>A	CCDS44080.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627683	0.87560	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	4.93	4.01	0.46588	SH2 motif (3);	0.138797	0.49305	N	0.000156	T	0.56877	0.2015	L	0.56769	1.78	0.42777	D	0.993855	B	0.25667	0.131	B	0.18871	0.023	T	0.59984	-0.7351	9	0.66056	D	0.02	.	12.202	0.54331	0.0:0.9156:0.0:0.0844	.	246	Q6ZV89	SH2D5_HUMAN	H	162;246	.	ENSP00000364171:R162H	R	-	2	0	SH2D5	20923225	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.417000	0.59822	1.303000	0.44873	0.563000	0.77884	CGC		0.667	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	0	XM_375698		1:21050638
SLC7A2	6542	broad.mit.edu	37	8	17396408	17396408	+	Intron	SNP	G	G	T	rs372780420		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:17396408G>T	ENST00000494857.1	+	3	196				SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Silent_p.P25P|SLC7A2_ENST00000470360.1_Silent_p.P25P|SLC7A2_ENST00000398090.3_Silent_p.P25P	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGCCCCACCGGTTTGCGACA	0.418																																						ENST00000470360.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(73-75)ccG>ccT		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						100.0	91.0	94.0					8																	17396408		1837	4087	5924	SO:0001627	intron_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17396408G>T	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.-22-4419G>T	8.37:g.17396408G>T		False	False		Somatic	0				SLC7A2_ENST00000398090.3_Silent_p.P25P|SLC7A2_ENST00000004531.10_Silent_p.P25P|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000522656.1_Intron	p.P25P			WXS	Illumina HiSeq	Phase_I	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	3	192	+			0					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.75G>T	CCDS34852.1																																																																																				0.418	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	0	NM_003046		8:17396408
NHS	4810	broad.mit.edu	37	X	17745520	17745520	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:17745520G>T	ENST00000380060.3	+	6	3569	c.3231G>T	c.(3229-3231)ttG>ttT	p.L1077F	NHS_ENST00000398097.3_Missense_Mutation_p.L921F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1098					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ATAATGTCTTGAACAAACCAT	0.413																																						ENST00000380060.3		NA																	0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(3229-3231)ttG>ttT		Nance-Horan syndrome (congenital cataracts and dental anomalies)							192.0	177.0	182.0					X																	17745520		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17745520G>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3231G>T	X.37:g.17745520G>T	ENSP00000369400:p.Leu1077Phe	False	False		Somatic	0				NHS_ENST00000398097.3_Missense_Mutation_p.L921F	p.L1077F	NM_198270.2	NP_938011.1	WXS	Illumina HiSeq	Phase_I	Q6T4R5	NHS_HUMAN			6	3569	+	Hepatocellular(33;0.183)		1077					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.3231G>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755600	0.15846	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.49432	0.78;0.79	5.88	3.1	0.35709	.	0.496191	0.22945	N	0.053721	T	0.58666	0.2138	M	0.62723	1.935	0.39613	D	0.969907	B;B;B;D	0.89917	0.082;0.082;0.082;1.0	B;B;B;D	0.91635	0.058;0.058;0.058;0.999	T	0.58289	-0.7662	10	0.52906	T	0.07	-8.328	4.1375	0.10178	0.1384:0.1238:0.6063:0.1315	.	1098;919;921;1077	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	F	1077;921;919	ENSP00000369400:L1077F;ENSP00000381170:L921F	ENSP00000369397:L919F	L	+	3	2	NHS	17655441	1.000000	0.71417	0.998000	0.56505	0.331000	0.28603	1.744000	0.38268	0.643000	0.30638	-1.070000	0.02257	TTG		0.413	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	0	NM_198270		X:17745520
ZCCHC10	54819	broad.mit.edu	37	5	132362202	132362202	+	Missense_Mutation	SNP	C	C	T	rs143508297		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:132362202C>T	ENST00000509437.1	-	1	35	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	ZCCHC10_ENST00000324170.3_Missense_Mutation_p.A10T|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000504170.1_Missense_Mutation_p.A10T			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	10							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCTCCGGGCTATTAGCCGA	0.642																																						ENST00000324170.3		NA																	0				skin(1)	1						c.(28-30)Gcc>Acc		zinc finger, CCHC domain containing 10							29.0	29.0	29.0					5																	132362202		2203	4300	6503	SO:0001583	missense	54819						nucleic acid binding|zinc ion binding	g.chr5:132362202C>T	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"""Zinc fingers, CCHC domain containing"""	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.28G>A	5.37:g.132362202C>T	ENSP00000423276:p.Ala10Thr	True	False		Somatic	0				ZCCHC10_ENST00000513541.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509437.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000504170.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.A10T	p.A10T	NM_017665.1	NP_060135.1	WXS	Illumina HiSeq	Phase_I	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	94	-			10					Q9NXR4	Missense_Mutation	SNP	ENST00000509437.1	37	c.28G>A		.	.	.	.	.	.	.	.	.	.	C	15.73	2.919083	0.52546	.	.	ENSG00000155329	ENST00000324170;ENST00000355372;ENST00000509437;ENST00000513848;ENST00000513541;ENST00000509008;ENST00000504170	.	.	.	4.84	4.84	0.62591	.	0.059049	0.64402	D	0.000003	T	0.70159	0.3192	.	.	.	0.31611	N	0.651506	D;D;D	0.67145	0.988;0.993;0.996	D;D;D	0.73708	0.981;0.956;0.981	T	0.73600	-0.3931	8	0.51188	T	0.08	.	15.1619	0.72791	0.0:1.0:0.0:0.0	.	10;10;10	G3XAM1;Q8TBK6;Q8TBK6-2	.;ZCH10_HUMAN;.	T	10	.	ENSP00000324274:A10T	A	-	1	0	ZCCHC10	132390101	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	4.062000	0.57492	2.683000	0.91414	0.591000	0.81541	GCC		0.642	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	0	NM_017665		5:132362202
RBM6	10180	broad.mit.edu	37	3	50091792	50091792	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:50091792C>A	ENST00000266022.4	+	8	1916	c.1657C>A	c.(1657-1659)Cga>Aga	p.R553R	RBM6_ENST00000443081.1_Silent_p.R421R|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000422955.1_Silent_p.R31R|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000442092.1_Silent_p.R31R	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	553					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R553R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGGTGGGCACCGATCTTCCTG	0.378																																						ENST00000443081.1		NA																	1	Substitution - coding silent(1)	p.R553R(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(1261-1263)Cga>Aga		RNA binding motif protein 6							195.0	202.0	200.0					3																	50091792		2203	4300	6503	SO:0001819	synonymous_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50091792C>A	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1657C>A	3.37:g.50091792C>A		False	False		Somatic	0				RBM6_ENST00000266022.4_Silent_p.R553R|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000442092.1_Silent_p.R31R|RBM6_ENST00000422955.1_Silent_p.R31R	p.R421R			WXS	Illumina HiSeq	Phase_I	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	8	2180	+			553					O60549|O75524|Q86SS3	Silent	SNP	ENST00000266022.4	37	c.1261C>A	CCDS2809.1																																																																																				0.378	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	0	NM_005777		3:50091792
COL4A2	1284	broad.mit.edu	37	13	110960263	110960263	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:110960263C>A	ENST00000360467.5	+	2	319	c.13C>A	c.(13-15)Cag>Aag	p.Q5K	COL4A1_ENST00000543140.1_5'Flank|COL4A1_ENST00000375820.4_5'Flank	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	5					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGGAGAGACCAGCGCGCGGT	0.662																																						ENST00000360467.5		NA																	0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(13-15)Cag>Aag		collagen, type IV, alpha 2							25.0	32.0	29.0					13																	110960263		1977	4142	6119	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:110960263C>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.13C>A	13.37:g.110960263C>A	ENSP00000353654:p.Gln5Lys	False	False		Somatic	0					p.Q5K	NM_001846.2	NP_001837.2	WXS	Illumina HiSeq	Phase_I	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		2	319	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	5					Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.13C>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	3.138	-0.176863	0.06380	.	.	ENSG00000134871	ENST00000400163;ENST00000360467;ENST00000257309	D;D	0.90676	-2.71;-2.69	3.37	2.41	0.29592	.	.	.	.	.	T	0.74943	0.3783	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.62388	-0.6865	9	0.02654	T	1	.	7.2031	0.25891	0.2652:0.7348:0.0:0.0	.	5	P08572	CO4A2_HUMAN	K	5	ENSP00000383027:Q5K;ENSP00000353654:Q5K	ENSP00000257309:Q5K	Q	+	1	0	COL4A2	109758264	0.001000	0.12720	0.007000	0.13788	0.117000	0.20001	0.298000	0.19120	1.882000	0.54519	0.561000	0.74099	CAG		0.662	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	0	NM_001846		13:110960263
GJA8	2703	broad.mit.edu	37	1	147381108	147381108	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:147381108C>T	ENST00000369235.1	+	1	1026	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	GJA8_ENST00000240986.4_Silent_p.A342A			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	342					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGGAGGGAGCCGAACCCGAGG	0.652																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(1024-1026)gcC>gcT		gap junction protein, alpha 8, 50kDa							33.0	32.0	32.0					1																	147381108		2202	4299	6501	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147381108C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1026C>T	1.37:g.147381108C>T		False	False		Somatic	0				GJA8_ENST00000369235.1_Silent_p.A342A	p.A342A	NM_005267.4	NP_005258.2	WXS	Illumina HiSeq	Phase_I	P48165	CXA8_HUMAN			2	1079	+	all_hematologic(923;0.0276)		342					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.1026C>T	CCDS30834.1																																																																																				0.652	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	0	NM_005267		1:147381108
DACH1	1602	broad.mit.edu	37	13	72204773	72204773	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:72204773G>T	ENST00000359684.2	-	3	1046	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	DACH1_ENST00000313174.7_Silent_p.I349I|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000305425.4_Silent_p.I349I			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	349	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTTCTAATTTGATTTTTTTCA	0.408																																						ENST00000305425.4		NA																	0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1045-1047)atC>atA		dachshund homolog 1 (Drosophila)							196.0	176.0	182.0					13																	72204773		1840	4092	5932	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72204773G>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1047C>A	13.37:g.72204773G>T		True	False		Somatic	0				DACH1_ENST00000359684.2_Silent_p.I349I|DACH1_ENST00000313174.7_Silent_p.I349I|DACH1_ENST00000354591.4_Intron	p.I349I	NM_080759.4	NP_542937.2	WXS	Illumina HiSeq	Phase_I	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	3	1469	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	347			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.1047C>A																																																																																					0.408	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	0	NM_004392		13:72204773
NRXN3	9369	broad.mit.edu	37	14	79434626	79434626	+	Missense_Mutation	SNP	C	C	T	rs140301017		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:79434626C>T	ENST00000554719.1	+	11	2451	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	260					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTGAATGGACGCCTGCCAGA	0.522																																						ENST00000554719.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(1960-1962)Cgc>Tgc		neurexin 3		C	CYS/ARG	0,4406		0,0,2203	136.0	116.0	122.0		1960	6.0	1.0	14	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRXN3	NM_004796.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	654/1062	79434626	1,13005	2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79434626C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1960C>T	14.37:g.79434626C>T	ENSP00000451648:p.Arg654Cys	False	False		Somatic	0				NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	p.R654C	NM_004796.4	NP_004787.2	WXS	Illumina HiSeq	Phase_I	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	11	2451	+		Renal(4;0.00876)	260					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1960C>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587372	0.96590	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.76968	-1.06;-1.06	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	.	.	.	0.80722	D	1	D;P	0.89917	1.0;0.813	D;B	0.91635	0.999;0.076	D	0.87571	0.2478	8	.	.	.	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1027;654	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	C	1027;1016;654;654	ENSP00000451648:R654C;ENSP00000338349:R654C	.	R	+	1	0	NRXN3	78504379	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	CGC		0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	0	NM_001105250		14:79434626
SHROOM2	357	broad.mit.edu	37	X	9864330	9864330	+	Silent	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:9864330T>C	ENST00000380913.3	+	4	2472	c.2382T>C	c.(2380-2382)ttT>ttC	p.F794F		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	794					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGGGCACGTTTGCTGACAGGT	0.557																																						ENST00000380913.3		NA																	0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(2380-2382)ttT>ttC		shroom family member 2							46.0	46.0	46.0					X																	9864330		2203	4300	6503	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9864330T>C	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2382T>C	X.37:g.9864330T>C		True	False		Somatic	0					p.F794F	NM_001649.2	NP_001640.1	WXS	Illumina HiSeq	Phase_I	Q13796	SHRM2_HUMAN			4	2472	+		Hepatocellular(5;0.000888)	794					B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.2382T>C	CCDS14135.1																																																																																				0.557	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	0	NM_001649		X:9864330
TCEB1	6921	broad.mit.edu	37	8	74858992	74858992	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:74858992G>T	ENST00000522337.1	-	5	531	c.212C>A	c.(211-213)tCg>tAg	p.S71*	TCEB1_ENST00000523815.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520210.1_Nonsense_Mutation_p.S55*|TCEB1_ENST00000519487.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520242.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000518127.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000284811.8_Nonsense_Mutation_p.S71*|TCEB1_ENST00000602840.1_Intron			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	71					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			GCATACTTTCGATAGCACATG	0.398																																						ENST00000518127.1		NA																	0				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7						c.(211-213)tCg>tAg		transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)							99.0	82.0	88.0					8																	74858992		2203	4300	6503	SO:0001587	stop_gained	6921				interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr8:74858992G>T	L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"""transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"""			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.212C>A	8.37:g.74858992G>T	ENSP00000429906:p.Ser71*	False	False		Somatic	0				TCEB1_ENST00000523815.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000284811.8_Nonsense_Mutation_p.S71*|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000522337.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000519487.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520210.1_Nonsense_Mutation_p.S55*|TCEB1_ENST00000520242.1_Nonsense_Mutation_p.S71*	p.S71*	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	WXS	Illumina HiSeq	Phase_I	Q15369	ELOC_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)		4	304	-	Breast(64;0.0311)		71					E5RGD9|Q567Q6	Nonsense_Mutation	SNP	ENST00000522337.1	37	c.212C>A	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	G	37	6.088852	0.97271	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	.	.	.	5.66	5.66	0.87406	.	0.000000	0.44902	D	0.000414	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-2.4048	19.7525	0.96273	0.0:0.0:1.0:0.0	.	.	.	.	X	71;55;71;71;71;71;71;71	.	ENSP00000284811:S71X	S	-	2	0	TCEB1	75021546	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.103000	0.94232	2.669000	0.90835	0.591000	0.81541	TCG		0.398	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	0	NM_005648		8:74858992
FLG	2312	broad.mit.edu	37	1	152277569	152277569	+	Missense_Mutation	SNP	C	C	A	rs144217264		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:152277569C>A	ENST00000368799.1	-	3	9828	c.9793G>T	c.(9793-9795)Ggg>Tgg	p.G3265W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3265	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)			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)			GCAGAGTGCCCGTGACCGGCT	0.582									Ichthyosis																													ENST00000368799.1		NA																	0				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.(9793-9795)Ggg>Tgg		filaggrin							263.0	266.0	265.0					1																	152277569		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.chr1:152277569C>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.9793G>T	1.37:g.152277569C>A	ENSP00000357789:p.Gly3265Trp	True	False		Somatic	0				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G3265W	NM_002016.1	NP_002007.1	WXS	Illumina HiSeq	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9828	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3265			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9793G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090737	0.20471	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01145	5.27	2.33	2.33	0.28932	.	.	.	.	.	T	0.02193	0.0068	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44528	-0.9322	9	0.72032	D	0.01	-5.3773	8.176	0.31283	0.0:1.0:0.0:0.0	.	3265	P20930	FILA_HUMAN	W	3265;203	ENSP00000357789:G3265W	ENSP00000357786:G203W	G	-	1	0	FLG	150544193	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.064000	0.11636	1.305000	0.44909	0.449000	0.29647	GGG		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	NM_002016		1:152277569
USP14	9097	broad.mit.edu	37	18	204644	204644	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:204644C>A	ENST00000261601.7	+	13	1207	c.1116C>A	c.(1114-1116)tcC>tcA	p.S372S	USP14_ENST00000582707.1_Silent_p.S337S|USP14_ENST00000400266.3_Silent_p.S361S|USP14_ENST00000383589.2_Silent_p.S326S	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	372	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTTTTCGATCCAAATTCAAGG	0.328																																						ENST00000261601.7		NA																	0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(1114-1116)tcC>tcA		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							85.0	87.0	86.0					18																	204644		2203	4300	6503	SO:0001819	synonymous_variant	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:204644C>A	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.1116C>A	18.37:g.204644C>A		True	False		Somatic	0				USP14_ENST00000383589.2_Silent_p.S326S|USP14_ENST00000582707.1_Silent_p.S337S|USP14_ENST00000400266.3_Silent_p.S361S	p.S372S	NM_005151.3	NP_005142.1	WXS	Illumina HiSeq	Phase_I	P54578	UBP14_HUMAN			13	1207	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	NA					J3QRZ5|Q53XY5	Silent	SNP	ENST00000261601.7	37	c.1116C>A	CCDS32780.1																																																																																				0.328	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	0	NM_005151		18:204644
ARID4A	5926	broad.mit.edu	37	14	58814545	58814545	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:58814545C>A	ENST00000355431.3	+	15	1726	c.1353C>A	c.(1351-1353)atC>atA	p.I451I	ARID4A_ENST00000348476.3_Silent_p.I451I|ARID4A_ENST00000431317.2_Silent_p.I451I|ARID4A_ENST00000395168.3_Silent_p.I451I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	451					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGAAAATATCGATTCAAACA	0.313																																						ENST00000355431.3		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1351-1353)atC>atA		AT rich interactive domain 4A (RBP1-like)							75.0	79.0	78.0					14																	58814545		2203	4300	6503	SO:0001819	synonymous_variant	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58814545C>A	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1353C>A	14.37:g.58814545C>A		False	False		Somatic	0				ARID4A_ENST00000348476.3_Silent_p.I451I|ARID4A_ENST00000395168.3_Silent_p.I451I|ARID4A_ENST00000431317.2_Silent_p.I451I	p.I451I	NM_002892.3	NP_002883.3	WXS	Illumina HiSeq	Phase_I	P29374	ARI4A_HUMAN			15	1726	+			451					Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	37	c.1353C>A	CCDS9732.1																																																																																				0.313	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	0	NM_023001		14:58814545
NCOA6	23054	broad.mit.edu	37	20	33329665	33329665	+	Silent	SNP	C	C	A	rs201911903		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:33329665C>A	ENST00000374796.2	-	12	6965	c.4395G>T	c.(4393-4395)tcG>tcT	p.S1465S	NCOA6_ENST00000359003.2_Silent_p.S1465S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1465					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)			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						TGTTAGGATCCGAAGGCTGCC	0.443																																						ENST00000374796.2		NA																	0				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.(4393-4395)tcG>tcT		nuclear receptor coactivator 6							106.0	98.0	101.0					20																	33329665		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.chr20:33329665C>A	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.4395G>T	20.37:g.33329665C>A		False	False		Somatic	0				NCOA6_ENST00000359003.2_Silent_p.S1465S	p.S1465S			WXS	Illumina HiSeq	Phase_I	Q14686	NCOA6_HUMAN			12	6965	-			1465					A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.4395G>T	CCDS13241.1																																																																																				0.443	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	0	NM_014071		20:33329665
S100A7	6278	broad.mit.edu	37	1	153431438	153431438	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:153431438G>T	ENST00000368723.3	-	2	162	c.52C>A	c.(52-54)Cac>Aac	p.H18N	S100A7_ENST00000368722.1_Missense_Mutation_p.H18N	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	18	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGTATTTGTGAAACATGTCG	0.438																																						ENST00000368723.3		NA																	0				breast(1)|large_intestine(2)|lung(5)|skin(2)	10						c.(52-54)Cac>Aac		S100 calcium binding protein A7							275.0	234.0	248.0					1																	153431438		2203	4300	6503	SO:0001583	missense	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153431438G>T	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10497	protein-coding gene	gene with protein product		600353	"""S100 calcium-binding protein A7 (psoriasin 1)"", ""S100 calcium binding protein A7 (psoriasin 1)"""	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.52C>A	1.37:g.153431438G>T	ENSP00000357712:p.His18Asn	True	False		Somatic	0				S100A7_ENST00000368722.1_Missense_Mutation_p.H18N	p.H18N	NM_002963.3	NP_002954.2	WXS	Illumina HiSeq	Phase_I	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	162	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		18			EF-hand 1.		Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	c.52C>A	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	15.36	2.809499	0.50421	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.15256	2.44;2.44	2.1	1.13	0.20643	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.17109	0.0411	L	0.55990	1.75	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.04855	-1.0922	9	0.72032	D	0.01	.	5.0686	0.14594	0.1839:0.0:0.8161:0.0	.	18	P31151	S10A7_HUMAN	N	18	ENSP00000357712:H18N;ENSP00000357711:H18N	ENSP00000357711:H18N	H	-	1	0	S100A7	151698062	0.007000	0.16637	0.003000	0.11579	0.749000	0.42624	0.739000	0.26173	0.441000	0.26529	0.194000	0.17425	CAC		0.438	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	0	NM_002963		1:153431438
ANK3	288	broad.mit.edu	37	10	61824022	61824022	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:61824022G>T	ENST00000280772.2	-	39	12535	c.12344C>A	c.(12343-12345)tCa>tAa	p.S4115*	ANK3_ENST00000373827.2_Nonsense_Mutation_p.S1496*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.S636*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.S1503*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4115	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCATCCACTGAAAAATTCAG	0.313																																						ENST00000280772.2		NA																	0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(12343-12345)tCa>tAa		ankyrin 3, node of Ranvier (ankyrin G)							72.0	76.0	75.0					10																	61824022		2203	4298	6501	SO:0001587	stop_gained	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61824022G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12344C>A	10.37:g.61824022G>T	ENSP00000280772:p.Ser4115*	True	False		Somatic	0				ANK3_ENST00000503366.1_Nonsense_Mutation_p.S1503*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.S636*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.S1496*	p.S4115*	NM_020987.3	NP_066267.2	WXS	Illumina HiSeq	Phase_I	Q12955	ANK3_HUMAN			39	12535	-			NA			Death.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	ENST00000280772.2	37	c.12344C>A	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.037921|6.037921	0.97226|0.97226	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000514197;ENST00000511043|ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.34245	.|N	.|0.004129	T|.	0.53334|.	0.1790|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42816|.	-0.9429|.	4|.	.|0.07813	.|T	.|0.8	.|.	19.1741|19.1741	0.93597|0.93597	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	9;62|4115;1496;94;636;636;1503;1482;737	.|.	.|ENSP00000280772:S4115X	Q|S	-|-	1|2	0|0	ANK3|ANK3	61494028|61494028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.863000|7.863000	0.87023|0.87023	2.530000|2.530000	0.85305|0.85305	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.313	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	0	NM_020987		10:61824022
FOLH1	2346	broad.mit.edu	37	11	49208253	49208253	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:49208253G>T	ENST00000256999.2	-	5	842	c.582C>A	c.(580-582)atC>atA	p.I194I	FOLH1_ENST00000340334.7_Silent_p.I179I|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Silent_p.I179I|FOLH1_ENST00000356696.3_Silent_p.I194I	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	194				I -> V (in Ref. 9; AAZ66619). {ECO:0000305}.	folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CAGAGCAATTGATTTTCATGT	0.363																																						ENST00000340334.7		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(535-537)atC>atA		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						75.0	81.0	79.0					11																	49208253		2201	4298	6499	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49208253G>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.582C>A	11.37:g.49208253G>T		False	False		Somatic	0				FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Silent_p.I179I|FOLH1_ENST00000356696.3_Silent_p.I194I|FOLH1_ENST00000256999.2_Silent_p.I194I	p.I179I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	WXS	Illumina HiSeq	Phase_I	Q04609	FOLH1_HUMAN			6	905	-			194					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.537C>A	CCDS7946.1																																																																																				0.363	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	0	NM_004476		11:49208253
EDA2R	60401	broad.mit.edu	37	X	65819559	65819559	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:65819559C>T	ENST00000374719.3	-	6	717	c.661G>A	c.(661-663)Gac>Aac	p.D221N	EDA2R_ENST00000450752.1_Missense_Mutation_p.D242N|EDA2R_ENST00000456230.2_Missense_Mutation_p.D221N|EDA2R_ENST00000253392.5_Missense_Mutation_p.D242N|EDA2R_ENST00000451436.2_Missense_Mutation_p.D97N|EDA2R_ENST00000396050.1_Missense_Mutation_p.D221N	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	221					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GAGCTGCAGTCGTCCTCGAGG	0.577																																						ENST00000374719.3		NA																	0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(661-663)Gac>Aac		ectodysplasin A2 receptor							78.0	50.0	60.0					X																	65819559		2203	4300	6503	SO:0001583	missense	60401				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	g.chrX:65819559C>T	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.661G>A	X.37:g.65819559C>T	ENSP00000363851:p.Asp221Asn	False	False		Somatic	0				EDA2R_ENST00000451436.2_Missense_Mutation_p.D97N|EDA2R_ENST00000396050.1_Missense_Mutation_p.D221N|EDA2R_ENST00000450752.1_Missense_Mutation_p.D242N|EDA2R_ENST00000456230.2_Missense_Mutation_p.D221N|EDA2R_ENST00000253392.5_Missense_Mutation_p.D242N	p.D221N	NM_021783.3	NP_068555	WXS	Illumina HiSeq	Phase_I	Q9HAV5	TNR27_HUMAN			6	717	-			221					Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	ENST00000374719.3	37	c.661G>A	CCDS14386.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868958	0.32977	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000451436;ENST00000253392;ENST00000456230;ENST00000450752	D;D;D;D;D	0.84800	-1.82;-1.82;-1.9;-1.82;-1.9	3.45	3.45	0.39498	.	0.596206	0.13903	N	0.354801	T	0.72859	0.3513	L	0.27053	0.805	0.29256	N	0.871661	P;B;B	0.36125	0.538;0.054;0.004	B;B;B	0.26416	0.069;0.004;0.002	T	0.66602	-0.5882	10	0.32370	T	0.25	-5.3956	11.6654	0.51370	0.0:1.0:0.0:0.0	.	97;242;221	E7EUS4;Q9HAV5-2;Q9HAV5	.;.;TNR27_HUMAN	N	221;221;97;242;221;242	ENSP00000363851:D221N;ENSP00000379365:D221N;ENSP00000253392:D242N;ENSP00000393935:D221N;ENSP00000402929:D242N	ENSP00000253392:D242N	D	-	1	0	EDA2R	65736284	0.005000	0.15991	0.832000	0.32986	0.881000	0.50899	0.252000	0.18278	1.573000	0.49748	0.523000	0.50628	GAC		0.577	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	0	NM_021783		X:65819559
SKIV2L2	23517	broad.mit.edu	37	5	54645456	54645456	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:54645456C>A	ENST00000230640.5	+	12	1550	c.1296C>A	c.(1294-1296)tcC>tcA	p.S432S	SKIV2L2_ENST00000545714.1_Silent_p.S331S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	432	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATTGCTTATCCGATGAAGATA	0.313																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5		NA																	0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1294-1296)tcC>tcA		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							71.0	77.0	75.0					5																	54645456		2203	4300	6503	SO:0001819	synonymous_variant	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54645456C>A	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1296C>A	5.37:g.54645456C>A		False	False		Somatic	0				SKIV2L2_ENST00000545714.1_Silent_p.S331S	p.S432S	NM_015360.4	NP_056175.3	WXS	Illumina HiSeq	Phase_I	P42285	SK2L2_HUMAN			12	1550	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	432			Helicase C-terminal.		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	c.1296C>A	CCDS3967.1																																																																																				0.313	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1	0			5:54645456
GRM4	2914	broad.mit.edu	37	6	34003600	34003600	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:34003600G>A	ENST00000538487.2	-	9	2730	c.2287C>T	c.(2287-2289)Ctc>Ttc	p.L763F	GRM4_ENST00000374177.3_Missense_Mutation_p.L647F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000544773.2_Missense_Mutation_p.L594F|GRM4_ENST00000609222.1_Missense_Mutation_p.L630F|GRM4_ENST00000455714.2_Missense_Mutation_p.L623F|GRM4_ENST00000374181.4_Missense_Mutation_p.L763F|GRM4_ENST00000535756.1_Missense_Mutation_p.L630F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	763					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTGACCATGAGCAGCATGCTG	0.602																																						ENST00000538487.2		NA																	0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2287-2289)Ctc>Ttc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						116.0	87.0	96.0					6																	34003600		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003600G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2287C>T	6.37:g.34003600G>A	ENSP00000440556:p.Leu763Phe	False	False		Somatic	0				GRM4_ENST00000535756.1_Missense_Mutation_p.L630F|GRM4_ENST00000609222.1_Missense_Mutation_p.L630F|GRM4_ENST00000374177.3_Missense_Mutation_p.L647F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Missense_Mutation_p.L623F|GRM4_ENST00000544773.2_Missense_Mutation_p.L594F|GRM4_ENST00000374181.4_Missense_Mutation_p.L763F	p.L763F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	WXS	Illumina HiSeq	Phase_I	Q14833	GRM4_HUMAN			9	2730	-			NA					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.2287C>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976898	0.74360	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	4.47	3.6	0.41247	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;1.0	D;D;D;D;D	0.85130	0.989;0.997;0.997;0.959;0.993	D	0.99174	1.0865	10	0.87932	D	0	.	12.6781	0.56906	0.0805:0.0:0.9195:0.0	.	716;594;623;763;630	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	F	763;647;455;630;594;763;623	ENSP00000363296:L763F;ENSP00000363292:L647F;ENSP00000445533:L455F;ENSP00000437925:L630F;ENSP00000437730:L594F;ENSP00000440556:L763F;ENSP00000398456:L623F	ENSP00000363292:L647F	L	-	1	0	GRM4	34111578	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.728000	0.84847	1.087000	0.41251	0.455000	0.32223	CTC		0.602	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2	0			6:34003600
MPHOSPH10	10199	broad.mit.edu	37	2	71368410	71368410	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:71368410G>T	ENST00000244230.2	+	7	1709	c.1357G>T	c.(1357-1359)Gaa>Taa	p.E453*		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	453					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GGATGCATATGAATATAAAAA	0.363																																						ENST00000244230.2		NA																	0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						c.(1357-1359)Gaa>Taa		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							166.0	180.0	175.0					2																	71368410		2203	4300	6503	SO:0001587	stop_gained	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71368410G>T	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1357G>T	2.37:g.71368410G>T	ENSP00000244230:p.Glu453*	False	False		Somatic	0					p.E453*	NM_005791.2	NP_005782.1	WXS	Illumina HiSeq	Phase_I	O00566	MPP10_HUMAN			7	1709	+			453					A0AVJ8	Nonsense_Mutation	SNP	ENST00000244230.2	37	c.1357G>T	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	42	9.318101	0.99135	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	.	.	.	5.52	5.52	0.82312	.	0.151884	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	17.3088	0.87202	0.0:0.0:1.0:0.0	.	.	.	.	X	453;313	.	ENSP00000244230:E453X	E	+	1	0	MPHOSPH10	71221918	1.000000	0.71417	0.944000	0.38274	0.985000	0.73830	5.629000	0.67798	2.769000	0.95229	0.491000	0.48974	GAA		0.363	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	0	NM_005791		2:71368410
TIMM21	29090	broad.mit.edu	37	18	71816100	71816100	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:71816100G>T	ENST00000169551.6	+	1	355	c.57G>T	c.(55-57)tcG>tcT	p.S19S	FBXO15_ENST00000419743.2_5'Flank|FBXO15_ENST00000269500.5_5'Flank|TIMM21_ENST00000580087.1_Silent_p.S19S	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	19					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											ACAGGTCCTCGGCAAAGCGAT	0.458																																						ENST00000580087.1		NA																	0					NA						c.(55-57)tcG>tcT		translocase of inner mitochondrial membrane 21 homolog (yeast)							169.0	168.0	169.0					18																	71816100		2203	4300	6503	SO:0001819	synonymous_variant	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71816100G>T	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.57G>T	18.37:g.71816100G>T		False	False		Somatic	0				TIMM21_ENST00000169551.6_Silent_p.S19S	p.S19S			WXS	Illumina HiSeq	Phase_I	Q9BVV7	TI21L_HUMAN			1	343	+			19					Q9P010	Silent	SNP	ENST00000169551.6	37	c.57G>T	CCDS12003.1																																																																																				0.458	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	0	NM_014177		18:71816100
HFM1	164045	broad.mit.edu	37	1	91816409	91816409	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:91816409C>A	ENST00000370425.3	-	18	2190	c.2092G>T	c.(2092-2094)Gaa>Taa	p.E698*	HFM1_ENST00000370424.3_Nonsense_Mutation_p.E377*|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	698	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTAAATGTTCAATAAGATGT	0.308																																						ENST00000370425.3		NA																	0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(2092-2094)Gaa>Taa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							119.0	110.0	113.0					1																	91816409		1836	4089	5925	SO:0001587	stop_gained	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91816409C>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2092G>T	1.37:g.91816409C>A	ENSP00000359454:p.Glu698*	False	False		Somatic	0				HFM1_ENST00000370424.3_Nonsense_Mutation_p.E377*|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_Intron	p.E698*	NM_001017975.3	NP_001017975.3	WXS	Illumina HiSeq	Phase_I	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	18	2190	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	698			Helicase C-terminal.		B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	ENST00000370425.3	37	c.2092G>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	40	8.503240	0.98838	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421	.	.	.	5.32	4.4	0.53042	.	0.000000	0.46442	U	0.000299	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7422	0.77910	0.1376:0.8624:0.0:0.0	.	.	.	.	X	698;377;382	.	ENSP00000359450:E382X	E	-	1	0	HFM1	91588997	1.000000	0.71417	0.986000	0.45419	0.768000	0.43524	7.720000	0.84759	1.355000	0.45865	0.460000	0.39030	GAA		0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	0	NM_001017975		1:91816409
RIC1	57589	broad.mit.edu	37	9	5763327	5763327	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:5763327G>T	ENST00000414202.2	+	19	2491	c.2300G>T	c.(2299-2301)cGg>cTg	p.R767L	KIAA1432_ENST00000449720.2_Missense_Mutation_p.R651L|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R688L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R688L|KIAA1432_ENST00000251879.6_Missense_Mutation_p.R767L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.R688L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTGTCCCAGCGGATCATGCTG	0.517																																						ENST00000414202.2		NA																	1	Substitution - Missense(1)	p.R688L(1)	lung(1)	breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(2299-2301)cGg>cTg		KIAA1432							243.0	220.0	228.0					9																	5763327		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5763327G>T																												ENST00000414202.2:c.2300G>T	9.37:g.5763327G>T	ENSP00000416696:p.Arg767Leu	False	False		Somatic	0				KIAA1432_ENST00000251879.6_Missense_Mutation_p.R767L|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R688L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R688L|KIAA1432_ENST00000449720.2_Missense_Mutation_p.R651L	p.R767L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	WXS	Illumina HiSeq	Phase_I	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	19	2491	+		Acute lymphoblastic leukemia(23;0.154)	767						Missense_Mutation	SNP	ENST00000414202.2	37	c.2300G>T	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794235	0.90453	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	5.78	5.78	0.91487	Ribosome control protein 1 (1);	0.000000	0.85682	D	0.000000	D	0.85062	0.5611	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.997	D	0.85507	0.1195	9	0.51188	T	0.08	-19.9006	20.0079	0.97439	0.0:0.0:1.0:0.0	.	651;688;767;767	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	L	767;767;688;688;651	.	ENSP00000251879:R767L	R	+	2	0	KIAA1432	5753327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.726000	0.93360	0.561000	0.74099	CGG		0.517	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3	0			9:5763327
STAG2	10735	broad.mit.edu	37	X	123200044	123200044	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:123200044T>G	ENST00000371160.1	+	22	2406	c.2116T>G	c.(2116-2118)Tgg>Ggg	p.W706G	STAG2_ENST00000371145.3_Missense_Mutation_p.W706G|STAG2_ENST00000371144.3_Missense_Mutation_p.W706G|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.W706G|STAG2_ENST00000371157.3_Missense_Mutation_p.W706G|STAG2_ENST00000354548.5_Missense_Mutation_p.W637G	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	706				W -> R (in Ref. 5; CAA99732). {ECO:0000305}.	meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCTTTCAAAGTGGGATTTATT	0.289																																						ENST00000371160.1		NA																	0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2116-2118)Tgg>Ggg		stromal antigen 2							67.0	68.0	68.0					X																	123200044		2202	4298	6500	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123200044T>G	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2116T>G	X.37:g.123200044T>G	ENSP00000360202:p.Trp706Gly	True	False		Somatic	0				STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.W706G|STAG2_ENST00000218089.9_Missense_Mutation_p.W706G|STAG2_ENST00000371157.3_Missense_Mutation_p.W706G|STAG2_ENST00000371145.3_Missense_Mutation_p.W706G|STAG2_ENST00000354548.5_Missense_Mutation_p.W637G	p.W706G	NM_001282418.1	NP_001269347.1	WXS	Illumina HiSeq	Phase_I	Q8N3U4	STAG2_HUMAN			22	2406	+			706	W -> R (in Ref. 5; CAA99732).				B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2116T>G	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.899217	0.52227	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.76	5.76	0.90799	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	M	0.87456	2.885	0.80722	D	1	B;B	0.30511	0.282;0.185	B;B	0.36244	0.22;0.144	T	0.45483	-0.9258	10	0.40728	T	0.16	-21.7395	15.0823	0.72125	0.0:0.0:0.0:1.0	.	706;706	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	G	706;637;706;706;706;706	ENSP00000218089:W706G;ENSP00000346555:W637G;ENSP00000360202:W706G;ENSP00000360199:W706G;ENSP00000360187:W706G;ENSP00000360186:W706G	ENSP00000218089:W706G	W	+	1	0	STAG2	123027725	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	1.944000	0.56390	0.486000	0.48141	TGG		0.289	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	0	NM_006603		X:123200044
TRIM42	287015	broad.mit.edu	37	3	140401487	140401487	+	Silent	SNP	G	G	A	rs574747515		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401487G>A	ENST00000286349.3	+	2	716	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	175						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						AGCTGCAGAAGCACGCCGAGG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19979	0.0		0.0	False		,,,				2504	0.0					ENST00000286349.3		NA																	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.(523-525)aaG>aaA		tripartite motif containing 42							101.0	92.0	95.0					3																	140401487		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140401487G>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.525G>A	3.37:g.140401487G>A		False	False		Somatic	0					p.K175K	NM_152616.4	NP_689829.3	WXS	Illumina HiSeq	Phase_I	Q8IWZ5	TRI42_HUMAN			2	716	+			175					A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.525G>A	CCDS3113.1																																																																																				0.607	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	0	NM_152616		3:140401487
DCC	1630	broad.mit.edu	37	18	50961541	50961541	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:50961541C>A	ENST00000442544.2	+	22	3807	c.3191C>A	c.(3190-3192)cCa>cAa	p.P1064Q	DCC_ENST00000581580.1_Missense_Mutation_p.P699Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1064					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGTTATTGGCCAGTTGATACT	0.299																																						ENST00000442544.2		NA																	0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3190-3192)cCa>cAa		deleted in colorectal carcinoma							218.0	220.0	219.0					18																	50961541		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50961541C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3191C>A	18.37:g.50961541C>A	ENSP00000389140:p.Pro1064Gln	False	False		Somatic	0				DCC_ENST00000581580.1_Missense_Mutation_p.P699Q	p.P1064Q	NM_005215.3	NP_005206.2	WXS	Illumina HiSeq	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	22	3807	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1064						Missense_Mutation	SNP	ENST00000442544.2	37	c.3191C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974234	0.34848	.	.	ENSG00000187323	ENST00000442544	T	0.51817	0.69	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000002	T	0.50905	0.1643	L	0.53249	1.67	0.42889	D	0.994199	P	0.45044	0.849	P	0.47206	0.541	T	0.43861	-0.9365	10	0.27082	T	0.32	-5.7624	16.0065	0.80367	0.0:1.0:0.0:0.0	.	1064	P43146	DCC_HUMAN	Q	1064	ENSP00000389140:P1064Q	ENSP00000389140:P1064Q	P	+	2	0	DCC	49215539	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.011000	0.64011	2.593000	0.87608	0.655000	0.94253	CCA		0.299	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	0	NM_005215		18:50961541
RHOT1	55288	broad.mit.edu	37	17	30521075	30521075	+	Missense_Mutation	SNP	G	G	T	rs116192944		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:30521075G>T	ENST00000333942.6	+	11	1057	c.818G>T	c.(817-819)cGa>cTa	p.R273L	RHOT1_ENST00000581094.1_Missense_Mutation_p.R273L|RHOT1_ENST00000394692.2_Missense_Mutation_p.R273L|RHOT1_ENST00000354266.3_Missense_Mutation_p.R252L|RHOT1_ENST00000358365.3_Missense_Mutation_p.R273L|RHOT1_ENST00000583994.1_Missense_Mutation_p.R146L|RHOT1_ENST00000545287.2_Missense_Mutation_p.R273L|RHOT1_ENST00000580976.1_3'UTR	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	273					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GTGCTTCGACGATTTGGTTAT	0.333																																						ENST00000358365.3		NA																	0				NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(817-819)cGa>cTa		ras homolog family member T1							475.0	464.0	468.0					17																	30521075		2203	4300	6503	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30521075G>T	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.818G>T	17.37:g.30521075G>T	ENSP00000334724:p.Arg273Leu	False	False		Somatic	0				RHOT1_ENST00000333942.6_Missense_Mutation_p.R273L|RHOT1_ENST00000354266.3_Missense_Mutation_p.R252L|RHOT1_ENST00000545287.2_Missense_Mutation_p.R273L|RHOT1_ENST00000583994.1_Missense_Mutation_p.R146L|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000581094.1_Missense_Mutation_p.R273L|RHOT1_ENST00000394692.2_Missense_Mutation_p.R273L	p.R273L	NM_001033568.1	NP_001028740.1	WXS	Illumina HiSeq	Phase_I	Q8IXI2	MIRO1_HUMAN			11	1045	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	273					A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.818G>T	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613425	0.66672	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.42513	0.97;0.97;0.97	5.97	5.97	0.96955	EF hand associated, type-2 (1);	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.71674	0.994;0.998;0.987;0.984	D;D;P;P	0.74348	0.917;0.983;0.851;0.875	T	0.73665	-0.3911	10	0.87932	D	0	-5.1279	20.4135	0.99023	0.0:0.0:1.0:0.0	.	273;273;273;273	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	L	273	ENSP00000351132:R273L;ENSP00000378184:R273L;ENSP00000334724:R273L	ENSP00000334724:R273L	R	+	2	0	RHOT1	27545188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.022000	0.88759	2.835000	0.97688	0.591000	0.81541	CGA		0.333	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	0	NM_018307		17:30521075
MGA	23269	broad.mit.edu	37	15	42019576	42019576	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:42019576G>T	ENST00000570161.1	+	9	3629	c.3629G>T	c.(3628-3630)cGg>cTg	p.R1210L	MGA_ENST00000389936.4_Missense_Mutation_p.R1210L|MGA_ENST00000566586.1_Missense_Mutation_p.R1210L|MGA_ENST00000219905.7_Missense_Mutation_p.R1210L|MGA_ENST00000545763.1_Missense_Mutation_p.R1210L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAATCTCCACGGTCATATACT	0.398																																						ENST00000219905.7		NA																	0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3628-3630)cGg>cTg		MGA, MAX dimerization protein							153.0	146.0	148.0					15																	42019576		1856	4093	5949	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42019576G>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.3629G>T	15.37:g.42019576G>T	ENSP00000457035:p.Arg1210Leu	False	False		Somatic	0				MGA_ENST00000389936.4_Missense_Mutation_p.R1210L|MGA_ENST00000570161.1_Missense_Mutation_p.R1210L|MGA_ENST00000566586.1_Missense_Mutation_p.R1210L|MGA_ENST00000545763.1_Missense_Mutation_p.R1210L	p.R1210L	NM_001164273.1	NP_001157745.1	WXS	Illumina HiSeq	Phase_I	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	10	3810	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1210					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.3629G>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224774	0.58668	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.86865	-2.15;-2.18;-2.09	5.98	5.07	0.68467	.	0.428361	0.20611	N	0.088972	D	0.88496	0.6452	N	0.24115	0.695	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.947	T	0.82168	-0.0591	10	0.87932	D	0	.	13.2741	0.60178	0.0727:0.0:0.9273:0.0	.	1210;1210	F5H7K2;E7ENI0	.;.	L	1210	ENSP00000219905:R1210L;ENSP00000374586:R1210L;ENSP00000442467:R1210L	ENSP00000219905:R1210L	R	+	2	0	MGA	39806868	0.916000	0.31088	0.010000	0.14722	0.361000	0.29550	2.809000	0.47971	1.541000	0.49316	0.655000	0.94253	CGG		0.398	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	0	NM_001164273.1		15:42019576
ANXA11	311	broad.mit.edu	37	10	81930605	81930605	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:81930605T>C	ENST00000438331.1	-	5	604	c.122A>G	c.(121-123)aAc>aGc	p.N41S	ANXA11_ENST00000360615.4_Missense_Mutation_p.N41S|ANXA11_ENST00000422982.3_Missense_Mutation_p.N41S|ANXA11_ENST00000463657.1_5'Flank|ANXA11_ENST00000265447.4_Missense_Mutation_p.N41S|ANXA11_ENST00000372231.3_Missense_Mutation_p.N41S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N8S|ANXA11_ENST00000535999.1_Missense_Mutation_p.N41S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	41					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.N41I(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGTGGCCACGTTATCCAGCCC	0.652																																						ENST00000438331.1		NA																	1	Substitution - Missense(1)	p.N41I(1)	ovary(1)	endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(121-123)aAc>aGc		annexin A11							73.0	65.0	67.0					10																	81930605		2203	4300	6503	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81930605T>C	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.122A>G	10.37:g.81930605T>C	ENSP00000398610:p.Asn41Ser	False	False		Somatic	0				ANXA11_ENST00000372231.3_Missense_Mutation_p.N41S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N41S|ANXA11_ENST00000535999.1_Missense_Mutation_p.N41S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N41S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N8S|ANXA11_ENST00000422982.3_Missense_Mutation_p.N41S	p.N41S	NM_145869.1	NP_665876.1	WXS	Illumina HiSeq	Phase_I	P50995	ANX11_HUMAN	Colorectal(32;0.109)		5	604	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		41					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.122A>G	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.921685	0.33908	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799	T;T;T;T;T;T;T	0.02280	4.55;4.55;4.55;4.55;4.55;4.55;4.36	4.69	4.69	0.59074	.	3.387150	0.00706	N	0.000810	T	0.06735	0.0172	N	0.22421	0.69	0.45066	D	0.998081	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70227	0.968;0.935;0.935	T	0.52124	-0.8617	10	0.08381	T	0.77	.	12.4176	0.55502	0.0:0.0:0.0:1.0	.	141;41;41	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	S	41;41;41;41;41;41;41;8;41;41	ENSP00000361305:N41S;ENSP00000404412:N41S;ENSP00000398610:N41S;ENSP00000353827:N41S;ENSP00000265447:N41S;ENSP00000441748:N41S;ENSP00000441400:N8S	ENSP00000265447:N41S	N	-	2	0	ANXA11	81920585	1.000000	0.71417	0.992000	0.48379	0.096000	0.18686	4.811000	0.62606	1.886000	0.54624	0.364000	0.22116	AAC		0.652	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	0	NM_145869		10:81930605
FAM53A	152877	broad.mit.edu	37	4	1656790	1656790	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:1656790C>G	ENST00000308132.6	-	4	989	c.797G>C	c.(796-798)aGt>aCt	p.S266T	FAM53A_ENST00000472884.2_Missense_Mutation_p.S266T|FAM53A_ENST00000461064.1_Missense_Mutation_p.S266T|FAM53A_ENST00000489363.1_Missense_Mutation_p.S266T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	266						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CCTCTTCCCACTGAGCACGCA	0.677																																						ENST00000308132.6		NA																	0				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(796-798)aGt>aCt		family with sequence similarity 53, member A							27.0	24.0	25.0					4																	1656790		2202	4300	6502	SO:0001583	missense	152877					nucleus		g.chr4:1656790C>G	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.797G>C	4.37:g.1656790C>G	ENSP00000310057:p.Ser266Thr	False	False		Somatic	0				FAM53A_ENST00000461064.1_Missense_Mutation_p.S266T|FAM53A_ENST00000489363.1_Missense_Mutation_p.S266T|FAM53A_ENST00000472884.2_Missense_Mutation_p.S266T	p.S266T	NM_001174070.1	NP_001167541.1	WXS	Illumina HiSeq	Phase_I	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		4	989	-		all_epithelial(65;0.206)|Breast(71;0.212)	266					Q6ZUL5	Missense_Mutation	SNP	ENST00000308132.6	37	c.797G>C	CCDS33939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.723|7.723	0.697617|0.697617	0.15106|0.15106	.|.	.|.	ENSG00000174137|ENSG00000174137	ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884|ENST00000489029	T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95|.	4.51|4.51	-5.78|-5.78	0.02362|0.02362	.|.	0.662582|.	0.12351|.	N|.	0.476531|.	T|T	0.27629|0.27629	0.0679|0.0679	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;P|.	0.34757|.	0.372;0.467|.	B;B|.	0.32677|.	0.15;0.105|.	T|T	0.30179|0.30179	-0.9987|-0.9987	10|5	0.66056|.	D|.	0.02|.	-26.8945|-26.8945	4.7646|4.7646	0.13127|0.13127	0.1041:0.1229:0.124:0.649|0.1041:0.1229:0.124:0.649	.|.	266;266|.	Q6NSI3;C9JYQ7|.	FA53A_HUMAN;.|.	T|L	266|116	ENSP00000310057:S266T;ENSP00000419044:S266T;ENSP00000418243:S266T;ENSP00000426260:S266T|.	ENSP00000310057:S266T|.	S|V	-|-	2|1	0|0	FAM53A|FAM53A	1626587|1626587	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.064000|0.064000	0.16182|0.16182	0.666000|0.666000	0.25097|0.25097	-1.332000|-1.332000	0.02249|0.02249	0.563000|0.563000	0.77884|0.77884	AGT|GTG		0.677	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	0	NM_001013622		4:1656790
RNF213	57674	broad.mit.edu	37	17	78338344	78338344	+	Silent	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:78338344A>G	ENST00000582970.1	+	42	12005	c.11862A>G	c.(11860-11862)ttA>ttG	p.L3954L	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.L2027L|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.L4003L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3954					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)			ACGTCTTCTTACTAGACAAGG	0.582																																						ENST00000582970.1		NA																	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.(11860-11862)ttA>ttG		ring finger protein 213							70.0	66.0	67.0					17																	78338344		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78338344A>G	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.11862A>G	17.37:g.78338344A>G		False	False		Somatic	0				RNF213_ENST00000336301.6_Silent_p.L2027L|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.L4003L|CTD-2047H16.4_ENST00000572151.1_RNA	p.L3954L	NM_001256071.1	NP_001243000.1	WXS	Illumina HiSeq	Phase_I	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		42	12005	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.11862A>G	CCDS58606.1																																																																																				0.582	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	0	NM_020914		17:78338344
ARR3	407	broad.mit.edu	37	X	69497974	69497974	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:69497974C>A	ENST00000307959.8	+	11	804	c.753C>A	c.(751-753)ttC>ttA	p.F251L	ARR3_ENST00000374495.3_Missense_Mutation_p.F251L	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	251					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AGACTGTGTTCATTCAGGAAT	0.512																																						ENST00000374495.3		NA																	0				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						c.(751-753)ttC>ttA		arrestin 3, retinal (X-arrestin)							95.0	70.0	78.0					X																	69497974		2203	4300	6503	SO:0001583	missense	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69497974C>A		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.753C>A	X.37:g.69497974C>A	ENSP00000311538:p.Phe251Leu	True	False		Somatic	0				ARR3_ENST00000307959.8_Missense_Mutation_p.F251L	p.F251L			WXS	Illumina HiSeq	Phase_I	P36575	ARRC_HUMAN			11	851	+			251					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.753C>A	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423118	0.43020	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.16196	2.36;2.36	4.45	2.62	0.31277	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.463590	0.25622	N	0.029404	T	0.07279	0.0184	N	0.04162	-0.26	0.33290	D	0.563337	P;B	0.38280	0.625;0.001	B;B	0.34931	0.192;0.002	T	0.23547	-1.0185	10	0.44086	T	0.13	.	9.4817	0.38904	0.0:0.8173:0.0:0.1827	.	251;251	P36575;P36575-2	ARRC_HUMAN;.	L	251	ENSP00000363619:F251L;ENSP00000311538:F251L	ENSP00000311538:F251L	F	+	3	2	ARR3	69414699	0.664000	0.27457	0.266000	0.24541	0.988000	0.76386	1.268000	0.33062	0.260000	0.21731	0.513000	0.50165	TTC		0.512	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	0	NM_004312		X:69497974
MMGT1	93380	broad.mit.edu	37	X	135049610	135049610	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:135049610C>A	ENST00000305963.2	-	3	562	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C	MMGT1_ENST00000433339.2_Missense_Mutation_p.G124C	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	59					magnesium ion transport (GO:0015693)	early endosome (GO:0005769)|ER membrane protein complex (GO:0072546)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|endometrium(1)|kidney(1)	3						TGAACTATACCGTAACAGGTA	0.318																																						ENST00000305963.2		NA																	0				cervix(1)|endometrium(1)|kidney(1)	3						c.(175-177)Ggt>Tgt		membrane magnesium transporter 1							131.0	124.0	126.0					X																	135049610		2203	4300	6503	SO:0001583	missense	93380					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity	g.chrX:135049610C>A	AL157477	CCDS14653.1	Xq26.3	2012-05-23	2008-11-21	2008-11-21	ENSG00000169446	ENSG00000169446			28100	protein-coding gene	gene with protein product	"""ER membrane protein complex subunit 5"""		"""transmembrane protein 32"""	TMEM32		18057121, 22119785	Standard	NM_173470		Approved	EMC5	uc004ezi.1	Q8N4V1	OTTHUMG00000022499	ENST00000305963.2:c.175G>T	X.37:g.135049610C>A	ENSP00000306220:p.Gly59Cys	False	False		Somatic	0				MMGT1_ENST00000433339.2_Missense_Mutation_p.G124C	p.G59C	NM_173470.1	NP_775741.1	WXS	Illumina HiSeq	Phase_I	Q8N4V1	MMGT1_HUMAN			3	562	-			59					B2R625|B4DIY3|D3DWG7|Q5JPP7	Missense_Mutation	SNP	ENST00000305963.2	37	c.175G>T	CCDS14653.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545456	0.86022	.	.	ENSG00000169446	ENST00000305963;ENST00000433339	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86167	0.1597	9	0.87932	D	0	.	16.9176	0.86155	0.0:1.0:0.0:0.0	.	124;59	Q8N4V1-2;Q8N4V1	.;MMGT1_HUMAN	C	59;124	.	ENSP00000306220:G59C	G	-	1	0	MMGT1	134877276	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.289000	0.77006	0.600000	0.82982	GGT		0.318	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058453.3	0	NM_173470		X:135049610
OR51A4	401666	broad.mit.edu	37	11	4967898	4967898	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:4967898G>T	ENST00000380373.2	-	1	458	c.433C>A	c.(433-435)Caa>Aaa	p.Q145K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCCTATTTGGGCAACTCTG	0.428																																						ENST00000380373.2		NA																	0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(433-435)Caa>Aaa		olfactory receptor, family 51, subfamily A, member 4							216.0	220.0	218.0					11																	4967898		2191	4269	6460	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967898G>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.433C>A	11.37:g.4967898G>T	ENSP00000369731:p.Gln145Lys	True	False		Somatic	0				MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.Q145K	NM_001005329.1	NP_001005329.1	WXS	Illumina HiSeq	Phase_I	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	458	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	145						Missense_Mutation	SNP	ENST00000380373.2	37	c.433C>A	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	G	2.048	-0.418366	0.04766	.	.	ENSG00000205497	ENST00000380373	T	0.71341	-0.56	3.58	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.39384	0.1076	N	0.02225	-0.63	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21042	-1.0257	9	0.02654	T	1	.	11.0806	0.48057	0.0:0.0:0.4766:0.5234	.	145	Q8NGJ6	O51A4_HUMAN	K	145	ENSP00000369731:Q145K	ENSP00000369731:Q145K	Q	-	1	0	OR51A4	4924474	0.000000	0.05858	0.013000	0.15412	0.779000	0.44077	-0.888000	0.04148	0.227000	0.20999	0.580000	0.79431	CAA		0.428	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	0	NM_001005329		11:4967898
TRPV6	55503	broad.mit.edu	37	7	142571251	142571251	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142571251C>A	ENST00000359396.3	-	13	1983	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	580					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGTGAGTGTCGCCCATCATG	0.597																																						ENST00000359396.3		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1738-1740)Gac>Tac		transient receptor potential cation channel, subfamily V, member 6							147.0	123.0	131.0					7																	142571251		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142571251C>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1738G>T	7.37:g.142571251C>A	ENSP00000352358:p.Asp580Tyr	False	False		Somatic	0					p.D580Y	NM_018646.3	NP_061116	WXS	Illumina HiSeq	Phase_I	Q9H1D0	TRPV6_HUMAN			13	1983	-	Melanoma(164;0.059)		580					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1738G>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048747	0.93740	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.92647	-3.08	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96396	0.9293	10	0.54805	T	0.06	-37.5871	18.5442	0.91040	0.0:1.0:0.0:0.0	.	580	Q9H1D0	TRPV6_HUMAN	Y	580;412	ENSP00000352358:D580Y	ENSP00000310825:D412Y	D	-	1	0	TRPV6	142281373	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.741000	0.84997	2.613000	0.88420	0.655000	0.94253	GAC		0.597	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	0	NM_014274		7:142571251
TPP2	7174	broad.mit.edu	37	13	103328763	103328763	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:103328763C>A	ENST00000376065.4	+	28	3694	c.3658C>A	c.(3658-3660)Caa>Aaa	p.Q1220K	TPP2_ENST00000376052.3_Missense_Mutation_p.Q1233K|TPP2_ENST00000466153.1_3'UTR	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1220					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAATTGTATTCAAGTAAGTGA	0.308																																						ENST00000376052.3		NA																	0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(3697-3699)Caa>Aaa		tripeptidyl peptidase II							55.0	58.0	57.0					13																	103328763		2198	4289	6487	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103328763C>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.3658C>A	13.37:g.103328763C>A	ENSP00000365233:p.Gln1220Lys	True	False		Somatic	0				TPP2_ENST00000376065.4_Missense_Mutation_p.Q1220K|TPP2_ENST00000466153.1_3'UTR	p.Q1233K			WXS	Illumina HiSeq	Phase_I	P29144	TPP2_HUMAN			29	3713	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1220					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.3697C>A	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183587	0.57800	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	L	0.55481	1.735	0.80722	D	1	P	0.44006	0.824	B	0.36092	0.217	T	0.50849	-0.8779	9	0.12430	T	0.62	.	20.0563	0.97651	0.0:1.0:0.0:0.0	.	1220	P29144	TPP2_HUMAN	K	1220;1233	.	ENSP00000365220:Q1233K	Q	+	1	0	TPP2	102126764	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.140000	0.77322	2.746000	0.94184	0.563000	0.77884	CAA		0.308	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2	0			13:103328763
MACF1	23499	broad.mit.edu	37	1	39907708	39907708	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:39907708C>A	ENST00000372915.3	+	74	18541	c.18454C>A	c.(18454-18456)Cag>Aag	p.Q6152K	MACF1_ENST00000567887.1_Missense_Mutation_p.Q6290K|MACF1_ENST00000317713.7_Missense_Mutation_p.Q4194K|MACF1_ENST00000361689.2_Missense_Mutation_p.Q4194K|MACF1_ENST00000289893.4_Missense_Mutation_p.Q4696K|MACF1_ENST00000564288.1_Missense_Mutation_p.Q6253K|MACF1_ENST00000545844.1_Missense_Mutation_p.Q4194K|MACF1_ENST00000539005.1_Missense_Mutation_p.Q4064K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6152					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTTAAAGATCAGTTAAATGA	0.358																																						ENST00000564288.1		NA																	0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(18757-18759)Cag>Aag		microtubule-actin crosslinking factor 1							105.0	99.0	101.0					1																	39907708		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39907708C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18454C>A	1.37:g.39907708C>A	ENSP00000362006:p.Gln6152Lys	False	False		Somatic	0				MACF1_ENST00000372915.3_Missense_Mutation_p.Q6152K|MACF1_ENST00000317713.7_Missense_Mutation_p.Q4194K|MACF1_ENST00000361689.2_Missense_Mutation_p.Q4194K|MACF1_ENST00000539005.1_Missense_Mutation_p.Q4064K|MACF1_ENST00000567887.1_Missense_Mutation_p.Q6290K|MACF1_ENST00000545844.1_Missense_Mutation_p.Q4194K|MACF1_ENST00000289893.4_Missense_Mutation_p.Q4696K	p.Q6253K			WXS	Illumina HiSeq	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		75	19534	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6262					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.18757C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.762666|4.762666	0.89932|0.89932	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000014|.	T|.	0.81861|.	0.4912|.	M|M	0.80746|0.80746	2.51|2.51	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.995;1.0|.	D;D|.	0.91635|.	0.983;0.999|.	T|.	0.81797|.	-0.0768|.	10|.	0.87932|.	D|.	0|.	.|.	19.6758|19.6758	0.95932|0.95932	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	6152;4194|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	K|X	4194;6152;4194;4194;4064;4696|3197	ENSP00000439537:Q4194K;ENSP00000362006:Q6152K;ENSP00000354573:Q4194K;ENSP00000313438:Q4194K;ENSP00000444364:Q4064K;ENSP00000289893:Q4696K|.	ENSP00000289893:Q4696K|.	Q|S	+|+	1|2	0|0	MACF1|MACF1	39680295|39680295	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.487000|7.487000	0.81328|0.81328	2.644000|2.644000	0.89710|0.89710	0.561000|0.561000	0.74099|0.74099	CAG|TCA		0.358	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	NM_033044		1:39907708
SF3B3	23450	broad.mit.edu	37	16	70564776	70564776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:70564776G>T	ENST00000302516.5	+	4	737	c.526G>T	c.(526-528)Gga>Tga	p.G176*	SNORD111B_ENST00000408587.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	176					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTAGATGTCGGATTTGAAAA	0.413																																						ENST00000302516.5		NA																	0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(526-528)Gga>Tga		splicing factor 3b, subunit 3, 130kDa							220.0	212.0	214.0					16																	70564776		2198	4300	6498	SO:0001587	stop_gained	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70564776G>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.526G>T	16.37:g.70564776G>T	ENSP00000305790:p.Gly176*	False	False		Somatic	0					p.G176*	NM_012426.4	NP_036558.3	WXS	Illumina HiSeq	Phase_I	Q15393	SF3B3_HUMAN			4	737	+		Ovarian(137;0.0694)	176					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Nonsense_Mutation	SNP	ENST00000302516.5	37	c.526G>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	39	7.579056	0.98371	.	.	ENSG00000189091	ENST00000302516;ENST00000310750	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.521	0.95184	0.0:0.0:1.0:0.0	.	.	.	.	X	176	.	ENSP00000305790:G176X	G	+	1	0	SF3B3	69122277	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.859000	0.99545	2.615000	0.88500	0.579000	0.79373	GGA		0.413	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	0	NM_012426		16:70564776
DMXL2	23312	broad.mit.edu	37	15	51763499	51763499	+	Missense_Mutation	SNP	G	G	T	rs372032462		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:51763499G>T	ENST00000251076.5	-	29	7597	c.7310C>A	c.(7309-7311)cCg>cAg	p.P2437Q	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.P2438Q|DMXL2_ENST00000449909.3_Missense_Mutation_p.P1801Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2437						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGCAGGCACCGGTGGTGGGGT	0.443																																						ENST00000251076.5		NA																	0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(7309-7311)cCg>cAg		Dmx-like 2							188.0	182.0	184.0					15																	51763499		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51763499G>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7310C>A	15.37:g.51763499G>T	ENSP00000251076:p.Pro2437Gln	False	False		Somatic	0				RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.P2438Q|DMXL2_ENST00000449909.3_Missense_Mutation_p.P1801Q	p.P2437Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	WXS	Illumina HiSeq	Phase_I	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	29	7597	-			2437					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.7310C>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563561	0.65651	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.22945	2.07;2.07;1.93	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.44477	0.1295	L	0.43152	1.355	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.666	D;D;D;B	0.91635	0.991;0.997;0.999;0.269	T	0.05402	-1.0887	10	0.27785	T	0.31	.	19.1462	0.93469	0.0:0.0:1.0:0.0	.	2438;1801;2437;2438	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	Q	2437;2438;1801	ENSP00000251076:P2437Q;ENSP00000441858:P2438Q;ENSP00000400855:P1801Q	ENSP00000251076:P2437Q	P	-	2	0	DMXL2	49550791	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	8.985000	0.93487	2.758000	0.94735	0.561000	0.74099	CCG		0.443	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	0	NM_015263		15:51763499
THAP1	55145	broad.mit.edu	37	8	42693251	42693251	+	Missense_Mutation	SNP	C	C	T	rs138918468		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:42693251C>T	ENST00000254250.3	-	3	726	c.496G>A	c.(496-498)Gca>Aca	p.A166T	THAP1_ENST00000532093.1_5'Flank|THAP1_ENST00000345117.2_3'UTR	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	166			A -> T (in DYT6). {ECO:0000269|PubMed:20083799}.		cell cycle (GO:0007049)|endothelial cell proliferation (GO:0001935)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGCTGCTGTGCGGTCTTGAGC	0.443																																						ENST00000254250.3		NA																	0				NS(1)|lung(4)|prostate(1)|skin(1)	7						c.(496-498)Gca>Aca		THAP domain containing, apoptosis associated protein 1		C	THR/ALA,	1,4405	2.1+/-5.4	0,1,2202	143.0	134.0	137.0		496,	5.5	0.9	8	dbSNP_134	137	0,8600		0,0,4300	no	missense,utr-3	THAP1	NM_018105.2,NM_199003.1	58,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,	166/214,	42693251	1,13005	2203	4300	6503	SO:0001583	missense	55145				cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding	g.chr8:42693251C>T	BC021721	CCDS6136.1, CCDS6137.1	8p11.1	2013-01-25			ENSG00000131931	ENSG00000131931		"""THAP (C2CH-type zinc finger) domain containing"""	20856	protein-coding gene	gene with protein product		609520	"""dystonia 6, torsion (autosomal dominant)"""	DYT6		12575992, 12717420, 19182804	Standard	NM_018105		Approved	FLJ10477, 4833431A01Rik	uc003xpk.3	Q9NVV9	OTTHUMG00000165276	ENST00000254250.3:c.496G>A	8.37:g.42693251C>T	ENSP00000254250:p.Ala166Thr	False	False		Somatic	0				THAP1_ENST00000345117.2_3'UTR	p.A166T	NM_018105.2	NP_060575.1	WXS	Illumina HiSeq	Phase_I	Q9NVV9	THAP1_HUMAN	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)		3	726	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	166					A6NCB6|D3DSY5|H9KV49|Q53FQ1|Q6IA99	Missense_Mutation	SNP	ENST00000254250.3	37	c.496G>A	CCDS6136.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522348	0.44866	2.27E-4	0.0	ENSG00000131931	ENST00000254250	T	0.78126	-1.15	5.52	5.52	0.82312	.	0.172283	0.52532	D	0.000063	T	0.61702	0.2368	L	0.27053	0.805	0.80722	D	1	P	0.39181	0.663	B	0.20184	0.028	T	0.62937	-0.6748	10	0.13108	T	0.6	-24.4747	19.7971	0.96490	0.0:1.0:0.0:0.0	.	166	Q9NVV9	THAP1_HUMAN	T	166	ENSP00000254250:A166T	ENSP00000254250:A166T	A	-	1	0	THAP1	42812408	0.985000	0.35326	0.902000	0.35471	0.978000	0.69477	3.052000	0.49893	2.757000	0.94681	0.585000	0.79938	GCA		0.443	THAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383161.1	0	NM_018105		8:42693251
EIF4G2	1982	broad.mit.edu	37	11	10823915	10823915	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:10823915G>T	ENST00000526148.1	-	12	1574	c.1064C>A	c.(1063-1065)cCg>cAg	p.P355Q	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P355Q|EIF4G2_ENST00000396525.2_Missense_Mutation_p.P355Q|EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P355Q|SNORD97_ENST00000459187.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGGCATGAACGGTCCCTCCAG	0.438																																						ENST00000526148.1		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(1063-1065)cCg>cAg		eukaryotic translation initiation factor 4 gamma, 2							139.0	136.0	137.0					11																	10823915		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10823915G>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1064C>A	11.37:g.10823915G>T	ENSP00000433664:p.Pro355Gln	False	False		Somatic	0				EIF4G2_ENST00000396525.2_Missense_Mutation_p.P355Q|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P355Q|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P355Q	p.P355Q	NM_001172705.1	NP_001166176	WXS	Illumina HiSeq	Phase_I	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	12	1574	-			355						Missense_Mutation	SNP	ENST00000526148.1	37	c.1064C>A	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564900	0.65651	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416	T;T;T;T;T	0.22743	2.27;2.27;2.27;2.25;1.94	5.77	5.77	0.91146	.	0.096982	0.64402	D	0.000001	T	0.22627	0.0546	L	0.36672	1.1	0.35089	D	0.764105	P;P;P	0.43578	0.662;0.532;0.811	B;B;B	0.40134	0.32;0.171;0.119	T	0.02668	-1.1126	9	0.51188	T	0.08	-4.9893	20.3626	0.98863	0.0:0.0:1.0:0.0	.	355;355;428	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	Q	355;355;355;355;428;355	ENSP00000433664:P355Q;ENSP00000433371:P355Q;ENSP00000340281:P355Q;ENSP00000379778:P355Q;ENSP00000431583:P355Q	ENSP00000340281:P355Q	P	-	2	0	EIF4G2	10780491	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.313000	0.72844	2.885000	0.99019	0.655000	0.94253	CCG		0.438	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	0	NM_001418		11:10823915
BTRC	8945	broad.mit.edu	37	10	103292106	103292106	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:103292106C>A	ENST00000370187.3	+	8	1013	c.895C>A	c.(895-897)Cga>Aga	p.R299R	BTRC_ENST00000408038.2_Silent_p.R263R|BTRC_ENST00000393441.4_Silent_p.R258R	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AATTCACTGCCGAAGTGAAAC	0.398																																						ENST00000370187.3		NA																	0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(895-897)Cga>Aga		beta-transducin repeat containing E3 ubiquitin protein ligase							147.0	149.0	148.0					10																	103292106		2203	4300	6503	SO:0001819	synonymous_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103292106C>A	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.895C>A	10.37:g.103292106C>A		False	False		Somatic	0				BTRC_ENST00000393441.4_Silent_p.R258R|BTRC_ENST00000408038.2_Silent_p.R263R	p.R299R	NM_033637.3	NP_378663.1	WXS	Illumina HiSeq	Phase_I	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	8	1013	+		Colorectal(252;0.234)	299					B5MD49|Q5W141|Q5W142|Q9Y213	Silent	SNP	ENST00000370187.3	37	c.895C>A	CCDS7512.1																																																																																				0.398	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	0	NM_033637		10:103292106
NUFIP2	57532	broad.mit.edu	37	17	27614185	27614185	+	Nonsense_Mutation	SNP	G	G	T	rs147846044		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:27614185G>T	ENST00000225388.4	-	2	885	c.827C>A	c.(826-828)tCg>tAg	p.S276*	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	276						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AATGGGCTTCGAACCATCTAC	0.438																																						ENST00000225388.4		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(826-828)tCg>tAg		nuclear fragile X mental retardation protein interacting protein 2							128.0	127.0	127.0					17																	27614185		2203	4300	6503	SO:0001587	stop_gained	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27614185G>T	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.827C>A	17.37:g.27614185G>T	ENSP00000225388:p.Ser276*	False	False		Somatic	0				NUFIP2_ENST00000579665.1_Intron	p.S276*	NM_020772.2	NP_065823.1	WXS	Illumina HiSeq	Phase_I	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	885	-			276					A1L3A6|Q9P2M5	Nonsense_Mutation	SNP	ENST00000225388.4	37	c.827C>A	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211356	0.79240	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	6.17	0.99709	.	0.275258	0.31784	N	0.007073	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-16.4165	10.4929	0.44760	0.0688:0.1344:0.7967:0.0	.	.	.	.	X	276	.	ENSP00000225388:S276X	S	-	2	0	NUFIP2	24638311	1.000000	0.71417	0.985000	0.45067	0.948000	0.59901	3.846000	0.55888	2.941000	0.99782	0.655000	0.94253	TCG		0.438	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	0	NM_020772		17:27614185
AGTPBP1	23287	broad.mit.edu	37	9	88200500	88200500	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:88200500C>A	ENST00000357081.3	-	23	3187	c.3043G>T	c.(3043-3045)Gat>Tat	p.D1015Y	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.D1027Y|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.D975Y|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1015					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CCATGATAATCACAATAAACC	0.313																																						ENST00000357081.3		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(3043-3045)Gat>Tat		ATP/GTP binding protein 1							103.0	92.0	96.0					9																	88200500		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88200500C>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3043G>T	9.37:g.88200500C>A	ENSP00000349592:p.Asp1015Tyr	False	False		Somatic	0				AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.D1027Y|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.D975Y	p.D1015Y			WXS	Illumina HiSeq	Phase_I	Q9UPW5	CBPC1_HUMAN			23	3187	-			1015					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.3043G>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.052361	0.75960	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.16743	2.32;2.32;2.32	5.42	4.51	0.55191	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	H	0.97103	3.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.71437	-0.4593	10	0.87932	D	0	-28.4007	14.5389	0.67980	0.0:0.9278:0.0:0.0722	.	1027;1015;975	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	Y	1015;975;1027	ENSP00000349592:D1015Y;ENSP00000365251:D975Y;ENSP00000365277:D1027Y	ENSP00000349592:D1015Y	D	-	1	0	AGTPBP1	87390320	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.960000	0.70348	2.530000	0.85305	0.591000	0.81541	GAT		0.313	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	0	NM_015239		9:88200500
SI	6476	broad.mit.edu	37	3	164793762	164793762	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:164793762C>A	ENST00000264382.3	-	2	101	c.39G>T	c.(37-39)ctG>ctT	p.L13L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	13					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AAAGGACAATCAGAGAGATTT	0.284										HNSCC(35;0.089)																												ENST00000264382.3		NA																	0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(37-39)ctG>ctT		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						68.0	68.0	68.0					3																	164793762		2203	4293	6496	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164793762C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.39G>T	3.37:g.164793762C>A		True	False	HNSCC(35;0.089)	Somatic	0					p.L13L	NM_001041.3	NP_001032.2	WXS	Illumina HiSeq	Phase_I	P14410	SUIS_HUMAN			2	101	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	13					A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.39G>T	CCDS3196.1																																																																																				0.284	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	0	NM_001041		3:164793762
SLC4A4	8671	broad.mit.edu	37	4	72319302	72319302	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:72319302G>T	ENST00000264485.5	+	12	1530	c.1413G>T	c.(1411-1413)tcG>tcT	p.S471S	SLC4A4_ENST00000351898.6_Silent_p.S471S|SLC4A4_ENST00000512686.1_Silent_p.S427S|SLC4A4_ENST00000425175.1_Silent_p.S471S|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Silent_p.S427S	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	471			S -> L (in pRTA-OA; mistargeting to the apical membrane and altered function). {ECO:0000269|PubMed:15471865, ECO:0000269|PubMed:15713912}.		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)	AAGCTCTTTCGGCAATTCTCT	0.413																																						ENST00000340595.3		NA																	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.(1279-1281)tcG>tcT		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							203.0	202.0	202.0					4																	72319302		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72319302G>T	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.1413G>T	4.37:g.72319302G>T		False	False		Somatic	0				SLC4A4_ENST00000351898.6_Silent_p.S471S|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Silent_p.S427S|SLC4A4_ENST00000264485.5_Silent_p.S471S|SLC4A4_ENST00000425175.1_Silent_p.S471S	p.S427S	NM_003759.3	NP_003750.1	WXS	Illumina HiSeq	Phase_I	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		9	1477	+			471					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.1281G>T	CCDS43236.1																																																																																				0.413	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	0	NM_003759		4:72319302
TBC1D23	55773	broad.mit.edu	37	3	100039700	100039700	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:100039700C>A	ENST00000394144.4	+	18	1910	c.1903C>A	c.(1903-1905)Cga>Aga	p.R635R	TBC1D23_ENST00000475134.1_Silent_p.R498R|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Silent_p.R620R	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	635					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TATACAGTCTCGACAAGCGCT	0.353																																						ENST00000394144.4		NA																	0				breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(1903-1905)Cga>Aga		TBC1 domain family, member 23							91.0	92.0	92.0					3																	100039700		2203	4300	6503	SO:0001819	synonymous_variant	55773					intracellular	Rab GTPase activator activity	g.chr3:100039700C>A	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1903C>A	3.37:g.100039700C>A		False	False		Somatic	0				TBC1D23_ENST00000475134.1_Silent_p.R498R|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Silent_p.R620R	p.R635R	NM_001199198.2	NP_001186127.1	WXS	Illumina HiSeq	Phase_I	Q9NUY8	TBC23_HUMAN			18	1910	+			635					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	ENST00000394144.4	37	c.1903C>A	CCDS56265.1																																																																																				0.353	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	0	NM_018309		3:100039700
CPE	1363	broad.mit.edu	37	4	166418743	166418743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:166418743C>A	ENST00000402744.4	+	9	1692	c.1412C>A	c.(1411-1413)tCa>tAa	p.S471*		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	471					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAAATGATGTCAGAAACTTTA	0.303																																						ENST00000402744.4		NA																	0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1411-1413)tCa>tAa		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						70.0	72.0	71.0					4																	166418743		2201	4295	6496	SO:0001587	stop_gained	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166418743C>A	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.1412C>A	4.37:g.166418743C>A	ENSP00000386104:p.Ser471*	False	False		Somatic	0					p.S471*	NM_001873.2	NP_001864.1	WXS	Illumina HiSeq	Phase_I	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	9	1692	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	471					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Nonsense_Mutation	SNP	ENST00000402744.4	37	c.1412C>A	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	C	39	7.734767	0.98459	.	.	ENSG00000109472	ENST00000402744	.	.	.	6.08	6.08	0.98989	.	0.158173	0.44688	D	0.000421	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7725	20.6647	0.99678	0.0:1.0:0.0:0.0	.	.	.	.	X	471	.	ENSP00000386104:S471X	S	+	2	0	CPE	166638193	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.891000	0.75639	2.890000	0.99128	0.655000	0.94253	TCA		0.303	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	0	NM_001873		4:166418743
PTPRN	5798	broad.mit.edu	37	2	220172205	220172205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:220172205G>A	ENST00000295718.2	-	3	481	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	PTPRN_ENST00000409251.3_Nonsense_Mutation_p.Q81*|PTPRN_ENST00000423636.2_5'UTR	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	81					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGTAAGCGTTGGAGAACTGGG	0.557																																						ENST00000295718.2		NA																	0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(241-243)Caa>Taa		protein tyrosine phosphatase, receptor type, N							74.0	72.0	72.0					2																	220172205		2203	4300	6503	SO:0001587	stop_gained	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220172205G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.241C>T	2.37:g.220172205G>A	ENSP00000295718:p.Gln81*	False	False		Somatic	0				PTPRN_ENST00000423636.2_5'UTR|PTPRN_ENST00000409251.3_Nonsense_Mutation_p.Q81*	p.Q81*	NM_002846.3	NP_002837.1	WXS	Illumina HiSeq	Phase_I	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	3	481	-		Renal(207;0.0474)	81					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Nonsense_Mutation	SNP	ENST00000295718.2	37	c.241C>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613044	0.87258	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000536579;ENST00000440552	.	.	.	5.09	5.09	0.68999	.	0.101357	0.38778	N	0.001570	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.3985	0.74816	0.0:0.0:1.0:0.0	.	.	.	.	X	81;81;81;81;48	.	ENSP00000295718:Q81X	Q	-	1	0	PTPRN	219880449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.229000	0.72294	2.359000	0.80004	0.460000	0.39030	CAA		0.557	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2	0			2:220172205
ARHGAP24	83478	broad.mit.edu	37	4	86852189	86852189	+	Intron	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:86852189C>A	ENST00000395184.1	+	4	857				ARHGAP24_ENST00000503995.1_Intron|ARHGAP24_ENST00000395183.2_Intron|ARHGAP24_ENST00000264343.4_Silent_p.R36R	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24						activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTTTAGTTTTCGGAAAGGTAG	0.378																																						ENST00000264343.4		NA																	0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(106-108)Cgg>Agg		Rho GTPase activating protein 24							57.0	60.0	59.0					4																	86852189		2203	4300	6503	SO:0001627	intron_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86852189C>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.391+7266C>A	4.37:g.86852189C>A		True	False		Somatic	0				ARHGAP24_ENST00000395184.1_Intron|ARHGAP24_ENST00000395183.2_Intron|ARHGAP24_ENST00000503995.1_Intron	p.R36R	NM_031305.2	NP_112595.2	WXS	Illumina HiSeq	Phase_I	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	1	764	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	129			PH.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	c.106C>A	CCDS34025.1																																																																																				0.378	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	0	NM_031305		4:86852189
GAS2L3	283431	broad.mit.edu	37	12	101016096	101016096	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:101016096G>T	ENST00000539410.1	+	8	1078	c.692G>T	c.(691-693)cGa>cTa	p.R231L	GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231L|GAS2L3_ENST00000537247.1_Missense_Mutation_p.R127L|GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	231	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTTCTCATCGATTTTCTATT	0.318																																						ENST00000537247.1		NA																	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(379-381)cGa>cTa		growth arrest-specific 2 like 3							129.0	129.0	129.0					12																	101016096		2203	4299	6502	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101016096G>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.692G>T	12.37:g.101016096G>T	ENSP00000439672:p.Arg231Leu	False	False		Somatic	0				GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231L|GAS2L3_ENST00000539410.1_Missense_Mutation_p.R231L	p.R127L			WXS	Illumina HiSeq	Phase_I	Q86XJ1	GA2L3_HUMAN			9	1334	+			231			CH.		B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.380G>T	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042073	0.75732	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26660	1.73;1.73;1.72;1.73	5.9	5.9	0.94986	Growth-arrest-specific protein 2 domain (4);	0.189964	0.43919	D	0.000502	T	0.41558	0.1164	L	0.31476	0.935	0.35362	D	0.78831	D	0.60575	0.988	D	0.66351	0.943	T	0.44143	-0.9347	10	0.62326	D	0.03	-14.7321	20.2723	0.98479	0.0:0.0:1.0:0.0	.	231	Q86XJ1	GA2L3_HUMAN	L	231;231;127;231	ENSP00000266754:R231L;ENSP00000448955:R231L;ENSP00000442406:R127L;ENSP00000439672:R231L	ENSP00000266754:R231L	R	+	2	0	GAS2L3	99540227	1.000000	0.71417	0.991000	0.47740	0.648000	0.38561	3.905000	0.56333	2.793000	0.96121	0.563000	0.77884	CGA		0.318	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	0	NM_174942		12:101016096
FRMD4A	55691	broad.mit.edu	37	10	13712473	13712473	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:13712473G>T	ENST00000357447.2	-	17	1675	c.1307C>A	c.(1306-1308)cCc>cAc	p.P436H	FRMD4A_ENST00000378503.1_Missense_Mutation_p.P436H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P421H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	436					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCGAACAATGGGTGGTTCCTC	0.502																																						ENST00000357447.2		NA																	0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1306-1308)cCc>cAc		FERM domain containing 4A							169.0	158.0	162.0					10																	13712473		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13712473G>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1307C>A	10.37:g.13712473G>T	ENSP00000350032:p.Pro436His	True	False		Somatic	0				FRMD4A_ENST00000358621.4_Missense_Mutation_p.P421H|FRMD4A_ENST00000378503.1_Missense_Mutation_p.P436H	p.P436H	NM_018027.3	NP_060497.3	WXS	Illumina HiSeq	Phase_I	Q9P2Q2	FRM4A_HUMAN			17	1675	-			436					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1307C>A	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874849	0.91664	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546	D;D;D;D	0.88201	-2.34;-2.35;-2.35;-2.14	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93758	0.7064	10	0.72032	D	0.01	-23.2153	18.8905	0.92399	0.0:0.0:1.0:0.0	.	469;436	Q5T376;Q9P2Q2	.;FRM4A_HUMAN	H	421;436;436;469	ENSP00000351438:P421H;ENSP00000350032:P436H;ENSP00000367764:P436H;ENSP00000264546:P469H	ENSP00000264546:P469H	P	-	2	0	FRMD4A	13752479	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	9.610000	0.98337	2.707000	0.92482	0.655000	0.94253	CCC		0.502	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	0	NM_018027		10:13712473
CCDC7	79741	broad.mit.edu	37	10	32780874	32780874	+	Missense_Mutation	SNP	G	G	T	rs368821033		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:32780874G>T	ENST00000362006.5	+	10	1364	c.821G>T	c.(820-822)cGa>cTa	p.R274L	CCDC7_ENST00000537047.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.R274L|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000489718.1_3'UTR|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000545067.1_Intron	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	274										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				ATGACTAATCGATTTAATGCC	0.249																																						ENST00000362006.5		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(820-822)cGa>cTa		coiled-coil domain containing 7							71.0	80.0	77.0					10																	32780874		2203	4295	6498	SO:0001583	missense	221016							g.chr10:32780874G>T	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.821G>T	10.37:g.32780874G>T	ENSP00000355078:p.Arg274Leu	False	False		Somatic	0				CCDC7_ENST00000277657.6_Missense_Mutation_p.R274L|CCDC7_ENST00000537047.1_3'UTR|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000489718.1_3'UTR|CCDC7_ENST00000539197.1_Intron	p.R274L	NM_145023.4	NP_659460.3	WXS	Illumina HiSeq	Phase_I	Q96M83	CCDC7_HUMAN			10	1364	+		Breast(68;0.000207)|Prostate(175;0.0107)	274					Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	c.821G>T	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633269	0.47049	.	.	ENSG00000216937	ENST00000277657;ENST00000362006	T;T	0.38887	1.11;1.11	4.13	-2.58	0.06228	.	.	.	.	.	T	0.34832	0.0911	L	0.34521	1.04	0.09310	N	1	P	0.46064	0.872	P	0.46685	0.524	T	0.35943	-0.9768	9	0.66056	D	0.02	-5.7463	9.3861	0.38345	0.7177:0.0:0.2823:0.0	.	274	Q96M83	CCDC7_HUMAN	L	274	ENSP00000277657:R274L;ENSP00000355078:R274L	ENSP00000277657:R274L	R	+	2	0	CCDC7	32820880	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.418000	0.07080	-0.510000	0.06523	0.561000	0.74099	CGA		0.249	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	0	NM_145023		10:32780874
ZNF254	9534	broad.mit.edu	37	19	24309885	24309885	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:24309885G>A	ENST00000357002.4	+	4	1198	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF254_ENST00000342944.6_Silent_p.Q276Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	361					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAGTCCTCAACCC	0.393																																						ENST00000357002.4		NA																	0					NA						c.(1081-1083)caG>caA		zinc finger protein 254							57.0	58.0	58.0					19																	24309885		2201	4293	6494	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309885G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1083G>A	19.37:g.24309885G>A		False	False		Somatic	0				ZNF254_ENST00000342944.6_Silent_p.Q276Q	p.Q361Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	WXS	Illumina HiSeq	Phase_I	O75437	ZN254_HUMAN			4	1198	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	361					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1083G>A	CCDS32983.1																																																																																				0.393	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	0	NM_004876		19:24309885
POFUT2	23275	broad.mit.edu	37	21	46687600	46687600	+	Silent	SNP	G	G	T	rs372635250		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:46687600G>T	ENST00000349485.5	-	8	1067	c.1041C>A	c.(1039-1041)ccC>ccA	p.P347P	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_Silent_p.P347P	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	347					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TCACCATCTCGGGTAACAGCT	0.517																																						ENST00000331343.7		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1039-1041)ccC>ccA		protein O-fucosyltransferase 2							174.0	171.0	172.0					21																	46687600		2203	4300	6503	SO:0001819	synonymous_variant	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46687600G>T	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.1041C>A	21.37:g.46687600G>T		True	False		Somatic	0				POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Silent_p.P347P	p.P347P	NM_015227.4	NP_056042.1	WXS	Illumina HiSeq	Phase_I	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	8	1067	-			347					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	c.1041C>A	CCDS13719.1																																																																																				0.517	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	0	NM_015227		21:46687600
KLK13	26085	broad.mit.edu	37	19	51559890	51559890	+	Missense_Mutation	SNP	C	C	A	rs368127123		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:51559890C>A	ENST00000595793.1	-	5	830	c.788G>T	c.(787-789)cGa>cTa	p.R263L	KLK13_ENST00000595547.1_Missense_Mutation_p.R190L|KLK13_ENST00000335422.3_Missense_Mutation_p.R111L	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	263	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)	p.R263L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTCATATTTTCGGATTGTTTC	0.512																																						ENST00000595793.1		NA																	1	Substitution - Missense(1)	p.R263L(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(787-789)cGa>cTa		kallikrein-related peptidase 13							251.0	236.0	241.0					19																	51559890		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51559890C>A		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.788G>T	19.37:g.51559890C>A	ENSP00000470555:p.Arg263Leu	True	False		Somatic	0				KLK13_ENST00000595547.1_Missense_Mutation_p.R190L|KLK13_ENST00000335422.3_Missense_Mutation_p.R111L	p.R263L	NM_015596.1	NP_056411.1	WXS	Illumina HiSeq	Phase_I	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	5	830	-		all_neural(266;0.026)	263			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.788G>T	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111511	0.37242	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.93366	-3.21	3.78	-3.39	0.04868	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	1.340470	0.05170	N	0.499377	D	0.92061	0.7484	L	0.47016	1.485	0.09310	N	1	P;D;P	0.56287	0.678;0.975;0.671	B;P;B	0.50659	0.136;0.647;0.314	D	0.85149	0.0985	10	0.72032	D	0.01	.	8.6349	0.33941	0.0:0.3664:0.0:0.6336	.	111;190;263	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	L	263;111	ENSP00000334079:R111L	ENSP00000156476:R263L	R	-	2	0	KLK13	56251702	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.309000	0.08145	-0.518000	0.06452	-0.781000	0.03364	CGA		0.512	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	0	NM_015596		19:51559890
MNS1	55329	broad.mit.edu	37	15	56735874	56735874	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:56735874G>T	ENST00000260453.3	-	6	1029	c.865C>A	c.(865-867)Caa>Aaa	p.Q289K	TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	289	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TCATTTTCTTGAACTTTTGCC	0.348																																						ENST00000260453.3		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(865-867)Caa>Aaa		meiosis-specific nuclear structural 1							163.0	160.0	161.0					15																	56735874		2192	4291	6483	SO:0001583	missense	55329				meiosis			g.chr15:56735874G>T	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.865C>A	15.37:g.56735874G>T	ENSP00000260453:p.Gln289Lys	False	False		Somatic	0				TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	p.Q289K	NM_018365.2	NP_060835.1	WXS	Illumina HiSeq	Phase_I	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	6	1029	-			289			Glu-rich.		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	37	c.865C>A	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	G	4.351	0.064587	0.08388	.	.	ENSG00000138587	ENST00000260453	T	0.08370	3.1	5.44	5.44	0.79542	.	0.324258	0.33364	N	0.004991	T	0.06600	0.0169	L	0.31065	0.9	0.22305	N	0.999212	B	0.06786	0.001	B	0.13407	0.009	T	0.37753	-0.9692	10	0.05833	T	0.94	-8.4625	14.7812	0.69769	0.0:0.0:0.8554:0.1446	.	289	Q8NEH6	MNS1_HUMAN	K	289	ENSP00000260453:Q289K	ENSP00000260453:Q289K	Q	-	1	0	MNS1	54523166	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	3.786000	0.55431	2.529000	0.85273	0.637000	0.83480	CAA		0.348	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	0	NM_018365		15:56735874
LDHAL6B	92483	broad.mit.edu	37	15	59499329	59499329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:59499329G>T	ENST00000307144.4	+	1	288	c.190G>T	c.(190-192)Gag>Tag	p.E64*	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	64					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						TTTCACTTCCGAGAAGCCCGT	0.532																																						ENST00000307144.4		NA																	0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(190-192)Gag>Tag		lactate dehydrogenase A-like 6B	NADH(DB00157)						119.0	108.0	112.0					15																	59499329		2191	4290	6481	SO:0001587	stop_gained	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499329G>T	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.190G>T	15.37:g.59499329G>T	ENSP00000302393:p.Glu64*	False	False		Somatic	0				MYO1E_ENST00000288235.4_Intron	p.E64*	NM_033195.2	NP_149972.1	WXS	Illumina HiSeq	Phase_I	Q9BYZ2	LDH6B_HUMAN			1	288	+			64					Q6DUY4|Q96LI2	Nonsense_Mutation	SNP	ENST00000307144.4	37	c.190G>T	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960368	0.53400	.	.	ENSG00000171989	ENST00000307144	.	.	.	1.47	1.47	0.22746	.	0.084010	0.46758	U	0.000268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	8.4578	0.32910	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000302393:E64X	E	+	1	0	LDHAL6B	57286621	1.000000	0.71417	0.011000	0.14972	0.016000	0.09150	2.591000	0.46163	0.784000	0.33661	0.305000	0.20034	GAG		0.532	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	0	NM_033195		15:59499329
KCNQ5	56479	broad.mit.edu	37	6	73713655	73713655	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:73713655G>T	ENST00000370398.1	+	2	532	c.423G>T	c.(421-423)ttG>ttT	p.L141F	KCNQ5_ENST00000402622.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L141F|KCNQ5_ENST00000342056.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L141F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L141F	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	141					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTGGTTGCTTGATTTTGTCAG	0.363																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2		NA																	0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(421-423)ttG>ttT		potassium voltage-gated channel, KQT-like subfamily, member 5							211.0	172.0	185.0					6																	73713655		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73713655G>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.423G>T	6.37:g.73713655G>T	ENSP00000359425:p.Leu141Phe	False	False		Somatic	0				KCNQ5_ENST00000370398.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L141F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L141F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L141F	p.L141F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	WXS	Illumina HiSeq	Phase_I	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	2	821	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	141					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.423G>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237974	0.79800	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000002	D	0.98563	0.9520	M	0.73962	2.25	0.50813	D	0.999893	P;D;D;D;D;D	0.89917	0.86;1.0;0.989;0.994;1.0;1.0	P;D;P;D;D;D	0.85130	0.743;0.997;0.824;0.915;0.993;0.994	D	0.99264	1.0891	10	0.62326	D	0.03	.	18.7003	0.91618	0.0:0.0:1.0:0.0	.	141;141;141;141;141;141	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	F	141	ENSP00000345055:L141F;ENSP00000347326:L141F;ENSP00000359425:L141F;ENSP00000359419:L141F;ENSP00000385501:L141F;ENSP00000347853:L141F;ENSP00000384453:L141F;ENSP00000409861:L141F	ENSP00000345055:L141F	L	+	3	2	KCNQ5	73770376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.835000	0.75344	2.769000	0.95229	0.655000	0.94253	TTG		0.363	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	0	NM_019842		6:73713655
RNF14	9604	broad.mit.edu	37	5	141354446	141354446	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:141354446G>T	ENST00000394520.2	+	4	541	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	RNF14_ENST00000394515.3_Nonsense_Mutation_p.E78*|RNF14_ENST00000394519.1_Nonsense_Mutation_p.E78*|RNF14_ENST00000347642.3_Nonsense_Mutation_p.E78*|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394514.2_Intron|RNF14_ENST00000502341.1_Intron|RNF14_ENST00000356143.1_Nonsense_Mutation_p.E78*	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	78	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GCTGAACTTTGAACTGCCACC	0.413																																						ENST00000394520.2		NA																	0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(232-234)Gaa>Taa		ring finger protein 14							181.0	160.0	167.0					5																	141354446		2203	4300	6503	SO:0001587	stop_gained	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141354446G>T	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.232G>T	5.37:g.141354446G>T	ENSP00000378028:p.Glu78*	True	False		Somatic	0				RNF14_ENST00000502341.1_Intron|RNF14_ENST00000356143.1_Nonsense_Mutation_p.E78*|RNF14_ENST00000394514.2_Intron|RNF14_ENST00000394515.3_Nonsense_Mutation_p.E78*|RNF14_ENST00000347642.3_Nonsense_Mutation_p.E78*|RNF14_ENST00000394519.1_Nonsense_Mutation_p.E78*|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA	p.E78*	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	WXS	Illumina HiSeq	Phase_I	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	4	541	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	78			RWD.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Nonsense_Mutation	SNP	ENST00000394520.2	37	c.232G>T	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453940	0.96223	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000513019;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000394515;ENST00000507163;ENST00000394519	.	.	.	5.87	5.87	0.94306	.	0.045006	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	20.2084	0.98285	0.0:0.0:1.0:0.0	.	.	.	.	X	78	.	ENSP00000324956:E78X	E	+	1	0	RNF14	141334630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.795000	0.99099	2.774000	0.95407	0.650000	0.86243	GAA		0.413	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	0	NM_004290		5:141354446
ZRANB1	54764	broad.mit.edu	37	10	126662279	126662279	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:126662279C>A	ENST00000359653.4	+	4	1593	c.1222C>A	c.(1222-1224)Caa>Aaa	p.Q408K		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	408	TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TAGAGACGTTCAAAAAGGTAA	0.328																																						ENST00000359653.4		NA																	0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1222-1224)Caa>Aaa		zinc finger, RAN-binding domain containing 1							122.0	125.0	124.0					10																	126662279		2203	4299	6502	SO:0001583	missense	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126662279C>A	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1222C>A	10.37:g.126662279C>A	ENSP00000352676:p.Gln408Lys	True	False		Somatic	0					p.Q408K	NM_017580.2	NP_060050.2	WXS	Illumina HiSeq	Phase_I	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	4	1593	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	408			TRAF-binding.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	c.1222C>A	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995286	0.74703	.	.	ENSG00000019995	ENST00000359653	T	0.20200	2.09	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.26195	0.0639	M	0.69823	2.125	0.80722	D	1	P	0.43169	0.8	B	0.35899	0.213	T	0.15752	-1.0426	10	0.49607	T	0.09	-25.352	18.3777	0.90440	0.0:1.0:0.0:0.0	.	408	Q9UGI0	ZRAN1_HUMAN	K	408	ENSP00000352676:Q408K	ENSP00000352676:Q408K	Q	+	1	0	ZRANB1	126652269	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.593000	0.67550	2.562000	0.86427	0.650000	0.86243	CAA		0.328	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	0	NM_017580		10:126662279
DMXL2	23312	broad.mit.edu	37	15	51780219	51780219	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:51780219C>A	ENST00000251076.5	-	22	5436	c.5149G>T	c.(5149-5151)Gga>Tga	p.G1717*	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.G1717*|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.G1081*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1717						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CGTTGTTTTCCAAGTAAGGAA	0.348																																						ENST00000251076.5		NA																	0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(5149-5151)Gga>Tga		Dmx-like 2							142.0	152.0	149.0					15																	51780219		2196	4293	6489	SO:0001587	stop_gained	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51780219C>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5149G>T	15.37:g.51780219C>A	ENSP00000251076:p.Gly1717*	False	False		Somatic	0				RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.G1717*|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.G1081*	p.G1717*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	WXS	Illumina HiSeq	Phase_I	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	22	5436	-			1717					B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	ENST00000251076.5	37	c.5149G>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	42	9.303235	0.99130	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5735	0.91145	0.0:1.0:0.0:0.0	.	.	.	.	X	1717;1717;1081	.	ENSP00000251076:G1717X	G	-	1	0	DMXL2	49567511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.675000	0.84002	2.442000	0.82660	0.585000	0.79938	GGA		0.348	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	0	NM_015263		15:51780219
GDI2	2665	broad.mit.edu	37	10	5827938	5827938	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:5827938G>T	ENST00000380191.4	-	5	754	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	GDI2_ENST00000380132.4_Missense_Mutation_p.P159Q|GDI2_ENST00000380181.3_Missense_Mutation_p.P110Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	155					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AAAAGTTCTTGGATCTTTTTC	0.348																																						ENST00000380191.4		NA																	0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(463-465)cCa>cAa		GDP dissociation inhibitor 2							125.0	122.0	123.0					10																	5827938		2203	4300	6503	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5827938G>T	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.464C>A	10.37:g.5827938G>T	ENSP00000369538:p.Pro155Gln	False	False		Somatic	0				GDI2_ENST00000380181.3_Missense_Mutation_p.P110Q|GDI2_ENST00000380132.4_Missense_Mutation_p.P159Q	p.P155Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	WXS	Illumina HiSeq	Phase_I	P50395	GDIB_HUMAN			5	754	-			155					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.464C>A	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396501	0.42512	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000380181;ENST00000456041;ENST00000418688	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.31	5.31	0.75309	.	0.364847	0.34932	N	0.003574	T	0.69278	0.3093	M	0.86420	2.815	0.80722	D	1	B;B;B	0.19331	0.035;0.025;0.008	B;B;B	0.31442	0.117;0.13;0.073	T	0.70572	-0.4835	10	0.66056	D	0.02	-11.3866	18.9459	0.92622	0.0:0.0:1.0:0.0	.	159;110;155	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	Q	155;159;110;145;119	ENSP00000369538:P155Q;ENSP00000369475:P159Q;ENSP00000369528:P110Q;ENSP00000401733:P145Q;ENSP00000394177:P119Q	ENSP00000369475:P159Q	P	-	2	0	GDI2	5867944	1.000000	0.71417	0.149000	0.22428	0.114000	0.19823	9.668000	0.98619	2.653000	0.90120	0.655000	0.94253	CCA		0.348	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	0	NM_001494		10:5827938
TMEM184C	55751	broad.mit.edu	37	4	148545043	148545043	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:148545043C>A	ENST00000296582.3	+	2	756	c.182C>A	c.(181-183)cCt>cAt	p.P61H	TMEM184C_ENST00000508208.1_Missense_Mutation_p.P61H	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	61						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTGACTATTCCTATATCACTG	0.308																																						ENST00000296582.3		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(181-183)cCt>cAt		transmembrane protein 184C							129.0	128.0	129.0					4																	148545043		2202	4300	6502	SO:0001583	missense	55751					integral to membrane		g.chr4:148545043C>A	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.182C>A	4.37:g.148545043C>A	ENSP00000296582:p.Pro61His	False	False		Somatic	0				TMEM184C_ENST00000508208.1_Missense_Mutation_p.P61H	p.P61H	NM_018241.2	NP_060711.2	WXS	Illumina HiSeq	Phase_I	Q9NVA4	T184C_HUMAN			2	756	+			61					D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	c.182C>A	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780655	0.90195	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.41758	0.99;0.99	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.42464	-0.9450	10	0.15499	T	0.54	-16.4458	19.5645	0.95388	0.0:1.0:0.0:0.0	.	61	Q9NVA4	T184C_HUMAN	H	61	ENSP00000296582:P61H;ENSP00000425940:P61H	ENSP00000296582:P61H	P	+	2	0	TMEM184C	148764493	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.776000	0.85560	2.695000	0.91970	0.557000	0.71058	CCT		0.308	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	0	NM_018241		4:148545043
ACOT4	122970	broad.mit.edu	37	14	74060538	74060538	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:74060538C>A	ENST00000326303.4	+	2	844	c.590C>A	c.(589-591)cCc>cAc	p.P197H		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	197					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GAAGATCTCCCCAATAACATG	0.468																																						ENST00000326303.4		NA																	0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(589-591)cCc>cAc		acyl-CoA thioesterase 4							158.0	148.0	151.0					14																	74060538		2203	4300	6503	SO:0001583	missense	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74060538C>A	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.590C>A	14.37:g.74060538C>A	ENSP00000323071:p.Pro197His	True	False		Somatic	0					p.P197H	NM_152331.3	NP_689544.3	WXS	Illumina HiSeq	Phase_I	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	2	844	+			197					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	c.590C>A	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295226	0.60086	.	.	ENSG00000177465	ENST00000326303	T	0.50277	0.75	5.15	5.15	0.70609	.	0.053368	0.85682	D	0.000000	T	0.76564	0.4005	H	0.95043	3.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.83418	0.0031	10	0.87932	D	0	-8.5859	13.022	0.58794	0.0:0.9195:0.0:0.0805	.	197	Q8N9L9	ACOT4_HUMAN	H	197	ENSP00000323071:P197H	ENSP00000323071:P197H	P	+	2	0	ACOT4	73130291	0.997000	0.39634	0.887000	0.34795	0.487000	0.33371	4.982000	0.63825	2.394000	0.81467	0.491000	0.48974	CCC		0.468	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	0	NM_152331		14:74060538
BAZ1B	9031	broad.mit.edu	37	7	72891240	72891240	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:72891240G>T	ENST00000339594.4	-	7	2889	c.2551C>A	c.(2551-2553)Caa>Aaa	p.Q851K	BAZ1B_ENST00000404251.1_Missense_Mutation_p.Q851K	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	851					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTTAGCTTGAATGGCAAGC	0.393																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4		NA																	0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2551-2553)Caa>Aaa		bromodomain adjacent to zinc finger domain, 1B							184.0	180.0	181.0					7																	72891240		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72891240G>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2551C>A	7.37:g.72891240G>T	ENSP00000342434:p.Gln851Lys	False	False		Somatic	0				BAZ1B_ENST00000404251.1_Missense_Mutation_p.Q851K	p.Q851K	NM_032408.3	NP_115784.1	WXS	Illumina HiSeq	Phase_I	Q9UIG0	BAZ1B_HUMAN			7	2889	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	851					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.2551C>A	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052651	0.55218	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59364	0.27;0.27	5.7	4.8	0.61643	.	0.050445	0.85682	D	0.000000	T	0.50616	0.1626	L	0.52759	1.655	0.46241	D	0.99894	B	0.22800	0.075	B	0.21151	0.033	T	0.44421	-0.9329	10	0.15952	T	0.53	-20.585	14.9793	0.71301	0.0:0.0:0.8563:0.1437	.	851	Q9UIG0	BAZ1B_HUMAN	K	851	ENSP00000342434:Q851K;ENSP00000385442:Q851K	ENSP00000342434:Q851K	Q	-	1	0	BAZ1B	72529176	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.262000	0.95591	1.379000	0.46325	0.491000	0.48974	CAA		0.393	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	0	NM_032408		7:72891240
SYNM	23336	broad.mit.edu	37	15	99669709	99669709	+	Missense_Mutation	SNP	C	C	A	rs569686388		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:99669709C>A	ENST00000560674.1	+	4	755	c.286C>A	c.(286-288)Cgt>Agt	p.R96S	SYNM_ENST00000336292.6_Missense_Mutation_p.R381S|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Missense_Mutation_p.R381S|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	382	Coil 1B.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTCAGGGCACCGTGGATCTCA	0.488																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(1141-1143)Cgt>Agt		synemin, intermediate filament protein							175.0	178.0	177.0					15																	99669709		1942	4137	6079	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99669709C>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.286C>A	15.37:g.99669709C>A	ENSP00000453040:p.Arg96Ser	False	False		Somatic	0				SYNM_ENST00000328642.7_Missense_Mutation_p.R381S|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.R96S|SYNM_ENST00000561323.1_3'UTR	p.R381S	NM_145728.2	NP_663780.2	WXS	Illumina HiSeq	Phase_I	O15061	SYNEM_HUMAN			5	1261	+			382			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.1141C>A		.	.	.	.	.	.	.	.	.	.	C	7.619	0.676397	0.14841	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.82255	-1.56;-1.59	4.65	-1.51	0.08664	.	.	.	.	.	T	0.66436	0.2789	.	.	.	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.002	T	0.48714	-0.9011	8	0.22109	T	0.4	.	5.6352	0.17532	0.0:0.276:0.168:0.556	.	382;381	O15061;C9JIE4	SYNEM_HUMAN;.	S	381	ENSP00000336775:R381S;ENSP00000330469:R381S	ENSP00000330469:R381S	R	+	1	0	SYNM	97487232	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.153000	0.10144	-0.145000	0.11294	0.585000	0.79938	CGT		0.488	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	0	NM_145728		15:99669709
RFX4	5992	broad.mit.edu	37	12	107103179	107103179	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:107103179C>A	ENST00000392842.1	+	9	1319	c.905C>A	c.(904-906)cCa>cAa	p.P302Q	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.P311Q|RFX4_ENST00000229387.5_Missense_Mutation_p.P208Q	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	302					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CACGACCTCCCAGAAAACTTG	0.398																																						ENST00000392842.1		NA																	0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(904-906)cCa>cAa		regulatory factor X, 4 (influences HLA class II expression)							88.0	78.0	81.0					12																	107103179		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107103179C>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.905C>A	12.37:g.107103179C>A	ENSP00000376585:p.Pro302Gln	True	False		Somatic	0				RFX4_ENST00000229387.5_Missense_Mutation_p.P208Q|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.P311Q	p.P302Q	NM_213594.2	NP_998759.1	WXS	Illumina HiSeq	Phase_I	Q33E94	RFX4_HUMAN			9	1319	+			302					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.905C>A	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310682	0.95629	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	T;T;D;T	0.91464	-0.74;-0.74;-2.85;0.01	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.95544	0.8552	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.91635	0.999;0.996;0.996;0.987	D	0.95640	0.8697	10	0.87932	D	0	-10.1755	19.5955	0.95536	0.0:1.0:0.0:0.0	.	208;311;311;302	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	Q	302;311;311;247;208	ENSP00000376585:P302Q;ENSP00000350552:P311Q;ENSP00000448694:P247Q;ENSP00000229387:P208Q	ENSP00000229387:P208Q	P	+	2	0	RFX4	105627309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.626000	0.88956	0.650000	0.86243	CCA		0.398	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	0	NM_032491		12:107103179
GEN1	348654	broad.mit.edu	37	2	17959283	17959283	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:17959283G>T	ENST00000381254.2	+	12	1431	c.1217G>T	c.(1216-1218)cGa>cTa	p.R406L	GEN1_ENST00000317402.7_Missense_Mutation_p.R406L|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	406					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTAAGACTCGAATCAGAAAT	0.274								Homologous recombination																														ENST00000381254.2		NA																	0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1216-1218)cGa>cTa	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							79.0	86.0	84.0					2																	17959283		2199	4269	6468	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17959283G>T	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1217G>T	2.37:g.17959283G>T	ENSP00000370653:p.Arg406Leu	False	False		Somatic	0				GEN1_ENST00000317402.7_Missense_Mutation_p.R406L|SMC6_ENST00000402989.1_Intron	p.R406L	NM_001130009.1	NP_001123481.1	WXS	Illumina HiSeq	Phase_I	Q17RS7	GEN_HUMAN			12	1431	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		406					Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.1217G>T	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449211	0.84101	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	T;T;T	0.44083	0.93;0.93;0.93	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000008	T	0.66723	0.2818	M	0.76002	2.32	0.50467	D	0.999871	D	0.89917	1.0	D	0.85130	0.997	T	0.70238	-0.4927	10	0.87932	D	0	-14.2737	18.7563	0.91833	0.0:0.0:1.0:0.0	.	406	Q17RS7	GEN_HUMAN	L	406;406;177;43	ENSP00000318977:R406L;ENSP00000370653:R406L;ENSP00000431542:R177L	ENSP00000318977:R406L	R	+	2	0	GEN1	17822764	1.000000	0.71417	0.925000	0.36789	0.894000	0.52154	4.945000	0.63568	2.601000	0.87937	0.655000	0.94253	CGA		0.274	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	0	NM_182625		2:17959283
TSHZ3	57616	broad.mit.edu	37	19	31769737	31769737	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:31769737C>A	ENST00000240587.4	-	2	1289	c.962G>T	c.(961-963)cGg>cTg	p.R321L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	321					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGCTTTCTTCCGAGTGGCAGG	0.527																																						ENST00000240587.4		NA																	0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(961-963)cGg>cTg		teashirt zinc finger homeobox 3							111.0	114.0	113.0					19																	31769737		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769737C>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.962G>T	19.37:g.31769737C>A	ENSP00000240587:p.Arg321Leu	False	False		Somatic	0					p.R321L	NM_020856.2	NP_065907.2	WXS	Illumina HiSeq	Phase_I	Q63HK5	TSH3_HUMAN			2	1289	-	Esophageal squamous(110;0.226)		321					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.962G>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817102	0.50633	.	.	ENSG00000121297	ENST00000240587	T	0.12569	2.67	5.33	5.33	0.75918	.	0.120599	0.52532	D	0.000061	T	0.16171	0.0389	L	0.40543	1.245	0.58432	D	0.999998	P	0.42757	0.789	B	0.40101	0.319	T	0.01195	-1.1422	10	0.62326	D	0.03	-26.965	19.0278	0.92939	0.0:1.0:0.0:0.0	.	321	Q63HK5	TSH3_HUMAN	L	321	ENSP00000240587:R321L	ENSP00000240587:R321L	R	-	2	0	TSHZ3	36461577	1.000000	0.71417	0.967000	0.41034	0.394000	0.30568	7.487000	0.81328	2.479000	0.83701	0.563000	0.77884	CGG		0.527	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	0	NM_020856		19:31769737
DNAJB14	79982	broad.mit.edu	37	4	100851701	100851701	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:100851701C>A	ENST00000442697.2	-	2	365	c.211G>T	c.(211-213)Gat>Tat	p.D71Y	DNAJB14_ENST00000471738.1_5'UTR	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	71						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTGCTTTGATCGCCACTACCT	0.428																																						ENST00000442697.2		NA																	0				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(211-213)Gat>Tat		DnaJ (Hsp40) homolog, subfamily B, member 14							271.0	240.0	250.0					4																	100851701		2203	4300	6503	SO:0001583	missense	79982				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr4:100851701C>A	BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"""Heat shock proteins / DNAJ (HSP40)"""	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.211G>T	4.37:g.100851701C>A	ENSP00000404381:p.Asp71Tyr	False	False		Somatic	0				DNAJB14_ENST00000471738.1_5'UTR	p.D71Y	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	WXS	Illumina HiSeq	Phase_I	Q8TBM8	DJB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)	2	365	-			71					Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	ENST00000442697.2	37	c.211G>T	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503702	0.44558	.	.	ENSG00000164031	ENST00000442697	T	0.64618	-0.11	5.7	5.7	0.88788	.	0.212421	0.39020	N	0.001489	T	0.56217	0.1970	L	0.36672	1.1	0.23243	N	0.998052	B	0.12630	0.006	B	0.10450	0.005	T	0.53056	-0.8492	10	0.62326	D	0.03	.	18.0119	0.89226	0.0:1.0:0.0:0.0	.	71	Q8TBM8	DJB14_HUMAN	Y	71	ENSP00000404381:D71Y	ENSP00000404381:D71Y	D	-	1	0	DNAJB14	101070724	0.983000	0.35010	0.037000	0.18230	0.890000	0.51754	2.588000	0.46137	2.675000	0.91044	0.655000	0.94253	GAT		0.428	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	0	NM_001031723.2		4:100851701
PCDH18	54510	broad.mit.edu	37	4	138451498	138451498	+	Missense_Mutation	SNP	C	C	T	rs200753356	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:138451498C>T	ENST00000344876.4	-	1	2131	c.1745G>A	c.(1744-1746)cGt>cAt	p.R582H	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R582H(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGTATTATTACGCAATGCAGG	0.463													C|||	4	0.000798722	0.0	0.0029	5008	,	,		22925	0.0		0.0	False		,,,				2504	0.002					ENST00000344876.4		NA																	2	Substitution - Missense(2)	p.R582H(2)	breast(1)|pancreas(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1744-1746)cGt>cAt		protocadherin 18		C	HIS/ARG	0,4406		0,0,2203	207.0	193.0	197.0		1745	4.1	0.1	4		197	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PCDH18	NM_019035.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	582/1136	138451498	1,13005	2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451498C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1745G>A	4.37:g.138451498C>T	ENSP00000355082:p.Arg582His	False	False		Somatic	0				PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000510305.1_Intron	p.R582H	NM_019035.3	NP_061908.1	WXS	Illumina HiSeq	Phase_I	Q9HCL0	PCD18_HUMAN			1	2131	-	all_hematologic(180;0.24)		582			Cadherin 6.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1745G>A	CCDS34064.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	3.828	-0.036444	0.07497	0.0	1.16E-4	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55413	0.61;0.62;0.52	5.93	4.05	0.47172	Cadherin (2);Cadherin-like (1);	0.321942	0.22435	N	0.060092	T	0.29093	0.0723	N	0.05199	-0.095	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.04752	-1.0929	10	0.42905	T	0.14	.	7.9972	0.30275	0.0:0.5295:0.0:0.4705	.	362;582;582	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	H	582;582;362	ENSP00000355082:R582H;ENSP00000390688:R582H;ENSP00000425903:R362H	ENSP00000355082:R582H	R	-	2	0	PCDH18	138670948	1.000000	0.71417	0.067000	0.19924	0.245000	0.25701	1.744000	0.38268	0.679000	0.31345	0.563000	0.77884	CGT		0.463	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	0	NM_019035		4:138451498
FAM13B	51306	broad.mit.edu	37	5	137278825	137278825	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:137278825G>T	ENST00000033079.3	-	20	2806	c.2355C>A	c.(2353-2355)atC>atA	p.I785I	FAM13B_ENST00000420893.2_Silent_p.I757I|FAM13B_ENST00000425075.2_Silent_p.I661I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	785					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						GGATTACCTTGATTTCTTCAA	0.363																																						ENST00000033079.3		NA																	0				endometrium(4)|kidney(2)|lung(5)	11						c.(2353-2355)atC>atA		family with sequence similarity 13, member B							95.0	97.0	96.0					5																	137278825		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137278825G>T	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2355C>A	5.37:g.137278825G>T		False	False		Somatic	0				FAM13B_ENST00000420893.2_Silent_p.I757I|FAM13B_ENST00000425075.2_Silent_p.I661I	p.I785I	NM_016603.2	NP_057687.2	WXS	Illumina HiSeq	Phase_I	Q9NYF5	FA13B_HUMAN			20	2806	-			785					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	ENST00000033079.3	37	c.2355C>A	CCDS4195.1																																																																																				0.363	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1	0			5:137278825
EIF4G3	8672	broad.mit.edu	37	1	21180069	21180069	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:21180069G>T	ENST00000264211.8	-	21	3561	c.3367C>A	c.(3367-3369)Cga>Aga	p.R1123R	EIF4G3_ENST00000602326.1_Silent_p.R1129R|EIF4G3_ENST00000374937.3_Silent_p.R1129R|EIF4G3_ENST00000374935.3_Silent_p.R843R|EIF4G3_ENST00000400422.1_Silent_p.R1123R|EIF4G3_ENST00000536266.1_Silent_p.R727R|EIF4G3_ENST00000537738.1_Silent_p.R613R	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1123					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	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)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AAGGTCCTTCGGGAATCAAAC	0.507																																						ENST00000602326.1		NA																	0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(3385-3387)Cga>Aga		eukaryotic translation initiation factor 4 gamma, 3							112.0	100.0	104.0					1																	21180069		2203	4300	6503	SO:0001819	synonymous_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21180069G>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3367C>A	1.37:g.21180069G>T		True	False		Somatic	0				EIF4G3_ENST00000374935.3_Silent_p.R843R|EIF4G3_ENST00000264211.8_Silent_p.R1123R|EIF4G3_ENST00000536266.1_Silent_p.R727R|EIF4G3_ENST00000537738.1_Silent_p.R613R|EIF4G3_ENST00000374937.3_Silent_p.R1129R|EIF4G3_ENST00000400422.1_Silent_p.R1123R	p.R1129R	NM_001198802.1	NP_001185731.1	WXS	Illumina HiSeq	Phase_I	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	25	3968	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1123					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	c.3385C>A	CCDS214.1																																																																																				0.507	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	0	NM_003760		1:21180069
OCA2	4948	broad.mit.edu	37	15	28263683	28263683	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:28263683C>T	ENST00000354638.3	-	7	822	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	OCA2_ENST00000382996.2_Missense_Mutation_p.V223M|OCA2_ENST00000353809.5_Missense_Mutation_p.V223M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	223					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTGGAGTCCACGTGGCTGCTA	0.652									Oculocutaneous Albinism																													ENST00000354638.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(667-669)Gtg>Atg		oculocutaneous albinism II							28.0	24.0	26.0					15																	28263683		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28263683C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.667G>A	15.37:g.28263683C>T	ENSP00000346659:p.Val223Met	False	False		Somatic	0				OCA2_ENST00000382996.2_Missense_Mutation_p.V223M|OCA2_ENST00000353809.5_Missense_Mutation_p.V223M	p.V223M	NM_000275.2	NP_000266.2	WXS	Illumina HiSeq	Phase_I	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	7	822	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	223					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.667G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	4.620	0.115289	0.08831	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000431101	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.54	-10.1	0.00402	.	2.689910	0.01503	N	0.017593	T	0.31857	0.0810	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.005;0.007	B;B	0.15484	0.013;0.006	T	0.27054	-1.0085	10	0.33940	T	0.23	4.2318	0.9888	0.01452	0.1922:0.1624:0.2845:0.3609	.	223;223	Q04671-2;Q04671	.;P_HUMAN	M	223	ENSP00000346659:V223M;ENSP00000261276:V223M;ENSP00000372457:V223M;ENSP00000415431:V223M	ENSP00000261276:V223M	V	-	1	0	OCA2	25937278	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.018000	0.03626	-2.789000	0.00357	-0.794000	0.03295	GTG		0.652	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	0	NM_000275		15:28263683
SLC30A7	148867	broad.mit.edu	37	1	101387303	101387303	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:101387303G>T	ENST00000370112.4	+	8	935	c.748G>T	c.(748-750)Ggt>Tgt	p.G250C	SLC30A7_ENST00000357650.4_Missense_Mutation_p.G250C	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	250					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TGGAAGTATTGGTGTAATTGC	0.303																																					NSCLC(91;473 1491 3102 16827 21633)	ENST00000370112.4		NA																	0				endometrium(3)|large_intestine(2)|lung(10)	15						c.(748-750)Ggt>Tgt		solute carrier family 30 (zinc transporter), member 7							169.0	159.0	163.0					1																	101387303		2203	4300	6503	SO:0001583	missense	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101387303G>T	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.748G>T	1.37:g.101387303G>T	ENSP00000359130:p.Gly250Cys	False	False		Somatic	0				SLC30A7_ENST00000357650.4_Missense_Mutation_p.G250C	p.G250C	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	WXS	Illumina HiSeq	Phase_I	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	8	935	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	250					B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	37	c.748G>T	CCDS776.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471709	0.84533	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.67865	-0.29;-0.29	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90939	0.4796	10	0.66056	D	0.02	-8.6001	19.3501	0.94379	0.0:0.0:1.0:0.0	.	250	Q8NEW0	ZNT7_HUMAN	C	250	ENSP00000359130:G250C;ENSP00000350278:G250C	ENSP00000350278:G250C	G	+	1	0	SLC30A7	101159891	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	9.254000	0.95512	2.639000	0.89480	0.655000	0.94253	GGT		0.303	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	0	NM_133496		1:101387303
BARHL1	56751	broad.mit.edu	37	9	135462791	135462791	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:135462791C>T	ENST00000263610.2	+	2	1155	c.542C>T	c.(541-543)gCg>gTg	p.A181V	BARHL1_ENST00000542090.1_Missense_Mutation_p.A181V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	181					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CCACGCAAGGCGCGCACGGCC	0.677																																						ENST00000263610.2		NA																	0				cervix(1)|large_intestine(2)|lung(2)|skin(3)	8						c.(541-543)gCg>gTg		BarH-like homeobox 1							24.0	20.0	21.0					9																	135462791		2198	4299	6497	SO:0001583	missense	56751					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:135462791C>T	AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.542C>T	9.37:g.135462791C>T	ENSP00000263610:p.Ala181Val	True	False		Somatic	0				BARHL1_ENST00000542090.1_Missense_Mutation_p.A181V	p.A181V	NM_020064.3	NP_064448.1	WXS	Illumina HiSeq	Phase_I	Q9BZE3	BARH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)	2	1155	+			181					Q5T6V2|Q9NY88	Missense_Mutation	SNP	ENST00000263610.2	37	c.542C>T	CCDS6950.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831568	0.91036	.	.	ENSG00000125492	ENST00000263610;ENST00000542090	D;D	0.96265	-3.96;-3.96	4.9	4.9	0.64082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93331	0.7874	N	0.25094	0.71	0.80722	D	1	P	0.39060	0.657	B	0.41723	0.365	D	0.94391	0.7614	10	0.87932	D	0	.	15.5939	0.76562	0.0:1.0:0.0:0.0	.	181	Q9BZE3	BARH1_HUMAN	V	181	ENSP00000263610:A181V;ENSP00000444704:A181V	ENSP00000263610:A181V	A	+	2	0	BARHL1	134452612	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.811000	0.86092	2.269000	0.75478	0.555000	0.69702	GCG		0.677	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2	0			9:135462791
MACF1	23499	broad.mit.edu	37	1	39852861	39852861	+	Missense_Mutation	SNP	G	G	T	rs569180777	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:39852861G>T	ENST00000372915.3	+	57	14449	c.14362G>T	c.(14362-14364)Gat>Tat	p.D4788Y	MACF1_ENST00000567887.1_Missense_Mutation_p.D4820Y|MACF1_ENST00000317713.7_Missense_Mutation_p.D2721Y|MACF1_ENST00000361689.2_Missense_Mutation_p.D2721Y|MACF1_ENST00000289893.4_Missense_Mutation_p.D3223Y|MACF1_ENST00000564288.1_Missense_Mutation_p.D4783Y|MACF1_ENST00000545844.1_Missense_Mutation_p.D2721Y|MACF1_ENST00000539005.1_Missense_Mutation_p.D2700Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4788					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATTTCAGCCGATCGCATTAA	0.438																																						ENST00000564288.1		NA																	0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14347-14349)Gat>Tat		microtubule-actin crosslinking factor 1							103.0	116.0	111.0					1																	39852861		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39852861G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14362G>T	1.37:g.39852861G>T	ENSP00000362006:p.Asp4788Tyr	False	False		Somatic	0				MACF1_ENST00000372915.3_Missense_Mutation_p.D4788Y|MACF1_ENST00000317713.7_Missense_Mutation_p.D2721Y|MACF1_ENST00000361689.2_Missense_Mutation_p.D2721Y|MACF1_ENST00000539005.1_Missense_Mutation_p.D2700Y|MACF1_ENST00000567887.1_Missense_Mutation_p.D4820Y|MACF1_ENST00000545844.1_Missense_Mutation_p.D2721Y|MACF1_ENST00000289893.4_Missense_Mutation_p.D3223Y	p.D4783Y			WXS	Illumina HiSeq	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	15124	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4788					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14347G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.07|17.07	3.293902|3.293902	0.60086|0.60086	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.35973|.	1.28;1.28;1.28;1.28;1.28;1.28|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.70842|0.70842	0.3270|0.3270	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D;P;P|.	0.89917|.	1.0;0.748;0.701|.	D;B;P|.	0.97110|.	1.0;0.362;0.481|.	T|T	0.64110|0.64110	-0.6484|-0.6484	10|5	0.59425|.	D|.	0.04|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4788;2721;2665|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	Y|L	2721;4788;2721;2721;2700;3223|1833	ENSP00000439537:D2721Y;ENSP00000362006:D4788Y;ENSP00000354573:D2721Y;ENSP00000313438:D2721Y;ENSP00000444364:D2700Y;ENSP00000289893:D3223Y|.	ENSP00000289893:D3223Y|.	D|R	+|+	1|2	0|0	MACF1|MACF1	39625448|39625448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	5.679000|5.679000	0.68160|0.68160	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	NM_033044		1:39852861
KLHL8	57563	broad.mit.edu	37	4	88084792	88084792	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:88084792C>A	ENST00000273963.5	-	10	2083	c.1742G>T	c.(1741-1743)tGg>tTg	p.W581L	KLHL8_ENST00000512111.1_Missense_Mutation_p.W581L|KLHL8_ENST00000545252.1_Missense_Mutation_p.W230L|KLHL8_ENST00000498875.2_Missense_Mutation_p.W505L|KLHL8_ENST00000425278.2_Missense_Mutation_p.W398L	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	581					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AACAAGCTCCCACCTGAAAAG	0.398																																						ENST00000273963.5		NA																	0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1741-1743)tGg>tTg		kelch-like family member 8							85.0	80.0	82.0					4																	88084792		2203	4300	6503	SO:0001583	missense	57563							g.chr4:88084792C>A	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1742G>T	4.37:g.88084792C>A	ENSP00000273963:p.Trp581Leu	True	False		Somatic	0				KLHL8_ENST00000512111.1_Missense_Mutation_p.W581L|KLHL8_ENST00000425278.2_Missense_Mutation_p.W398L|KLHL8_ENST00000498875.2_Missense_Mutation_p.W505L|KLHL8_ENST00000545252.1_Missense_Mutation_p.W230L	p.W581L	NM_020803.3	NP_065854.3	WXS	Illumina HiSeq	Phase_I	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	10	2083	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	581					Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	37	c.1742G>T	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081410	0.94050	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	5.7	5.7	0.88788	Galactose oxidase, beta-propeller (1);	0.061501	0.64402	D	0.000001	D	0.98899	0.9627	H	0.98178	4.165	0.80722	D	1	P;D;D	0.65815	0.896;0.986;0.995	P;P;D	0.67548	0.673;0.907;0.952	D	0.99437	1.0937	10	0.87932	D	0	.	18.0017	0.89199	0.0:1.0:0.0:0.0	.	398;505;581	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	L	581;505;398;230;581	ENSP00000273963:W581L;ENSP00000426451:W505L;ENSP00000408854:W398L;ENSP00000439514:W230L;ENSP00000424131:W581L	ENSP00000273963:W581L	W	-	2	0	KLHL8	88303816	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.476000	0.81055	2.693000	0.91896	0.467000	0.42956	TGG		0.398	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1	0			4:88084792
XRN2	22803	broad.mit.edu	37	20	21327079	21327079	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:21327079G>T	ENST00000377191.3	+	17	1651	c.1556G>T	c.(1555-1557)cGg>cTg	p.R519L	XRN2_ENST00000430571.2_Missense_Mutation_p.R443L|XRN2_ENST00000539513.1_Missense_Mutation_p.R465L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	519					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGGAAGCAGCGGTACTACAAG	0.438																																						ENST00000377191.3		NA																	0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(1555-1557)cGg>cTg		5'-3' exoribonuclease 2							163.0	158.0	159.0					20																	21327079		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21327079G>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1556G>T	20.37:g.21327079G>T	ENSP00000366396:p.Arg519Leu	False	False		Somatic	0				XRN2_ENST00000430571.2_Missense_Mutation_p.R443L|XRN2_ENST00000539513.1_Missense_Mutation_p.R465L	p.R519L	NM_012255.3	NP_036387.2	WXS	Illumina HiSeq	Phase_I	Q9H0D6	XRN2_HUMAN			17	1651	+			519					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.1556G>T	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	35	5.471937	0.96274	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.24908	1.83;1.83;1.83	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64778	-0.6327	10	0.87932	D	0	-12.6741	20.3495	0.98807	0.0:0.0:1.0:0.0	.	519	Q9H0D6	XRN2_HUMAN	L	519;443;465	ENSP00000366396:R519L;ENSP00000413548:R443L;ENSP00000441113:R465L	ENSP00000366396:R519L	R	+	2	0	XRN2	21275079	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	9.444000	0.97578	2.814000	0.96858	0.591000	0.81541	CGG		0.438	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	0	NM_012255		20:21327079
PIKFYVE	200576	broad.mit.edu	37	2	209216171	209216171	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:209216171C>A	ENST00000264380.4	+	38	5865	c.5707C>A	c.(5707-5709)Caa>Aaa	p.Q1903K		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1903	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AAATGCTGTTCAACAAAAGGT	0.348																																						ENST00000264380.4		NA																	0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(5707-5709)Caa>Aaa		phosphoinositide kinase, FYVE finger containing							142.0	150.0	148.0					2																	209216171		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209216171C>A	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5707C>A	2.37:g.209216171C>A	ENSP00000264380:p.Gln1903Lys	False	False		Somatic	0					p.Q1903K	NM_015040.3	NP_055855.2	WXS	Illumina HiSeq	Phase_I	Q9Y2I7	FYV1_HUMAN			38	5865	+			1903			Catalytic.|PIPK.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.5707C>A	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270734	0.59540	.	.	ENSG00000115020	ENST00000264380	T	0.34472	1.36	6.06	6.06	0.98353	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.051349	0.85682	D	0.000000	T	0.24431	0.0592	N	0.11201	0.11	0.80722	D	1	P	0.44521	0.837	B	0.40066	0.318	T	0.03795	-1.1003	10	0.18276	T	0.48	-15.0232	20.6282	0.99521	0.0:1.0:0.0:0.0	.	1903	Q9Y2I7	FYV1_HUMAN	K	1903	ENSP00000264380:Q1903K	ENSP00000264380:Q1903K	Q	+	1	0	PIKFYVE	208924416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.614000	0.67695	2.871000	0.98454	0.655000	0.94253	CAA		0.348	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	0	NM_015040		2:209216171
STX2	2054	broad.mit.edu	37	12	131297527	131297527	+	Silent	SNP	C	C	A	rs372307871		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:131297527C>A	ENST00000392373.2	-	4	349	c.255G>T	c.(253-255)gcG>gcT	p.A85A	RP11-989F5.3_ENST00000542821.1_lincRNA|STX2_ENST00000261653.6_Silent_p.A85A|RP11-989F5.1_ENST00000546264.1_lincRNA|snoU13_ENST00000459050.1_RNA	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	85					acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GAATTTTATTCGCAGTTTTCT	0.249																																						ENST00000261653.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16						c.(253-255)gcG>gcT		syntaxin 2							97.0	100.0	99.0					12																	131297527		2202	4296	6498	SO:0001819	synonymous_variant	2054				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	g.chr12:131297527C>A	D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.255G>T	12.37:g.131297527C>A		False	False		Somatic	0				STX2_ENST00000392373.2_Silent_p.A85A	p.A85A	NM_001980.3	NP_001971.2	WXS	Illumina HiSeq	Phase_I	P32856	STX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)	4	421	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		85					Q86VW8	Silent	SNP	ENST00000392373.2	37	c.255G>T	CCDS9270.1																																																																																				0.249	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2	0	NM_194356		12:131297527
NEB	4703	broad.mit.edu	37	2	152484296	152484296	+	Missense_Mutation	SNP	C	C	A	rs201965465		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:152484296C>A	ENST00000172853.10	-	65	9302	c.9155G>T	c.(9154-9156)cGg>cTg	p.R3052L	NEB_ENST00000604864.1_Missense_Mutation_p.R3295L|NEB_ENST00000397345.3_Missense_Mutation_p.R3295L|NEB_ENST00000427231.2_Missense_Mutation_p.R3295L|NEB_ENST00000603639.1_Missense_Mutation_p.R3295L|NEB_ENST00000409198.1_Missense_Mutation_p.R3052L			P20929	NEBU_HUMAN	nebulin	3052					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCAATGTTCCGGGCTCCAAT	0.438																																						ENST00000397345.3		NA																	0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(9883-9885)cGg>cTg		nebulin							243.0	228.0	233.0					2																	152484296		1901	4118	6019	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152484296C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9155G>T	2.37:g.152484296C>A	ENSP00000172853:p.Arg3052Leu	True	False		Somatic	0				NEB_ENST00000427231.2_Missense_Mutation_p.R3295L|NEB_ENST00000603639.1_Missense_Mutation_p.R3295L|NEB_ENST00000409198.1_Missense_Mutation_p.R3052L|NEB_ENST00000604864.1_Missense_Mutation_p.R3295L|NEB_ENST00000172853.10_Missense_Mutation_p.R3052L	p.R3295L	NM_001164508.1	NP_001157980	WXS	Illumina HiSeq	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	69	10086	-			3295					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9884G>T		.	.	.	.	.	.	.	.	.	.	C	23.8	4.461325	0.84317	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.09538	2.97;3.02;2.99;2.97	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.38175	1.15	0.80722	D	1	P	0.45672	0.864	P	0.45037	0.467	T	0.00632	-1.1635	10	0.49607	T	0.09	.	19.5601	0.95368	0.0:1.0:0.0:0.0	.	3052	P20929	NEBU_HUMAN	L	3052;3295;3295;3052	ENSP00000386259:R3052L;ENSP00000380505:R3295L;ENSP00000416578:R3295L;ENSP00000172853:R3052L	ENSP00000172853:R3052L	R	-	2	0	NEB	152192542	0.989000	0.36119	0.899000	0.35326	0.954000	0.61252	3.126000	0.50477	2.620000	0.88729	0.650000	0.86243	CGG		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	NM_004543		2:152484296
SBNO1	55206	broad.mit.edu	37	12	123794299	123794299	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:123794299G>T	ENST00000602398.1	-	26	3527	c.3400C>A	c.(3400-3402)Caa>Aaa	p.Q1134K	SBNO1_ENST00000602750.1_Missense_Mutation_p.Q1133K|SBNO1_ENST00000267176.4_Missense_Mutation_p.Q1133K|SBNO1_ENST00000420886.2_Missense_Mutation_p.Q1134K			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1134					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTGGCATTTTGAACAACTGCA	0.383																																						ENST00000420886.2		NA																	0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(3400-3402)Caa>Aaa		strawberry notch homolog 1 (Drosophila)							146.0	144.0	145.0					12																	123794299		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123794299G>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3400C>A	12.37:g.123794299G>T	ENSP00000473665:p.Gln1134Lys	True	False		Somatic	0				SBNO1_ENST00000267176.4_Missense_Mutation_p.Q1133K|SBNO1_ENST00000602398.1_Missense_Mutation_p.Q1134K|SBNO1_ENST00000602750.1_Missense_Mutation_p.Q1133K	p.Q1134K	NM_001167856.1	NP_001161328.1	WXS	Illumina HiSeq	Phase_I	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	25	3399	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1134					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.3400C>A	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682710	0.29872	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.28255	1.62;1.62	5.3	4.4	0.53042	.	0.072967	0.56097	D	0.000032	T	0.18467	0.0443	N	0.14661	0.345	0.48632	D	0.999684	B;B;B	0.33777	0.425;0.372;0.005	B;B;B	0.31812	0.136;0.083;0.011	T	0.07539	-1.0767	10	0.26408	T	0.33	-15.4955	14.3194	0.66476	0.0732:0.0:0.9268:0.0	.	1134;1133;245	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	K	1134;1133	ENSP00000387361:Q1134K;ENSP00000267176:Q1133K	ENSP00000267176:Q1133K	Q	-	1	0	SBNO1	122360252	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.590000	0.61013	2.471000	0.83476	0.467000	0.42956	CAA		0.383	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	0	NM_018183		12:123794299
TENM1	10178	broad.mit.edu	37	X	123637539	123637539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:123637539C>A	ENST00000371130.3	-	19	3379	c.3316G>T	c.(3316-3318)Gaa>Taa	p.E1106*	TENM1_ENST00000422452.2_Nonsense_Mutation_p.E1106*	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1106					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTTTCATATTCATATCCCACA	0.373																																						ENST00000422452.2		NA																	0					NA						c.(3316-3318)Gaa>Taa		teneurin transmembrane protein 1							153.0	147.0	149.0					X																	123637539		2203	4300	6503	SO:0001587	stop_gained	10178							g.chrX:123637539C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3316G>T	X.37:g.123637539C>A	ENSP00000360171:p.Glu1106*	True	False		Somatic	0				TENM1_ENST00000371130.3_Nonsense_Mutation_p.E1106*	p.E1106*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina HiSeq	Phase_I					19	3379	-			NA					B2RTR5|Q5JZ17	Nonsense_Mutation	SNP	ENST00000371130.3	37	c.3316G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	44	10.590277	0.99433	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.8649	0.92287	0.0:1.0:0.0:0.0	.	.	.	.	X	1106	.	ENSP00000360171:E1106X	E	-	1	0	ODZ1	123465220	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.402000	0.81655	0.600000	0.82982	GAA		0.373	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	0	NM_014253		X:123637539
URB2	9816	broad.mit.edu	37	1	229763469	229763469	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:229763469G>T	ENST00000258243.2	+	2	225	c.89G>T	c.(88-90)tGg>tTg	p.W30L	TAF5L_ENST00000366674.1_5'Flank|TAF5L_ENST00000258281.2_5'Flank|TAF5L_ENST00000366675.3_5'Flank|TAF5L_ENST00000477957.1_5'Flank	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	30						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CACTTTGCTTGGATTTCTCAC	0.338																																						ENST00000258243.2		NA																	0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(88-90)tGg>tTg		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							99.0	111.0	107.0					1																	229763469		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229763469G>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.89G>T	1.37:g.229763469G>T	ENSP00000258243:p.Trp30Leu	False	False		Somatic	0					p.W30L	NM_014777.2	NP_055592.2	WXS	Illumina HiSeq	Phase_I	Q14146	URB2_HUMAN			2	225	+			30					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.89G>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169822	0.78452	.	.	ENSG00000135763	ENST00000258243	T	0.75938	-0.98	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.81123	0.4757	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79150	-0.1922	9	.	.	.	-14.7331	18.8725	0.92320	0.0:0.0:1.0:0.0	.	30	Q14146	URB2_HUMAN	L	30	ENSP00000258243:W30L	.	W	+	2	0	URB2	227830092	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.968000	0.70413	2.525000	0.85131	0.561000	0.74099	TGG		0.338	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	0	NM_014777		1:229763469
HECW2	57520	broad.mit.edu	37	2	197090556	197090556	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:197090556A>G	ENST00000260983.3	-	23	4138	c.3956T>C	c.(3955-3957)aTa>aCa	p.I1319T	HECW2_ENST00000409111.1_Missense_Mutation_p.I963T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1319	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATACTGGTGTATTAGTGCAAG	0.403																																						ENST00000260983.3		NA																	0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(3955-3957)aTa>aCa		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							141.0	114.0	123.0					2																	197090556		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197090556A>G	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3956T>C	2.37:g.197090556A>G	ENSP00000260983:p.Ile1319Thr	False	False		Somatic	0				HECW2_ENST00000409111.1_Missense_Mutation_p.I963T	p.I1319T	NM_020760.1	NP_065811.1	WXS	Illumina HiSeq	Phase_I	Q9P2P5	HECW2_HUMAN			23	4138	-			NA			HECT.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.3956T>C	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636658	0.87760	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.57907	0.37;0.37	5.17	5.17	0.71159	HECT (4);	0.089981	0.85682	D	0.000000	T	0.62429	0.2427	M	0.64997	1.995	0.80722	D	1	D	0.53619	0.961	P	0.52627	0.704	T	0.67581	-0.5634	10	0.87932	D	0	.	15.1845	0.72989	1.0:0.0:0.0:0.0	.	1319	Q9P2P5	HECW2_HUMAN	T	963;1319	ENSP00000386775:I963T;ENSP00000260983:I1319T	ENSP00000260983:I1319T	I	-	2	0	HECW2	196798801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.761000	0.91691	2.182000	0.69389	0.459000	0.35465	ATA		0.403	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	0	NM_020760		2:197090556
CSMD2	114784	broad.mit.edu	37	1	33985222	33985222	+	Silent	SNP	G	G	T	rs144356782		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:33985222G>T	ENST00000373381.4	-	70	10968	c.10792C>A	c.(10792-10794)Cgg>Agg	p.R3598R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3454						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R3454W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AATGTGGCCCGAACATTGGTG	0.537																																						ENST00000373381.4		NA																	1	Substitution - Missense(1)	p.R3454W(1)	skin(1)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(10792-10794)Cgg>Agg		CUB and Sushi multiple domains 2							316.0	275.0	289.0					1																	33985222		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33985222G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10792C>A	1.37:g.33985222G>T		True	False		Somatic	0					p.R3598R	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	WXS	Illumina HiSeq	Phase_I	Q7Z408	CSMD2_HUMAN			70	10968	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3454					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.10792C>A																																																																																					0.537	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_052896		1:33985222
SYT9	143425	broad.mit.edu	37	11	7335003	7335003	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:7335003C>A	ENST00000318881.6	+	3	1112	c.875C>A	c.(874-876)cCg>cAg	p.P292Q	SYT9_ENST00000396716.2_Missense_Mutation_p.P260Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	292	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTTTTATTTCCGGTTCCCTAC	0.433																																						ENST00000318881.6		NA																	0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(874-876)cCg>cAg		synaptotagmin IX							204.0	206.0	205.0					11																	7335003		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7335003C>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.875C>A	11.37:g.7335003C>A	ENSP00000324419:p.Pro292Gln	False	False		Somatic	0				SYT9_ENST00000396716.2_Missense_Mutation_p.P260Q	p.P292Q	NM_175733.3	NP_783860.1	WXS	Illumina HiSeq	Phase_I	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	1112	+			292			C2 1.			Missense_Mutation	SNP	ENST00000318881.6	37	c.875C>A	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958114	0.73902	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.68903	-0.36;-0.36	5.97	5.97	0.96955	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.188620	0.37955	N	0.001878	T	0.54631	0.1870	N	0.04387	-0.21	0.58432	D	0.999995	P	0.34743	0.466	P	0.44772	0.46	T	0.54330	-0.8310	9	.	.	.	.	17.9326	0.89002	0.0:1.0:0.0:0.0	.	292	Q86SS6	SYT9_HUMAN	Q	260;292	ENSP00000379944:P260Q;ENSP00000324419:P292Q	.	P	+	2	0	SYT9	7291579	1.000000	0.71417	0.962000	0.40283	0.988000	0.76386	4.967000	0.63722	2.836000	0.97738	0.655000	0.94253	CCG		0.433	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	0	NM_175733		11:7335003
