#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NDUFV1	4723	broad.mit.edu	37	11	67379397	67379397	+	Silent	SNP	C	C	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:67379397C>A	ENST00000322776.6	+	8	1263	c.1110C>A	c.(1108-1110)ctC>ctA	p.L370L	NDUFV1_ENST00000529927.1_Silent_p.L361L|DOC2GP_ENST00000495263.1_RNA|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000532303.1_Silent_p.L269L|NDUFV1_ENST00000415352.2_Silent_p.L363L	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	370					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						TCGCCCGCCTCATTGAGTTCT	0.602																																						ENST00000322776.6																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						c.(1108-1110)ctC>ctA		NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	NADH(DB00157)						128.0	114.0	119.0					11																	67379397		2200	4294	6494	SO:0001819	synonymous_variant	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67379397C>A	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.1110C>A	11.37:g.67379397C>A						NDUFV1_ENST00000415352.2_Silent_p.L363L|NDUFV1_ENST00000532303.1_Silent_p.L269L|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000529927.1_Silent_p.L361L	p.L370L	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN			8	1263	+			370					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Silent	SNP	ENST00000322776.6	37	c.1110C>A	CCDS8173.1																																																																																				0.602	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		25	43	1	0	4.87955e-14	1	5.34874e-14	25	43				
ITGB4	3691	broad.mit.edu	37	17	73752598	73752598	+	Silent	SNP	C	C	T	rs530315339		TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:73752598C>T	ENST00000200181.3	+	36	4984	c.4797C>T	c.(4795-4797)cgC>cgT	p.R1599R	ITGB4_ENST00000339591.3_Silent_p.R1582R|ITGB4_ENST00000450894.3_Silent_p.R1529R|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Silent_p.R1529R|ITGB4_ENST00000449880.2_Silent_p.R1582R	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1599	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACGTGTTCCGCGTGCGGGCCC	0.652																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(4795-4797)cgC>cgT		integrin, beta 4							100.0	103.0	102.0					17																	73752598		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73752598C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4797C>T	17.37:g.73752598C>T						ITGB4_ENST00000579662.1_Silent_p.R1529R|ITGB4_ENST00000450894.3_Silent_p.R1529R|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Silent_p.R1582R|ITGB4_ENST00000339591.3_Silent_p.R1582R	p.R1599R	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		36	4984	+	all_cancers(13;1.5e-07)		1599			Fibronectin type-III 3.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.4797C>T	CCDS11727.1																																																																																				0.652	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			52	98	0	0	0	1	0	52	98				
AURKC	6795	broad.mit.edu	37	19	57746387	57746387	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:57746387G>C	ENST00000302804.7	+	6	906	c.720G>C	c.(718-720)gaG>gaC	p.E240D	AURKC_ENST00000415300.2_Missense_Mutation_p.E221D|AURKC_ENST00000448930.1_Missense_Mutation_p.E206D|AURKC_ENST00000599062.1_Missense_Mutation_p.E237D|AURKC_ENST00000598785.1_Missense_Mutation_p.E206D	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CACCCTTTGAGAGCGCCTCCC	0.537																																						ENST00000302804.7																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.(718-720)gaG>gaC		aurora kinase C							146.0	124.0	132.0					19																	57746387		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57746387G>C		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.720G>C	19.37:g.57746387G>C	ENSP00000302898:p.Glu240Asp					AURKC_ENST00000448930.1_Missense_Mutation_p.E206D|AURKC_ENST00000415300.2_Missense_Mutation_p.E221D|AURKC_ENST00000598785.1_Missense_Mutation_p.E206D|AURKC_ENST00000599062.1_Missense_Mutation_p.E237D	p.E240D	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	6	906	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	240			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.720G>C	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520871	0.27211	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.65732	-0.17;-0.17;-0.17	4.09	4.09	0.47781	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050006	0.85682	D	0.000000	T	0.38295	0.1035	N	0.04355	-0.22	0.35770	D	0.820849	B;B;B	0.16396	0.017;0.003;0.013	B;B;B	0.18871	0.023;0.007;0.02	T	0.47774	-0.9091	10	0.59425	D	0.04	-37.2644	10.1987	0.43071	0.0:0.2018:0.7982:0.0	.	237;240;221	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	D	221;206;240	ENSP00000407162:E221D;ENSP00000406798:E206D;ENSP00000302898:E240D	ENSP00000302898:E240D	E	+	3	2	AURKC	62438199	1.000000	0.71417	0.990000	0.47175	0.425000	0.31504	1.923000	0.40055	2.576000	0.86940	0.655000	0.94253	GAG		0.537	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		10	45	0	0	0	1	0	10	45				
LRP5	4041	broad.mit.edu	37	11	68153966	68153966	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:68153966G>A	ENST00000294304.7	+	6	1304	c.1198G>A	c.(1198-1200)Gcg>Acg	p.A400T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	400	Beta-propeller 2.		A -> E (in OPPG). {ECO:0000269|PubMed:16252235}.		adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCCGCAGGGCGTACCTGGA	0.642																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1198-1200)Gcg>Acg		low density lipoprotein receptor-related protein 5							100.0	80.0	87.0					11																	68153966		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68153966G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1198G>A	11.37:g.68153966G>A	ENSP00000294304:p.Ala400Thr						p.A400T	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			6	1304	+			400		A -> E (in OPPG).	Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1198G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050792	0.55218	.	.	ENSG00000162337	ENST00000294304	D	0.91180	-2.8	3.81	2.87	0.33458	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.46145	U	0.000302	D	0.90164	0.6926	M	0.76433	2.335	0.58432	D	0.999991	B	0.23128	0.08	B	0.30716	0.119	D	0.88594	0.3145	10	0.66056	D	0.02	.	12.869	0.57955	0.0:0.0:0.8357:0.1643	.	400	O75197	LRP5_HUMAN	T	400	ENSP00000294304:A400T	ENSP00000294304:A400T	A	+	1	0	LRP5	67910542	1.000000	0.71417	0.972000	0.41901	0.891000	0.51852	2.610000	0.46325	0.956000	0.37904	0.449000	0.29647	GCG		0.642	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		33	58	0	0	0	1	0	33	58				
ZNF160	90338	broad.mit.edu	37	19	53573428	53573428	+	Missense_Mutation	SNP	C	C	T	rs571906872		TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:53573428C>T	ENST00000429604.1	-	7	774	c.359G>A	c.(358-360)aGa>aAa	p.R120K	ZNF160_ENST00000418871.1_Missense_Mutation_p.R120K|ZNF160_ENST00000599056.1_Missense_Mutation_p.R120K|ZNF160_ENST00000601421.1_Missense_Mutation_p.R84K	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	120					hemopoiesis (GO:0030097)|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)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GCTTTCGTGTCTTTCCAACAC	0.398																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(250-252)aGa>aAa		zinc finger protein 160							152.0	141.0	145.0					19																	53573428		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53573428C>T	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.359G>A	19.37:g.53573428C>T	ENSP00000406201:p.Arg120Lys					ZNF160_ENST00000599056.1_Missense_Mutation_p.R120K|ZNF160_ENST00000429604.1_Missense_Mutation_p.R120K|ZNF160_ENST00000418871.1_Missense_Mutation_p.R120K	p.R84K			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	1127	-			120					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.251G>A	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591508	0.28357	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07908	3.15;3.15	2.39	2.39	0.29439	.	.	.	.	.	T	0.06050	0.0157	L	0.29908	0.895	0.20403	N	0.999905	P	0.42409	0.779	B	0.37989	0.262	T	0.33369	-0.9871	9	0.18276	T	0.48	.	9.9429	0.41591	0.0:1.0:0.0:0.0	.	120	Q9HCG1	ZN160_HUMAN	K	120	ENSP00000406201:R120K;ENSP00000409597:R120K	ENSP00000409597:R120K	R	-	2	0	ZNF160	58265240	0.215000	0.23574	0.007000	0.13788	0.037000	0.13140	2.440000	0.44855	1.317000	0.45149	0.561000	0.74099	AGA		0.398	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		37	49	0	0	0	1	0	37	49				
EXTL3	2137	broad.mit.edu	37	8	28608269	28608269	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr8:28608269C>G	ENST00000220562.4	+	7	3548	c.2646C>G	c.(2644-2646)ttC>ttG	p.F882L	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.F498L	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	882					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GCATCAACTTCTTCGTGAAGG	0.567																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(2644-2646)ttC>ttG		exostosin-like glycosyltransferase 3							211.0	160.0	177.0					8																	28608269		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28608269C>G	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.2646C>G	8.37:g.28608269C>G	ENSP00000220562:p.Phe882Leu					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.F498L	p.F882L	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	7	3548	+		Ovarian(32;0.069)	882					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.2646C>G	CCDS6070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.14|13.14	2.148928|2.148928	0.37923|0.37923	.|.	.|.	ENSG00000012232|ENSG00000012232	ENST00000523149;ENST00000220562|ENST00000521473	D;D|.	0.85556|.	-2.0;-2.0|.	5.61|5.61	-6.46|-6.46	0.01908|0.01908	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67011|0.67011	0.2848|0.2848	L|L	0.52905|0.52905	1.665|1.665	0.58432|0.58432	D|D	0.999997|0.999997	P|.	0.49635|.	0.926|.	P|.	0.44772|.	0.46|.	T|T	0.66767|0.66767	-0.5840|-0.5840	10|5	0.11182|.	T|.	0.66|.	-25.7359|-25.7359	22.1087|22.1087	0.99966|0.99966	0.0:0.9002:0.0:0.0998|0.0:0.9002:0.0:0.0998	.|.	882|.	O43909|.	EXTL3_HUMAN|.	L|V	498;882|173	ENSP00000428691:F498L;ENSP00000220562:F882L|.	ENSP00000220562:F882L|.	F|L	+|+	3|1	2|0	EXTL3|EXTL3	28664188|28664188	0.973000|0.973000	0.33851|0.33851	0.565000|0.565000	0.28409|0.28409	0.971000|0.971000	0.66376|0.66376	0.217000|0.217000	0.17603|0.17603	-1.963000|-1.963000	0.01013|0.01013	-0.378000|-0.378000	0.06908|0.06908	TTC|CTT		0.567	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		50	73	0	0	0	1	0	50	73				
MRPS17P9	359760	broad.mit.edu	37	X	118513990	118513990	+	RNA	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:118513990C>T	ENST00000413240.1	-	0	491																											AACTACCTATCTGGAGAGTCC	0.423																																						ENST00000413240.1																			0																				54.0	49.0	50.0					X																	118513990		876	1991	2867			359760							g.chrX:118513990C>T																													X.37:g.118513990C>T														0	491	-									RNA	SNP	ENST00000413240.1	37																																																																																						0.423	RP5-1139I1.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000058025.1			21	29	0	0	0	1	0	21	29				
NPTX2	4885	broad.mit.edu	37	7	98256518	98256518	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:98256518C>A	ENST00000265634.3	+	4	1095	c.930C>A	c.(928-930)caC>caA	p.H310Q		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	310	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCAAGTGGCACCACATCTGTG	0.642																																						ENST00000265634.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(928-930)caC>caA		neuronal pentraxin II							91.0	75.0	81.0					7																	98256518		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256518C>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.930C>A	7.37:g.98256518C>A	ENSP00000265634:p.His310Gln						p.H310Q	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1095	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		310			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.930C>A	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539169	0.65085	.	.	ENSG00000106236	ENST00000265634	T	0.63913	-0.07	5.39	4.27	0.50696	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73173	-0.4066	10	0.48119	T	0.1	-5.0601	7.9089	0.29778	0.0:0.8332:0.0:0.1668	.	310	P47972	NPTX2_HUMAN	Q	310	ENSP00000265634:H310Q	ENSP00000265634:H310Q	H	+	3	2	NPTX2	98094454	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.850000	0.27737	2.682000	0.91365	0.655000	0.94253	CAC		0.642	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		22	42	1	0	4.16121e-05	1	4.27368e-05	22	42				
SYCP2	10388	broad.mit.edu	37	20	58470571	58470571	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:58470571G>A	ENST00000357552.3	-	20	1811	c.1586C>T	c.(1585-1587)tCa>tTa	p.S529L	SYCP2_ENST00000371001.2_Missense_Mutation_p.S529L			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	529					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTATTTTCTGATGTTTGAGA	0.373																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1585-1587)tCa>tTa		synaptonemal complex protein 2							194.0	186.0	189.0					20																	58470571		2203	4300	6503	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58470571G>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1586C>T	20.37:g.58470571G>A	ENSP00000350162:p.Ser529Leu					SYCP2_ENST00000371001.2_Missense_Mutation_p.S529L	p.S529L			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		20	1811	-	all_lung(29;0.00344)		529					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.1586C>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	6.067	0.380658	0.11466	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.19105	2.43;2.43;2.17	4.72	-1.84	0.07809	.	1.731400	0.03212	N	0.176316	T	0.19287	0.0463	L	0.60455	1.87	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.36311	-0.9753	10	0.62326	D	0.03	0.6291	0.6953	0.00898	0.3485:0.1637:0.3206:0.1672	.	529	Q9BX26	SYCP2_HUMAN	L	529	ENSP00000360040:S529L;ENSP00000350162:S529L;ENSP00000402456:S529L	ENSP00000350162:S529L	S	-	2	0	SYCP2	57903966	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.926000	0.03988	-0.074000	0.12820	-0.218000	0.12543	TCA		0.373	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		43	59	0	0	0	1	0	43	59				
AP4E1	23431	broad.mit.edu	37	15	51294809	51294809	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr15:51294809C>T	ENST00000261842.5	+	21	3470	c.3364C>T	c.(3364-3366)Ctt>Ttt	p.L1122F	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.L1047F	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1122					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTGTTCTACTCTTCCTGACTA	0.458																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(3364-3366)Ctt>Ttt		adaptor-related protein complex 4, epsilon 1 subunit							269.0	208.0	229.0					15																	51294809		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51294809C>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.3364C>T	15.37:g.51294809C>T	ENSP00000261842:p.Leu1122Phe					AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.L1047F	p.L1122F	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	21	3470	+			1122					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.3364C>T	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937124	0.73557	.	.	ENSG00000081014	ENST00000261842	T	0.43688	0.94	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	M	0.61703	1.905	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.52931	-0.8509	10	0.26408	T	0.33	-14.09	11.7797	0.52006	0.0:0.9201:0.0:0.0798	.	1122	Q9UPM8	AP4E1_HUMAN	F	1122	ENSP00000261842:L1122F	ENSP00000261842:L1122F	L	+	1	0	AP4E1	49082101	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	4.409000	0.59768	2.576000	0.86940	0.591000	0.81541	CTT		0.458	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			21	30	0	0	0	1	0	21	30				
LGR6	59352	broad.mit.edu	37	1	202287714	202287714	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:202287714C>T	ENST00000367278.3	+	18	2372	c.2283C>T	c.(2281-2283)ggC>ggT	p.G761G	LGR6_ENST00000255432.7_Silent_p.G709G|LGR6_ENST00000439764.2_Silent_p.G622G	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	761					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGCCGCGGGGCGACTTTGAGG	0.622																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2281-2283)ggC>ggT		leucine-rich repeat containing G protein-coupled receptor 6							84.0	68.0	74.0					1																	202287714		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287714C>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2283C>T	1.37:g.202287714C>T						LGR6_ENST00000255432.7_Silent_p.G709G|LGR6_ENST00000439764.2_Silent_p.G622G	p.G761G	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2372	+			761					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.2283C>T	CCDS30971.1																																																																																				0.622	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		20	37	0	0	0	1	0	20	37				
UBE2E2	7325	broad.mit.edu	37	3	23574161	23574161	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:23574161C>T	ENST00000396703.1	+	5	657	c.477C>T	c.(475-477)tcC>tcT	p.S159S	UBE2E2_ENST00000425792.1_Silent_p.S159S	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	159					ISG15-protein conjugation (GO:0032020)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)		ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						TTCTCCTCTCCATCTGCTCAC	0.388																																					GBM(85;1941 2083 9456)	ENST00000396703.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						c.(475-477)tcC>tcT		ubiquitin-conjugating enzyme E2E 2							90.0	88.0	89.0					3																	23574161		2203	4300	6503	SO:0001819	synonymous_variant	7325				ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity	g.chr3:23574161C>T	AK057886	CCDS2637.1	3p24.2	2011-05-19	2011-05-19		ENSG00000182247	ENSG00000182247		"""Ubiquitin-conjugating enzymes E2"""	12478	protein-coding gene	gene with protein product		602163	"""ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast)"""			9371400	Standard	NM_152653		Approved	UbcH8, FLJ25157	uc003ccg.2	Q96LR5	OTTHUMG00000130482	ENST00000396703.1:c.477C>T	3.37:g.23574161C>T						UBE2E2_ENST00000425792.1_Silent_p.S159S	p.S159S	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN			5	657	+			159						Silent	SNP	ENST00000396703.1	37	c.477C>T	CCDS2637.1																																																																																				0.388	UBE2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252881.2	NM_152653		28	44	0	0	0	1	0	28	44				
PCLO	27445	broad.mit.edu	37	7	82584883	82584883	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:82584883C>G	ENST00000333891.9	-	5	5723	c.5386G>C	c.(5386-5388)Gaa>Caa	p.E1796Q	PCLO_ENST00000423517.2_Missense_Mutation_p.E1796Q	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						TGTTGCTGTTCTATTTCCCTC	0.383																																						ENST00000423517.2																			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.(5386-5388)Gaa>Caa		piccolo presynaptic cytomatrix protein							113.0	105.0	107.0					7																	82584883		1829	4080	5909	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584883C>G	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.5386G>C	7.37:g.82584883C>G	ENSP00000334319:p.Glu1796Gln					PCLO_ENST00000333891.8_Missense_Mutation_p.E1796Q	p.E1796Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	5723	-			1727						Missense_Mutation	SNP	ENST00000333891.9	37	c.5386G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425487	0.25639	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.36520	1.25;1.28	5.56	5.56	0.83823	.	.	.	.	.	T	0.48677	0.1513	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.54016	-0.8356	9	0.87932	D	0	.	19.5207	0.95184	0.0:1.0:0.0:0.0	.	1796;1796	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	1727;1796;1796	ENSP00000334319:E1796Q;ENSP00000388393:E1796Q	ENSP00000334319:E1796Q	E	-	1	0	PCLO	82422819	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.733000	0.68571	2.614000	0.88457	0.650000	0.86243	GAA		0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		29	69	0	0	0	1	0	29	69				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	40	0	0	0	1	0	4	40				
ZNF235	9310	broad.mit.edu	37	19	44792495	44792495	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:44792495G>T	ENST00000291182.4	-	5	1195	c.1093C>A	c.(1093-1095)Cat>Aat	p.H365N	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	365					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ATAGGCAAATGAGCATAAAGA	0.453																																						ENST00000291182.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1093-1095)Cat>Aat		zinc finger protein 235							84.0	78.0	80.0					19																	44792495		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44792495G>T	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1093C>A	19.37:g.44792495G>T	ENSP00000291182:p.His365Asn					ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	p.H365N	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN			5	1195	-		Prostate(69;0.0352)|all_neural(266;0.116)	365					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.1093C>A	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	g	16.69	3.194499	0.58017	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	D	0.86865	-2.18	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41938	D	0.000798	D	0.94902	0.8352	H	0.96175	3.78	0.34461	D	0.70178	D;D	0.65815	0.994;0.995	D;D	0.74674	0.973;0.984	D	0.97760	1.0220	10	0.87932	D	0	.	11.477	0.50304	0.0:0.0:0.8192:0.1808	.	361;365	Q14590-2;Q14590	.;ZN235_HUMAN	N	365;365;287	ENSP00000291182:H365N	ENSP00000291182:H365N	H	-	1	0	ZNF235	49484335	1.000000	0.71417	0.747000	0.31113	0.928000	0.56348	7.176000	0.77643	2.145000	0.66743	0.457000	0.33378	CAT		0.453	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			11	33	1	0	3.86212e-05	1	4.00256e-05	11	33				
C1orf109	54955	broad.mit.edu	37	1	38155466	38155466	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:38155466C>T	ENST00000358011.4	-	2	276	c.87G>A	c.(85-87)caG>caA	p.Q29Q	C1orf109_ENST00000464085.1_Silent_p.Q29Q|CDCA8_ENST00000373055.1_5'Flank|CDCA8_ENST00000327331.2_5'Flank	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	29										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				GCAGGGCACTCTGCCACAGGC	0.642																																						ENST00000358011.4																			0				lung(2)|prostate(2)	4						c.(85-87)caG>caA		chromosome 1 open reading frame 109							21.0	24.0	23.0					1																	38155466		2203	4299	6502	SO:0001819	synonymous_variant	54955							g.chr1:38155466C>T	AK000515	CCDS423.1	1p34.3	2012-06-21			ENSG00000116922	ENSG00000116922			26039	protein-coding gene	gene with protein product		614799				22548824	Standard	XM_005270979		Approved	FLJ20508	uc001cbp.3	Q9NX04	OTTHUMG00000004323	ENST00000358011.4:c.87G>A	1.37:g.38155466C>T						C1orf109_ENST00000494120.1_5'UTR	p.Q29Q	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN			2	276	-		Myeloproliferative disorder(586;0.0393)	29					D3DPT1|Q8WVD1	Silent	SNP	ENST00000358011.4	37	c.87G>A	CCDS423.1																																																																																				0.642	C1orf109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012486.1	NM_017850		22	25	0	0	0	1	0	22	25				
KCNQ4	9132	broad.mit.edu	37	1	41285102	41285102	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:41285102C>G	ENST00000347132.5	+	5	874	c.792C>G	c.(790-792)aaC>aaG	p.N264K	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.N264K	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	264					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	AGGACGCCAACTCCGACTTCT	0.637																																						ENST00000347132.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(790-792)aaC>aaG		potassium voltage-gated channel, KQT-like subfamily, member 4							134.0	108.0	117.0					1																	41285102		2203	4300	6503	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41285102C>G	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.792C>G	1.37:g.41285102C>G	ENSP00000262916:p.Asn264Lys					KCNQ4_ENST00000509682.2_Missense_Mutation_p.N264K|KCNQ4_ENST00000506017.1_3'UTR	p.N264K	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		5	874	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	264					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.792C>G	CCDS456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.06|13.06	2.123382|2.123382	0.37436|0.37436	.|.	.|.	ENSG00000117013|ENSG00000117013	ENST00000443478|ENST00000347132;ENST00000509682	.|D;D	.|0.97553	.|-4.43;-4.43	5.08|5.08	4.17|4.17	0.49024|0.49024	.|Ion transport (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96809|0.96809	0.8958|0.8958	L|L	0.43598|0.43598	1.365|1.365	0.58432|0.58432	D|D	0.999998|0.999998	.|P;D	.|0.89917	.|0.944;1.0	.|P;D	.|0.87578	.|0.718;0.998	D|D	0.95274|0.95274	0.8380|0.8380	5|10	.|0.39692	.|T	.|0.17	-35.2292|-35.2292	7.8426|7.8426	0.29408|0.29408	0.0:0.8113:0.0:0.1887|0.0:0.8113:0.0:0.1887	.|.	.|264;264	.|P56696-2;P56696	.|.;KCNQ4_HUMAN	V|K	160|264	.|ENSP00000262916:N264K;ENSP00000423756:N264K	.|ENSP00000262916:N264K	L|N	+|+	1|3	0|2	KCNQ4|KCNQ4	41057689|41057689	0.088000|0.088000	0.21588|0.21588	0.998000|0.998000	0.56505|0.56505	0.901000|0.901000	0.52897|0.52897	0.222000|0.222000	0.17699|0.17699	1.134000|1.134000	0.42165|0.42165	0.563000|0.563000	0.77884|0.77884	CTC|AAC		0.637	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		45	63	0	0	0	1	0	45	63				
CAPZA2	830	broad.mit.edu	37	7	116544411	116544411	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:116544411G>C	ENST00000361183.3	+	5	539	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	CAPZA2_ENST00000458284.2_Missense_Mutation_p.E134Q|CAPZA2_ENST00000490693.1_Missense_Mutation_p.E134Q	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	134					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			TTACGTAAAAGAACATTACCC	0.408																																						ENST00000361183.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(400-402)Gaa>Caa		capping protein (actin filament) muscle Z-line, alpha 2							109.0	97.0	101.0					7																	116544411		2203	4300	6503	SO:0001583	missense	830				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding	g.chr7:116544411G>C		CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.400G>C	7.37:g.116544411G>C	ENSP00000354947:p.Glu134Gln					CAPZA2_ENST00000458284.2_Missense_Mutation_p.E134Q|CAPZA2_ENST00000490693.1_Missense_Mutation_p.E134Q	p.E134Q	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)		5	539	+	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		134					B4DG50	Missense_Mutation	SNP	ENST00000361183.3	37	c.400G>C	CCDS5768.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765109	0.69878	.	.	ENSG00000198898	ENST00000361183;ENST00000458284;ENST00000490693	.	.	.	5.42	5.42	0.78866	.	0.047700	0.85682	D	0.000000	T	0.68007	0.2954	M	0.63843	1.955	0.80722	D	1	B	0.21520	0.057	B	0.28553	0.091	T	0.62868	-0.6763	9	0.30854	T	0.27	-19.8023	19.573	0.95428	0.0:0.0:1.0:0.0	.	134	P47755	CAZA2_HUMAN	Q	134	.	ENSP00000354947:E134Q	E	+	1	0	CAPZA2	116331647	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.809000	0.99208	2.687000	0.91594	0.655000	0.94253	GAA		0.408	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4	NM_006136		32	41	0	0	0	1	0	32	41				
UNC45B	146862	broad.mit.edu	37	17	33495263	33495263	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:33495263C>T	ENST00000268876.5	+	10	1432	c.1335C>T	c.(1333-1335)ctC>ctT	p.L445L	RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Silent_p.L445L|UNC45B_ENST00000394570.2_Silent_p.L445L|UNC45B_ENST00000591048.1_Silent_p.L445L|UNC45B_ENST00000378449.1_Silent_p.L445L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	445					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGAGGCCCTCATCCATGCCT	0.557																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1333-1335)ctC>ctT		unc-45 homolog B (C. elegans)							109.0	82.0	91.0					17																	33495263		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33495263C>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1335C>T	17.37:g.33495263C>T						UNC45B_ENST00000591048.1_Silent_p.L445L|UNC45B_ENST00000433649.1_Silent_p.L445L|UNC45B_ENST00000394570.2_Silent_p.L445L|UNC45B_ENST00000378449.1_Silent_p.L445L	p.L445L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			10	1432	+		Ovarian(249;0.17)	445					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.1335C>T	CCDS11292.1																																																																																				0.557	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		23	38	0	0	0	1	0	23	38				
MIR1207	100302175	broad.mit.edu	37	8	129061434	129061434	+	RNA	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr8:129061434G>A	ENST00000408249.1	+	0	37					NR_031612.1				microRNA 1207																		GGCTGGCTGGGTCTGGTAGTG	0.567																																						ENST00000408249.1																			0																				49.0	54.0	53.0					8																	129061434		1568	3582	5150			100302175							g.chr8:129061434G>A			8	2011-09-12		2008-12-18	ENSG00000221176	ENSG00000221176		"""ncRNAs / Micro RNAs"""	35273	non-coding RNA	RNA, micro				MIRN1207			Standard	NR_031612		Approved	hsa-mir-1207	uc022bbj.1				8.37:g.129061434G>A								NR_031612.1						0	37	+									RNA	SNP	ENST00000408249.1	37																																																																																						0.567	MIR1207-201	KNOWN	basic	miRNA	miRNA		NR_031612		27	34	0	0	0	1	0	27	34				
PPP1R16B	26051	broad.mit.edu	37	20	37534656	37534656	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:37534656C>T	ENST00000299824.1	+	7	930	c.741C>T	c.(739-741)ctC>ctT	p.L247L	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	247					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGCTGAGCTCCTCCTGGACC	0.597																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(739-741)ctC>ctT		protein phosphatase 1, regulatory subunit 16B							105.0	92.0	96.0					20																	37534656		2203	4300	6503	SO:0001819	synonymous_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37534656C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.741C>T	20.37:g.37534656C>T						PPP1R16B_ENST00000373331.2_Intron	p.L247L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			7	930	+		Myeloproliferative disorder(115;0.00878)	247					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	c.741C>T	CCDS13309.1																																																																																				0.597	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		27	39	0	0	0	1	0	27	39				
MYPN	84665	broad.mit.edu	37	10	69902832	69902832	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr10:69902832C>G	ENST00000358913.5	+	3	1526	c.1038C>G	c.(1036-1038)atC>atG	p.I346M	MYPN_ENST00000354393.2_Missense_Mutation_p.I71M|MYPN_ENST00000373675.3_Missense_Mutation_p.I346M|MYPN_ENST00000540630.1_Missense_Mutation_p.I346M	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	346	Ig-like 1.|Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTTCTAACATCTATGGGACAG	0.393																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(1036-1038)atC>atG		myopalladin							101.0	94.0	97.0					10																	69902832		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69902832C>G	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1038C>G	10.37:g.69902832C>G	ENSP00000351790:p.Ile346Met					MYPN_ENST00000354393.2_Missense_Mutation_p.I71M|MYPN_ENST00000373675.3_Missense_Mutation_p.I346M|MYPN_ENST00000540630.1_Missense_Mutation_p.I346M	p.I346M	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			3	1526	+			346			Ig-like 1.|Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.1038C>G	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741048	0.49151	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630;ENST00000373675	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.59	0.161	0.14977	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.136638	0.53938	D	0.000050	T	0.70979	0.3286	L	0.53617	1.68	0.43667	D	0.996097	D;D;D;D	0.89917	0.999;0.999;0.998;1.0	D;D;D;D	0.91635	0.996;0.952;0.984;0.999	T	0.66312	-0.5955	9	.	.	.	.	5.6454	0.17586	0.1253:0.5903:0.0:0.2845	.	346;346;71;346	F5GWA6;Q86TC9-3;Q86TC9-2;Q86TC9	.;.;.;MYPN_HUMAN	M	71;71;346;346;346	ENSP00000346369:I71M;ENSP00000351790:I346M;ENSP00000441668:I346M;ENSP00000362779:I346M	.	I	+	3	3	MYPN	69572838	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.730000	0.26043	0.301000	0.22738	0.655000	0.94253	ATC		0.393	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		22	54	0	0	0	1	0	22	54				
DPH3	285381	broad.mit.edu	37	3	16305733	16305733	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:16305733C>T	ENST00000488423.1	-	2	207	c.112G>A	c.(112-114)Gat>Aat	p.D38N	OXNAD1_ENST00000285083.5_5'Flank|DPH3_ENST00000383775.4_Intron|OXNAD1_ENST00000435829.2_5'Flank|OXNAD1_ENST00000606098.1_5'Flank|DPH3_ENST00000285082.4_5'UTR|OXNAD1_ENST00000605932.1_5'Flank	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	38					negative regulation of protein secretion (GO:0050709)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of binding (GO:0051099)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(2)	2						TTCTCCAAATCTTCCTACAAC	0.448																																						ENST00000488423.1																			0				large_intestine(2)	2						c.(112-114)Gat>Aat		diphthamide biosynthesis 3							117.0	103.0	108.0					3																	16305733		2203	4300	6503	SO:0001583	missense	285381				negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding	cytoplasm|nucleus	metal ion binding|protein binding	g.chr3:16305733C>T	BC010181	CCDS2629.1, CCDS43058.1	3p25.1	2013-06-19	2013-06-19	2006-10-25	ENSG00000154813	ENSG00000154813			27717	protein-coding gene	gene with protein product	"""DPH3A, KTI11 homolog A (S. cerevisiae)"""	608959	"""zinc finger, CSL-type containing 2"", ""DPH3 homolog (KTI11, S. cerevisiae)"", ""DPH3, KTI11 homolog (S. cerevisiae)"""	ZCSL2		14527407, 14980502, 15485916, 16648478	Standard	NM_001047434		Approved	DESR1, DELGIP1, MGC20197, KTI11, DELGIP, DPH3A	uc003cau.3	Q96FX2	OTTHUMG00000129866	ENST00000488423.1:c.112G>A	3.37:g.16305733C>T	ENSP00000419599:p.Asp38Asn					DPH3_ENST00000285082.4_5'UTR|DPH3_ENST00000383775.4_Intron	p.D38N	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN			2	207	-			38						Missense_Mutation	SNP	ENST00000488423.1	37	c.112G>A	CCDS2629.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788199	0.96945	.	.	ENSG00000154813	ENST00000488423	.	.	.	5.42	5.42	0.78866	Zinc finger, DPH-type (2);	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	.	.	.	0.80722	D	1	P	0.46912	0.886	P	0.55785	0.784	T	0.77611	-0.2523	8	0.72032	D	0.01	-1.9385	18.347	0.90326	0.0:1.0:0.0:0.0	.	38	Q96FX2	DPH3_HUMAN	N	38	.	ENSP00000419599:D38N	D	-	1	0	DPH3	16280737	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.155000	0.71833	2.698000	0.92095	0.455000	0.32223	GAT		0.448	DPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252108.2	NM_206831		12	15	0	0	0	1	0	12	15				
CYLD	1540	broad.mit.edu	37	16	50811826	50811826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:50811826C>A	ENST00000427738.3	+	7	1317	c.1112C>A	c.(1111-1113)tCa>tAa	p.S371*	CYLD_ENST00000311559.9_Nonsense_Mutation_p.S371*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000540145.1_Nonsense_Mutation_p.S371*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S368*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	371	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.S371*(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CAATCCAAATCAAAAAATACA	0.313			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Substitution - Nonsense(1)	p.S371*(1)	skin(1)	central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62	GRCh37	CM001113	CYLD	M		c.(1111-1113)tCa>tAa		cylindromatosis (turban tumor syndrome)							86.0	80.0	82.0					16																	50811826		1815	4063	5878	SO:0001587	stop_gained	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50811826C>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1112C>A	16.37:g.50811826C>A	ENSP00000392025:p.Ser371*					CYLD_ENST00000568704.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.S371*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.S371*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S368*	p.S371*			Q9NQC7	CYLD_HUMAN			8	1527	+		all_cancers(37;0.0156)	371			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Nonsense_Mutation	SNP	ENST00000427738.3	37	c.1112C>A	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	C	38	6.825978	0.97865	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.57	4.62	0.57501	.	0.283087	0.35870	N	0.002940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4529	14.7297	0.69372	0.0:0.9298:0.0:0.0702	.	.	.	.	X	371;371;368;368	.	ENSP00000308928:S371X	S	+	2	0	CYLD	49369327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.580000	0.67464	1.473000	0.48159	0.650000	0.86243	TCA		0.313	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			25	10	1	0	2.98393e-07	1	3.14971e-07	25	10				
CATSPERD	257062	broad.mit.edu	37	19	5719865	5719865	+	5'Flank	SNP	T	T	C			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:5719865T>C	ENST00000381624.3	+	0	0				LONP1_ENST00000590511.1_5'UTR|LONP1_ENST00000585374.1_Intron|LONP1_ENST00000540670.2_Intron|CATSPERD_ENST00000381614.2_5'Flank|LONP1_ENST00000360614.3_Silent_p.G93G|LONP1_ENST00000590729.1_5'Flank|LONP1_ENST00000593119.1_Intron	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta						multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											cgccgccggcTCCTTCCTCCG	0.736																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(277-279)ggA>ggG		lon peptidase 1, mitochondrial							7.0	10.0	9.0					19																	5719865		2116	4114	6230	SO:0001631	upstream_gene_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5719865T>C	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036		19.37:g.5719865T>C	Exception_encountered					LONP1_ENST00000590511.1_5'UTR|LONP1_ENST00000593119.1_Intron|LONP1_ENST00000585374.1_Intron|LONP1_ENST00000540670.2_Intron	p.G93G	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			1	436	-			93					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.279A>G	CCDS12149.2																																																																																				0.736	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		4	19	0	0	0	1	0	4	19				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		5	12	1	0	0.000602214	1	0.000612968	5	12				
C16orf78	123970	broad.mit.edu	37	16	49412473	49412473	+	Silent	SNP	C	C	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:49412473C>A	ENST00000299191.3	+	3	480	c.363C>A	c.(361-363)ggC>ggA	p.G121G		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	121						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TGGTCCCTGGCAGCTACATCA	0.542																																						ENST00000299191.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						c.(361-363)ggC>ggA		chromosome 16 open reading frame 78							50.0	48.0	49.0					16																	49412473		2199	4300	6499	SO:0001819	synonymous_variant	123970							g.chr16:49412473C>A	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.363C>A	16.37:g.49412473C>A							p.G121G	NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN			3	480	+			121						Silent	SNP	ENST00000299191.3	37	c.363C>A	CCDS10738.1																																																																																				0.542	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		4	3	1	0	0.184627	1	0.184627	4	3				
MYH6	4624	broad.mit.edu	37	14	23862200	23862200	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:23862200C>T	ENST00000356287.3	-	23	3201	c.3172G>A	c.(3172-3174)Gag>Aag	p.E1058K	MYH6_ENST00000405093.3_Missense_Mutation_p.E1058K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1058					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGGTCGCCCTCCAGTTTCCGC	0.517																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(3172-3174)Gag>Aag		myosin, heavy chain 6, cardiac muscle, alpha							129.0	112.0	118.0					14																	23862200		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23862200C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3172G>A	14.37:g.23862200C>T	ENSP00000348634:p.Glu1058Lys					MYH6_ENST00000356287.3_Missense_Mutation_p.E1058K	p.E1058K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	24	3242	-	all_cancers(95;2.54e-05)		1058					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.3172G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	34	5.412982	0.96072	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.93488	-3.23;-3.23	4.82	4.82	0.62117	.	.	.	.	.	D	0.97788	0.9274	H	0.95645	3.7	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.99194	1.0871	9	0.87932	D	0	.	18.2902	0.90127	0.0:1.0:0.0:0.0	.	1058	P13533	MYH6_HUMAN	K	1058	ENSP00000386041:E1058K;ENSP00000348634:E1058K	ENSP00000348634:E1058K	E	-	1	0	MYH6	22932040	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.855000	0.69510	2.391000	0.81399	0.557000	0.71058	GAG		0.517	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			37	88	0	0	0	1	0	37	88				
TRRAP	8295	broad.mit.edu	37	7	98563391	98563391	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:98563391G>A	ENST00000359863.4	+	48	7237	c.7028G>A	c.(7027-7029)cGg>cAg	p.R2343Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.R2325Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2325Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2343	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGGAGATGCGGAAGAACTTC	0.527																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(7027-7029)cGg>cAg		transformation/transcription domain-associated protein							117.0	101.0	107.0					7																	98563391		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98563391G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7028G>A	7.37:g.98563391G>A	ENSP00000352925:p.Arg2343Gln					TRRAP_ENST00000355540.3_Missense_Mutation_p.R2325Q|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2325Q	p.R2343Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		48	7237	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2343			Interaction with TP53.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.7028G>A	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.889430|5.889430	0.97068|0.97068	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.64438	.|-0.1;-0.1	6.02|6.02	6.02|6.02	0.97574|0.97574	.|Armadillo-like helical (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80691|0.80691	0.4671|0.4671	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;P;P	.|0.63877	.|0.919;0.797;0.898	T|T	0.81649|0.81649	-0.0837|-0.0837	5|10	.|0.87932	.|D	.|0	.|.	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2325;2064;2343	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	R|Q	2065|2343;2325;2324	.|ENSP00000352925:R2343Q;ENSP00000347733:R2325Q	.|ENSP00000347733:R2325Q	G|R	+|+	1|2	0|0	TRRAP|TRRAP	98401327|98401327	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	9.476000|9.476000	0.97823|0.97823	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.527	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		26	37	0	0	0	1	0	26	37				
TRIM36	55521	broad.mit.edu	37	5	114472733	114472733	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr5:114472733T>C	ENST00000282369.3	-	7	1331	c.1210A>G	c.(1210-1212)Aca>Gca	p.T404A	TRIM36_ENST00000514154.1_Missense_Mutation_p.T249A|TRIM36_ENST00000513154.1_Missense_Mutation_p.T392A	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	404	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGAAGTTCTGTTTGTTTAGAG	0.353																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(1174-1176)Aca>Gca		tripartite motif containing 36							58.0	62.0	61.0					5																	114472733		2202	4298	6500	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114472733T>C	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1210A>G	5.37:g.114472733T>C	ENSP00000282369:p.Thr404Ala					TRIM36_ENST00000514154.1_Missense_Mutation_p.T249A|TRIM36_ENST00000282369.3_Missense_Mutation_p.T404A	p.T392A			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	7	1500	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	404			COS.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.1174A>G	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	T	8.803	0.933402	0.18206	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.62498	0.69;0.81;0.02	5.49	2.95	0.34219	COS domain (1);	0.277928	0.41605	D	0.000853	T	0.28433	0.0703	N	0.03608	-0.345	0.80722	D	1	B;B	0.14805	0.011;0.009	B;B	0.15870	0.014;0.012	T	0.17319	-1.0373	10	0.09338	T	0.73	.	3.7515	0.08568	0.0:0.178:0.4578:0.3643	.	392;404	E9PFI8;Q9NQ86	.;TRI36_HUMAN	A	404;392;249	ENSP00000282369:T404A;ENSP00000423934:T392A;ENSP00000424259:T249A	ENSP00000282369:T404A	T	-	1	0	TRIM36	114500632	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.126000	0.50477	2.080000	0.62538	0.528000	0.53228	ACA		0.353	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		15	21	0	0	0	1	0	15	21				
ATP1A4	480	broad.mit.edu	37	1	160143991	160143991	+	Silent	SNP	C	C	T	rs573699765	byFrequency	TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:160143991C>T	ENST00000368081.4	+	14	2553	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	694					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			accctgagatcgtgtttgctc	0.527													C|||	2	0.000399361	0.0	0.0	5008	,	,		20619	0.0		0.0	False		,,,				2504	0.002					ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(2080-2082)atC>atT		ATPase, Na+/K+ transporting, alpha 4 polypeptide							123.0	110.0	115.0					1																	160143991		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160143991C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2082C>T	1.37:g.160143991C>T						ATP1A4_ENST00000418334.1_3'UTR	p.I694I	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		14	2553	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		694					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.2082C>T	CCDS1197.1																																																																																				0.527	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		24	35	0	0	0	1	0	24	35				
CACNA1H	8912	broad.mit.edu	37	16	1246017	1246017	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:1246017G>A	ENST00000348261.5	+	5	885	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V213M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V213M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	213					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CATCAACCGCGTGCCTAGTAA	0.652																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(637-639)Gtg>Atg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						41.0	49.0	47.0					16																	1246017		2016	4165	6181	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1246017G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.637G>A	16.37:g.1246017G>A	ENSP00000334198:p.Val213Met					CACNA1H_ENST00000565831.1_Missense_Mutation_p.V213M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V213M	p.V213M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			5	885	+		Hepatocellular(780;0.00369)	213					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.637G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447525	0.63178	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98649	-5.05;-5.05	4.23	4.23	0.50019	Ion transport (1);	0.149470	0.44688	N	0.000436	D	0.99080	0.9684	M	0.83774	2.66	0.40988	D	0.984831	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.99875	1.1103	10	0.87932	D	0	.	15.9489	0.79817	0.0:0.0:1.0:0.0	.	213;213	O95180-2;O95180	.;CAC1H_HUMAN	M	213	ENSP00000334198:V213M;ENSP00000351401:V213M	ENSP00000334198:V213M	V	+	1	0	CACNA1H	1186018	1.000000	0.71417	0.923000	0.36655	0.020000	0.10135	9.594000	0.98254	2.061000	0.61500	0.478000	0.44815	GTG		0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		43	17	0	0	0	1	0	43	17				
ZMYM3	9203	broad.mit.edu	37	X	70465837	70465837	+	Splice_Site	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:70465837G>A	ENST00000353904.2	-	16	2871	c.2684C>T	c.(2683-2685)cCg>cTg	p.P895L	ZMYM3_ENST00000314425.5_Splice_Site_p.P895L|ZMYM3_ENST00000373988.1_Splice_Site_p.P897L|ZMYM3_ENST00000373984.3_Splice_Site_p.P897L|ZMYM3_ENST00000373998.1_Splice_Site_p.P883L|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	895					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GAAACTCACCGGGATAGGCAT	0.582																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.e16+1		zinc finger, MYM-type 3							111.0	90.0	97.0					X																	70465837		2203	4300	6503	SO:0001630	splice_region_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70465837G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2685+1C>T	X.37:g.70465837G>A						ZMYM3_ENST00000353904.2_Splice_Site_p.P895_splice|ZMYM3_ENST00000373984.3_Splice_Site_p.P897_splice|ZMYM3_ENST00000314425.5_Splice_Site_p.P895_splice|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Splice_Site_p.P897_splice	p.P883_splice	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			16	3345	-	Renal(35;0.156)		895					D3DVV3|O15089|Q96E26	Splice_Site	SNP	ENST00000353904.2	37	c.2649_splice	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	25.8	4.675686	0.88445	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.64803	0.45;-0.12;0.45;0.41;0.45	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	T	0.78432	0.4282	M	0.78344	2.41	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.61940	0.896;0.791	T	0.81870	-0.0734	10	0.87932	D	0	-11.7455	17.7509	0.88434	0.0:0.0:1.0:0.0	.	883;895	Q14202-2;Q14202	.;ZMYM3_HUMAN	L	895;883;895;897;897	ENSP00000322845:P895L;ENSP00000363110:P883L;ENSP00000343909:P895L;ENSP00000363096:P897L;ENSP00000363100:P897L	ENSP00000322845:P895L	P	-	2	0	ZMYM3	70382562	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.198000	0.94994	2.380000	0.81148	0.525000	0.51046	CCG		0.582	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	Missense_Mutation	46	76	0	0	0	1	0	46	76				
ABCA4	24	broad.mit.edu	37	1	94544910	94544910	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:94544910C>A	ENST00000370225.3	-	9	1293	c.1207G>T	c.(1207-1209)Gat>Tat	p.D403Y	ABCA4_ENST00000535735.1_Missense_Mutation_p.D403Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	403					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCAGGTGAATCAGGAGTGTAC	0.493																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(1207-1209)Gat>Tat		ATP-binding cassette, sub-family A (ABC1), member 4							133.0	126.0	128.0					1																	94544910		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94544910C>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1207G>T	1.37:g.94544910C>A	ENSP00000359245:p.Asp403Tyr					ABCA4_ENST00000535735.1_Missense_Mutation_p.D403Y	p.D403Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	9	1293	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	403					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.1207G>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112687	0.56398	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.86366	-2.11;-2.11	5.36	3.48	0.39840	.	0.154190	0.56097	D	0.000031	D	0.89238	0.6658	M	0.80183	2.485	0.48452	D	0.999656	D;D	0.89917	1.0;0.985	D;P	0.80764	0.994;0.781	D	0.87125	0.2193	10	0.20046	T	0.44	.	11.0895	0.48108	0.0:0.7922:0.0:0.2078	.	403;403	F5H6E5;P78363	.;ABCA4_HUMAN	Y	403	ENSP00000359245:D403Y;ENSP00000437682:D403Y	ENSP00000359245:D403Y	D	-	1	0	ABCA4	94317498	0.989000	0.36119	0.806000	0.32338	0.788000	0.44548	2.858000	0.48356	0.825000	0.34637	0.561000	0.74099	GAT		0.493	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		34	48	1	0	4.74835e-14	1	5.25546e-14	34	48				
PITPNM2	57605	broad.mit.edu	37	12	123470771	123470771	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:123470771C>T	ENST00000542749.1	-	24	3916	c.3853G>A	c.(3853-3855)Gac>Aac	p.D1285N	PITPNM2_ENST00000280562.5_Missense_Mutation_p.D1279N|PITPNM2_ENST00000392428.1_Missense_Mutation_p.D1006N|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D1285N			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1285					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGCAGAAAGTCGCCCTGGCCG	0.731																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(3835-3837)Gac>Aac		phosphatidylinositol transfer protein, membrane-associated 2							7.0	8.0	7.0					12																	123470771		2112	4123	6235	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123470771C>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3853G>A	12.37:g.123470771C>T	ENSP00000437611:p.Asp1285Asn					PITPNM2_ENST00000542749.1_Missense_Mutation_p.D1285N|PITPNM2_ENST00000392428.1_Missense_Mutation_p.D1006N|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D1285N	p.D1279N			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	25	4040	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.3835G>A	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	35	5.479611	0.96307	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.46063	1.19;1.2;0.88;1.2	4.8	4.8	0.61643	.	0.125167	0.52532	D	0.000065	T	0.57592	0.2064	L	0.48986	1.54	0.80722	D	1	D;D	0.76494	0.999;0.984	D;P	0.66847	0.947;0.466	T	0.50825	-0.8782	10	0.30078	T	0.28	-50.2871	18.4084	0.90542	0.0:1.0:0.0:0.0	.	1279;1285	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	N	1279;1285;1006;1285	ENSP00000280562:D1279N;ENSP00000322218:D1285N;ENSP00000376223:D1006N;ENSP00000437611:D1285N	ENSP00000280562:D1279N	D	-	1	0	PITPNM2	122036724	1.000000	0.71417	0.996000	0.52242	0.854000	0.48673	7.415000	0.80131	2.664000	0.90586	0.561000	0.74099	GAC		0.731	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		6	9	0	0	0	1	0	6	9				
TNRC6A	27327	broad.mit.edu	37	16	24818089	24818089	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:24818089C>T	ENST00000395799.3	+	17	4653	c.4524C>T	c.(4522-4524)ttC>ttT	p.F1508F	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Silent_p.F1459F|TNRC6A_ENST00000432286.2_5'Flank	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1508					cellular response to starvation (GO:0009267)|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)|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)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TAAATGCTTTCAGCAACTTCC	0.502																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4522-4524)ttC>ttT		trinucleotide repeat containing 6A							125.0	107.0	113.0					16																	24818089		2197	4300	6497	SO:0001819	synonymous_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24818089C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4524C>T	16.37:g.24818089C>T						TNRC6A_ENST00000315183.7_Silent_p.F1459F|CTD-2515A14.1_ENST00000568895.1_RNA	p.F1508F	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	17	4653	+			1508					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	c.4524C>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	9.624	1.134719	0.21123	.	.	ENSG00000090905	ENST00000450465	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.8747	11.0573	0.47927	0.0:0.8635:0.0:0.1365	.	.	.	.	X	399	.	.	Q	+	1	0	TNRC6A	24725590	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.837000	0.48191	2.941000	0.99782	0.655000	0.94253	CAG		0.502	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		13	12	0	0	0	1	0	13	12				
CDC42BPG	55561	broad.mit.edu	37	11	64603681	64603681	+	Silent	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:64603681G>A	ENST00000342711.5	-	13	1575	c.1576C>T	c.(1576-1578)Cta>Tta	p.L526L		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GCCTCCTGTAGCCTCTGAAGC	0.701											OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(1576-1578)Cta>Tta		CDC42 binding protein kinase gamma (DMPK-like)							15.0	16.0	16.0					11																	64603681		2195	4289	6484	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64603681G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1576C>T	11.37:g.64603681G>A			OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077		p.L526L	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			13	1575	-			526						Silent	SNP	ENST00000342711.5	37	c.1576C>T	CCDS31601.1																																																																																				0.701	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		5	10	0	0	0	1	0	5	10				
TIAM2	26230	broad.mit.edu	37	6	155532355	155532355	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:155532355G>C	ENST00000461783.3	+	17	4355	c.3082G>C	c.(3082-3084)Gat>Cat	p.D1028H	TIAM2_ENST00000456144.1_Missense_Mutation_p.D1028H|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1028H|TIAM2_ENST00000456877.2_Missense_Mutation_p.D340H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1052H|TIAM2_ENST00000528391.2_Missense_Mutation_p.D364H|TIAM2_ENST00000367174.2_Missense_Mutation_p.D404H|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1028H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1028					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAACGTCCCTGATATCACAAC	0.433																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3082-3084)Gat>Cat		T-cell lymphoma invasion and metastasis 2							73.0	69.0	70.0					6																	155532355		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155532355G>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3082G>C	6.37:g.155532355G>C	ENSP00000437188:p.Asp1028His					TIAM2_ENST00000456877.2_Missense_Mutation_p.D340H|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1028H|TIAM2_ENST00000528391.2_Missense_Mutation_p.D364H|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1028H|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1028H|TIAM2_ENST00000367174.2_Missense_Mutation_p.D404H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1052H	p.D1028H			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	17	4355	+		Ovarian(120;0.196)	1028					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3082G>C	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916886	0.52546	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.06218	3.53;3.43;3.49;3.53;3.35;3.51;3.49;3.34;3.33	4.89	4.89	0.63831	.	0.460210	0.24547	N	0.037581	T	0.04588	0.0125	L	0.29908	0.895	0.38315	D	0.943375	P;P;P;P	0.46912	0.579;0.886;0.813;0.716	B;P;P;B	0.48166	0.372;0.569;0.569;0.366	T	0.52102	-0.8620	10	0.35671	T	0.21	.	16.2316	0.82347	0.0:0.0:1.0:0.0	.	364;1028;1052;1028	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	H	1028;1274;1028;1028;1028;404;1052;1028;340;364	ENSP00000437188:D1028H;ENSP00000434901:D1028H;ENSP00000407746:D1028H;ENSP00000327315:D1028H;ENSP00000356142:D404H;ENSP00000353528:D1052H;ENSP00000433348:D1028H;ENSP00000407183:D340H;ENSP00000435335:D364H	ENSP00000327315:D1028H	D	+	1	0	TIAM2	155574047	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	5.985000	0.70556	2.275000	0.75901	0.555000	0.69702	GAT		0.433	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		17	29	0	0	0	1	0	17	29				
ARID4A	5926	broad.mit.edu	37	14	58790207	58790207	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:58790207G>A	ENST00000355431.3	+	8	827	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	ARID4A_ENST00000395168.3_Missense_Mutation_p.E152K|ARID4A_ENST00000348476.3_Missense_Mutation_p.E152K|ARID4A_ENST00000431317.2_Missense_Mutation_p.E152K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	152					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						TTTTAGTACTGAAGATGAAAA	0.328																																						ENST00000355431.3																			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.(454-456)Gaa>Aaa		AT rich interactive domain 4A (RBP1-like)							87.0	84.0	85.0					14																	58790207		2203	4300	6503	SO:0001583	missense	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.chr14:58790207G>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.454G>A	14.37:g.58790207G>A	ENSP00000347602:p.Glu152Lys					ARID4A_ENST00000348476.3_Missense_Mutation_p.E152K|ARID4A_ENST00000395168.3_Missense_Mutation_p.E152K|ARID4A_ENST00000431317.2_Missense_Mutation_p.E152K	p.E152K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			8	827	+			152					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.454G>A	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132335	0.77662	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	T;T;T;T	0.16324	2.36;2.35;2.36;2.35	5.44	5.44	0.79542	.	0.187801	0.56097	D	0.000031	T	0.38506	0.1043	L	0.54323	1.7	0.58432	D	0.999999	D;P;P	0.71674	0.998;0.737;0.508	D;P;B	0.68621	0.959;0.512;0.372	T	0.01468	-1.1347	10	0.40728	T	0.16	-27.7779	19.6391	0.95749	0.0:0.0:1.0:0.0	.	152;152;152	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	K	152;152;152;115;152	ENSP00000347602:E152K;ENSP00000344556:E152K;ENSP00000378597:E152K;ENSP00000397368:E152K	ENSP00000344556:E152K	E	+	1	0	ARID4A	57859960	1.000000	0.71417	0.984000	0.44739	0.593000	0.36681	7.758000	0.85224	2.715000	0.92844	0.655000	0.94253	GAA		0.328	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		14	26	0	0	0	1	0	14	26				
AFAP1L2	84632	broad.mit.edu	37	10	116060050	116060050	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr10:116060050C>T	ENST00000304129.4	-	15	1889	c.1860G>A	c.(1858-1860)caG>caA	p.Q620Q	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Silent_p.Q673Q|AFAP1L2_ENST00000369271.3_Silent_p.Q620Q			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	620					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AGGAGATTCTCTGCTGTTCCG	0.597																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1858-1860)caG>caA		actin filament associated protein 1-like 2							128.0	138.0	134.0					10																	116060050		2203	4300	6503	SO:0001819	synonymous_variant	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116060050C>T	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1860G>A	10.37:g.116060050C>T						AFAP1L2_ENST00000545353.1_Silent_p.Q673Q|AFAP1L2_ENST00000304129.4_Silent_p.Q620Q|AFAP1L2_ENST00000491814.1_5'UTR	p.Q620Q	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	15	2160	-		Colorectal(252;0.175)|Breast(234;0.231)	620					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Silent	SNP	ENST00000304129.4	37	c.1860G>A	CCDS31286.1																																																																																				0.597	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		31	74	0	0	0	1	0	31	74				
LRRK2	120892	broad.mit.edu	37	12	40704287	40704287	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:40704287G>A	ENST00000298910.7	+	31	4430	c.4372G>A	c.(4372-4374)Gat>Aat	p.D1458N		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1458	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGATGTTTCTGATGAGAAGCA	0.478																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(4372-4374)Gat>Aat		leucine-rich repeat kinase 2							140.0	133.0	136.0					12																	40704287		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40704287G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4372G>A	12.37:g.40704287G>A	ENSP00000298910:p.Asp1458Asn						p.D1458N	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			31	4430	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1458			Roc.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.4372G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132149	0.56828	.	.	ENSG00000188906	ENST00000298910	T	0.80909	-1.43	5.63	5.63	0.86233	ROC GTPase (1);Small GTP-binding protein domain (1);	0.101677	0.64402	D	0.000003	T	0.70002	0.3174	L	0.31526	0.94	0.50632	D	0.999889	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.004	T	0.63528	-0.6617	10	0.17832	T	0.49	.	13.9066	0.63839	0.0726:0.0:0.9274:0.0	.	1458;1458	Q17RV3;Q5S007	.;LRRK2_HUMAN	N	1458	ENSP00000298910:D1458N	ENSP00000298910:D1458N	D	+	1	0	LRRK2	38990554	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.914000	0.63348	2.653000	0.90120	0.650000	0.86243	GAT		0.478	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		47	57	0	0	0	1	0	47	57				
PREX2	80243	broad.mit.edu	37	8	68956825	68956825	+	Splice_Site	SNP	G	G	A	rs184081186	byFrequency	TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr8:68956825G>A	ENST00000288368.4	+	8	1220	c.943G>A	c.(943-945)Gct>Act	p.A315T	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	315	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGATGGCACCGGTAAGTGATT	0.423													G|||	3	0.000599042	0.0	0.0	5008	,	,		16327	0.003		0.0	False		,,,				2504	0.0					ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.e8+1		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							132.0	125.0	127.0					8																	68956825		2203	4300	6503	SO:0001630	splice_region_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68956825G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.943+1G>A	8.37:g.68956825G>A						PREX2_ENST00000529398.1_3'UTR	p.A315_splice	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			8	1220	+			315			PH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Splice_Site	SNP	ENST00000288368.4	37	c.943_splice	CCDS6201.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	29.4	4.999423	0.93227	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.60797	0.16	5.53	5.53	0.82687	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	L	0.41710	1.295	0.80722	D	1	D;D;P	0.67145	0.994;0.996;0.945	D;D;P	0.63597	0.915;0.916;0.637	T	0.70085	-0.4969	10	0.62326	D	0.03	.	19.4691	0.94956	0.0:0.0:1.0:0.0	.	315;315;315	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	T	315	ENSP00000288368:A315T	ENSP00000288368:A315T	A	+	1	0	PREX2	69119379	1.000000	0.71417	0.991000	0.47740	0.530000	0.34684	9.797000	0.99108	2.613000	0.88420	0.591000	0.81541	GCT		0.423	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	Missense_Mutation	4	61	0	0	0	1	0	4	61				
PCLO	27445	broad.mit.edu	37	7	82584766	82584766	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:82584766C>G	ENST00000333891.9	-	5	5840	c.5503G>C	c.(5503-5505)Gat>Cat	p.D1835H	PCLO_ENST00000423517.2_Missense_Mutation_p.D1835H	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						GGAGATGCATCTTCAATGGGA	0.433																																						ENST00000423517.2																			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.(5503-5505)Gat>Cat		piccolo presynaptic cytomatrix protein							245.0	225.0	231.0					7																	82584766		1868	4112	5980	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584766C>G	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.5503G>C	7.37:g.82584766C>G	ENSP00000334319:p.Asp1835His					PCLO_ENST00000333891.8_Missense_Mutation_p.D1835H	p.D1835H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	5840	-			1766						Missense_Mutation	SNP	ENST00000333891.9	37	c.5503G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803024	0.31869	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.38240	1.15;1.17	5.33	5.33	0.75918	.	.	.	.	.	T	0.49847	0.1581	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.54139	-0.8338	9	0.87932	D	0	.	19.012	0.92877	0.0:1.0:0.0:0.0	.	1835;1835	Q9Y6V0-5;Q9Y6V0-6	.;.	H	1766;1835;1835	ENSP00000334319:D1835H;ENSP00000388393:D1835H	ENSP00000334319:D1835H	D	-	1	0	PCLO	82422702	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.792000	0.85828	2.502000	0.84385	0.655000	0.94253	GAT		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		69	116	0	0	0	1	0	69	116				
PBRM1	55193	broad.mit.edu	37	3	52668820	52668820	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:52668820C>A	ENST00000296302.7	-	11	1100	c.1099G>T	c.(1099-1101)Gaa>Taa	p.E367*	PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E335*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E367*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E367*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E367*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E367*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E367*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E367*			Q86U86	PB1_HUMAN	polybromo 1	367					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTCCCTCTTCATAGCGTGCA	0.368			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1003-1005)Gaa>Taa		polybromo 1							69.0	68.0	68.0					3																	52668820		2203	4300	6503	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52668820C>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1099G>T	3.37:g.52668820C>A	ENSP00000296302:p.Glu367*					PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E367*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E367*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E367*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E367*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E367*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E367*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.E367*	p.E335*			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	10	1005	-			367					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.1003G>T		.	.	.	.	.	.	.	.	.	.	C	38	6.995347	0.97990	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.89	5.89	0.94794	.	0.047898	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-32.3793	20.2566	0.98424	0.0:1.0:0.0:0.0	.	.	.	.	X	335;367;367;367;367;367;367;367;367;311	.	ENSP00000296302:E367X	E	-	1	0	PBRM1	52643860	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	2.793000	0.96121	0.561000	0.74099	GAA		0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		28	14	1	0	2.47511e-08	1	2.63703e-08	28	14				
PTX3	5806	broad.mit.edu	37	3	157154797	157154797	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:157154797C>T	ENST00000295927.3	+	1	220	c.75C>T	c.(73-75)ctC>ctT	p.L25L	VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	25					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ATTATGATCTCATGTATGTGA	0.448																																						ENST00000295927.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10						c.(73-75)ctC>ctT		pentraxin 3, long							247.0	223.0	231.0					3																	157154797		2203	4300	6503	SO:0001819	synonymous_variant	5806				inflammatory response	extracellular region		g.chr3:157154797C>T	X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.75C>T	3.37:g.157154797C>T						VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron	p.L25L	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		1	220	+			25					B2R6T6|Q38M82	Silent	SNP	ENST00000295927.3	37	c.75C>T	CCDS3180.1																																																																																				0.448	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852		34	71	0	0	0	1	0	34	71				
LUZP4	51213	broad.mit.edu	37	X	114537943	114537943	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:114537943C>T	ENST00000371920.3	+	3	309	c.302C>T	c.(301-303)tCt>tTt	p.S101F	LUZP4_ENST00000451986.2_Intron	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	101						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GGATTCAAGTCTGGACAACAC	0.333																																						ENST00000371920.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(301-303)tCt>tTt		leucine zipper protein 4							114.0	110.0	112.0					X																	114537943		2203	4300	6503	SO:0001583	missense	51213					nucleus		g.chrX:114537943C>T	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.302C>T	X.37:g.114537943C>T	ENSP00000360988:p.Ser101Phe					LUZP4_ENST00000451986.2_Intron	p.S101F	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN			3	309	+			101					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.302C>T	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304418	0.40795	.	.	ENSG00000102021	ENST00000371920	T	0.39787	1.06	3.2	0.31	0.15825	.	.	.	.	.	T	0.23133	0.0559	N	0.24115	0.695	0.09310	N	0.999998	P	0.35844	0.524	B	0.32465	0.146	T	0.15037	-1.0451	9	0.59425	D	0.04	.	3.0742	0.06241	0.0:0.4856:0.2293:0.2851	.	101	Q9P127	LUZP4_HUMAN	F	101	ENSP00000360988:S101F	ENSP00000360988:S101F	S	+	2	0	LUZP4	114444199	0.009000	0.17119	0.066000	0.19879	0.336000	0.28762	0.235000	0.17948	-0.048000	0.13401	0.513000	0.50165	TCT		0.333	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		51	105	0	0	0	1	0	51	105				
LRRC37A2	474170	broad.mit.edu	37	17	44626546	44626546	+	Silent	SNP	G	G	A	rs553579817	byFrequency	TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:44626546G>A	ENST00000576629.1	+	10	4536	c.4041G>A	c.(4039-4041)gcG>gcA	p.A1347A	ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_Silent_p.A1347A|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1347						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TCTCTGCAGCGAAGAGCCTCA	0.453													g|||	12	0.00239617	0.0	0.0	5008	,	,		22268	0.0109		0.0	False		,,,				2504	0.001					ENST00000576629.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15						c.(4039-4041)gcG>gcA		leucine rich repeat containing 37, member A2							18.0	30.0	26.0					17																	44626546		1988	4194	6182	SO:0001819	synonymous_variant	474170					integral to membrane		g.chr17:44626546G>A	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4041G>A	17.37:g.44626546G>A						ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_Silent_p.A1347A|ARL17A_ENST00000445552.2_Intron	p.A1347A			A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	10	4536	+		Melanoma(429;0.211)	1347					B7ZMC3	Silent	SNP	ENST00000576629.1	37	c.4041G>A	CCDS42353.1																																																																																				0.453	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		30	88	0	0	0	1	0	30	88				
ISY1	57461	broad.mit.edu	37	3	128853674	128853674	+	Splice_Site	SNP	C	C	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:128853674C>A	ENST00000393295.3	-	8	859		c.e8+1		ISY1_ENST00000273541.8_Splice_Site|ISY1-RAB43_ENST00000418265.1_Splice_Site|ISY1_ENST00000393292.3_Missense_Mutation_p.R181L|ISY1_ENST00000471497.1_Intron	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)						mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						CAGAGACCTACGTTTCTTTTC	0.388																																						ENST00000393292.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						c.(541-543)cGt>cTt		ISY1 splicing factor homolog (S. cerevisiae)							123.0	115.0	118.0					3																	128853674		1870	4116	5986	SO:0001630	splice_region_variant	57461							g.chr3:128853674C>A		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.541+1G>T	3.37:g.128853674C>A						ISY1_ENST00000393295.3_Splice_Site|ISY1_ENST00000273541.8_Splice_Site|ISY1-RAB43_ENST00000418265.1_Splice_Site|ISY1_ENST00000471497.1_Intron	p.R181L							8	603	-								Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	37	c.542G>T	CCDS43149.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.06|19.06	3.754764|3.754764	0.69648|0.69648	.|.	.|.	ENSG00000240682|ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163|ENST00000393292	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53514	.|0.1801	.|.	.|.	.|.	0.49798|0.49798	D|D	0.999823|0.999823	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.43572	.|-0.9383	.|5	.|0.13470	.|T	.|0.59	.|.	14.1518|14.1518	0.65389|0.65389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|L	-1|181	.|.	.|ENSP00000376970:R181L	.|R	-|-	.|2	.|0	ISY1|ISY1	130336364|130336364	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.822000|0.822000	0.46500|0.46500	6.484000|6.484000	0.73621|0.73621	2.466000|2.466000	0.83321|0.83321	0.467000|0.467000	0.42956|0.42956	.|CGT		0.388	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701	Intron	18	52	1	0	2.27731e-05	1	2.38177e-05	18	52				
RAI2	10742	broad.mit.edu	37	X	17818621	17818621	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:17818621T>G	ENST00000545871.1	-	3	1970	c.1510A>C	c.(1510-1512)Aag>Cag	p.K504Q	RAI2_ENST00000360011.1_Missense_Mutation_p.K504Q|RAI2_ENST00000415486.3_Missense_Mutation_p.K454Q|RAI2_ENST00000331511.1_Missense_Mutation_p.K504Q|RAI2_ENST00000451717.1_Missense_Mutation_p.K504Q	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	504					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TTCTTTAACTTTATGCTCCGG	0.438																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1510-1512)Aag>Cag		retinoic acid induced 2							273.0	289.0	284.0					X																	17818621		2203	4300	6503	SO:0001583	missense	10742				embryo development			g.chrX:17818621T>G	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1510A>C	X.37:g.17818621T>G	ENSP00000444210:p.Lys504Gln					RAI2_ENST00000451717.1_Missense_Mutation_p.K504Q|RAI2_ENST00000415486.3_Missense_Mutation_p.K454Q|RAI2_ENST00000360011.1_Missense_Mutation_p.K504Q|RAI2_ENST00000331511.1_Missense_Mutation_p.K504Q	p.K504Q	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN			3	1970	-	Hepatocellular(33;0.183)		504					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.1510A>C	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376979	0.61735	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.50001	0.79;0.79;0.79;0.79;0.76	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	L	0.36672	1.1	0.52099	D	0.99994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63157	-0.6700	10	0.87932	D	0	-26.8594	14.3039	0.66373	0.0:0.0:0.0:1.0	.	454;504	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	Q	504;504;504;504;454	ENSP00000333456:K504Q;ENSP00000353106:K504Q;ENSP00000444210:K504Q;ENSP00000401323:K504Q;ENSP00000392578:K454Q	ENSP00000333456:K504Q	K	-	1	0	RAI2	17728542	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.301000	0.78850	1.954000	0.56735	0.486000	0.48141	AAG		0.438	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		199	320	0	0	0	1	0	199	320				
TFIP11	24144	broad.mit.edu	37	22	26892128	26892128	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:26892128G>A	ENST00000407690.1	-	12	2043	c.1760C>T	c.(1759-1761)tCt>tTt	p.S587F	TFIP11_ENST00000407148.1_Missense_Mutation_p.S587F|TFIP11_ENST00000407431.1_Missense_Mutation_p.S587F|TFIP11_ENST00000405938.1_Missense_Mutation_p.S587F	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	587					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GAGCTTGGCAGAGGAGTCGCT	0.577																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1759-1761)tCt>tTt		tuftelin interacting protein 11							102.0	107.0	105.0					22																	26892128		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26892128G>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1760C>T	22.37:g.26892128G>A	ENSP00000384421:p.Ser587Phe					TFIP11_ENST00000407431.1_Missense_Mutation_p.S587F|TFIP11_ENST00000405938.1_Missense_Mutation_p.S587F|TFIP11_ENST00000407148.1_Missense_Mutation_p.S587F	p.S587F	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			12	2043	-			587					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.1760C>T	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975421	0.92919	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.39	5.39	0.77823	GC-rich sequence DNA-binding factor domain (1);	0.000000	0.85682	D	0.000000	T	0.79028	0.4377	M	0.91768	3.24	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.81818	-0.0758	10	0.51188	T	0.08	-15.6574	18.333	0.90277	0.0:0.0:1.0:0.0	.	587	Q9UBB9	TFP11_HUMAN	F	587;587;587;272;587	ENSP00000384421:S587F;ENSP00000383892:S587F;ENSP00000385861:S587F;ENSP00000384297:S587F	ENSP00000384297:S587F	S	-	2	0	TFIP11	25222128	1.000000	0.71417	0.951000	0.38953	0.988000	0.76386	9.300000	0.96151	2.804000	0.96469	0.655000	0.94253	TCT		0.577	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		64	89	0	0	0	1	0	64	89				
EIF5B	9669	broad.mit.edu	37	2	100009551	100009551	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:100009551C>T	ENST00000289371.6	+	18	3072	c.2870C>T	c.(2869-2871)cCt>cTt	p.P957L		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	957					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATGAAATCCCTGTTCTTAAA	0.393																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2869-2871)cCt>cTt		eukaryotic translation initiation factor 5B							78.0	81.0	80.0					2																	100009551		1798	4074	5872	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:100009551C>T	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2870C>T	2.37:g.100009551C>T	ENSP00000289371:p.Pro957Leu						p.P957L	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			18	3072	+			957					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.2870C>T	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922310	0.73213	.	.	ENSG00000158417	ENST00000289371	T	0.42513	0.97	5.84	5.84	0.93424	Translation initiation factor IF- 2, domain 3 (1);	.	.	.	.	T	0.40094	0.1103	L	0.43152	1.355	0.80722	D	1	B	0.22003	0.063	B	0.22386	0.039	T	0.12708	-1.0537	8	.	.	.	-7.5885	20.139	0.98050	0.0:1.0:0.0:0.0	.	957	O60841	IF2P_HUMAN	L	957	ENSP00000289371:P957L	.	P	+	2	0	EIF5B	99375983	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.743000	0.85020	2.764000	0.94973	0.655000	0.94253	CCT		0.393	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		11	26	0	0	0	1	0	11	26				
CNOT3	4849	broad.mit.edu	37	19	54656965	54656965	+	Intron	SNP	G	G	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:54656965G>T	ENST00000406403.1	+	15	3640				CNOT3_ENST00000221232.5_Intron|CNOT3_ENST00000358389.3_Silent_p.L514L|CNOT3_ENST00000496327.1_Intron			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGGTCCACTGAGGCACACCT	0.677																																						ENST00000358389.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(1540-1542)ctG>ctT		CCR4-NOT transcription complex, subunit 3							30.0	30.0	30.0					19																	54656965		876	1991	2867	SO:0001627	intron_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54656965G>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2037+229G>T	19.37:g.54656965G>T						CNOT3_ENST00000496327.1_Intron|CNOT3_ENST00000406403.1_Intron|CNOT3_ENST00000221232.5_Intron	p.L514L			O75175	CNOT3_HUMAN			17	2396	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		321			Pro-rich.		Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	37	c.1542G>T	CCDS12880.1																																																																																				0.677	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		16	26	1	0	5.03518e-11	1	5.4152e-11	16	26				
PPP1CB	5500	broad.mit.edu	37	2	29011670	29011670	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:29011670C>T	ENST00000395366.2	+	6	1011	c.739C>T	c.(739-741)Cat>Tat	p.H247Y	PPP1CB_ENST00000358506.2_Missense_Mutation_p.H247Y|SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000296122.6_Missense_Mutation_p.H247Y	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	247					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTGTCGAGCTCATCAGGTATG	0.398																																						ENST00000395366.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(739-741)Cat>Tat		protein phosphatase 1, catalytic subunit, beta isozyme							91.0	85.0	87.0					2																	29011670		2203	4300	6503	SO:0001583	missense	5500				cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding	g.chr2:29011670C>T		CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9282	protein-coding gene	gene with protein product		600590	"""protein phosphatase 1, catalytic subunit, beta isoform"""			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.739C>T	2.37:g.29011670C>T	ENSP00000378769:p.His247Tyr					PPP1CB_ENST00000358506.2_Missense_Mutation_p.H247Y|PPP1CB_ENST00000296122.6_Missense_Mutation_p.H247Y|SPDYA_ENST00000462832.1_3'UTR	p.H247Y	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN			6	1011	+	Acute lymphoblastic leukemia(172;0.155)		247					B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	ENST00000395366.2	37	c.739C>T	CCDS33169.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920919	0.92249	.	.	ENSG00000213639	ENST00000358506;ENST00000296122;ENST00000395366	D;D;D	0.99466	-5.95;-5.95;-5.95	5.48	5.48	0.80851	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	H	0.99994	5.395	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.95870	0.8890	10	0.87932	D	0	-16.0692	19.7147	0.96110	0.0:1.0:0.0:0.0	.	247	P62140	PP1B_HUMAN	Y	247	ENSP00000351298:H247Y;ENSP00000296122:H247Y;ENSP00000378769:H247Y	ENSP00000296122:H247Y	H	+	1	0	PPP1CB	28865174	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.776000	0.85560	2.732000	0.93576	0.591000	0.81541	CAT		0.398	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1			15	31	0	0	0	1	0	15	31				
KIF4B	285643	broad.mit.edu	37	5	154393830	154393830	+	Silent	SNP	A	A	G			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr5:154393830A>G	ENST00000435029.4	+	1	571	c.411A>G	c.(409-411)aaA>aaG	p.K137K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	137	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTACTCTGAAAGTGTCTTACT	0.373																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(409-411)aaA>aaG		kinesin family member 4B							97.0	102.0	101.0					5																	154393830		2202	4300	6502	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393830A>G	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.411A>G	5.37:g.154393830A>G							p.K137K	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	571	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	137			Kinesin-motor.			Silent	SNP	ENST00000435029.4	37	c.411A>G	CCDS47324.1																																																																																				0.373	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			52	52	0	0	0	1	0	52	52				
SLC32A1	140679	broad.mit.edu	37	20	37356570	37356570	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:37356570C>T	ENST00000217420.1	+	2	1129	c.866C>T	c.(865-867)gCg>gTg	p.A289V		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	289					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTATCGCGGGCGCGCGACTGG	0.527																																						ENST00000217420.1																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(865-867)gCg>gTg		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						75.0	57.0	63.0					20																	37356570		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356570C>T	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.866C>T	20.37:g.37356570C>T	ENSP00000217420:p.Ala289Val						p.A289V	NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN			2	1129	+		Myeloproliferative disorder(115;0.00878)	289					Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.866C>T	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	8.101	0.776641	0.16120	.	.	ENSG00000101438	ENST00000217420	T	0.02345	4.33	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.03477	0.0100	L	0.42245	1.32	0.80722	D	1	P	0.42584	0.784	B	0.38458	0.274	T	0.61023	-0.7146	10	0.15499	T	0.54	-17.9732	15.5475	0.76118	0.0:1.0:0.0:0.0	.	289	Q9H598	VIAAT_HUMAN	V	289	ENSP00000217420:A289V	ENSP00000217420:A289V	A	+	2	0	SLC32A1	36789984	1.000000	0.71417	0.989000	0.46669	0.047000	0.14425	7.756000	0.85195	2.358000	0.79984	0.462000	0.41574	GCG		0.527	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		3	33	0	0	0	1	0	3	33				
KCNH7	90134	broad.mit.edu	37	2	163374320	163374320	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:163374320C>T	ENST00000332142.5	-	4	911	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.R271Q|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	271					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGATGCTCTCCGTATACTACA	0.468																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(811-813)cGg>cAg		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						117.0	105.0	109.0					2																	163374320		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163374320C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.812G>A	2.37:g.163374320C>T	ENSP00000331727:p.Arg271Gln					KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R271Q	p.R271Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			4	911	-			271					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.812G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	35	5.556750	0.96514	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99113	-5.44;-5.44	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	L	0.49126	1.545	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.941	D	0.99844	1.1064	10	0.44086	T	0.13	.	20.2556	0.98417	0.0:1.0:0.0:0.0	.	271;271	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Q	271	ENSP00000331727:R271Q;ENSP00000333781:R271Q	ENSP00000333781:R271Q	R	-	2	0	KCNH7	163082566	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.273000	0.78527	2.791000	0.96007	0.655000	0.94253	CGG		0.468	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		21	42	0	0	0	1	0	21	42				
CRB1	23418	broad.mit.edu	37	1	197398707	197398707	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:197398707C>T	ENST00000367400.3	+	8	2940	c.2805C>T	c.(2803-2805)caC>caT	p.H935H	CRB1_ENST00000535699.1_Silent_p.H911H|CRB1_ENST00000544212.1_Silent_p.H416H|CRB1_ENST00000367397.1_Silent_p.H316H|CRB1_ENST00000367399.2_Silent_p.H823H|CRB1_ENST00000538660.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	935	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H935Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGTGTCCTCACGGAGCCCAGT	0.532																																						ENST00000367397.1																			1	Substitution - Missense(1)	p.H935Q(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(946-948)caC>caT		crumbs homolog 1 (Drosophila)							111.0	95.0	100.0					1																	197398707		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197398707C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2805C>T	1.37:g.197398707C>T						CRB1_ENST00000535699.1_Silent_p.H911H|CRB1_ENST00000367400.3_Silent_p.H935H|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Silent_p.H823H|CRB1_ENST00000544212.1_Silent_p.H416H	p.H316H			P82279	CRUM1_HUMAN			4	1806	+			935			EGF-like 8.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.948C>T	CCDS1390.1																																																																																				0.532	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		29	29	0	0	0	1	0	29	29				
MET	4233	broad.mit.edu	37	7	116340200	116340200	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:116340200C>T	ENST00000318493.6	+	2	1249	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	MET_ENST00000397752.3_Silent_p.A354A|MET_ENST00000436117.2_Silent_p.A354A			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAGATTCTGCCGAACCAATGG	0.473			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1060-1062)gcC>gcT		met proto-oncogene							73.0	69.0	71.0					7																	116340200		1958	4154	6112	SO:0001819	synonymous_variant	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116340200C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1062C>T	7.37:g.116340200C>T						MET_ENST00000436117.2_Silent_p.A354A|MET_ENST00000318493.6_Silent_p.A354A	p.A354A	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	1262	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	354			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.1062C>T	CCDS47689.1																																																																																				0.473	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			13	27	0	0	0	1	0	13	27				
OR4D5	219875	broad.mit.edu	37	11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A	rs564572858		TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:123811134G>A	ENST00000307033.2	+	1	885	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V271I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		22065	0.0		0.0	False		,,,				2504	0.001					ENST00000307033.2																			1	Substitution - Missense(1)	p.V271I(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(811-813)Gtc>Atc		olfactory receptor, family 4, subfamily D, member 5							161.0	131.0	141.0					11																	123811134		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811134G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.811G>A	11.37:g.123811134G>A	ENSP00000305970:p.Val271Ile						p.V271I	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	885	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	271					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.811G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	8.169	0.791230	0.16258	.	.	ENSG00000171014	ENST00000307033	T	0.36878	1.23	5.49	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000538	T	0.25344	0.0616	L	0.37850	1.14	0.09310	N	1	B	0.14438	0.01	B	0.24006	0.05	T	0.16394	-1.0404	10	0.29301	T	0.29	-13.4657	7.0729	0.25189	0.1492:0.2545:0.5963:0.0	.	271	Q8NGN0	OR4D5_HUMAN	I	271	ENSP00000305970:V271I	ENSP00000305970:V271I	V	+	1	0	OR4D5	123316344	0.000000	0.05858	0.168000	0.22838	0.830000	0.47004	0.194000	0.17135	0.658000	0.30925	0.650000	0.86243	GTC		0.493	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		35	72	0	0	0	1	0	35	72				
ARHGAP9	64333	broad.mit.edu	37	12	57869285	57869285	+	Silent	SNP	G	G	C			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:57869285G>C	ENST00000356411.2	-	11	1620	c.1482C>G	c.(1480-1482)ctC>ctG	p.L494L	ARHGAP9_ENST00000393791.3_Silent_p.L475L|ARHGAP9_ENST00000393797.2_Silent_p.L565L|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000550288.1_Silent_p.L554L|ARHGAP9_ENST00000424809.2_Silent_p.L475L|ARHGAP9_ENST00000430041.2_Silent_p.L291L			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	494	Lipid binding.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGCGGCTGCTGAGGCGCAGCA	0.731																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(1693-1695)ctC>ctG		Rho GTPase activating protein 9							8.0	10.0	9.0					12																	57869285		2176	4264	6440	SO:0001819	synonymous_variant	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57869285G>C	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1482C>G	12.37:g.57869285G>C						ARHGAP9_ENST00000356411.2_Silent_p.L494L|ARHGAP9_ENST00000430041.2_Silent_p.L291L|ARHGAP9_ENST00000393791.3_Silent_p.L475L|ARHGAP9_ENST00000550288.1_Silent_p.L554L|ARHGAP9_ENST00000424809.2_Silent_p.L475L	p.L565L			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		14	1887	-			494			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	37	c.1695C>G																																																																																					0.731	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		6	12	0	0	0	1	0	6	12				
DCHS1	8642	broad.mit.edu	37	11	6661790	6661790	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:6661790A>G	ENST00000299441.3	-	2	1466	c.1055T>C	c.(1054-1056)gTg>gCg	p.V352A		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	352	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCATCTCGCACATGCACAGT	0.597																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(1054-1056)gTg>gCg		dachsous cadherin-related 1							115.0	114.0	114.0					11																	6661790		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661790A>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1055T>C	11.37:g.6661790A>G	ENSP00000299441:p.Val352Ala						p.V352A	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1466	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	352			Cadherin 3.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.1055T>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.855778	0.71834	.	.	ENSG00000166341	ENST00000299441	T	0.68181	-0.31	5.4	5.4	0.78164	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.40818	N	0.001018	D	0.85961	0.5819	M	0.93678	3.445	0.58432	D	0.999997	D	0.58620	0.983	D	0.78314	0.991	D	0.89615	0.3844	10	0.87932	D	0	.	14.6127	0.68526	1.0:0.0:0.0:0.0	.	352	Q96JQ0	PCD16_HUMAN	A	352	ENSP00000299441:V352A	ENSP00000299441:V352A	V	-	2	0	DCHS1	6618366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.297000	0.96120	2.032000	0.59987	0.519000	0.50382	GTG		0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		49	92	0	0	0	1	0	49	92				
FCGR2A	2212	broad.mit.edu	37	1	161480678	161480678	+	Missense_Mutation	SNP	C	C	T	rs199502630	byFrequency	TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:161480678C>T	ENST00000271450.6	+	5	712	c.674C>T	c.(673-675)gCg>gTg	p.A225V	FCGR2A_ENST00000367972.4_Missense_Mutation_p.A224V|RP11-25K21.6_ENST00000537821.2_RNA	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	225					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTGGTCATTGCGACTGCTGTA	0.502													C|||	2	0.000399361	0.0	0.0	5008	,	,		18965	0.002		0.0	False		,,,				2504	0.0					ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(673-675)gCg>gTg		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						219.0	220.0	220.0					1																	161480678		2203	4300	6503	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161480678C>T	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.674C>T	1.37:g.161480678C>T	ENSP00000271450:p.Ala225Val					FCGR2A_ENST00000367972.4_Missense_Mutation_p.A224V|FCGR2A_ENST00000467525.1_3'UTR	p.A225V	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	712	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		225					Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.674C>T	CCDS44264.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	1.001	-0.690893	0.03303	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.01767	4.65;4.65	2.27	0.296	0.15757	.	41.235800	0.00357	N	0.000031	T	0.00384	0.0012	N	0.08118	0	0.20638	N	0.999879	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.47235	-0.9133	9	0.20046	T	0.44	.	4.6527	0.12603	0.0:0.2484:0.5003:0.2512	.	225;224	P12318;P12318-2	FCG2A_HUMAN;.	V	224;225	ENSP00000356949:A224V;ENSP00000271450:A225V	ENSP00000271450:A225V	A	+	2	0	FCGR2A	159747302	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.043000	0.13971	0.070000	0.16634	-0.228000	0.12330	GCG		0.502	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		80	99	0	0	0	1	0	80	99				
MTCL1	23255	broad.mit.edu	37	18	8828905	8828905	+	Splice_Site	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:8828905G>A	ENST00000306329.11	+	14	5679		c.e14-1		SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000359865.3_Splice_Site|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000400050.3_Splice_Site|SOGA2_ENST00000517570.1_Splice_Site																							GTTCTGTCCAGAACCAAACTG	0.483																																						ENST00000359865.3																			0											c.e16-1		SOGA family member 2							117.0	99.0	105.0					18																	8828905		2203	4300	6503	SO:0001630	splice_region_variant	23255							g.chr18:8828905G>A																												ENST00000306329.11:c.5680-1G>A	18.37:g.8828905G>A						SOGA2_ENST00000306329.11_Splice_Site|SOGA2_ENST00000517570.1_Splice_Site|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Splice_Site|SOGA2_ENST00000306285.7_Intron		NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			16	4864	+									Splice_Site	SNP	ENST00000306329.11	37			.	.	.	.	.	.	.	.	.	.	G	29.4	5.000876	0.93227	.	.	ENSG00000168502	ENST00000517570;ENST00000359865;ENST00000400050	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3473	0.98799	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC165	8818905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.568000	0.98166	2.884000	0.98904	0.655000	0.94253	.		0.483	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1		Intron	24	47	0	0	0	1	0	24	47				
PAK7	57144	broad.mit.edu	37	20	9546591	9546591	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:9546591C>T	ENST00000378429.3	-	6	1977	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V	PAK7_ENST00000378423.1_Silent_p.V477V|PAK7_ENST00000353224.5_Silent_p.V477V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	477	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCATTTTCTTCACTGCAACTT	0.458																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1429-1431)gtG>gtA		p21 protein (Cdc42/Rac)-activated kinase 7							283.0	259.0	267.0					20																	9546591		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546591C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1431G>A	20.37:g.9546591C>T						PAK7_ENST00000378423.1_Silent_p.V477V|PAK7_ENST00000353224.5_Silent_p.V477V	p.V477V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1977	-			477			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.1431G>A	CCDS13107.1																																																																																				0.458	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			53	83	0	0	0	1	0	53	83				
SNX25	83891	broad.mit.edu	37	4	186168522	186168522	+	Silent	SNP	T	T	G			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr4:186168522T>G	ENST00000504273.1	+	2	306	c.12T>G	c.(10-12)gcT>gcG	p.A4A	SNX25_ENST00000264694.8_Silent_p.A4A			Q9H3E2	SNX25_HUMAN	sorting nexin 25	4	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TGGATAAAGCTCTGAAAGAAG	0.308																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(10-12)gcT>gcG		sorting nexin 25							120.0	135.0	130.0					4																	186168522		2203	4299	6502	SO:0001819	synonymous_variant	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186168522T>G	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.12T>G	4.37:g.186168522T>G						SNX25_ENST00000264694.8_Silent_p.A4A	p.A4A			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	2	306	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	4			PXA.		Q3ZT30|Q8N6K3	Silent	SNP	ENST00000504273.1	37	c.12T>G	CCDS34116.1																																																																																				0.308	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		7	78	0	0	0	1	0	7	78				
MIA3	375056	broad.mit.edu	37	1	222802495	222802495	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:222802495G>A	ENST00000344922.5	+	4	1958	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.E645K	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	645					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAGAGAACTGGAAGACGAGGT	0.448																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(1933-1935)Gaa>Aaa		melanoma inhibitory activity family, member 3							99.0	98.0	98.0					1																	222802495		1842	4104	5946	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222802495G>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1933G>A	1.37:g.222802495G>A	ENSP00000340900:p.Glu645Lys					MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.E645K	p.E645K	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	1958	+			645					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.1933G>A	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.804|7.804	0.714244|0.714244	0.15306|0.15306	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.05025|.	3.51;3.51|.	4.48|4.48	1.5|1.5	0.22942|0.22942	.|.	.|.	.|.	.|.	.|.	T|T	0.26846|0.26846	0.0657|0.0657	N|N	0.13235|0.13235	0.315|0.315	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.12156|.	0.007;0.002|.	T|T	0.22591|0.22591	-1.0212|-1.0212	9|5	0.08837|.	T|.	0.75|.	.|.	11.2644|11.2644	0.49101|0.49101	0.2993:0.0:0.7007:0.0|0.2993:0.0:0.7007:0.0	.|.	645;645|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	K|E	645|227	ENSP00000340900:E645K;ENSP00000340587:E645K|.	ENSP00000325973:E645K|.	E|G	+|+	1|2	0|0	MIA3|MIA3	220869118|220869118	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.109000|0.109000	0.19521|0.19521	-0.114000|-0.114000	0.10757|0.10757	-0.125000|-0.125000	0.11703|0.11703	-1.786000|-1.786000	0.00637|0.00637	GAA|GGA		0.448	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		57	71	0	0	0	1	0	57	71				
KCNK1	3775	broad.mit.edu	37	1	233807161	233807161	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:233807161T>G	ENST00000366621.3	+	3	1064	c.896T>G	c.(895-897)cTg>cGg	p.L299R	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.L183R	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	299					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CATGACCAACTGTCCTTCTCC	0.488																																						ENST00000366621.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(895-897)cTg>cGg		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)						90.0	82.0	85.0					1																	233807161		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233807161T>G	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.896T>G	1.37:g.233807161T>G	ENSP00000355580:p.Leu299Arg					KCNK1_ENST00000366620.1_Missense_Mutation_p.L183R|KCNK1_ENST00000472190.1_3'UTR	p.L299R	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN			3	1064	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	299					Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.896T>G	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306728	0.81247	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;T;T	0.15139	3.05;2.71;2.45	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	L	0.34521	1.04	0.54753	D	0.999985	B	0.34329	0.449	B	0.42030	0.373	T	0.04386	-1.0955	10	0.27082	T	0.32	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	299	O00180	KCNK1_HUMAN	R	299;183;217	ENSP00000355580:L299R;ENSP00000355579:L183R;ENSP00000409626:L217R	ENSP00000355579:L183R	L	+	2	0	KCNK1	231873784	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.723000	0.68492	2.308000	0.77769	0.533000	0.62120	CTG		0.488	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		16	34	0	0	0	1	0	16	34				
PITX1	5307	broad.mit.edu	37	5	134365003	134365003	+	Silent	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr5:134365003G>A	ENST00000265340.7	-	3	827	c.411C>T	c.(409-411)ttC>ttT	p.F137F	PITX1_ENST00000506438.1_Silent_p.F137F	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	137					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|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)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GCCGGTTCTTGAACCAGACCT	0.701																																						ENST00000265340.7																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14						c.(409-411)ttC>ttT		paired-like homeodomain 1							34.0	40.0	38.0					5																	134365003		2198	4290	6488	SO:0001819	synonymous_variant	5307					nucleolus	sequence-specific DNA binding	g.chr5:134365003G>A	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.411C>T	5.37:g.134365003G>A						PITX1_ENST00000506438.1_Silent_p.F137F	p.F137F	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	3	827	-			137					A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Silent	SNP	ENST00000265340.7	37	c.411C>T	CCDS4182.1	.	.	.	.	.	.	.	.	.	.	G	9.504	1.104078	0.20632	.	.	ENSG00000069011	ENST00000503586	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	T	0.71273	0.3320	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71632	-0.4534	4	.	.	.	.	15.9198	0.79552	0.0:0.0:1.0:0.0	.	.	.	.	L	178	.	.	S	-	2	0	PITX1	134392902	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.717000	0.47227	1.984000	0.57885	0.313000	0.20887	TCA		0.701	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			38	53	0	0	0	1	0	38	53				
DNM1P47	100216544	broad.mit.edu	37	15	102294702	102294702	+	RNA	SNP	C	C	T	rs200684867	byFrequency	TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr15:102294702C>T	ENST00000561463.1	+	0	2748									DNM1 pseudogene 47																		GAGGCGTCGGCAGAGCAGGCA	0.607																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102294702C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294702C>T														0	2748	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.607	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		6	10	0	0	0	1	0	6	10				
GALNS	2588	broad.mit.edu	37	16	88902658	88902658	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:88902658G>A	ENST00000268695.5	-	6	672	c.584C>T	c.(583-585)cCt>cTt	p.P195L	GALNS_ENST00000542788.1_Missense_Mutation_p.P120L	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	195	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		CAGATTAATAGGAAATTCTTC	0.512																																					GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22						c.(583-585)cCt>cTt		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						61.0	61.0	61.0					16																	88902658		2198	4297	6495	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88902658G>A	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.584C>T	16.37:g.88902658G>A	ENSP00000268695:p.Pro195Leu					GALNS_ENST00000542788.1_Missense_Mutation_p.P120L	p.P195L	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	6	672	-			195					Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.584C>T	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	g	11.14	1.549785	0.27652	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.92965	-3.14;-3.14	5.4	5.4	0.78164	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.697673	0.14655	N	0.306368	D	0.83626	0.5295	N	0.10809	0.05	0.47245	D	0.999369	B;B	0.12630	0.006;0.005	B;B	0.14023	0.01;0.006	T	0.77613	-0.2522	10	0.30078	T	0.28	.	12.3236	0.54999	0.0:0.0:0.7142:0.2858	.	195;195	B2R6P1;P34059	.;GALNS_HUMAN	L	195;120	ENSP00000268695:P195L;ENSP00000438197:P120L	ENSP00000268695:P195L	P	-	2	0	GALNS	87430159	1.000000	0.71417	0.950000	0.38849	0.033000	0.12548	5.289000	0.65656	2.531000	0.85337	0.506000	0.49869	CCT		0.512	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			11	12	0	0	0	1	0	11	12				
ZNF862	643641	broad.mit.edu	37	7	149557915	149557915	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:149557915G>C	ENST00000223210.4	+	7	1911	c.1666G>C	c.(1666-1668)Gag>Cag	p.E556Q	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	556					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(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GGCCAACATGGAGCACTTTTT	0.537																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(1666-1668)Gag>Cag		zinc finger protein 862							64.0	67.0	66.0					7																	149557915		2090	4217	6307	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149557915G>C	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.1666G>C	7.37:g.149557915G>C	ENSP00000223210:p.Glu556Gln						p.E556Q	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	1911	+			556					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.1666G>C	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235693	0.58886	.	.	ENSG00000106479	ENST00000223210	T	0.01145	5.27	4.98	4.98	0.66077	.	0.000000	0.53938	D	0.000046	T	0.04543	0.0124	M	0.77103	2.36	0.30070	N	0.81011	D	0.64830	0.994	P	0.55055	0.767	T	0.06144	-1.0843	10	0.38643	T	0.18	-39.0675	13.7753	0.63050	0.0:0.0:1.0:0.0	.	556	O60290	ZN862_HUMAN	Q	556	ENSP00000223210:E556Q	ENSP00000223210:E556Q	E	+	1	0	ZNF862	149188848	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.908000	0.56355	2.320000	0.78422	0.655000	0.94253	GAG		0.537	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		23	47	0	0	0	1	0	23	47				
RNF20	56254	broad.mit.edu	37	9	104312897	104312897	+	Missense_Mutation	SNP	C	C	T	rs372304320		TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr9:104312897C>T	ENST00000389120.3	+	10	1192	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	368					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R368W(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GGTGGAATTGCGGAGTGCAGT	0.468																																						ENST00000389120.3																			1	Substitution - Missense(1)	p.R368W(1)	kidney(1)	breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1102-1104)Cgg>Tgg		ring finger protein 20, E3 ubiquitin protein ligase		C	TRP/ARG	0,4406		0,0,2203	157.0	152.0	154.0		1102	5.0	1.0	9		154	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNF20	NM_019592.5	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	368/976	104312897	1,13005	2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104312897C>T	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1102C>T	9.37:g.104312897C>T	ENSP00000373772:p.Arg368Trp						p.R368W	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	10	1192	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	368					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1102C>T	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216353	0.58452	0.0	1.16E-4	ENSG00000155827	ENST00000389120	T	0.33865	1.39	5.92	4.99	0.66335	.	0.250465	0.41001	D	0.000966	T	0.31796	0.0808	L	0.49126	1.545	0.40626	D	0.981816	D	0.63880	0.993	B	0.41135	0.348	T	0.21552	-1.0242	10	0.87932	D	0	-17.2616	10.4537	0.44537	0.256:0.6176:0.1264:0.0	.	368	Q5VTR2	BRE1A_HUMAN	W	368	ENSP00000373772:R368W	ENSP00000373772:R368W	R	+	1	2	RNF20	103352718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.192000	0.32150	2.810000	0.96702	0.650000	0.86243	CGG		0.468	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		4	179	0	0	0	1	0	4	179				
EYA4	2070	broad.mit.edu	37	6	133802609	133802609	+	Missense_Mutation	SNP	G	G	A	rs144415484		TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:133802609G>A	ENST00000367895.5	+	12	1443	c.979G>A	c.(979-981)Gat>Aat	p.D327N	EYA4_ENST00000355167.3_Missense_Mutation_p.D327N|EYA4_ENST00000355286.6_Missense_Mutation_p.D304N|EYA4_ENST00000430974.2_Missense_Mutation_p.D279N|EYA4_ENST00000525849.1_Missense_Mutation_p.D304N|EYA4_ENST00000531901.1_Missense_Mutation_p.D333N|EYA4_ENST00000431403.2_Missense_Mutation_p.D327N|EYA4_ENST00000452339.2_Missense_Mutation_p.D273N	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	327					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGGAGAGTTCGATACCATGCA	0.388																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(979-981)Gat>Aat		eyes absent homolog 4 (Drosophila)		G	ASN/ASP,ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	116.0	120.0	119.0		979,910,979	5.7	1.0	6	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	EYA4	NM_004100.4,NM_172103.3,NM_172105.3	23,23,23	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	327/640,304/617,327/640	133802609	2,13004	2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133802609G>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.979G>A	6.37:g.133802609G>A	ENSP00000356870:p.Asp327Asn					EYA4_ENST00000431403.2_Missense_Mutation_p.D327N|EYA4_ENST00000430974.2_Missense_Mutation_p.D279N|EYA4_ENST00000355167.3_Missense_Mutation_p.D327N|EYA4_ENST00000531901.1_Missense_Mutation_p.D333N|EYA4_ENST00000355286.6_Missense_Mutation_p.D304N|EYA4_ENST00000525849.1_Missense_Mutation_p.D304N|EYA4_ENST00000452339.2_Missense_Mutation_p.D273N	p.D327N	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	12	1443	+	Colorectal(23;0.221)		327					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.979G>A	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814556	0.32053	2.27E-4	1.16E-4	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	T;T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.67	5.67	0.87782	.	0.181220	0.64402	D	0.000016	T	0.55800	0.1943	N	0.24115	0.695	0.80722	D	1	B;B;P;B;B;B	0.36378	0.0;0.0;0.55;0.335;0.005;0.002	B;B;B;B;B;B	0.28465	0.003;0.002;0.09;0.038;0.002;0.003	T	0.61098	-0.7131	10	0.16896	T	0.51	-8.9005	19.7597	0.96309	0.0:0.0:1.0:0.0	.	333;279;273;304;327;327	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	N	273;279;327;327;304;333;304;327	ENSP00000395916:D273N;ENSP00000388670:D279N;ENSP00000356870:D327N;ENSP00000347294:D327N;ENSP00000347434:D304N;ENSP00000432770:D333N;ENSP00000433219:D304N;ENSP00000404558:D327N	ENSP00000347294:D327N	D	+	1	0	EYA4	133844302	1.000000	0.71417	0.999000	0.59377	0.763000	0.43281	9.578000	0.98200	2.665000	0.90641	0.655000	0.94253	GAT		0.388	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		15	93	0	0	0	1	0	15	93				
ITGAV	3685	broad.mit.edu	37	2	187531923	187531923	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:187531923G>A	ENST00000261023.3	+	23	2567	c.2293G>A	c.(2293-2295)Gat>Aat	p.D765N	ITGAV_ENST00000433736.2_Missense_Mutation_p.D719N|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.D729N	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	765					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TCACAAAGTTGATCTTGCTGT	0.333																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(2293-2295)Gat>Aat		integrin, alpha V							163.0	156.0	158.0					2																	187531923		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187531923G>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2293G>A	2.37:g.187531923G>A	ENSP00000261023:p.Asp765Asn					ITGAV_ENST00000433736.2_Missense_Mutation_p.D719N|ITGAV_ENST00000374907.3_Missense_Mutation_p.D729N|AC017101.10_ENST00000453665.1_RNA	p.D765N	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	23	2567	+			765					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.2293G>A	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	8.369	0.834880	0.16820	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.42131	0.98;0.98;0.98	6.07	6.07	0.98685	Integrin alpha-2 (1);	0.342170	0.34223	N	0.004150	T	0.30510	0.0767	N	0.11064	0.09	0.35528	D	0.80204	P;B;P	0.48589	0.912;0.013;0.912	P;B;P	0.49683	0.619;0.036;0.619	T	0.12344	-1.0551	10	0.02654	T	1	.	15.7487	0.77967	0.0667:0.0:0.9333:0.0	.	719;729;765	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	N	765;729;719	ENSP00000261023:D765N;ENSP00000364042:D729N;ENSP00000404291:D719N	ENSP00000261023:D765N	D	+	1	0	ITGAV	187240168	0.995000	0.38212	0.993000	0.49108	0.419000	0.31324	2.733000	0.47360	2.890000	0.99128	0.585000	0.79938	GAT		0.333	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		22	43	0	0	0	1	0	22	43				
ATP2B3	492	broad.mit.edu	37	X	152815068	152815068	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:152815068C>T	ENST00000349466.2	+	10	1778	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	ATP2B3_ENST00000393842.1_Silent_p.T470T|ATP2B3_ENST00000359149.3_Silent_p.T484T|ATP2B3_ENST00000263519.4_Silent_p.T484T|ATP2B3_ENST00000370186.1_Silent_p.T470T|ATP2B3_ENST00000370181.2_Silent_p.T470T			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	484					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCGTATGACCGTGGTCCAGT	0.612																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(1408-1410)acC>acT		ATPase, Ca++ transporting, plasma membrane 3							166.0	127.0	140.0					X																	152815068		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152815068C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1452C>T	X.37:g.152815068C>T						ATP2B3_ENST00000263519.4_Silent_p.T484T|ATP2B3_ENST00000393842.1_Silent_p.T470T|ATP2B3_ENST00000370181.2_Silent_p.T470T|ATP2B3_ENST00000349466.2_Silent_p.T484T|ATP2B3_ENST00000359149.3_Silent_p.T484T	p.T470T			Q16720	AT2B3_HUMAN			9	1736	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		484					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.1410C>T	CCDS35440.1																																																																																				0.612	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		57	123	0	0	0	1	0	57	123				
PCDHB4	56131	broad.mit.edu	37	5	140501704	140501704	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr5:140501704T>C	ENST00000194152.1	+	1	124	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	42	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGAGCGGCTCCTTTGTAGC	0.542																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(124-126)Tcc>Ccc									96.0	97.0	97.0					5																	140501704		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501704T>C	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.124T>C	5.37:g.140501704T>C	ENSP00000194152:p.Ser42Pro						p.S42P	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	124	+			42			Cadherin 1.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.124T>C	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.526368	0.44969	.	.	ENSG00000081818	ENST00000194152	T	0.39997	1.05	4.66	2.12	0.27331	Cadherin, N-terminal (1);Cadherin-like (1);	.	.	.	.	T	0.68072	0.2961	H	0.97390	3.995	0.37549	D	0.918609	P	0.49358	0.923	P	0.58130	0.833	T	0.71220	-0.4657	9	0.87932	D	0	.	6.0693	0.19881	0.2857:0.0:0.1487:0.5655	.	42	Q9Y5E5	PCDB4_HUMAN	P	42	ENSP00000194152:S42P	ENSP00000194152:S42P	S	+	1	0	PCDHB4	140481888	0.000000	0.05858	0.999000	0.59377	0.834000	0.47266	-0.305000	0.08188	0.335000	0.23614	-0.336000	0.08194	TCC		0.542	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		20	40	0	0	0	1	0	20	40				
TRRAP	8295	broad.mit.edu	37	7	98515126	98515126	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:98515126C>T	ENST00000359863.4	+	20	2655	c.2446C>T	c.(2446-2448)Cgg>Tgg	p.R816W	TRRAP_ENST00000446306.3_Missense_Mutation_p.R815W|TRRAP_ENST00000355540.3_Missense_Mutation_p.R816W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	816					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R816W(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGTCCCTGTGCGGCTGAGCTC	0.577																																						ENST00000359863.4																			2	Substitution - Missense(2)	p.R816W(2)	pancreas(2)	NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2446-2448)Cgg>Tgg		transformation/transcription domain-associated protein							152.0	126.0	135.0					7																	98515126		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98515126C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2446C>T	7.37:g.98515126C>T	ENSP00000352925:p.Arg816Trp					TRRAP_ENST00000355540.3_Missense_Mutation_p.R816W|TRRAP_ENST00000446306.3_Missense_Mutation_p.R815W	p.R816W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		20	2655	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		816					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2446C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160699	0.57368	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.07216	3.21;3.21	5.56	3.71	0.42584	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.54423	-0.8296	10	0.87932	D	0	.	14.7884	0.69821	0.2633:0.7367:0.0:0.0	.	816;530;816	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	W	816;816;814	ENSP00000352925:R816W;ENSP00000347733:R816W	ENSP00000347733:R816W	R	+	1	2	TRRAP	98353062	0.980000	0.34600	0.975000	0.42487	0.089000	0.18198	2.056000	0.41355	0.683000	0.31428	0.456000	0.33151	CGG		0.577	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		29	37	0	0	0	1	0	29	37				
TMEM127	55654	broad.mit.edu	37	2	96933089	96933089	+	5'Flank	SNP	C	C	G			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:96933089C>G	ENST00000258439.3	-	0	0				TMEM127_ENST00000432959.1_5'Flank|CIAO1_ENST00000469320.1_3'UTR|CIAO1_ENST00000488633.1_Missense_Mutation_p.S57C	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						TCTGTCCTTTCTGAAGGCCAC	0.577																																						ENST00000488633.1																			0				endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						c.(169-171)tCt>tGt		cytosolic iron-sulfur protein assembly 1							129.0	126.0	127.0					2																	96933089		2203	4300	6503	SO:0001631	upstream_gene_variant	9391				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding	g.chr2:96933089C>G	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96933089C>G	Exception_encountered					CIAO1_ENST00000469320.1_3'UTR	p.S57C	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN			2	389	+			57					D3DXH0	Missense_Mutation	SNP	ENST00000258439.3	37	c.170C>G	CCDS2018.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181690	0.38511	.	.	ENSG00000144021	ENST00000488633	T	0.67345	-0.26	4.77	3.89	0.44902	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.567902	0.19169	N	0.120965	T	0.60104	0.2243	L	0.54323	1.7	0.40653	D	0.982054	B	0.02656	0.0	B	0.01281	0.0	T	0.57831	-0.7743	10	0.37606	T	0.19	-11.4808	11.3935	0.49827	0.0:0.6122:0.3878:0.0	.	57	O76071	CIAO1_HUMAN	C	57	ENSP00000418287:S57C	ENSP00000418287:S57C	S	+	2	0	CIAO1	96296816	0.365000	0.25006	1.000000	0.80357	0.916000	0.54674	0.774000	0.26675	1.232000	0.43678	0.561000	0.74099	TCT		0.577	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		92	112	0	0	0	1	0	92	112				
KANK4	163782	broad.mit.edu	37	1	62739603	62739603	+	Silent	SNP	T	T	C			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:62739603T>C	ENST00000371153.4	-	3	1551	c.1173A>G	c.(1171-1173)gtA>gtG	p.V391V	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	391						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCAGTTGGGCTACAGTGAACT	0.527																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(1171-1173)gtA>gtG		KN motif and ankyrin repeat domains 4							155.0	132.0	140.0					1																	62739603		2203	4300	6503	SO:0001819	synonymous_variant	163782							g.chr1:62739603T>C	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1173A>G	1.37:g.62739603T>C						KANK4_ENST00000354381.3_Intron	p.V391V	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	1551	-			391					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	c.1173A>G	CCDS620.1																																																																																				0.527	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		4	114	0	0	0	1	0	4	114				
ZNF750	79755	broad.mit.edu	37	17	80790229	80790229	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:80790229G>T	ENST00000269394.3	-	2	935	c.102C>A	c.(100-102)tgC>tgA	p.C34*	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	34					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACTTCTCATTGCAAGTAAAGG	0.413																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(100-102)tgC>tgA		zinc finger protein 750							103.0	107.0	106.0					17																	80790229		2203	4300	6503	SO:0001587	stop_gained	79755					intracellular	zinc ion binding	g.chr17:80790229G>T	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.102C>A	17.37:g.80790229G>T	ENSP00000269394:p.Cys34*					TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	p.C34*	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	935	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	34					Q9H899	Nonsense_Mutation	SNP	ENST00000269394.3	37	c.102C>A	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	42	9.775221	0.99260	.	.	ENSG00000141579	ENST00000269394	.	.	.	5.97	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-31.7482	13.9593	0.64168	0.0722:0.0:0.9278:0.0	.	.	.	.	X	34	.	.	C	-	3	2	ZNF750	78383518	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	6.590000	0.74085	1.529000	0.49120	0.655000	0.94253	TGC		0.413	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		34	12	1	0	9.65021e-13	1	1.04774e-12	34	12				
TNIP1	10318	broad.mit.edu	37	5	150422172	150422172	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr5:150422172C>T	ENST00000389378.2	-	11	1651	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	TNIP1_ENST00000315050.7_Missense_Mutation_p.E355K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E355K|TNIP1_ENST00000523338.1_Missense_Mutation_p.E355K|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000521591.1_Missense_Mutation_p.E355K|TNIP1_ENST00000520931.1_Missense_Mutation_p.E302K|TNIP1_ENST00000523200.1_Missense_Mutation_p.E355K|TNIP1_ENST00000522226.1_Missense_Mutation_p.E355K|TNIP1_ENST00000524280.1_Missense_Mutation_p.E355K	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	355	Interaction with Shigella flexneri ipah9.8.|Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTCCCGCTCGGCCTCCAGG	0.572																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(1063-1065)Gag>Aag		TNFAIP3 interacting protein 1							58.0	51.0	53.0					5																	150422172		2203	4300	6503	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150422172C>T	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1063G>A	5.37:g.150422172C>T	ENSP00000374029:p.Glu355Lys					TNIP1_ENST00000523338.1_Missense_Mutation_p.E355K|TNIP1_ENST00000524280.1_Missense_Mutation_p.E355K|TNIP1_ENST00000521591.1_Missense_Mutation_p.E355K|TNIP1_ENST00000520931.1_Missense_Mutation_p.E302K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E355K|TNIP1_ENST00000523200.1_Missense_Mutation_p.E355K|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000522226.1_Missense_Mutation_p.E355K|TNIP1_ENST00000315050.7_Missense_Mutation_p.E355K	p.E355K	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1651	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	355			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.1063G>A	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728562	0.89390	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840	T;T;T;T;T;T;T;T;T	0.61392	2.26;2.29;2.29;2.29;2.29;2.29;2.29;0.11;2.32	5.32	5.32	0.75619	.	0.044525	0.85682	D	0.000000	T	0.74981	0.3788	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D;D	0.69078	0.989;0.996;0.995;0.996;0.996;0.997;0.997	P;P;P;P;P;P;P	0.59487	0.634;0.754;0.734;0.754;0.754;0.858;0.79	T	0.76570	-0.2911	10	0.45353	T	0.12	-31.8758	18.6034	0.91257	0.0:1.0:0.0:0.0	.	355;309;309;355;355;355;355	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	K	302;355;355;355;312;312;317;355;355;355;355;355;312	ENSP00000429891:E302K;ENSP00000374029:E355K;ENSP00000317891:E355K;ENSP00000428243:E355K;ENSP00000428187:E355K;ENSP00000430760:E355K;ENSP00000430971:E355K;ENSP00000429912:E355K;ENSP00000431105:E355K	ENSP00000317891:E355K	E	-	1	0	TNIP1	150402365	1.000000	0.71417	0.952000	0.39060	0.604000	0.37047	7.569000	0.82380	2.489000	0.83994	0.655000	0.94253	GAG		0.572	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		27	29	0	0	0	1	0	27	29				
SPEN	23013	broad.mit.edu	37	1	16255380	16255380	+	Missense_Mutation	SNP	G	G	C	rs368635957		TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:16255380G>C	ENST00000375759.3	+	11	2849	c.2645G>C	c.(2644-2646)cGa>cCa	p.R882P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	882					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTTTTGACTCGAGTGAAAGAG	0.463																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(2644-2646)cGa>cCa		spen family transcriptional repressor							100.0	106.0	104.0					1																	16255380		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255380G>C		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2645G>C	1.37:g.16255380G>C	ENSP00000364912:p.Arg882Pro						p.R882P	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2849	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	882					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.2645G>C	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745984	0.30955	.	.	ENSG00000065526	ENST00000375759	T	0.15952	2.38	4.78	4.78	0.61160	.	.	.	.	.	T	0.37652	0.1011	M	0.62723	1.935	0.54753	D	0.999982	D	0.71674	0.998	P	0.61201	0.885	T	0.14448	-1.0472	9	0.59425	D	0.04	-8.7423	17.9966	0.89185	0.0:0.0:1.0:0.0	.	882	Q96T58	MINT_HUMAN	P	882	ENSP00000364912:R882P	ENSP00000364912:R882P	R	+	2	0	SPEN	16127967	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.049000	0.71053	2.460000	0.83146	0.591000	0.81541	CGA		0.463	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		70	87	0	0	0	1	0	70	87				
NXF1	10482	broad.mit.edu	37	11	62563597	62563597	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:62563597C>T	ENST00000532297.1	-	17	2031	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.E468K			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	468	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGGGCAACTCATTGAGGAAG	0.557																																						ENST00000532297.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1402-1404)Gag>Aag		nuclear RNA export factor 1							138.0	128.0	131.0					11																	62563597		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62563597C>T	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1402G>A	11.37:g.62563597C>T	ENSP00000436679:p.Glu468Lys					NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.E468K	p.E468K			Q9UBU9	NXF1_HUMAN			17	2031	-			468			NTF2.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.1402G>A	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627286	0.66901	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.62788	0.0;0.0;0.0	5.82	5.82	0.92795	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	L	0.47190	1.495	0.80722	D	1	P;P	0.42785	0.79;0.572	P;B	0.47827	0.558;0.105	T	0.55108	-0.8192	10	0.07644	T	0.81	-33.4358	17.579	0.87960	0.0:1.0:0.0:0.0	.	511;468	E9PIN3;Q9UBU9	.;NXF1_HUMAN	K	468;468;511	ENSP00000294172:E468K;ENSP00000436679:E468K;ENSP00000435742:E511K	ENSP00000294172:E468K	E	-	1	0	NXF1	62320173	1.000000	0.71417	0.977000	0.42913	0.336000	0.28762	7.464000	0.80887	2.756000	0.94617	0.561000	0.74099	GAG		0.557	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		24	46	0	0	0	1	0	24	46				
HNRNPD	3184	broad.mit.edu	37	4	83280732	83280732	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr4:83280732A>T	ENST00000313899.7	-	3	628	c.351T>A	c.(349-351)ttT>ttA	p.F117L	HNRNPD_ENST00000543098.1_Missense_Mutation_p.F65L|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000353341.4_Missense_Mutation_p.F117L|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000352301.4_Missense_Mutation_p.F98L	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	117	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CAAATTTGGAAAAGTAGTCCT	0.378																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(349-351)ttT>ttA		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							124.0	122.0	123.0					4																	83280732		2203	4300	6503	SO:0001583	missense	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83280732A>T	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.351T>A	4.37:g.83280732A>T	ENSP00000313199:p.Phe117Leu					HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Missense_Mutation_p.F98L|HNRNPD_ENST00000543098.1_Missense_Mutation_p.F65L|HNRNPD_ENST00000353341.4_Missense_Mutation_p.F117L	p.F117L	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN			3	628	-			117			RRM 1.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	ENST00000313899.7	37	c.351T>A	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.22|16.22	3.062131|3.062131	0.55432|0.55432	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000514671|ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000509263;ENST00000507010;ENST00000515432;ENST00000503822;ENST00000509107	T|T;T;T;T;T;T;T;T;T	0.47177|0.43294	0.85|0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.86|5.86	2.25|2.25	0.28309|0.28309	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51702|0.51702	0.1690|0.1690	M|M	0.88241|0.88241	2.94|2.94	0.80722|0.80722	D|D	1|1	.|P;P;B;B	.|0.34587	.|0.458;0.458;0.234;0.276	.|B;B;B;B	.|0.42495	.|0.389;0.389;0.245;0.359	T|T	0.51585|0.51585	-0.8687|-0.8687	8|10	0.87932|0.44086	D|T	0|0.13	.|.	7.591|7.591	0.28021|0.28021	0.621:0.0:0.379:0.0|0.621:0.0:0.379:0.0	.|.	.|98;117;98;117	.|Q14103-4;Q14103-3;Q14103-2;Q14103	.|.;.;.;HNRPD_HUMAN	I|L	21|117;117;98;65;92;50;117;19;98;71	ENSP00000426446:F21I|ENSP00000313199:F117L;ENSP00000313327:F117L;ENSP00000305860:F98L;ENSP00000439380:F65L;ENSP00000420926:F50L;ENSP00000421952:F117L;ENSP00000426666:F19L;ENSP00000422615:F98L;ENSP00000425439:F71L	ENSP00000426446:F21I|ENSP00000307544:F92L	F|F	-|-	1|3	0|2	HNRNPD|HNRNPD	83499756|83499756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.648000|1.648000	0.37271|0.37271	0.747000|0.747000	0.32809|0.32809	0.528000|0.528000	0.53228|0.53228	TTC|TTT		0.378	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		43	43	0	0	0	1	0	43	43				
APBA1	320	broad.mit.edu	37	9	72131808	72131808	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr9:72131808C>G	ENST00000265381.4	-	2	541	c.319G>C	c.(319-321)Gag>Cag	p.E107Q		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	107					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGCGCGCGCTCCGCATCGTAG	0.721																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(319-321)Gag>Cag		amyloid beta (A4) precursor protein-binding, family A, member 1							14.0	14.0	14.0					9																	72131808		2197	4272	6469	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131808C>G	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.319G>C	9.37:g.72131808C>G	ENSP00000265381:p.Glu107Gln						p.E107Q	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	541	-			107					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.319G>C	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928308	0.34002	.	.	ENSG00000107282	ENST00000265381	T	0.06218	3.33	4.78	3.89	0.44902	.	0.172837	0.37530	N	0.002056	T	0.05823	0.0152	N	0.24115	0.695	0.34666	D	0.723209	B	0.19583	0.037	B	0.18871	0.023	T	0.12967	-1.0527	10	0.87932	D	0	.	13.321	0.60432	0.0:0.9229:0.0:0.0771	.	107	Q02410	APBA1_HUMAN	Q	107	ENSP00000265381:E107Q	ENSP00000265381:E107Q	E	-	1	0	APBA1	71321628	1.000000	0.71417	0.910000	0.35882	0.794000	0.44872	5.457000	0.66672	1.161000	0.42604	0.655000	0.94253	GAG		0.721	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		7	16	0	0	0	1	0	7	16				
CCT8L2	150160	broad.mit.edu	37	22	17072656	17072656	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:17072656G>C	ENST00000359963.3	-	1	1044	c.785C>G	c.(784-786)tCt>tGt	p.S262C		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	262					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.S262C(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGCAGGACTAGAAAGACGGGC	0.507																																						ENST00000359963.3																			1	Substitution - Missense(1)	p.S262C(1)	ovary(1)	breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(784-786)tCt>tGt		chaperonin containing TCP1, subunit 8 (theta)-like 2							109.0	103.0	105.0					22																	17072656		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072656G>C	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.785C>G	22.37:g.17072656G>C	ENSP00000353048:p.Ser262Cys						p.S262C	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1044	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	262					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.785C>G	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	12.01	1.809843	0.31961	.	.	ENSG00000198445	ENST00000359963	T	0.78246	-1.16	1.98	0.869	0.19096	.	0.641922	0.11995	U	0.509439	T	0.80768	0.4686	L	0.51422	1.61	0.09310	N	1	D	0.67145	0.996	D	0.64506	0.926	T	0.67476	-0.5661	10	0.72032	D	0.01	-7.7464	6.2969	0.21091	0.0:0.3156:0.6844:0.0	.	262	Q96SF2	TCPQM_HUMAN	C	262	ENSP00000353048:S262C	ENSP00000353048:S262C	S	-	2	0	CCT8L2	15452656	0.001000	0.12720	0.003000	0.11579	0.052000	0.14988	0.214000	0.17541	0.163000	0.19507	0.379000	0.24179	TCT		0.507	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			61	100	0	0	0	1	0	61	100				
GPR35	2859	broad.mit.edu	37	2	241569536	241569536	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:241569536G>A	ENST00000319838.5	+	6	1109	c.167G>A	c.(166-168)cGc>cAc	p.R56H	GPR35_ENST00000403859.1_Missense_Mutation_p.R56H|GPR35_ENST00000407714.1_Missense_Mutation_p.R56H|GPR35_ENST00000430267.1_Missense_Mutation_p.R56H|GPR35_ENST00000438013.2_Missense_Mutation_p.R87H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	56					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACGGAGACCCGCATCTACATG	0.642																																						ENST00000319838.5																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(166-168)cGc>cAc		G protein-coupled receptor 35							104.0	90.0	95.0					2																	241569536		2203	4300	6503	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569536G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.167G>A	2.37:g.241569536G>A	ENSP00000322731:p.Arg56His					GPR35_ENST00000430267.1_Missense_Mutation_p.R56H|GPR35_ENST00000407714.1_Missense_Mutation_p.R56H|GPR35_ENST00000403859.1_Missense_Mutation_p.R56H|GPR35_ENST00000438013.2_Missense_Mutation_p.R87H	p.R56H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	6	1109	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	56					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.167G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740954	0.30865	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	4.02	-0.189	0.13260	GPCR, rhodopsin-like superfamily (1);	0.640810	0.14659	N	0.306078	T	0.33235	0.0856	L	0.47078	1.49	0.09310	N	1	D;D;D	0.63880	0.993;0.965;0.965	P;P;P	0.52386	0.697;0.515;0.515	T	0.14035	-1.0487	10	0.32370	T	0.25	-20.0686	2.8886	0.05669	0.3284:0.0:0.391:0.2806	.	141;87;56	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	H	56;56;87;56;56	ENSP00000322731:R56H;ENSP00000385140:R56H;ENSP00000415890:R87H;ENSP00000384263:R56H;ENSP00000411788:R56H	ENSP00000322731:R56H	R	+	2	0	GPR35	241218209	0.000000	0.05858	0.123000	0.21794	0.794000	0.44872	-0.646000	0.05403	0.130000	0.18549	0.462000	0.41574	CGC		0.642	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		35	44	0	0	0	1	0	35	44				
OR10C1	442194	broad.mit.edu	37	6	29408552	29408552	+	Missense_Mutation	SNP	G	G	A	rs374582900		TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:29408552G>A	ENST00000444197.2	+	1	1470	c.760G>A	c.(760-762)Gca>Aca	p.A254T	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	254						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(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTATGGCACCGCACTCTTTAT	0.582																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(760-762)Gca>Aca		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							267.0	300.0	288.0					6																	29408552		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408552G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.760G>A	6.37:g.29408552G>A	ENSP00000419119:p.Ala254Thr					OR11A1_ENST00000377149.1_Intron	p.A254T	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	1470	+			254					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.760G>A	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992304	0.54041	.	.	ENSG00000206474	ENST00000444197	T	0.00169	8.63	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	N	0.001525	T	0.00039	0.0001	N	0.13371	0.34	0.30451	N	0.77526	P	0.35959	0.53	B	0.31495	0.131	T	0.00055	-1.2179	10	0.66056	D	0.02	.	8.8589	0.35245	0.1069:0.0:0.8931:0.0	.	254	Q96KK4	O10C1_HUMAN	T	254	ENSP00000419119:A254T	ENSP00000419119:A254T	A	+	1	0	OR10C1	29516531	0.001000	0.12720	0.187000	0.23214	0.927000	0.56198	0.908000	0.28545	1.795000	0.52594	0.603000	0.83216	GCA		0.582	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			5	361	0	0	0	1	0	5	361				
RING1	6015	broad.mit.edu	37	6	33175633	33175633	+	5'Flank	SNP	G	G	C			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:33175633G>C	ENST00000374656.4	+	0	0				MIR219-1_ENST00000362166.1_RNA	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1						anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CGCGGCTCCTGATTGTCCAAA	0.657																																						ENST00000362166.1																			0																				33.0	32.0	33.0					6																	33175633		1567	3578	5145	SO:0001631	upstream_gene_variant	407002							g.chr6:33175633G>C		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278		6.37:g.33175633G>C	Exception_encountered							NR_029633.1						0	22	+								A8JZZ0|Q5JP96|Q5SQW2|Q86V19	RNA	SNP	ENST00000374656.4	37		CCDS34424.1																																																																																				0.657	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			11	8	0	0	0	1	0	11	8				
RRP1B	23076	broad.mit.edu	37	21	45107797	45107797	+	Silent	SNP	G	G	A	rs143773984		TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr21:45107797G>A	ENST00000340648.4	+	13	1659	c.1542G>A	c.(1540-1542)ccG>ccA	p.P514P		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	514					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GAGGGTCCCCGACAGGTGGAG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15780	0.0		0.0	False		,,,				2504	0.0					ENST00000340648.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21						c.(1540-1542)ccG>ccA		ribosomal RNA processing 1B		G		4,4396		0,4,2196	42.0	42.0	42.0		1542	-9.9	0.0	21	dbSNP_134	42	0,8594		0,0,4297	no	coding-synonymous	RRP1B	NM_015056.2		0,4,6493	AA,AG,GG		0.0,0.0909,0.0308		514/759	45107797	4,12990	2200	4297	6497	SO:0001819	synonymous_variant	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45107797G>A	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1542G>A	21.37:g.45107797G>A							p.P514P	NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	13	1659	+			514					Q8TBZ4	Silent	SNP	ENST00000340648.4	37	c.1542G>A	CCDS33577.1																																																																																				0.607	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		13	68	0	0	0	1	0	13	68				
EFHC2	80258	broad.mit.edu	37	X	44107644	44107644	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:44107644C>G	ENST00000420999.1	-	7	1068	c.985G>C	c.(985-987)Gac>Cac	p.D329H		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	329	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						AACTCTTGGTCTACTTTTCCT	0.413																																						ENST00000420999.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(985-987)Gac>Cac		EF-hand domain (C-terminal) containing 2							48.0	41.0	43.0					X																	44107644		1842	4066	5908	SO:0001583	missense	80258						calcium ion binding	g.chrX:44107644C>G	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.985G>C	X.37:g.44107644C>G	ENSP00000404232:p.Asp329His						p.D329H	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN			7	1068	-			329			DM10 2.		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	c.985G>C	CCDS55405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.018|0.018	-1.481193|-1.481193	0.01027|0.01027	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000333807;ENST00000420999;ENST00000378056|ENST00000441230	T;T|.	0.68181|.	-0.3;-0.31|.	5.75|5.75	-0.155|-0.155	0.13395|0.13395	Uncharacterised domain DM10 (2);|.	1.231740|.	0.05455|.	N|.	0.550065|.	T|T	0.28830|0.28830	0.0715|0.0715	N|N	0.13352|0.13352	0.335|0.335	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.25047|0.25047	-1.0143|-1.0143	10|5	0.37606|.	T|.	0.19|.	-1.1138|-1.1138	14.5761|14.5761	0.68249|0.68249	0.0:0.1627:0.7522:0.0851|0.0:0.1627:0.7522:0.0851	.|.	329|.	Q5JST6|.	EFHC2_HUMAN|.	H|T	329;357;133|309	ENSP00000333823:D329H;ENSP00000404232:D357H|.	ENSP00000333823:D329H|.	D|R	-|-	1|2	0|0	EFHC2|EFHC2	43992588|43992588	0.096000|0.096000	0.21769|0.21769	0.014000|0.014000	0.15608|0.15608	0.031000|0.031000	0.12232|0.12232	0.018000|0.018000	0.13422|0.13422	0.126000|0.126000	0.18424|0.18424	0.594000|0.594000	0.82650|0.82650	GAC|AGA		0.413	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		5	3	0	0	0	1	0	5	3				
ZNF48	197407	broad.mit.edu	37	16	30409140	30409140	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:30409140G>A	ENST00000320159.2	+	2	945	c.569G>A	c.(568-570)cGc>cAc	p.R190H	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	190					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(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GCTGGTGAGCGCCCCACTATC	0.597																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(568-570)cGc>cAc		zinc finger protein 48							34.0	39.0	37.0					16																	30409140		2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409140G>A	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.569G>A	16.37:g.30409140G>A	ENSP00000324056:p.Arg190His						p.R190H	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	945	+			190					Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.569G>A	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394927	0.62066	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.34275	1.37	4.81	4.81	0.61882	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40640	N	0.001048	T	0.56659	0.2000	M	0.69248	2.105	0.30231	N	0.795891	D	0.71674	0.998	D	0.74023	0.982	T	0.58601	-0.7608	10	0.87932	D	0	-17.2401	13.5724	0.61853	0.0:0.0:1.0:0.0	.	190	Q96MX3	ZNF48_HUMAN	H	315;190	ENSP00000324056:R190H	ENSP00000324056:R190H	R	+	2	0	ZNF48	30316641	0.015000	0.18098	1.000000	0.80357	0.995000	0.86356	0.716000	0.25836	2.637000	0.89404	0.563000	0.77884	CGC		0.597	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		3	45	0	0	0	1	0	3	45				
PPP4R4	57718	broad.mit.edu	37	14	94642442	94642442	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:94642442G>C	ENST00000304338.3	+	2	323	c.169G>C	c.(169-171)Gaa>Caa	p.E57Q	PPP4R4_ENST00000328839.3_Missense_Mutation_p.E57Q|PPP4R4_ENST00000555690.1_3'UTR	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	57					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CAGTGATATTGAAAGGGCTGT	0.383																																						ENST00000304338.3																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(169-171)Gaa>Caa		protein phosphatase 4, regulatory subunit 4							225.0	223.0	224.0					14																	94642442		2203	4300	6503	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94642442G>C	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.169G>C	14.37:g.94642442G>C	ENSP00000305924:p.Glu57Gln					PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.E57Q	p.E57Q	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			2	323	+			57					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.169G>C	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582982	0.65992	.	.	ENSG00000119698	ENST00000304338;ENST00000328839	.	.	.	4.71	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.056017	0.64402	D	0.000001	T	0.68495	0.3007	M	0.68952	2.095	0.37496	D	0.916553	P;P	0.38280	0.625;0.59	P;B	0.45474	0.482;0.384	T	0.74899	-0.3507	9	0.51188	T	0.08	-9.5382	16.3939	0.83550	0.0:0.0:1.0:0.0	.	57;57	Q6NUP7;Q6NUP7-2	PP4R4_HUMAN;.	Q	57	.	ENSP00000305924:E57Q	E	+	1	0	PPP4R4	93712195	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.834000	0.86773	2.455000	0.83008	0.491000	0.48974	GAA		0.383	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		30	16	0	0	0	1	0	30	16				
TMEM127	55654	broad.mit.edu	37	2	96933415	96933415	+	5'Flank	DEL	C	C	-			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:96933415delC	ENST00000258439.3	-	0	0				TMEM127_ENST00000432959.1_5'Flank|CIAO1_ENST00000469320.1_3'UTR|CIAO1_ENST00000488633.1_Frame_Shift_Del_p.A114fs	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTGGCTTGGGCCCCATCTGGC	0.542																																						ENST00000488633.1																			0				endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						c.(340-342)gcfs		cytosolic iron-sulfur protein assembly 1							43.0	43.0	43.0					2																	96933415		2203	4300	6503	SO:0001631	upstream_gene_variant	9391				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding	g.chr2:96933415delC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96933415delC	Exception_encountered					CIAO1_ENST00000469320.1_3'UTR	p.A114fs	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN			3	560	+			114					D3DXH0	Frame_Shift_Del	DEL	ENST00000258439.3	37	c.341delC	CCDS2018.1																																																																																				0.542	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		27	45						27	45	---	---	---	---
FOXC1	2296	broad.mit.edu	37	6	1611463	1611465	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:1611463_1611465delCAG	ENST00000380874.2	+	1	783_785	c.783_785delCAG	c.(781-786)gacagc>gac	p.S266del		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	266	Poly-Ser.				artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		AGAGCCCCGACAGCAGCAGCAGC	0.793																																					Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(781-786)gac>ga		forkhead box C1				13,1211		4,5,603						1.5	1.0			2	36,3462		6,24,1719	no	coding	FOXC1	NM_001453.2		10,29,2322	A1A1,A1R,RR		1.0292,1.0621,1.0377				49,4673				SO:0001651	inframe_deletion	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|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 activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1611463_1611465delCAG	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.783_785delCAG	6.37:g.1611472_1611474delCAG	ENSP00000370256:p.Ser266del						p.DS261del	NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	783_785	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	261					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	In_Frame_Del	DEL	ENST00000380874.2	37	c.783_785delCAG	CCDS4473.1																																																																																				0.793	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			2	4						2	4	---	---	---	---
RRAGD	58528	broad.mit.edu	37	6	90121645	90121647	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:90121645_90121647delTCC	ENST00000369415.4	-	1	342_344	c.66_68delGGA	c.(64-69)gaggat>gat	p.E22del	RRAGD_ENST00000359203.3_5'UTR|RRAGD_ENST00000492783.1_5'Flank	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CACCAGctcatcctcctcctcct	0.754																																						ENST00000369415.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(64-69)gat>ga		Ras-related GTP binding D				97,9,3788		4,0,89,2,5,1847						0.6	1.0			17	184,8,7442		9,0,166,1,6,3635	no	codingComplex	RRAGD	NM_021244.4		13,0,255,3,11,5482	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5151,2.7221,2.585				281,17,11230				SO:0001651	inframe_deletion	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90121645_90121647delTCC	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.66_68delGGA	6.37:g.90121654_90121656delTCC	ENSP00000358423:p.Glu22del					RRAGD_ENST00000359203.2_5'UTR	p.ED22del	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	1	342_344	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	22						In_Frame_Del	DEL	ENST00000369415.4	37	c.66_68delGGA	CCDS5022.1																																																																																				0.754	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		2	4						2	4	---	---	---	---
PHACTR2	9749	broad.mit.edu	37	6	144081695	144081696	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:144081695_144081696insA	ENST00000427704.2	+	5	709_710	c.579_580insA	c.(580-582)aaafs	p.K194fs	PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.K205fs|PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000305766.6_Intron	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	194							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGCCTCCCATTAAAAAAAATAC	0.569																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(577-582)ataaaafs		phosphatase and actin regulator 2																																				SO:0001589	frameshift_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144081695_144081696insA	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.587dupA	6.37:g.144081703_144081703dupA	ENSP00000391763:p.Lys194fs					PHACTR2_ENST00000305766.6_Intron|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.IK204fs|PHACTR2_ENST00000367582.3_Intron	p.IK193fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	5	709_710	+			193					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Frame_Shift_Ins	INS	ENST00000427704.2	37	c.579_580insA	CCDS47492.1																																																																																				0.569	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		7	134						7	134	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6679315	6679316	+	RNA	DEL	CC	CC	-	rs58387909|rs552404023	byFrequency	TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr8:6679315_6679316delCC	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		cacacacacaccccccacacac	0.406																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6679315_6679316delCC	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6679319_6679320delCC										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	958	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.406	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		3	6						3	6	---	---	---	---
GOT1L1	137362	broad.mit.edu	37	8	37791833	37791834	+	Frame_Shift_Ins	INS	-	-	T	rs370114090	byFrequency	TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr8:37791833_37791834insT	ENST00000307599.4	-	9	1342_1343	c.1243_1244insA	c.(1243-1245)acafs	p.T415fs		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	415					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TCCAATCAGTGTTTTTTTTTCC	0.371													?|TTTTTTTTT|TTTTTTTTTT|unsure	7	0.00139776	0.0	0.0	5008	,	,		21654	0.0069		0.0	False		,,,				2504	0.0					ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(1243-1245)actfs		glutamic-oxaloacetic transaminase 1-like 1																																				SO:0001589	frameshift_variant	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37791833_37791834insT	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.1244dupA	8.37:g.37791842_37791842dupT	ENSP00000303077:p.Thr415fs						p.T415fs	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		9	1342_1343	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	415					A8MWL4	Frame_Shift_Ins	INS	ENST00000307599.4	37	c.1243_1244insA	CCDS47839.1																																																																																				0.371	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		7	80						7	80	---	---	---	---
RAB2A	5862	broad.mit.edu	37	8	61533317	61533317	+	Frame_Shift_Del	DEL	G	G	-	rs374486741		TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr8:61533317delG	ENST00000262646.7	+	8	979	c.628delG	c.(628-630)ggcfs	p.G210fs	RAB2A_ENST00000529579.1_Frame_Shift_Del_p.A174fs|RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000531289.1_Frame_Shift_Del_p.G186fs	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	210					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GGCTGGGGGCGGCTGCTGTTG	0.502																																						ENST00000262646.7																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(628-630)gcfs		RAB2A, member RAS oncogene family							65.0	74.0	71.0					8																	61533317		2203	4300	6503	SO:0001589	frameshift_variant	5862				ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity	g.chr8:61533317delG		CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"""RAB, member RAS oncogene"""	9763	protein-coding gene	gene with protein product		179509	"""RAB2, member RAS oncogene family"""	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.628delG	8.37:g.61533317delG	ENSP00000262646:p.Gly210fs					RAB2A_ENST00000531289.1_Frame_Shift_Del_p.G186fs|RAB2A_ENST00000529579.1_Frame_Shift_Del_p.A174fs|RAB2A_ENST00000530071.1_3'UTR	p.G210fs	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0805)		8	979	+			210					B2R5W8|B4DMQ5|P08886	Frame_Shift_Del	DEL	ENST00000262646.7	37	c.628delG	CCDS6175.1																																																																																				0.502	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259145.2			22	37						22	37	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112628669	112628669	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:112628669delT	ENST00000430131.2	-	59	9272	c.8127delA	c.(8125-8127)tcafs	p.S2709fs	HECTD4_ENST00000377560.5_Frame_Shift_Del_p.S2959fs|HECTD4_ENST00000550722.1_Frame_Shift_Del_p.S2985fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2709					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)										CACTGTCCTCTGATTTCCAGG	0.602																																						ENST00000550722.1																			0											c.(8953-8955)tcfs		HECT domain containing E3 ubiquitin protein ligase 4							40.0	43.0	42.0					12																	112628669		2092	4212	6304	SO:0001589	frameshift_variant	283450							g.chr12:112628669delT	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.8127delA	12.37:g.112628669delT	ENSP00000404379:p.Ser2709fs					HECTD4_ENST00000430131.2_Frame_Shift_Del_p.S2709fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.S2959fs	p.S2985fs	NM_001109662.3	NP_001103132.3					60	9350	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Del	DEL	ENST00000430131.2	37	c.8955delA																																																																																					0.602	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		2	4						2	4	---	---	---	---
RP11-160E2.17	0	broad.mit.edu	37	17	18988562	18988562	+	lincRNA	DEL	T	T	-			TCGA-KU-A6H7-06A-21D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d10e2807-bbf6-43fc-923e-7fef0bb91f32	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:18988562delT	ENST00000442355.2	+	0	272																											CTGATGTGTGTTTTTTTTTTT	0.279																																						ENST00000442355.2																			0																																																			0							g.chr17:18988562delT																													17.37:g.18988562delT														0	272	+									RNA	DEL	ENST00000442355.2	37																																																																																						0.279	RP11-160E2.17-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441117.1			3	4						3	4	---	---	---	---
