#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
ZNF420	147923	broad.mit.edu	37	19	37618488	37618488	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:37618488G>A	ENST00000337995.3	+	5	810	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.E199K	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCATGTAAGGAATGTGGGAA	0.398																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(595-597)Gaa>Aaa		zinc finger protein 420							56.0	58.0	57.0					19																	37618488		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618488G>A	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.595G>A	19.37:g.37618488G>A	ENSP00000338770:p.Glu199Lys					ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.E199K	p.E199K	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	810	+			199					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.595G>A	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142181	0.57044	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.35973	1.28;1.28	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45397	0.1340	N	0.25647	0.755	0.80722	D	1	D	0.62365	0.991	D	0.79784	0.993	T	0.42716	-0.9435	9	0.49607	T	0.09	.	13.4889	0.61382	0.0:0.0:1.0:0.0	.	199	Q8TAQ5	ZN420_HUMAN	K	199	ENSP00000306102:E199K;ENSP00000338770:E199K	ENSP00000306102:E199K	E	+	1	0	ZNF420	42310328	0.001000	0.12720	1.000000	0.80357	0.981000	0.71138	0.546000	0.23284	2.014000	0.59158	0.655000	0.94253	GAA		0.398	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		24	68	0	0	0	1	0	24	68				
ANO5	203859	broad.mit.edu	37	11	22249075	22249075	+	Silent	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr11:22249075G>A	ENST00000324559.8	+	7	908	c.591G>A	c.(589-591)gaG>gaA	p.E197E		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	197					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCGGCAGGAGCTCTTCCTCA	0.453																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(589-591)gaG>gaA		anoctamin 5							106.0	104.0	105.0					11																	22249075		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22249075G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.591G>A	11.37:g.22249075G>A							p.E197E	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			7	908	+			197						Silent	SNP	ENST00000324559.8	37	c.591G>A	CCDS31444.1																																																																																				0.453	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		28	52	0	0	0	1	0	28	52				
MARK3	4140	broad.mit.edu	37	14	103969417	103969417	+	Silent	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr14:103969417G>A	ENST00000429436.2	+	18	2625	c.2115G>A	c.(2113-2115)ggG>ggA	p.G705G	MARK3_ENST00000216288.7_Silent_p.G665G|MARK3_ENST00000440884.3_Silent_p.G611G|MARK3_ENST00000303622.9_Silent_p.G681G|MARK3_ENST00000335102.5_Silent_p.G728G|MARK3_ENST00000553942.1_Silent_p.G696G|MARK3_ENST00000416682.2_Silent_p.G704G	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	705	KA1. {ECO:0000255|PROSITE- ProRule:PRU00565}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			ACGGAGATGGGCACGCGGAGA	0.567																																						ENST00000429436.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2113-2115)ggG>ggA		MAP/microtubule affinity-regulating kinase 3							64.0	66.0	65.0					14																	103969417		2049	4216	6265	SO:0001819	synonymous_variant	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103969417G>A	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2115G>A	14.37:g.103969417G>A						MARK3_ENST00000553942.1_Silent_p.G696G|MARK3_ENST00000416682.2_Silent_p.G704G|MARK3_ENST00000440884.3_Silent_p.G611G|MARK3_ENST00000335102.5_Silent_p.G728G|MARK3_ENST00000303622.9_Silent_p.G681G|MARK3_ENST00000216288.7_Silent_p.G665G	p.G705G	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		18	2625	+		Melanoma(154;0.155)	705			KA1.		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Silent	SNP	ENST00000429436.2	37	c.2115G>A	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	G	0.192	-1.052427	0.01981	.	.	ENSG00000075413	ENST00000554627	T	0.42513	0.97	6.06	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22382	-1.0218	6	.	.	.	.	8.3926	0.32537	0.0706:0.0:0.6624:0.267	.	.	.	.	D	457	ENSP00000450460:G457D	.	G	+	2	0	MARK3	103039170	1.000000	0.71417	0.955000	0.39395	0.027000	0.11550	0.692000	0.25482	2.882000	0.98803	0.655000	0.94253	GGC		0.567	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		19	40	0	0	0	1	0	19	40				
MAGEB6	158809	broad.mit.edu	37	X	26212007	26212007	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chrX:26212007G>A	ENST00000379034.1	+	2	193	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	15										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGTGAGAAACGCCAAGAGACC	0.577																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(43-45)cGc>cAc		melanoma antigen family B, 6							81.0	67.0	72.0					X																	26212007		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212007G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.44G>A	X.37:g.26212007G>A	ENSP00000368320:p.Arg15His						p.R15H	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	193	+			15					Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.44G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615900	0.46631	.	.	ENSG00000176746	ENST00000379034	T	0.06608	3.28	2.58	1.7	0.24286	Melanoma associated antigen, MAGE, N-terminal (1);	1.264880	0.05817	N	0.615098	T	0.18676	0.0448	M	0.78916	2.43	0.09310	N	1	D	0.76494	0.999	P	0.57425	0.82	T	0.09952	-1.0651	10	0.54805	T	0.06	.	4.7277	0.12948	0.1875:0.0:0.8125:0.0	.	15	Q8N7X4	MAGB6_HUMAN	H	15	ENSP00000368320:R15H	ENSP00000368320:R15H	R	+	2	0	MAGEB6	26121928	0.000000	0.05858	0.005000	0.12908	0.081000	0.17604	-0.420000	0.07062	0.495000	0.27882	0.594000	0.82650	CGC		0.577	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		18	4	0	0	0	1	0	18	4				
FLRT2	23768	broad.mit.edu	37	14	86089446	86089446	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr14:86089446G>A	ENST00000330753.4	+	2	2355	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	FLRT2_ENST00000554746.1_Missense_Mutation_p.E530K	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	530					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTCCAGCCATGAGCAGACGAC	0.577																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1588-1590)Gag>Aag		fibronectin leucine rich transmembrane protein 2							98.0	98.0	98.0					14																	86089446		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089446G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1588G>A	14.37:g.86089446G>A	ENSP00000332879:p.Glu530Lys					FLRT2_ENST00000554746.1_Missense_Mutation_p.E530K	p.E530K	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2355	+			530					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1588G>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900144	0.72754	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.58940	0.3;0.3	6.17	6.17	0.99709	.	0.048833	0.85682	D	0.000000	T	0.59059	0.2166	L	0.54323	1.7	0.80722	D	1	P	0.46987	0.888	B	0.41374	0.355	T	0.62282	-0.6887	10	0.62326	D	0.03	-23.0933	20.8794	0.99867	0.0:0.0:1.0:0.0	.	530	O43155	FLRT2_HUMAN	K	530;530;183	ENSP00000332879:E530K;ENSP00000451050:E530K	ENSP00000332879:E530K	E	+	1	0	FLRT2	85159199	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	9.867000	0.99620	2.941000	0.99782	0.655000	0.94253	GAG		0.577	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			4	105	0	0	0	1	0	4	105				
FNDC7	163479	broad.mit.edu	37	1	109268475	109268475	+	Silent	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:109268475G>A	ENST00000370017.3	+	6	1237	c.960G>A	c.(958-960)gtG>gtA	p.V320V	FNDC7_ENST00000271311.2_Silent_p.V321V	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	320	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TGGTCTTTGTGAAGAGTGATG	0.468																																						ENST00000370017.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(958-960)gtG>gtA		fibronectin type III domain containing 7							215.0	189.0	198.0					1																	109268475		2203	4300	6503	SO:0001819	synonymous_variant	163479					extracellular region		g.chr1:109268475G>A		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.960G>A	1.37:g.109268475G>A						FNDC7_ENST00000271311.2_Silent_p.V321V	p.V320V	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	6	1237	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	321			Fibronectin type-III 4.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	ENST00000370017.3	37	c.960G>A	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	G	9.382	1.073225	0.20147	.	.	ENSG00000143107	ENST00000445274	.	.	.	5.9	4.99	0.66335	.	.	.	.	.	T	0.52175	0.1718	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54337	-0.8309	4	.	.	.	-12.8694	11.8051	0.52150	0.0668:0.1233:0.8099:0.0	.	.	.	.	K	96	.	.	E	+	1	0	FNDC7	109069998	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.547000	0.36190	1.509000	0.48786	0.655000	0.94253	GAA		0.468	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		29	96	0	0	0	1	0	29	96				
TRMT11	60487	broad.mit.edu	37	6	126319277	126319277	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr6:126319277G>C	ENST00000334379.5	+	4	412	c.291G>C	c.(289-291)aaG>aaC	p.K97N	TRMT11_ENST00000450358.1_Missense_Mutation_p.K97N|TRMT11_ENST00000368332.3_Missense_Mutation_p.K97N	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	97					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CTGTGGAGAAGATGGTGCGTA	0.358																																						ENST00000334379.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(289-291)aaG>aaC		tRNA methyltransferase 11 homolog (S. cerevisiae)							118.0	122.0	120.0					6																	126319277		2203	4300	6503	SO:0001583	missense	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126319277G>C	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.291G>C	6.37:g.126319277G>C	ENSP00000333934:p.Lys97Asn					TRMT11_ENST00000450358.1_Missense_Mutation_p.K97N|TRMT11_ENST00000368332.3_Missense_Mutation_p.K97N	p.K97N	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	4	412	+			97					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	ENST00000334379.5	37	c.291G>C	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	G	8.727	0.915710	0.17907	.	.	ENSG00000066651	ENST00000334379;ENST00000450358;ENST00000368332;ENST00000444121;ENST00000446681	T;T;T	0.46819	0.86;0.86;0.86	5.71	5.71	0.89125	.	0.230214	0.51477	D	0.000095	T	0.14313	0.0346	N	0.17312	0.475	0.47905	D	0.999549	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.002	T	0.13442	-1.0509	10	0.16420	T	0.52	-20.7359	8.9524	0.35796	0.0736:0.0:0.7773:0.1491	.	97;97	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	N	97;97;97;34;34	ENSP00000333934:K97N;ENSP00000405140:K97N;ENSP00000357316:K97N	ENSP00000333934:K97N	K	+	3	2	TRMT11	126360970	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	1.760000	0.38430	2.685000	0.91497	0.563000	0.77884	AAG		0.358	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		13	77	0	0	0	1	0	13	77				
ANKRD30A	91074	broad.mit.edu	37	10	37421250	37421250	+	Missense_Mutation	SNP	C	C	T	rs61737413		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:37421250C>T	ENST00000602533.1	+	4	524	c.425C>T	c.(424-426)gCg>gTg	p.A142V	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A142V|RNU6-811P_ENST00000384069.1_RNA|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A142V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	198					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATGCAAATGCGAATGCAGTT	0.299																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(424-426)gCg>gTg		ankyrin repeat domain 30A		C	VAL/ALA	0,3584		0,0,1792	57.0	54.0	55.0		425	-0.1	0.0	10	dbSNP_129	55	3,8107		0,3,4052	no	missense	ANKRD30A	NM_052997.2	64	0,3,5844	TT,TC,CC		0.037,0.0,0.0257	probably-damaging	142/1342	37421250	3,11691	1792	4055	5847	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37421250C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.425C>T	10.37:g.37421250C>T	ENSP00000473551:p.Ala142Val					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A142V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A142V	p.A142V			Q9BXX3	AN30A_HUMAN			4	524	+			198					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.425C>T		.	.	.	.	.	.	.	.	.	.	.	0.634	-0.816087	0.02776	0.0	3.7E-4	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.67171	-0.25;0.22	2.37	-0.141	0.13452	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.40145	0.1105	N	0.00395	-1.55	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.44742	-0.9308	9	0.05351	T	0.99	.	4.4189	0.11470	0.0:0.3455:0.0:0.6545	rs61737413	198	Q9BXX3	AN30A_HUMAN	V	142	ENSP00000354432:A142V;ENSP00000363792:A142V	ENSP00000354432:A142V	A	+	2	0	ANKRD30A	37461256	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.084000	0.14891	-0.273000	0.09246	0.289000	0.19496	GCG		0.299	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		22	76	0	0	0	1	0	22	76				
VSTM4	196740	broad.mit.edu	37	10	50315736	50315736	+	Silent	SNP	G	G	A	rs143117054	byFrequency	TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:50315736G>A	ENST00000332853.4	-	2	383	c.360C>T	c.(358-360)tcC>tcT	p.S120S	VSTM4_ENST00000298454.3_Silent_p.S120S	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	120	Ig-like.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GCCCTTGATCGGAGGGCTGCA	0.617													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17993	0.0		0.0	False		,,,				2504	0.0					ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(358-360)tcC>tcT		V-set and transmembrane domain containing 4		G	,	5,4401	9.9+/-24.2	0,5,2198	104.0	101.0	102.0		360,360	-11.9	0.0	10	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VSTM4	NM_001031746.3,NM_144984.2	,	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	,	120/321,120/192	50315736	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	196740					integral to membrane|plasma membrane		g.chr10:50315736G>A	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.360C>T	10.37:g.50315736G>A						VSTM4_ENST00000298454.3_Silent_p.S120S	p.S120S	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			2	383	-			120			Ig-like.		B4DNI6|Q96MX7	Silent	SNP	ENST00000332853.4	37	c.360C>T	CCDS31198.1																																																																																				0.617	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		4	76	0	0	0	1	0	4	76				
PLEKHF1	79156	broad.mit.edu	37	19	30165019	30165019	+	Silent	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:30165019G>A	ENST00000436066.3	+	2	739	c.273G>A	c.(271-273)ccG>ccA	p.P91P	PLEKHF1_ENST00000592810.1_Silent_p.P91P	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	91	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|endosome organization (GO:0007032)|positive regulation of autophagy (GO:0010508)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein localization to plasma membrane (GO:0072659)|vesicle organization (GO:0016050)	endosome membrane (GO:0010008)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			AGCTGTTGCCGGAGACGCTGC	0.592																																						ENST00000436066.3																			0				breast(1)|lung(3)|ovary(1)|prostate(1)	6						c.(271-273)ccG>ccA		pleckstrin homology domain containing, family F (with FYVE domain) member 1							82.0	75.0	78.0					19																	30165019		2203	4300	6503	SO:0001819	synonymous_variant	79156				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr19:30165019G>A	AF434818	CCDS12417.1	19q11	2013-01-10				ENSG00000166289		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20764	protein-coding gene	gene with protein product		615200					Standard	NM_024310		Approved	APPD, MGC4090, PHAFIN1, ZFYVE15	uc002nsh.4	Q96S99		ENST00000436066.3:c.273G>A	19.37:g.30165019G>A						PLEKHF1_ENST00000592810.1_Silent_p.P91P	p.P91P	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)		2	739	+	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		91			PH.		Q96K11|Q9BUB9	Silent	SNP	ENST00000436066.3	37	c.273G>A	CCDS12417.1																																																																																				0.592	PLEKHF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459323.1	NM_024310		4	66	0	0	0	1	0	4	66				
PCDHGB6	56100	broad.mit.edu	37	5	140789302	140789302	+	Silent	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr5:140789302C>T	ENST00000520790.1	+	1	1533	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCAGAGCGGGGTGGTGT	0.662																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(1531-1533)agC>agT									21.0	23.0	22.0					5																	140789302		2024	4171	6195	SO:0001819	synonymous_variant	0							g.chr5:140789302C>T	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1533C>T	5.37:g.140789302C>T						PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	p.S511S	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1533	+								Q9Y5C5	Silent	SNP	ENST00000520790.1	37	c.1533C>T	CCDS54929.1																																																																																				0.662	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		7	30	0	0	0	1	0	7	30				
PXDNL	137902	broad.mit.edu	37	8	52336238	52336238	+	Silent	SNP	C	C	T	rs370914039		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:52336238C>T	ENST00000356297.4	-	14	1792	c.1692G>A	c.(1690-1692)acG>acA	p.T564T	PXDNL_ENST00000543296.1_Silent_p.T564T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	564	Ig-like C2-type 4.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGATAGTCAGCGTGCCTTCAT	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15550	0.0		0.0	False		,,,				2504	0.0					ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1690-1692)acG>acA		peroxidasin homolog (Drosophila)-like							120.0	129.0	126.0					8																	52336238		2167	4277	6444	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52336238C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1692G>A	8.37:g.52336238C>T						PXDNL_ENST00000543296.1_Silent_p.T564T	p.T564T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			14	1792	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	564			Ig-like C2-type 4.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.1692G>A	CCDS47855.1																																																																																				0.463	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		12	25	0	0	0	1	0	12	25				
COL22A1	169044	broad.mit.edu	37	8	139661957	139661957	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:139661957T>C	ENST00000303045.6	-	46	3844	c.3398A>G	c.(3397-3399)gAc>gGc	p.D1133G	COL22A1_ENST00000435777.1_Missense_Mutation_p.D1113G|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1133	Collagen-like 10.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GACACCTTTGTCCCCTTTAAA	0.498										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3397-3399)gAc>gGc		collagen, type XXII, alpha 1							87.0	73.0	77.0					8																	139661957		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139661957T>C	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3398A>G	8.37:g.139661957T>C	ENSP00000303153:p.Asp1133Gly	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.D1113G|COL22A1_ENST00000341807.4_5'UTR	p.D1133G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		46	3844	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1133			Collagen-like 10.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3398A>G	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.955645	0.34471	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94138	-3.36;-3.18	5.12	5.12	0.69794	.	0.000000	0.47455	U	0.000225	D	0.95316	0.8480	M	0.64997	1.995	0.50467	D	0.999872	D;D	0.69078	0.996;0.997	D;D	0.83275	0.993;0.996	D	0.93916	0.7201	10	0.26408	T	0.33	.	12.8597	0.57906	0.0:0.0:0.0:1.0	.	1113;1133	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	G	1133;1113;826	ENSP00000303153:D1133G;ENSP00000387655:D1113G	ENSP00000303153:D1133G	D	-	2	0	COL22A1	139731139	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.438000	0.66550	1.921000	0.55644	0.379000	0.24179	GAC		0.498	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		26	52	0	0	0	1	0	26	52				
TMPRSS2	7113	broad.mit.edu	37	21	42840428	42840428	+	Silent	SNP	A	A	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr21:42840428A>C	ENST00000332149.5	-	12	1343	c.1209T>G	c.(1207-1209)ctT>ctG	p.L403L	TMPRSS2_ENST00000398585.3_Silent_p.L440L|TMPRSS2_ENST00000458356.1_Silent_p.L403L	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	403	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TCTCAATGAGAAGCACCTTGG	0.537			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	"""ERG, ETV1, ETV4, ETV5"""		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1318-1320)ctT>ctG		transmembrane protease, serine 2							187.0	141.0	157.0					21																	42840428		2203	4300	6503	SO:0001819	synonymous_variant	0				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42840428A>C	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.1209T>G	21.37:g.42840428A>C						TMPRSS2_ENST00000458356.1_Silent_p.L403L|TMPRSS2_ENST00000332149.5_Silent_p.L403L	p.L440L	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			12	1380	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	403			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Silent	SNP	ENST00000332149.5	37	c.1320T>G	CCDS33564.1																																																																																				0.537	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			17	31	0	0	0	1	0	17	31				
NBPF1	55672	broad.mit.edu	37	1	16913590	16913590	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:16913590C>T	ENST00000430580.2	-	11	1620	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	245	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGAGAGGATTCTCTGTCTACA	0.438																																						ENST00000430580.2																			0											c.(733-735)Gaa>Aaa		neuroblastoma breakpoint family, member 1							396.0	346.0	363.0					1																	16913590		2194	4287	6481	SO:0001583	missense	55672					cytoplasm		g.chr1:16913590C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.733G>A	1.37:g.16913590C>T	ENSP00000474456:p.Glu245Lys						p.E245K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	11	1620	-			245			NBPF 1.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.733G>A																																																																																					0.438	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		117	282	0	0	0	1	0	117	282				
EIF2B5	8893	broad.mit.edu	37	3	183862680	183862680	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:183862680G>T	ENST00000273783.3	+	16	2237	c.2115G>T	c.(2113-2115)agG>agT	p.R705S	EIF2B5_ENST00000444495.1_Intron	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	705	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGCTGCAGAGGTTCATCCAGT	0.542																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(2113-2115)agG>agT		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							67.0	66.0	66.0					3																	183862680		2203	4300	6503	SO:0001583	missense	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183862680G>T	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.2115G>T	3.37:g.183862680G>T	ENSP00000273783:p.Arg705Ser					EIF2B5_ENST00000444495.1_Intron	p.R705S	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		16	2237	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		705			W2.		Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	c.2115G>T	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	12.90	2.077260	0.36662	.	.	ENSG00000145191	ENST00000273783	T	0.79653	-1.29	5.9	3.89	0.44902	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.250941	0.44285	D	0.000471	T	0.68997	0.3062	L	0.31752	0.955	0.80722	D	1	B	0.23854	0.092	B	0.21151	0.033	T	0.63418	-0.6642	10	0.18710	T	0.47	.	13.8548	0.63519	0.0:0.1111:0.7607:0.1281	.	705	Q13144	EI2BE_HUMAN	S	705	ENSP00000273783:R705S	ENSP00000273783:R705S	R	+	3	2	EIF2B5	185345374	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.234000	0.51320	1.468000	0.48064	0.655000	0.94253	AGG		0.542	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			7	39	1	0	0.00307968	1	0.00320624	7	39				
ACSM2B	348158	broad.mit.edu	37	16	20548593	20548593	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr16:20548593G>A	ENST00000329697.6	-	14	1889	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	ACSM2B_ENST00000567001.1_Missense_Mutation_p.A574V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A574V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A495V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	574					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGCGCACGGGCTTTTCCGGA	0.463																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1720-1722)gCc>gTc		acyl-CoA synthetase medium-chain family member 2B							256.0	234.0	241.0					16																	20548593		2202	4300	6502	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20548593G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1721C>T	16.37:g.20548593G>A	ENSP00000327453:p.Ala574Val					ACSM2B_ENST00000567001.1_Missense_Mutation_p.A574V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A574V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A495V	p.A574V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			14	1889	-			574					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1721C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	9.684	1.149966	0.21371	.	.	ENSG00000066813	ENST00000329697	T	0.47528	0.84	2.53	0.445	0.16597	.	1.337660	0.05756	U	0.604017	T	0.33411	0.0862	N	0.08118	0	0.09310	N	1	B	0.34181	0.44	B	0.43413	0.419	T	0.40515	-0.9559	10	0.62326	D	0.03	-1.4649	3.4189	0.07386	0.3829:0.2026:0.4145:0.0	.	574	Q68CK6	ACS2B_HUMAN	V	574	ENSP00000327453:A574V	ENSP00000327453:A574V	A	-	2	0	ACSM2B	20456094	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.093000	0.11111	0.135000	0.18707	0.609000	0.83330	GCC		0.463	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		5	252	0	0	0	1	0	5	252				
RNF214	257160	broad.mit.edu	37	11	117152850	117152850	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr11:117152850C>T	ENST00000531452.1	+	11	1622	c.1576C>T	c.(1576-1578)Ccc>Tcc	p.P526S	RNF214_ENST00000530849.1_Missense_Mutation_p.P371S|RNF214_ENST00000300650.4_Missense_Mutation_p.P526S|RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531287.1_Missense_Mutation_p.P371S	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	526	Pro-rich.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TCCACACATGCCCCCTGCCGC	0.627																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1111-1113)Ccc>Tcc		ring finger protein 214							94.0	102.0	99.0					11																	117152850		1918	4109	6027	SO:0001583	missense	257160						zinc ion binding	g.chr11:117152850C>T	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1576C>T	11.37:g.117152850C>T	ENSP00000431643:p.Pro526Ser					RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531452.1_Missense_Mutation_p.P526S|RNF214_ENST00000300650.4_Missense_Mutation_p.P526S|RNF214_ENST00000531287.1_Missense_Mutation_p.P371S	p.P371S			Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	10	1121	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	526					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.1111C>T	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	C	8.690	0.907301	0.17833	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650;ENST00000534709	T;T;T;T	0.57752	2.35;0.38;0.38;0.38	5.39	0.788	0.18601	.	0.335208	0.31358	N	0.007786	T	0.24812	0.0602	N	0.17082	0.46	0.26975	N	0.965486	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.03503	-1.1030	10	0.16420	T	0.52	-1.2966	0.681	0.00875	0.2865:0.2777:0.2509:0.1848	.	371;526	B4DTD1;Q8ND24	.;RN214_HUMAN	S	371;526;371;526;78	ENSP00000435361:P371S;ENSP00000431643:P526S;ENSP00000432903:P371S;ENSP00000300650:P526S	ENSP00000300650:P526S	P	+	1	0	RNF214	116658060	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.308000	0.19314	0.615000	0.30124	0.561000	0.74099	CCC		0.627	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		4	130	0	0	0	1	0	4	130				
RCAN3	11123	broad.mit.edu	37	1	24861593	24861593	+	Silent	SNP	T	T	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:24861593T>C	ENST00000374395.4	+	5	865	c.552T>C	c.(550-552)taT>taC	p.Y184Y	RCAN3_ENST00000412742.2_Missense_Mutation_p.M127T|RCAN3_ENST00000538532.1_Silent_p.Y126Y|RCAN3_ENST00000436717.2_Silent_p.Y174Y|RCAN3_ENST00000374393.2_Missense_Mutation_p.M69T	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	184					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GAGAGAAATATGAACTTCACG	0.423																																						ENST00000412742.2																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7						c.(379-381)aTg>aCg		RCAN family member 3							39.0	41.0	40.0					1																	24861593		2203	4300	6503	SO:0001819	synonymous_variant	11123				anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	g.chr1:24861593T>C		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.552T>C	1.37:g.24861593T>C						RCAN3_ENST00000374395.4_Silent_p.Y184Y|RCAN3_ENST00000538532.1_Silent_p.Y126Y|RCAN3_ENST00000374393.2_Missense_Mutation_p.M69T|RCAN3_ENST00000436717.2_Silent_p.Y174Y	p.M127T	NM_001251982.1	NP_001238911.1	Q9UKA8	RCAN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	3	433	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	127					A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	ENST00000374395.4	37	c.380T>C	CCDS254.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.572261	0.00887	.	.	ENSG00000117602	ENST00000412742;ENST00000374393	.	.	.	5.54	-4.89	0.03103	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.23010	N	0.998433	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42292	-0.9460	7	0.02654	T	1	-28.7151	16.3903	0.83532	0.0:0.3043:0.0:0.6957	.	69;127	E7EWD8;E7ENV1	.;.	T	127;69	.	ENSP00000363514:M69T	M	+	2	0	RCAN3	24734180	0.000000	0.05858	0.846000	0.33378	0.362000	0.29581	-2.281000	0.01157	-1.002000	0.03429	-0.146000	0.13790	ATG		0.423	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			8	21	0	0	0	1	0	8	21				
SLFN5	162394	broad.mit.edu	37	17	33586319	33586319	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr17:33586319G>T	ENST00000299977.4	+	2	758	c.610G>T	c.(610-612)Gtg>Ttg	p.V204L	SLFN5_ENST00000592325.1_Missense_Mutation_p.V204L|SLFN5_ENST00000542451.1_Missense_Mutation_p.V204L	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	204					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CTCGACAGACGTGTCACACTG	0.408																																						ENST00000299977.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(610-612)Gtg>Ttg		schlafen family member 5							175.0	164.0	168.0					17																	33586319		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33586319G>T	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.610G>T	17.37:g.33586319G>T	ENSP00000299977:p.Val204Leu					SLFN5_ENST00000592325.1_Missense_Mutation_p.V204L|SLFN5_ENST00000542451.1_Missense_Mutation_p.V204L	p.V204L	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	2	758	+		Ovarian(249;0.17)	204					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.610G>T	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.309754	0.01342	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.28255	1.62;1.62	3.55	-2.34	0.06704	.	1.128570	0.07121	N	0.843837	T	0.11707	0.0285	N	0.04355	-0.22	0.09310	N	1	B;B;B	0.12013	0.005;0.002;0.001	B;B;B	0.13407	0.009;0.004;0.004	T	0.28618	-1.0038	10	0.20519	T	0.43	.	4.0803	0.09922	0.3436:0.2736:0.3828:0.0	.	204;204;204	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	L	204	ENSP00000299977:V204L;ENSP00000440537:V204L	ENSP00000299977:V204L	V	+	1	0	SLFN5	30610432	0.000000	0.05858	0.003000	0.11579	0.116000	0.19942	-0.646000	0.05403	-0.512000	0.06505	0.563000	0.77884	GTG		0.408	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		6	181	1	0	5.9392e-07	1	6.35745e-07	6	181				
SAFB	6294	broad.mit.edu	37	19	5664408	5664408	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:5664408G>T	ENST00000292123.5	+	17	2399	c.2292G>T	c.(2290-2292)agG>agT	p.R764S	SAFB_ENST00000588852.1_Splice_Site_p.R764S|SAFB_ENST00000538656.1_Splice_Site_p.R606S|SAFB_ENST00000433404.1_Splice_Site_p.R594S|SAFB_ENST00000454510.1_Splice_Site_p.R695S|SAFB_ENST00000592224.1_Splice_Site_p.R763S	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	764	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCCTTTTCAGGAGAGAAGGTT	0.448																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.e17-1		scaffold attachment factor B							88.0	86.0	87.0					19																	5664408		2203	4300	6503	SO:0001630	splice_region_variant	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5664408G>T	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2292-1G>T	19.37:g.5664408G>T						SAFB_ENST00000433404.1_Splice_Site_p.R594_splice|SAFB_ENST00000592224.1_Splice_Site_p.R763_splice|SAFB_ENST00000538656.1_Splice_Site_p.R606_splice|SAFB_ENST00000454510.1_Splice_Site_p.R695_splice|SAFB_ENST00000588852.1_Splice_Site_p.R764_splice	p.R764_splice	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	17	2399	+			764			Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Splice_Site	SNP	ENST00000292123.5	37	c.2291_splice	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909565	0.52439	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.12147	2.76;2.94;2.72;2.71	5.04	5.04	0.67666	.	0.000000	0.56097	D	0.000023	T	0.34424	0.0897	M	0.79123	2.44	0.80722	D	1	D;P;P;P;P;P;P	0.58268	0.982;0.948;0.939;0.9;0.9;0.9;0.9	P;P;P;P;P;P;P	0.58130	0.833;0.452;0.654;0.452;0.452;0.452;0.452	T	0.06516	-1.0822	9	.	.	.	.	16.5634	0.84572	0.0:0.0:1.0:0.0	.	563;606;695;763;764;764;763	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	S	695;659;594;764;606	ENSP00000415895:R695S;ENSP00000404545:R594S;ENSP00000292123:R764S;ENSP00000438880:R606S	.	R	+	3	2	SAFB	5615408	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	4.796000	0.62496	2.492000	0.84095	0.655000	0.94253	AGG		0.448	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2		Missense_Mutation	8	28	1	0	0.00448238	1	0.00460353	8	28				
WRAP73	49856	broad.mit.edu	37	1	3548112	3548112	+	Silent	SNP	C	C	T	rs565082127		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:3548112C>T	ENST00000270708.7	-	11	1231	c.1158G>A	c.(1156-1158)ccG>ccA	p.P386P	WRAP73_ENST00000378322.3_Silent_p.P386P	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	386						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						TGGCCAGCCGCGGCTGCTGCG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		15995	0.001		0.0	False		,,,				2504	0.0					ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(1156-1158)ccG>ccA		WD repeat containing, antisense to TP73							21.0	23.0	22.0					1																	3548112		2193	4286	6479	SO:0001819	synonymous_variant	49856					centrosome	protein binding	g.chr1:3548112C>T	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.1158G>A	1.37:g.3548112C>T						WRAP73_ENST00000270708.7_Silent_p.P386P	p.P386P			Q9P2S5	WRP73_HUMAN			11	1216	-			386					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Silent	SNP	ENST00000270708.7	37	c.1158G>A	CCDS48.1																																																																																				0.662	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			7	12	0	0	0	1	0	7	12				
KLHL2	11275	broad.mit.edu	37	4	166218865	166218865	+	Silent	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr4:166218865A>G	ENST00000226725.6	+	7	1018	c.759A>G	c.(757-759)gaA>gaG	p.E253E	KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Silent_p.E156E|KLHL2_ENST00000514860.1_Silent_p.E257E|KLHL2_ENST00000506761.1_Silent_p.E87E|KLHL2_ENST00000538127.1_Silent_p.E165E	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	253					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TTCCTCGGGAATATTTAGTTC	0.443																																						ENST00000226725.6																			0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(757-759)gaA>gaG		kelch-like family member 2							131.0	105.0	114.0					4																	166218865		2203	4300	6503	SO:0001819	synonymous_variant	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166218865A>G	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.759A>G	4.37:g.166218865A>G						KLHL2_ENST00000506761.1_Silent_p.E87E|KLHL2_ENST00000538127.1_Silent_p.E165E|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Silent_p.E257E|KLHL2_ENST00000421009.2_Silent_p.E156E	p.E253E	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	7	1018	+	all_hematologic(180;0.221)		253					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Silent	SNP	ENST00000226725.6	37	c.759A>G	CCDS34094.1																																																																																				0.443	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			5	67	0	0	0	1	0	5	67				
RTP1	132112	broad.mit.edu	37	3	186917530	186917530	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:186917530A>C	ENST00000312295.4	+	2	494	c.464A>C	c.(463-465)gAc>gCc	p.D155A	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	155					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GGCCTGGTGGACAACCTCATC	0.677																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(463-465)gAc>gCc		receptor (chemosensory) transporter protein 1							28.0	27.0	27.0					3																	186917530		2203	4298	6501	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917530A>C	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.464A>C	3.37:g.186917530A>C	ENSP00000311712:p.Asp155Ala					RP11-208N14.4_ENST00000356133.3_RNA	p.D155A	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	494	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		155						Missense_Mutation	SNP	ENST00000312295.4	37	c.464A>C	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979865	0.74360	.	.	ENSG00000175077	ENST00000312295	T	0.21543	2.0	5.7	4.54	0.55810	.	0.237500	0.48767	D	0.000175	T	0.29158	0.0725	L	0.47716	1.5	0.28240	N	0.925721	D	0.54964	0.969	P	0.55455	0.776	T	0.07347	-1.0777	10	0.42905	T	0.14	.	8.673	0.34163	0.9136:0.0:0.0864:0.0	.	155	P59025	RTP1_HUMAN	A	155	ENSP00000311712:D155A	ENSP00000311712:D155A	D	+	2	0	RTP1	188400224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.956000	0.56722	0.996000	0.38943	0.459000	0.35465	GAC		0.677	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		6	29	0	0	0	1	0	6	29				
GUCY2C	2984	broad.mit.edu	37	12	14772196	14772196	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr12:14772196G>C	ENST00000261170.3	-	24	2960	c.2824C>G	c.(2824-2826)Cta>Gta	p.L942V	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	942	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TCTCCAAATAGACAATAACGA	0.473																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2824-2826)Cta>Gta		guanylate cyclase 2C (heat stable enterotoxin receptor)							133.0	124.0	127.0					12																	14772196		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14772196G>C		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2824C>G	12.37:g.14772196G>C	ENSP00000261170:p.Leu942Val					RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	p.L942V	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			24	2960	-			942			Guanylate cyclase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.2824C>G	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245494	0.80024	.	.	ENSG00000070019	ENST00000261170	T	0.79845	-1.31	5.29	5.29	0.74685	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87407	0.2373	10	0.87932	D	0	.	10.1593	0.42842	0.1228:0.0:0.8772:0.0	.	942	P25092	GUC2C_HUMAN	V	942	ENSP00000261170:L942V	ENSP00000261170:L942V	L	-	1	2	GUCY2C	14663463	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.630000	0.61297	2.466000	0.83321	0.655000	0.94253	CTA		0.473	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			5	109	0	0	0	1	0	5	109				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	56	0	0	0	1	0	3	56				
USP47	55031	broad.mit.edu	37	11	11963959	11963959	+	Silent	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr11:11963959G>A	ENST00000399455.2	+	21	2571	c.2451G>A	c.(2449-2451)cgG>cgA	p.R817R	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Silent_p.R729R|USP47_ENST00000527733.1_Silent_p.R797R	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	817					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TCCTGGATCGGCATGCAAATA	0.413																																						ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2185-2187)cgG>cgA		ubiquitin specific peptidase 47							122.0	112.0	115.0					11																	11963959		1847	4084	5931	SO:0001819	synonymous_variant	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11963959G>A	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2451G>A	11.37:g.11963959G>A						USP47_ENST00000399455.2_Silent_p.R817R|USP47_ENST00000527733.1_Silent_p.R797R|USP47_ENST00000539466.1_5'UTR	p.R729R	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	19	2950	+			817					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP	ENST00000399455.2	37	c.2187G>A																																																																																					0.413	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		4	143	0	0	0	1	0	4	143				
SGK3	23678	broad.mit.edu	37	8	67755708	67755708	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:67755708A>G	ENST00000396596.1	+	14	1214	c.1000A>G	c.(1000-1002)Aga>Gga	p.R334G	SGK3_ENST00000521435.1_3'UTR|SGK3_ENST00000521198.2_Missense_Mutation_p.R334G|SGK3_ENST00000522398.1_Missense_Mutation_p.R334G|SGK3_ENST00000520976.1_Intron|SGK3_ENST00000345714.4_Missense_Mutation_p.R334G|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.R334G	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	334	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGAAGTAATTAGAAAACAGCC	0.313																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(1000-1002)Aga>Gga		serum/glucocorticoid regulated kinase family, member 3							141.0	136.0	138.0					8																	67755708		2203	4300	6503	SO:0001583	missense	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67755708A>G		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.1000A>G	8.37:g.67755708A>G	ENSP00000379842:p.Arg334Gly					SGK3_ENST00000345714.4_Missense_Mutation_p.R334G|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.R334G|SGK3_ENST00000520976.1_Intron|SGK3_ENST00000522398.1_Missense_Mutation_p.R334G|SGK3_ENST00000521198.2_Missense_Mutation_p.R334G|SGK3_ENST00000521435.1_3'UTR	p.R334G	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		14	1214	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	334			Protein kinase.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	c.1000A>G	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.825954	0.50739	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000396596;ENST00000345714	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.11	3.87	0.44632	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.251367	0.45606	D	0.000351	T	0.59004	0.2162	N	0.25031	0.7	0.41070	D	0.985449	B	0.29936	0.262	P	0.45119	0.47	T	0.66917	-0.5802	9	0.45353	T	0.12	.	6.6086	0.22739	0.7651:0.1563:0.0787:0.0	.	334	Q96BR1	SGK3_HUMAN	G	334	ENSP00000429022:R334G;ENSP00000430463:R334G;ENSP00000430256:R334G;ENSP00000379842:R334G;ENSP00000331816:R334G	ENSP00000262211:R334G	R	+	1	2	SGK3	67918262	0.987000	0.35691	1.000000	0.80357	0.991000	0.79684	1.856000	0.39389	2.039000	0.60335	0.454000	0.30748	AGA		0.313	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			6	70	0	0	0	1	0	6	70				
SYNJ2	8871	broad.mit.edu	37	6	158495667	158495667	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr6:158495667G>A	ENST00000355585.4	+	16	2264	c.2189G>A	c.(2188-2190)cGc>cAc	p.R730H	SYNJ2_ENST00000367121.3_Missense_Mutation_p.R730H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R730H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	730					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTCAACTACCGCATTGATCTT	0.358																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2188-2190)cGc>cAc		synaptojanin 2							123.0	116.0	118.0					6																	158495667		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158495667G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2189G>A	6.37:g.158495667G>A	ENSP00000347792:p.Arg730His					SYNJ2_ENST00000367122.2_Missense_Mutation_p.R730H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R730H	p.R730H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	16	2264	+			730					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.2189G>A	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	35	5.500906	0.96371	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	D;D;D	0.96265	-3.96;-3.96;-3.96	5.9	5.9	0.94986	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.107616	0.40818	N	0.001011	D	0.98957	0.9645	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96920	0.9673	10	0.87932	D	0	.	20.331	0.98715	0.0:0.0:1.0:0.0	.	730;730	O15056;O15056-3	SYNJ2_HUMAN;.	H	730	ENSP00000356089:R730H;ENSP00000356088:R730H;ENSP00000347792:R730H	ENSP00000347792:R730H	R	+	2	0	SYNJ2	158415655	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	9.594000	0.98254	0.362000	0.24319	-0.188000	0.12872	CGC		0.358	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			4	71	0	0	0	1	0	4	71				
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C	rs200387712		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr7:100350361T>C	ENST00000348028.3	+	0	2798				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							331.0	375.0	361.0					7																	100350361		1881	4106	5987			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350361T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350361T>C						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2781	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	5.922	0.354238	0.11182	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.61392	0.11;0.11;0.11	3.16	1.24	0.21308	.	1.200500	0.06499	N	0.736017	T	0.29028	0.0721	N	0.01874	-0.695	0.20403	N	0.999901	B;B	0.14805	0.011;0.01	B;B	0.16722	0.016;0.007	T	0.18777	-1.0326	10	0.30854	T	0.27	.	4.9933	0.14226	0.0:0.6075:0.1758:0.2167	.	878;878	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	878	ENSP00000445943:L878P;ENSP00000445091:L878P;ENSP00000444427:L878P	ENSP00000423579:L878P	L	+	2	0	ZAN	100188297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	0.035000	0.15519	-0.124000	0.14976	CTC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	118	0	0	0	1	0	5	118				
CUBN	8029	broad.mit.edu	37	10	17089577	17089577	+	Silent	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:17089577A>G	ENST00000377833.4	-	23	3230	c.3165T>C	c.(3163-3165)gaT>gaC	p.D1055D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1055	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGTCCCCAAATCATCTGTGT	0.373																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(3163-3165)gaT>gaC		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						86.0	79.0	81.0					10																	17089577		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17089577A>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3165T>C	10.37:g.17089577A>G							p.D1055D	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			23	3230	-			1055			CUB 6.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.3165T>C	CCDS7113.1																																																																																				0.373	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		11	55	0	0	0	1	0	11	55				
RAB24	53917	broad.mit.edu	37	5	176730101	176730101	+	Intron	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr5:176730101G>A	ENST00000303251.6	-	2	537				PRELID1_ENST00000503216.1_5'Flank|RAB24_ENST00000303270.6_Missense_Mutation_p.P3L|PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000393611.2_Intron	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family						autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAGAGATCGGGGCCATAGG	0.627																																						ENST00000303270.6																			0											c.(7-9)cCg>cTg		RAB24, member RAS oncogene family							35.0	39.0	38.0					5																	176730101		2203	4300	6503	SO:0001627	intron_variant	53917				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding	g.chr5:176730101G>A	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.118-23C>T	5.37:g.176730101G>A						RAB24_ENST00000303251.6_Intron|RAB24_ENST00000393611.2_Intron	p.P3L			Q969Q5	RAB24_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	610	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	0					Q7Z4Z7	Missense_Mutation	SNP	ENST00000303251.6	37	c.8C>T	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	G	9.498	1.102517	0.20632	.	.	ENSG00000169228	ENST00000303270	T	0.62105	0.05	4.6	-2.26	0.06867	.	.	.	.	.	T	0.45256	0.1333	.	.	.	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.39121	-0.9629	8	0.72032	D	0.01	.	5.495	0.16797	0.294:0.3201:0.3858:0.0	.	3	F8W8H5	.	L	3	ENSP00000302085:P3L	ENSP00000302085:P3L	P	-	2	0	RAB24	176662707	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	0.064000	0.14437	-0.312000	0.08741	-2.808000	0.00112	CCG		0.627	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781		5	9	0	0	0	1	0	5	9				
ARCN1	372	broad.mit.edu	37	11	118464315	118464315	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr11:118464315G>C	ENST00000264028.4	+	8	1238	c.1143G>C	c.(1141-1143)tgG>tgC	p.W381C	ARCN1_ENST00000359415.4_Missense_Mutation_p.W422C|ARCN1_ENST00000534182.2_Intron|RNU6-1157P_ENST00000384456.1_RNA|ARCN1_ENST00000392859.3_Missense_Mutation_p.W293C	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	381	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTAATTGCTGGCCCTCGGAGA	0.448																																						ENST00000359415.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(1264-1266)tgG>tgC		archain 1							95.0	85.0	88.0					11																	118464315		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118464315G>C	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.1143G>C	11.37:g.118464315G>C	ENSP00000264028:p.Trp381Cys					ARCN1_ENST00000392859.3_Missense_Mutation_p.W293C|ARCN1_ENST00000264028.4_Missense_Mutation_p.W381C|ARCN1_ENST00000534182.2_Intron	p.W422C			P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	9	1431	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	381			MHD.		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.1266G>C	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470290	0.84533	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.19669	2.13;2.13;2.13	5.95	5.95	0.96441	Clathrin adaptor, mu subunit, C-terminal (3);	0.104008	0.64402	D	0.000001	T	0.59985	0.2234	M	0.93062	3.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.981;0.999;0.997	T	0.68066	-0.5507	10	0.87932	D	0	-0.0143	20.3789	0.98926	0.0:0.0:1.0:0.0	.	293;422;381	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	C	293;422;381	ENSP00000376599:W293C;ENSP00000352385:W422C;ENSP00000264028:W381C	ENSP00000264028:W381C	W	+	3	0	ARCN1	117969525	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.417000	0.97391	2.826000	0.97356	0.563000	0.77884	TGG		0.448	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			8	43	0	0	0	1	0	8	43				
BTN3A3	10384	broad.mit.edu	37	6	26444283	26444283	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr6:26444283A>G	ENST00000244519.2	+	4	427	c.184A>G	c.(184-186)Acc>Gcc	p.T62A	BTN3A3_ENST00000361232.3_Missense_Mutation_p.T20A|BTN3A3_ENST00000339789.4_Missense_Mutation_p.T20A	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	62	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GAGTGCAGAGACCATGGAGCT	0.572																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(184-186)Acc>Gcc		butyrophilin, subfamily 3, member A3							232.0	195.0	208.0					6																	26444283		2201	4298	6499	SO:0001583	missense	10384					integral to membrane		g.chr6:26444283A>G	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.184A>G	6.37:g.26444283A>G	ENSP00000244519:p.Thr62Ala					BTN3A3_ENST00000361232.3_Missense_Mutation_p.T20A|BTN3A3_ENST00000339789.4_Missense_Mutation_p.T20A	p.T62A	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			4	427	+			62			Ig-like V-type 1.		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.184A>G	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	A	7.044	0.563131	0.13498	.	.	ENSG00000111801	ENST00000494393;ENST00000482451;ENST00000244519;ENST00000339789;ENST00000471353;ENST00000361232;ENST00000487627;ENST00000496719;ENST00000490254;ENST00000476281;ENST00000487272	T;T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	2.74	-5.47	0.02600	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21347	0.0514	N	0.25647	0.755	0.09310	N	1	P;P	0.44429	0.835;0.835	P;P	0.46685	0.524;0.524	T	0.17561	-1.0365	9	0.05959	T	0.93	.	7.9051	0.29757	0.297:0.5642:0.0:0.1388	.	20;62	E9PCP5;O00478	.;BT3A3_HUMAN	A	62;44;62;20;20;20;20;62;20;20;20	ENSP00000417234:T62A;ENSP00000419312:T44A;ENSP00000244519:T62A;ENSP00000344968:T20A;ENSP00000417717:T20A;ENSP00000355238:T20A;ENSP00000420339:T20A;ENSP00000420147:T62A;ENSP00000419736:T20A;ENSP00000419445:T20A	ENSP00000244519:T62A	T	+	1	0	BTN3A3	26552262	0.000000	0.05858	0.000000	0.03702	0.847000	0.48162	-3.121000	0.00595	-1.435000	0.01972	0.454000	0.30748	ACC		0.572	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		20	85	0	0	0	1	0	20	85				
COL14A1	7373	broad.mit.edu	37	8	121293158	121293158	+	Splice_Site	SNP	A	A	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:121293158A>T	ENST00000297848.3	+	31	3955		c.e31-1		COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTTTTTTTTTAGGATTTAAGA	0.269																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.e31-1		collagen, type XIV, alpha 1							31.0	32.0	31.0					8																	121293158		2203	4300	6503	SO:0001630	splice_region_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121293158A>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3686-1A>T	8.37:g.121293158A>T						COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site		NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		31	3955	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)								Splice_Site	SNP	ENST00000297848.3	37		CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959858	0.74016	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3317	0.83023	1.0:0.0:0.0:0.0	rs57400853	.	.	.	.	-1	.	.	.	+	.	.	COL14A1	121362339	1.000000	0.71417	0.932000	0.37286	0.726000	0.41606	9.309000	0.96252	2.264000	0.75181	0.533000	0.62120	.		0.269	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	Intron	4	27	0	0	0	1	0	4	27				
EPHB1	2047	broad.mit.edu	37	3	134670606	134670606	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:134670606T>G	ENST00000398015.3	+	3	887	c.517T>G	c.(517-519)Ttt>Gtt	p.F173V	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	173	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCGGAATGGTTTTTACCTCGC	0.463																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(517-519)Ttt>Gtt		EPH receptor B1							250.0	242.0	245.0					3																	134670606		1932	4151	6083	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670606T>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.517T>G	3.37:g.134670606T>G	ENSP00000381097:p.Phe173Val					EPHB1_ENST00000488154.1_Intron	p.F173V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			3	887	+			173					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.517T>G	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382584	0.82792	.	.	ENSG00000154928	ENST00000398015	T	0.12147	2.71	5.49	5.49	0.81192	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	L	0.58810	1.83	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.01771	-1.1277	9	.	.	.	.	15.6027	0.76636	0.0:0.0:0.0:1.0	.	173	P54762	EPHB1_HUMAN	V	173	ENSP00000381097:F173V	.	F	+	1	0	EPHB1	136153296	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.085000	0.62840	0.533000	0.62120	TTT		0.463	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		9	164	0	0	0	1	0	9	164				
ADAMTS20	80070	broad.mit.edu	37	12	43819450	43819450	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr12:43819450A>T	ENST00000389420.3	-	28	4150	c.4151T>A	c.(4150-4152)aTa>aAa	p.I1384K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.I1384K|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.I502K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1384	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AAATTGACATATTACAAGTCT	0.348																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4150-4152)aTa>aAa		ADAM metallopeptidase with thrombospondin type 1 motif, 20							152.0	131.0	138.0					12																	43819450		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43819450A>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4151T>A	12.37:g.43819450A>T	ENSP00000374071:p.Ile1384Lys					ADAMTS20_ENST00000395541.2_Missense_Mutation_p.I502K|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.I1384K	p.I1384K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	28	4150	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1384			TSP type-1 10.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4151T>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	14.32	2.499495	0.44455	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.71	3.56	0.40772	.	0.107309	0.39146	N	0.001453	T	0.51143	0.1657	L	0.42581	1.335	0.58432	D	0.999997	B;P	0.50272	0.009;0.933	B;P	0.57776	0.016;0.827	T	0.38090	-0.9677	10	0.19147	T	0.46	.	10.9128	0.47118	0.9248:0.0:0.0752:0.0	.	1384;502	P59510;E9PBD5	ATS20_HUMAN;.	K	1384;514;502;1384;1384	ENSP00000374071:I1384K;ENSP00000447427:I514K;ENSP00000378911:I502K;ENSP00000448341:I1384K	ENSP00000374068:I1384K	I	-	2	0	ADAMTS20	42105717	0.993000	0.37304	0.993000	0.49108	0.808000	0.45660	3.905000	0.56333	0.897000	0.36392	-0.280000	0.10049	ATA		0.348	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		5	20	0	0	0	1	0	5	20				
SLC38A1	81539	broad.mit.edu	37	12	46598088	46598088	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr12:46598088G>A	ENST00000398637.5	-	11	1512	c.818C>T	c.(817-819)tCa>tTa	p.S273L	SLC38A1_ENST00000439706.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000552197.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000549049.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000546893.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	273					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACTTACCTTTGAATTGAAGGT	0.333																																						ENST00000398637.5																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(817-819)tCa>tTa		solute carrier family 38, member 1							219.0	201.0	207.0					12																	46598088		1864	4099	5963	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46598088G>A	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.818C>T	12.37:g.46598088G>A	ENSP00000381634:p.Ser273Leu					SLC38A1_ENST00000552197.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000549049.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000546893.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000439706.1_Missense_Mutation_p.S273L|SLC38A1_ENST00000549633.1_5'UTR	p.S273L	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		11	1512	-	Lung SC(27;0.137)|Renal(347;0.236)		273					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.818C>T	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824926	0.50739	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36	5.37	4.47	0.54385	.	0.245279	0.28958	N	0.013582	T	0.04363	0.0120	M	0.68317	2.08	0.50039	D	0.999842	B;B;B	0.25719	0.132;0.007;0.027	B;B;B	0.33196	0.159;0.01;0.017	T	0.22977	-1.0201	10	0.49607	T	0.09	-10.8642	9.3602	0.38190	0.0737:0.0:0.7855:0.1408	.	273;273;273	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	L	273	ENSP00000449607:S273L;ENSP00000398142:S273L;ENSP00000381634:S273L;ENSP00000447853:S273L;ENSP00000449756:S273L	ENSP00000381634:S273L	S	-	2	0	SLC38A1	44884355	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	3.903000	0.56318	2.527000	0.85204	0.467000	0.42956	TCA		0.333	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			48	102	0	0	0	1	0	48	102				
RHBDL2	54933	broad.mit.edu	37	1	39381357	39381357	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:39381357A>G	ENST00000289248.2	-	3	1280	c.272T>C	c.(271-273)gTg>gCg	p.V91A	RHBDL2_ENST00000372990.1_Missense_Mutation_p.V91A|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000540558.1_Missense_Mutation_p.V91A|RHBDL2_ENST00000372985.3_Missense_Mutation_p.V171A|RHBDL2_ENST00000538156.1_Missense_Mutation_p.V158A			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AGGCTTCCACACAGCATAGTA	0.517																																						ENST00000289248.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8						c.(271-273)gTg>gCg		rhomboid, veinlet-like 2 (Drosophila)							119.0	106.0	110.0					1																	39381357		2203	4300	6503	SO:0001583	missense	54933				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr1:39381357A>G	AK000442	CCDS30680.1	1p35.1	2014-01-28	2001-11-28		ENSG00000158315	ENSG00000158315			16083	protein-coding gene	gene with protein product		608962	"""rhomboid (veinlet, Drosophila)-like 2"""				Standard	NM_017821		Approved	FLJ20435	uc001ccu.1	Q9NX52	OTTHUMG00000000487	ENST00000289248.2:c.272T>C	1.37:g.39381357A>G	ENSP00000289248:p.Val91Ala					RHBDL2_ENST00000372985.3_Missense_Mutation_p.V171A|RHBDL2_ENST00000372990.1_Missense_Mutation_p.V91A|RHBDL2_ENST00000538156.1_Missense_Mutation_p.V158A|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000540558.1_Missense_Mutation_p.V91A	p.V91A			Q9NX52	RHBL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		3	1280	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	91					B2RNT3|B9EH75|Q6P175|Q8NER8|Q96E02	Missense_Mutation	SNP	ENST00000289248.2	37	c.272T>C	CCDS30680.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.325562	0.81580	.	.	ENSG00000158315	ENST00000372990;ENST00000289248;ENST00000538156;ENST00000372985;ENST00000540558	T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77	5.28	5.28	0.74379	.	0.132843	0.49305	D	0.000147	T	0.17959	0.0431	L	0.54323	1.7	0.80722	D	1	D;P;D	0.60575	0.983;0.92;0.988	P;B;P	0.51615	0.621;0.422;0.675	T	0.05767	-1.0865	10	0.17369	T	0.5	-14.1483	14.3335	0.66574	1.0:0.0:0.0:0.0	.	171;158;91	B7Z1Y9;B3KUN4;Q9NX52	.;.;RHBL2_HUMAN	A	91;91;158;171;91	ENSP00000362081:V91A;ENSP00000289248:V91A;ENSP00000439227:V158A;ENSP00000362076:V171A;ENSP00000441097:V91A	ENSP00000289248:V91A	V	-	2	0	RHBDL2	39153944	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.543000	0.90651	2.026000	0.59711	0.450000	0.29827	GTG		0.517	RHBDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001216.1	NM_017821		18	47	0	0	0	1	0	18	47				
OR9G4	283189	broad.mit.edu	37	11	56511168	56511168	+	Silent	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr11:56511168C>T	ENST00000302957.3	-	1	119	c.120G>A	c.(118-120)ccG>ccA	p.P40P		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAAATAGAATCGGCTGCCACT	0.443																																						ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(118-120)ccG>ccA		olfactory receptor, family 9, subfamily G, member 4							74.0	69.0	71.0					11																	56511168		2201	4296	6497	SO:0001819	synonymous_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511168C>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.120G>A	11.37:g.56511168C>T							p.P40P	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	119	-			40					Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	c.120G>A	CCDS31537.1																																																																																				0.443	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		6	66	0	0	0	1	0	6	66				
ECE2	9718	broad.mit.edu	37	3	183996103	183996103	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:183996103T>C	ENST00000402825.3	+	6	1104		c.e6+2		ECE2_ENST00000404464.3_Splice_Site|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Splice_Site|ECE2_ENST00000359140.4_Splice_Site	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTTATCCAGGTGATGAGCTGG	0.582																																						ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.e6+2		endothelin converting enzyme 2							59.0	58.0	59.0					3																	183996103		2203	4300	6503	SO:0001630	splice_region_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183996103T>C	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1104+2T>C	3.37:g.183996103T>C						ECE2_ENST00000359140.4_Splice_Site|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Splice_Site|ECE2_ENST00000404464.3_Splice_Site		NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	1104	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)							A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Splice_Site	SNP	ENST00000402825.3	37		CCDS3256.2	.	.	.	.	.	.	.	.	.	.	T	16.55	3.153745	0.57259	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1864	0.59684	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ECE2	185478797	1.000000	0.71417	0.968000	0.41197	0.738000	0.42128	7.351000	0.79395	1.994000	0.58287	0.379000	0.24179	.		0.582	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693	Intron	10	45	0	0	0	1	0	10	45				
PCDHB6	56130	broad.mit.edu	37	5	140530025	140530025	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr5:140530025G>A	ENST00000231136.1	+	1	187	c.187G>A	c.(187-189)Gct>Act	p.A63T	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	63	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)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGCGGGGCGCTCGGGTTGT	0.517																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(187-189)Gct>Act									81.0	91.0	87.0					5																	140530025		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530025G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.187G>A	5.37:g.140530025G>A	ENSP00000231136:p.Ala63Thr					PCDHB6_ENST00000543635.1_Intron	p.A63T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	187	+			63			Cadherin 1.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.187G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557460	0.27827	.	.	ENSG00000113211	ENST00000231136	T	0.38240	1.15	4.97	4.97	0.65823	Cadherin, N-terminal (1);Cadherin (2);	.	.	.	.	T	0.65154	0.2664	M	0.91972	3.26	0.80722	D	1	D	0.65815	0.995	D	0.66716	0.946	T	0.71192	-0.4665	9	0.48119	T	0.1	.	13.5479	0.61715	0.0:0.0:0.8442:0.1558	.	63	Q9Y5E3	PCDB6_HUMAN	T	63	ENSP00000231136:A63T	ENSP00000231136:A63T	A	+	1	0	PCDHB6	140510209	0.000000	0.05858	0.334000	0.25495	0.041000	0.13682	0.183000	0.16919	2.454000	0.82982	0.561000	0.74099	GCT		0.517	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		21	66	0	0	0	1	0	21	66				
ANGPTL6	83854	broad.mit.edu	37	19	10204481	10204481	+	Missense_Mutation	SNP	C	C	T	rs369036998		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:10204481C>T	ENST00000253109.4	-	4	1077	c.839G>A	c.(838-840)cGt>cAt	p.R280H	ANGPTL6_ENST00000589181.1_Intron|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.R280H	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	280	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CACTACGTGACGGCCCACTCG	0.597																																						ENST00000253109.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12						c.(838-840)cGt>cAt		angiopoietin-like 6		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	189.0	168.0	175.0		839	2.3	0.1	19		175	0,8600		0,0,4300	no	missense	ANGPTL6	NM_031917.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	280/471	10204481	1,13005	2203	4300	6503	SO:0001583	missense	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10204481C>T	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.839G>A	19.37:g.10204481C>T	ENSP00000253109:p.Arg280His					ANGPTL6_ENST00000592641.1_Missense_Mutation_p.R280H|ANGPTL6_ENST00000589181.1_Intron	p.R280H	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		4	1077	-			280			Fibrinogen C-terminal.		A5PKV7|Q9BZZ0	Missense_Mutation	SNP	ENST00000253109.4	37	c.839G>A	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665754	0.47677	2.27E-4	0.0	ENSG00000130812	ENST00000253109	T	0.81247	-1.47	4.57	2.27	0.28462	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.654924	0.15241	N	0.272868	T	0.69151	0.3079	N	0.03608	-0.345	0.22213	N	0.999286	D	0.71674	0.998	P	0.59703	0.862	T	0.57952	-0.7722	10	0.39692	T	0.17	.	5.5644	0.17163	0.0:0.6328:0.1879:0.1793	.	280	Q8NI99	ANGL6_HUMAN	H	280	ENSP00000253109:R280H	ENSP00000253109:R280H	R	-	2	0	ANGPTL6	10065481	0.011000	0.17503	0.086000	0.20670	0.113000	0.19764	0.630000	0.24553	1.124000	0.41980	0.485000	0.47835	CGT		0.597	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		35	86	0	0	0	1	0	35	86				
SHE	126669	broad.mit.edu	37	1	154461551	154461551	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:154461551C>T	ENST00000304760.2	-	3	1086	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	334										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACGATCTGCTCCTTCTTCCAC	0.667																																						ENST00000304760.2																			0				breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14						c.(1000-1002)Gag>Aag		Src homology 2 domain containing E							45.0	49.0	48.0					1																	154461551		2203	4299	6502	SO:0001583	missense	126669							g.chr1:154461551C>T	AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"""SH2 domain containing"""	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.1000G>A	1.37:g.154461551C>T	ENSP00000307369:p.Glu334Lys						p.E334K	NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	1086	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		334					Q8TEQ5	Missense_Mutation	SNP	ENST00000304760.2	37	c.1000G>A	CCDS30877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.432735|5.432735	0.96150|0.96150	.|.	.|.	ENSG00000169291|ENSG00000169291	ENST00000304760|ENST00000555188	T|.	0.35605|.	1.3|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.108809|.	0.64402|.	D|.	0.000010|.	T|T	0.73799|0.73799	0.3633|0.3633	M|M	0.79475|0.79475	2.455|2.455	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.48694|.	0.914|.	P|.	0.46419|.	0.516|.	T|T	0.72293|0.72293	-0.4336|-0.4336	10|5	0.38643|.	T|.	0.18|.	-14.9003|-14.9003	18.4498|18.4498	0.90699|0.90699	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	334|.	Q5VZ18|.	SHE_HUMAN|.	K|E	334|31	ENSP00000307369:E334K|.	ENSP00000307369:E334K|.	E|G	-|-	1|2	0|0	SHE|SHE	152728175|152728175	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	5.361000|5.361000	0.66092|0.66092	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.667	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2	NM_001010846		4	59	0	0	0	1	0	4	59				
TRMT11	60487	broad.mit.edu	37	6	126319702	126319702	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr6:126319702G>A	ENST00000334379.5	+	6	515	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	TRMT11_ENST00000450358.1_Missense_Mutation_p.E132K|TRMT11_ENST00000368332.3_Missense_Mutation_p.E132K	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	132					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TTAGGCACTTGAATTTCTGCC	0.338																																						ENST00000334379.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(394-396)Gaa>Aaa		tRNA methyltransferase 11 homolog (S. cerevisiae)							60.0	60.0	60.0					6																	126319702		2203	4299	6502	SO:0001583	missense	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126319702G>A	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.394G>A	6.37:g.126319702G>A	ENSP00000333934:p.Glu132Lys					TRMT11_ENST00000450358.1_Missense_Mutation_p.E132K|TRMT11_ENST00000368332.3_Missense_Mutation_p.E132K	p.E132K	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	6	515	+			132					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	ENST00000334379.5	37	c.394G>A	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476597	0.84640	.	.	ENSG00000066651	ENST00000334379;ENST00000450358;ENST00000368332;ENST00000444121;ENST00000446681	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.95	5.95	0.96441	.	0.090793	0.85682	D	0.000000	T	0.30355	0.0762	L	0.40543	1.245	0.80722	D	1	B;P	0.47762	0.046;0.9	B;P	0.45794	0.059;0.493	T	0.14117	-1.0484	10	0.06099	T	0.92	-24.4932	20.3931	0.98965	0.0:0.0:1.0:0.0	.	132;132	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	K	132;132;132;69;69	ENSP00000333934:E132K;ENSP00000405140:E132K;ENSP00000357316:E132K;ENSP00000406230:E69K;ENSP00000415724:E69K	ENSP00000333934:E132K	E	+	1	0	TRMT11	126361395	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.016000	0.88706	2.824000	0.97209	0.655000	0.94253	GAA		0.338	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		16	79	0	0	0	1	0	16	79				
CCT6A	908	broad.mit.edu	37	7	56126355	56126355	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr7:56126355A>G	ENST00000275603.4	+	8	1147	c.928A>G	c.(928-930)Ata>Gta	p.I310V	CCT6A_ENST00000540286.1_Missense_Mutation_p.I279V|SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000335503.3_Missense_Mutation_p.I265V	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	310					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAAAGAAGGCATAGTTGCTCT	0.338																																						ENST00000275603.4																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(928-930)Ata>Gta		chaperonin containing TCP1, subunit 6A (zeta 1)							63.0	66.0	65.0					7																	56126355		2203	4300	6503	SO:0001583	missense	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56126355A>G	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.928A>G	7.37:g.56126355A>G	ENSP00000275603:p.Ile310Val					CCT6A_ENST00000335503.3_Missense_Mutation_p.I265V|CCT6A_ENST00000540286.1_Missense_Mutation_p.I279V	p.I310V	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	1147	+	Breast(14;0.214)		310					A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	c.928A>G	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354754	0.61293	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	D;D;D	0.81996	-1.56;-1.56;-1.56	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.82235	0.4993	L	0.58669	1.825	0.80722	D	1	P;P;B	0.36183	0.542;0.508;0.093	B;B;B	0.39876	0.288;0.312;0.086	T	0.82382	-0.0485	10	0.46703	T	0.11	-13.0798	14.4629	0.67465	1.0:0.0:0.0:0.0	.	279;265;310	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	V	310;265;279;168	ENSP00000275603:I310V;ENSP00000352019:I265V;ENSP00000438488:I279V	ENSP00000275603:I310V	I	+	1	0	CCT6A	56093849	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.719000	0.74718	2.085000	0.62840	0.402000	0.26972	ATA		0.338	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		4	67	0	0	0	1	0	4	67				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	44	0	0	0	1	0	4	44				
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T	rs570609187	byFrequency	TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr17:21730847G>T	ENST00000578713.1	+	1	153	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000584755.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21142	0.002		0.0	False		,,,				2504	0.0					ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(148-150)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730847G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.149G>T	17.37:g.21730847G>T	ENSP00000464265:p.Arg50Leu					UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L	p.R50L							2	546	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.149G>T																																																																																					0.522	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			3	49	1	0	0.00909568	1	0.00921696	3	49				
ABCC9	10060	broad.mit.edu	37	12	21971146	21971146	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr12:21971146C>T	ENST00000261201.4	-	30	3708	c.3709G>A	c.(3709-3711)Gca>Aca	p.A1237T	ABCC9_ENST00000261200.4_Missense_Mutation_p.A1237T|ABCC9_ENST00000345162.2_Missense_Mutation_p.A1201T	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1237	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTAATGGATGCTATAGATGCA	0.388																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3709-3711)Gca>Aca		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						167.0	161.0	163.0					12																	21971146		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21971146C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3709G>A	12.37:g.21971146C>T	ENSP00000261201:p.Ala1237Thr					ABCC9_ENST00000345162.2_Missense_Mutation_p.A1201T|ABCC9_ENST00000261201.4_Missense_Mutation_p.A1237T	p.A1237T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			30	3708	-			1237			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3709G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	1.143	-0.649049	0.03506	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	5.02	5.02	0.67125	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.173757	0.50627	D	0.000114	T	0.79293	0.4421	L	0.28556	0.865	0.37735	D	0.925427	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.005	T	0.71481	-0.4580	10	0.12766	T	0.61	-14.9481	7.4612	0.27296	0.1683:0.742:0.0:0.0897	.	1237;1237	O60706;O60706-2	ABCC9_HUMAN;.	T	1237;864;1237;1201	ENSP00000261200:A1237T;ENSP00000440521:A864T;ENSP00000261201:A1237T;ENSP00000261202:A1201T	ENSP00000261200:A1237T	A	-	1	0	ABCC9	21862413	0.988000	0.35896	0.999000	0.59377	0.545000	0.35147	1.895000	0.39778	2.615000	0.88500	0.585000	0.79938	GCA		0.388	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		19	64	0	0	0	1	0	19	64				
CACNA1I	8911	broad.mit.edu	37	22	40055483	40055483	+	Silent	SNP	G	G	A	rs374658074		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr22:40055483G>A	ENST00000402142.3	+	13	2376	c.2376G>A	c.(2374-2376)acG>acA	p.T792T	CACNA1I_ENST00000404898.1_Silent_p.T757T|CACNA1I_ENST00000400164.3_Silent_p.T757T|CACNA1I_ENST00000407673.1_Silent_p.T757T|CACNA1I_ENST00000336649.4_Silent_p.T798T|CACNA1I_ENST00000401624.1_Silent_p.T792T	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	792					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCTCCGCACGGACACTGGAG	0.562																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(2392-2394)acG>acA		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	G	,	0,4196		0,0,2098	59.0	59.0	59.0		2271,2376	-5.6	1.0	22		59	1,8425		0,1,4212	no	coding-synonymous,coding-synonymous	CACNA1I	NM_001003406.1,NM_021096.3	,	0,1,6310	AA,AG,GG		0.0119,0.0,0.0079	,	757/2189,792/2224	40055483	1,12621	2098	4213	6311	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40055483G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2376G>A	22.37:g.40055483G>A						CACNA1I_ENST00000407673.1_Silent_p.T757T|CACNA1I_ENST00000404898.1_Silent_p.T757T|CACNA1I_ENST00000402142.3_Silent_p.T792T|CACNA1I_ENST00000400164.3_Silent_p.T757T|CACNA1I_ENST00000401624.1_Silent_p.T792T	p.T798T			Q9P0X4	CAC1I_HUMAN			16	2394	+	Melanoma(58;0.0749)		792					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.2394G>A	CCDS46710.1																																																																																				0.562	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		6	9	0	0	0	1	0	6	9				
PLCE1	51196	broad.mit.edu	37	10	96022289	96022289	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:96022289A>T	ENST00000371380.3	+	13	4088	c.3853A>T	c.(3853-3855)Att>Ttt	p.I1285F	PLCE1_ENST00000371375.1_Missense_Mutation_p.I977F|PLCE1_ENST00000260766.3_Missense_Mutation_p.I1285F|PLCE1_ENST00000371385.3_Missense_Mutation_p.I977F			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1285					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGGGTTGTTCATTAAGAGTAA	0.438																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3853-3855)Att>Ttt		phospholipase C, epsilon 1							233.0	214.0	220.0					10																	96022289		1937	4147	6084	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96022289A>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3853A>T	10.37:g.96022289A>T	ENSP00000360431:p.Ile1285Phe					PLCE1_ENST00000371375.1_Missense_Mutation_p.I977F|PLCE1_ENST00000371385.3_Missense_Mutation_p.I977F|PLCE1_ENST00000371380.2_Missense_Mutation_p.I1285F	p.I1285F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			14	4487	+		Colorectal(252;0.0458)	1285					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3853A>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.927333	0.73327	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.26660	1.72;1.72;1.75;1.75	5.76	5.76	0.90799	.	0.060658	0.64402	D	0.000005	T	0.34861	0.0912	L	0.44542	1.39	0.53688	D	0.999972	P;P;B	0.51240	0.905;0.943;0.429	P;P;B	0.51229	0.462;0.663;0.112	T	0.04991	-1.0913	10	0.59425	D	0.04	.	16.0676	0.80897	1.0:0.0:0.0:0.0	.	1269;977;1285	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	F	1285;1285;977;977	ENSP00000260766:I1285F;ENSP00000360431:I1285F;ENSP00000360438:I977F;ENSP00000360426:I977F	ENSP00000260766:I1285F	I	+	1	0	PLCE1	96012279	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.880000	0.92407	2.201000	0.70794	0.533000	0.62120	ATT		0.438	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		7	137	0	0	0	1	0	7	137				
FBN3	84467	broad.mit.edu	37	19	8203370	8203370	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:8203370C>A	ENST00000600128.1	-	9	1358	c.944G>T	c.(943-945)aGg>aTg	p.R315M	FBN3_ENST00000601739.1_Missense_Mutation_p.R315M|FBN3_ENST00000270509.2_Missense_Mutation_p.R315M			Q75N90	FBN3_HUMAN	fibrillin 3	315	TB 2.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGCACTGCCTGCGAGTGTA	0.662																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(943-945)aGg>aTg		fibrillin 3							26.0	28.0	27.0					19																	8203370		2203	4299	6502	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8203370C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.944G>T	19.37:g.8203370C>A	ENSP00000470498:p.Arg315Met					FBN3_ENST00000270509.2_Missense_Mutation_p.R315M|FBN3_ENST00000601739.1_Missense_Mutation_p.R315M	p.R315M			Q75N90	FBN3_HUMAN			9	1358	-			315			TB 2.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.944G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	12.43	1.937079	0.34189	.	.	ENSG00000142449	ENST00000270509	D	0.92299	-3.01	4.06	2.91	0.33838	Matrix fibril-associated (3);TGF-beta binding (1);	0.178902	0.45126	U	0.000385	T	0.78811	0.4342	N	0.04768	-0.165	0.20403	N	0.999902	B	0.22146	0.065	B	0.18561	0.022	T	0.65890	-0.6058	10	0.27785	T	0.31	.	6.6156	0.22774	0.2649:0.4496:0.2855:0.0	.	315	Q75N90	FBN3_HUMAN	M	315	ENSP00000270509:R315M	ENSP00000270509:R315M	R	-	2	0	FBN3	8109370	1.000000	0.71417	0.967000	0.41034	0.685000	0.39939	2.261000	0.43276	1.974000	0.57490	0.556000	0.70494	AGG		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		3	23	1	0	0.115264	1	0.115264	3	23				
SPTBN4	57731	broad.mit.edu	37	19	41009956	41009956	+	Missense_Mutation	SNP	C	C	T	rs372472584		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:41009956C>T	ENST00000352632.3	+	12	1668	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	SPTBN4_ENST00000595535.1_Missense_Mutation_p.R528W|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R528W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R528W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R528W			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	528					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGTGCCCGGCGGACACGACT	0.647																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1582-1584)Cgg>Tgg		spectrin, beta, non-erythrocytic 4			TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	43.0	50.0	48.0		1582	2.0	1.0	19		48	0,8600		0,0,4300	no	missense	SPTBN4	NM_020971.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	528/2565	41009956	1,13005	2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41009956C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1582C>T	19.37:g.41009956C>T	ENSP00000263373:p.Arg528Trp					SPTBN4_ENST00000344104.3_Missense_Mutation_p.R528W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R528W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R528W|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R528W	p.R528W			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1668	+			528					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1582C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	c	18.72	3.685207	0.68157	2.27E-4	0.0	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.53640	0.61;0.61;0.61	4.35	1.95	0.26073	.	0.000000	0.64402	U	0.000008	T	0.69124	0.3076	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.981;0.984	T	0.75491	-0.3299	10	0.72032	D	0.01	.	12.4109	0.55466	0.3131:0.6869:0.0:0.0	.	528;528	Q9H254;Q71S06	SPTN4_HUMAN;.	W	528	ENSP00000263373:R528W;ENSP00000340345:R528W;ENSP00000340741:R528W	ENSP00000340345:R528W	R	+	1	2	SPTBN4	45701796	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	-0.837000	0.04377	0.977000	0.38444	0.486000	0.48141	CGG		0.647	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			9	26	0	0	0	1	0	9	26				
EIF4ENIF1	56478	broad.mit.edu	37	22	31851272	31851272	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr22:31851272G>C	ENST00000397525.1	-	9	1352	c.1129C>G	c.(1129-1131)Cag>Gag	p.Q377E	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.Q214E|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.Q377E|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.Q56E|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.Q377E	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	377						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCGAGTTCTGTCCAGGAGAG	0.378																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1129-1131)Cag>Gag		eukaryotic translation initiation factor 4E nuclear import factor 1							74.0	73.0	73.0					22																	31851272		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31851272G>C	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1129C>G	22.37:g.31851272G>C	ENSP00000380659:p.Gln377Glu					EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.Q377E|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.Q214E|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.Q56E|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.Q377E|RP11-247I13.11_ENST00000464523.1_RNA	p.Q377E	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			9	1352	-			377					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.1129C>G	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927817	0.52759	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000420671	.	.	.	5.93	5.93	0.95920	.	0.160029	0.56097	D	0.000025	T	0.71710	0.3372	L	0.53249	1.67	0.54753	D	0.999988	P;D;D;B	0.59357	0.895;0.985;0.971;0.164	P;D;P;B	0.73708	0.56;0.981;0.761;0.142	T	0.64377	-0.6422	9	0.02654	T	1	-5.6912	17.4871	0.87692	0.0:0.0:1.0:0.0	.	214;377;214;377	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	E	214;377;377;377;56;377	.	ENSP00000328103:Q377E	Q	-	1	0	EIF4ENIF1	30181272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.615000	0.90920	2.797000	0.96272	0.655000	0.94253	CAG		0.378	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		3	51	0	0	0	1	0	3	51				
RPLP0P6	220717	broad.mit.edu	37	2	38708932	38708932	+	lincRNA	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr2:38708932A>G	ENST00000417039.1	-	0	696																											CTCGCCAGGCATCCTCGTGGA	0.577																																						ENST00000417039.1																			0																																																			0							g.chr2:38708932A>G																													2.37:g.38708932A>G														0	696	-									RNA	SNP	ENST00000417039.1	37																																																																																						0.577	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			3	8	0	0	0	1	0	3	8				
MSH2	4436	broad.mit.edu	37	2	47639666	47639666	+	Missense_Mutation	SNP	G	G	A	rs267607931|rs63751160|rs587779179		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr2:47639666G>A	ENST00000233146.2	+	4	982	c.759G>A	c.(757-759)atG>atA	p.M253I	MSH2_ENST00000406134.1_Missense_Mutation_p.M253I|MSH2_ENST00000543555.1_Missense_Mutation_p.M187I	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	253					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGAGCAGATGAATAGTGCTG	0.313			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112	GRCh37	CD066378|CD076833	MSH2	D		c.(757-759)atG>atA	Mismatch excision repair (MMR)	mutS homolog 2							75.0	74.0	74.0					2																	47639666		2203	4300	6503	SO:0001583	missense	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47639666G>A	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.759G>A	2.37:g.47639666G>A	ENSP00000233146:p.Met253Ile					MSH2_ENST00000543555.1_Missense_Mutation_p.M187I|MSH2_ENST00000233146.2_Missense_Mutation_p.M253I	p.M253I			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	821	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	253					B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.759G>A	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	9.806	1.181961	0.21787	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000394792;ENST00000413880	D;D;D	0.88124	-2.34;-2.34;-2.34	5.5	4.61	0.57282	DNA mismatch repair protein MutS, connector (1);	0.641937	0.17671	N	0.165972	T	0.77798	0.4184	N	0.24115	0.695	0.39289	D	0.964702	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.72110	-0.4389	10	0.33940	T	0.23	-1.1975	9.6687	0.40000	0.0718:0.0:0.7888:0.1395	.	187;253;253;253	B4E2Z2;E7EQQ1;E9PHA6;P43246	.;.;.;MSH2_HUMAN	I	253;187;253;253;253;253;253;253;89	ENSP00000233146:M253I;ENSP00000442697:M187I;ENSP00000384199:M253I	ENSP00000233146:M253I	M	+	3	0	MSH2	47493170	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	0.950000	0.29122	1.325000	0.45301	0.558000	0.71614	ATG		0.313	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			15	46	0	0	0	1	0	15	46				
MKRN1	23608	broad.mit.edu	37	7	140158862	140158862	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr7:140158862C>T	ENST00000255977.2	-	4	940	c.716G>A	c.(715-717)tGt>tAt	p.C239Y	MKRN1_ENST00000474576.1_Missense_Mutation_p.C175Y|MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.C239Y	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	239	Makorin-type Cys-His.				protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTGCAGCCCACACATGTCACA	0.507																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(715-717)tGt>tAt		makorin ring finger protein 1							105.0	100.0	101.0					7																	140158862		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140158862C>T	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.716G>A	7.37:g.140158862C>T	ENSP00000255977:p.Cys239Tyr					MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.C239Y|MKRN1_ENST00000474576.1_Missense_Mutation_p.C175Y	p.C239Y	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			4	940	-	Melanoma(164;0.00956)		239			Makorin-type Cys-His.		A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.716G>A	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760795	0.89932	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000474576;ENST00000443720;ENST00000471104	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	4.91	4.91	0.64330	.	0.042770	0.85682	D	0.000000	T	0.76593	0.4009	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.83172	-0.0093	10	0.87932	D	0	.	18.2987	0.90155	0.0:1.0:0.0:0.0	.	239	Q9UHC7	MKRN1_HUMAN	Y	239;175;175;239;175	ENSP00000255977:C239Y;ENSP00000417863:C175Y;ENSP00000416369:C239Y;ENSP00000418864:C175Y	ENSP00000255977:C239Y	C	-	2	0	MKRN1	139805331	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.223000	0.78033	2.556000	0.86216	0.555000	0.69702	TGT		0.507	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		8	77	0	0	0	1	0	8	77				
CSMD1	64478	broad.mit.edu	37	8	2820829	2820829	+	Silent	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:2820829G>A	ENST00000520002.1	-	61	9927	c.9372C>T	c.(9370-9372)tgC>tgT	p.C3124C	CSMD1_ENST00000400186.3_Silent_p.C2947C|CSMD1_ENST00000542608.1_Silent_p.C2946C|CSMD1_ENST00000602557.1_Silent_p.C3124C|CSMD1_ENST00000537824.1_Silent_p.C3123C|CSMD1_ENST00000602723.1_Silent_p.C2947C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3124	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AACCGTCCATGCAGCTGTAAC	0.572																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(9370-9372)tgC>tgT		CUB and Sushi multiple domains 1							112.0	120.0	117.0					8																	2820829		1967	4164	6131	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2820829G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9372C>T	8.37:g.2820829G>A						CSMD1_ENST00000400186.3_Silent_p.C2947C|CSMD1_ENST00000542608.1_Silent_p.C2946C|CSMD1_ENST00000537824.1_Silent_p.C3123C|CSMD1_ENST00000602723.1_Silent_p.C2947C|CSMD1_ENST00000520002.1_Silent_p.C3124C	p.C3124C			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	61	9927	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3124			Sushi 25.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.9372C>T		.	.	.	.	.	.	.	.	.	.	G	1.899	-0.453549	0.04540	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.69	-3.17	0.05202	.	.	.	.	.	T	0.64800	0.2631	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62751	-0.6788	4	.	.	.	.	14.3369	0.66598	0.7162:0.0:0.2838:0.0	.	.	.	.	Y	2541	.	.	H	-	1	0	CSMD1	2808236	0.004000	0.15560	0.020000	0.16555	0.280000	0.26924	0.221000	0.17680	-0.828000	0.04273	-0.140000	0.14226	CAT		0.572	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		9	66	0	0	0	1	0	9	66				
SCAPER	49855	broad.mit.edu	37	15	76995224	76995224	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr15:76995224T>A	ENST00000563290.1	-	19	2462	c.2367A>T	c.(2365-2367)gaA>gaT	p.E789D	SCAPER_ENST00000538941.2_Missense_Mutation_p.E543D|SCAPER_ENST00000324767.7_Missense_Mutation_p.E789D			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	789						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCTTCTTTCTTTCATAAGGGG	0.378																																						ENST00000538941.2																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(1627-1629)gaA>gaT		S-phase cyclin A-associated protein in the ER							118.0	119.0	118.0					15																	76995224		1876	4100	5976	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76995224T>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2367A>T	15.37:g.76995224T>A	ENSP00000454973:p.Glu789Asp					SCAPER_ENST00000563290.1_Missense_Mutation_p.E789D|SCAPER_ENST00000324767.7_Missense_Mutation_p.E789D	p.E543D	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN			19	2568	-			788			Glu-rich.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.1629A>T	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597785	0.66332	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.39592	1.07;1.07	5.8	-0.717	0.11208	.	0.045323	0.85682	N	0.000000	T	0.37461	0.1004	L	0.28115	0.83	0.40436	D	0.97999	B;P;P	0.48350	0.434;0.909;0.708	B;P;B	0.55508	0.351;0.777;0.304	T	0.10870	-1.0611	10	0.33940	T	0.23	.	8.6986	0.34312	0.0:0.4625:0.1163:0.4212	.	788;810;543	Q9BY12;Q9BY12-2;F5H7X8	SCAPE_HUMAN;.;.	D	789;543;811	ENSP00000326924:E789D;ENSP00000442190:E543D	ENSP00000303560:E811D	E	-	3	2	SCAPER	74782279	0.266000	0.24112	0.997000	0.53966	0.991000	0.79684	-0.355000	0.07671	-0.107000	0.12088	-0.323000	0.08544	GAA		0.378	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		30	65	0	0	0	1	0	30	65				
SEPT5	5413	broad.mit.edu	37	22	19709995	19709995	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr22:19709995G>A	ENST00000455784.2	+	12	1223	c.1098G>A	c.(1096-1098)atG>atA	p.M366I	SEPT5_ENST00000406395.1_3'UTR|SEPT5_ENST00000383045.3_Missense_Mutation_p.M375I|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000438754.2_3'UTR	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	366					cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					AGCAGCAGATGCAGGACCAGT	0.697																																						ENST00000455784.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(1096-1098)atG>atA		septin 5							30.0	29.0	30.0					22																	19709995		2185	4287	6472	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19709995G>A	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.1098G>A	22.37:g.19709995G>A	ENSP00000391311:p.Met366Ile					SEPT5_ENST00000438754.2_3'UTR|SEPT5_ENST00000406395.1_3'UTR|SEPT5_ENST00000383045.3_Missense_Mutation_p.M375I	p.M366I	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN			12	1223	+	Colorectal(54;0.0993)		366					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.1098G>A	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520331	0.85495	.	.	ENSG00000184702	ENST00000455784;ENST00000383045	T;T	0.51574	0.71;0.7	3.57	3.57	0.40892	.	0.054912	0.64402	D	0.000001	T	0.42630	0.1211	L	0.58583	1.82	0.80722	D	1	B	0.19817	0.039	B	0.23275	0.045	T	0.45116	-0.9283	10	0.51188	T	0.08	.	9.5893	0.39537	0.0991:0.0:0.9009:0.0	.	366	Q99719	SEPT5_HUMAN	I	366;375	ENSP00000391311:M366I;ENSP00000372515:M375I	ENSP00000372515:M375I	M	+	3	0	SEPT5	18089995	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.161000	0.71868	2.011000	0.59026	0.411000	0.27672	ATG		0.697	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		4	11	0	0	0	1	0	4	11				
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr16:90162462A>G	ENST00000564451.1	+	0	1815				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522																																						ENST00000564451.1																			1	Substitution - coding silent(1)	p.T398T(1)	kidney(1)																																																0							g.chr16:90162462A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162462A>G						TUBB8P7_ENST00000567960.1_RNA								0	1815	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	99	0	0	0	1	0	4	99				
TXNRD1	7296	broad.mit.edu	37	12	104725345	104725345	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr12:104725345A>C	ENST00000529546.1	+	11	1237	c.1012A>C	c.(1012-1014)Act>Cct	p.T338P	TXNRD1_ENST00000525566.1_Missense_Mutation_p.T526P|TXNRD1_ENST00000397736.2_Missense_Mutation_p.T420P|TXNRD1_ENST00000354940.6_Missense_Mutation_p.T376P|TXNRD1_ENST00000542918.1_Missense_Mutation_p.T426P|TXNRD1_ENST00000526390.1_Missense_Mutation_p.T420P|TXNRD1_ENST00000540716.1_Missense_Mutation_p.T338P|TXNRD1_ENST00000388854.3_Missense_Mutation_p.T428P|TXNRD1_ENST00000429002.2_Missense_Mutation_p.T526P|TXNRD1_ENST00000427956.1_Missense_Mutation_p.T491P|TXNRD1_ENST00000503506.2_Missense_Mutation_p.T376P|TXNRD1_ENST00000378070.4_Missense_Mutation_p.T475P|TXNRD1_ENST00000526691.1_Missense_Mutation_p.T428P|TXNRD1_ENST00000526950.1_Missense_Mutation_p.T445P|TXNRD1_ENST00000524698.1_Missense_Mutation_p.T376P			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	526					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	CACTGTATTTACTCCTTTGGA	0.348																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(1282-1284)Act>Cct		thioredoxin reductase 1							78.0	70.0	73.0					12																	104725345		1826	4087	5913	SO:0001583	missense	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104725345A>C		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.1012A>C	12.37:g.104725345A>C	ENSP00000434919:p.Thr338Pro					TXNRD1_ENST00000429002.2_Missense_Mutation_p.T526P|TXNRD1_ENST00000427956.1_Missense_Mutation_p.T491P|TXNRD1_ENST00000397736.2_Missense_Mutation_p.T420P|TXNRD1_ENST00000388854.3_Missense_Mutation_p.T428P|TXNRD1_ENST00000354940.6_Missense_Mutation_p.T376P|TXNRD1_ENST00000540716.1_Missense_Mutation_p.T338P|TXNRD1_ENST00000529546.1_Missense_Mutation_p.T338P|TXNRD1_ENST00000526950.1_Missense_Mutation_p.T445P|TXNRD1_ENST00000525566.1_Missense_Mutation_p.T526P|TXNRD1_ENST00000524698.1_Missense_Mutation_p.T376P|TXNRD1_ENST00000503506.2_Missense_Mutation_p.T376P|TXNRD1_ENST00000526390.1_Missense_Mutation_p.T420P|TXNRD1_ENST00000542918.1_Missense_Mutation_p.T426P|TXNRD1_ENST00000378070.4_Missense_Mutation_p.T475P	p.T428P	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			12	1738	+			526					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000529546.1	37	c.1282A>C	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.741443	0.89573	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47;-3.47	5.67	5.67	0.87782	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.044816	0.85682	D	0.000000	D	0.98201	0.9405	H	0.96080	3.765	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999;1.0;0.999	D	0.99589	1.0975	10	0.87932	D	0	-24.9432	15.9649	0.79961	1.0:0.0:0.0:0.0	.	426;420;526;428;376;526;491	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	P	526;526;376;428;428;376;420;338;338;376;426;475;420;491;445	ENSP00000434516:T526P;ENSP00000412045:T526P;ENSP00000421934:T376P;ENSP00000435929:T428P;ENSP00000373506:T428P;ENSP00000347020:T376P;ENSP00000435123:T420P;ENSP00000434919:T338P;ENSP00000442709:T338P;ENSP00000433425:T376P;ENSP00000440978:T426P;ENSP00000367310:T475P;ENSP00000380844:T420P;ENSP00000393328:T491P;ENSP00000432812:T445P	ENSP00000347020:T376P	T	+	1	0	TXNRD1	103249475	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.023000	0.93683	2.175000	0.68902	0.529000	0.55759	ACT		0.348	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		5	11	0	0	0	1	0	5	11				
SCN5A	6331	broad.mit.edu	37	3	38645555	38645555	+	Missense_Mutation	SNP	C	C	T	rs397517951		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:38645555C>T	ENST00000333535.4	-	12	1687	c.1538G>A	c.(1537-1539)cGt>cAt	p.R513H	SCN5A_ENST00000423572.2_Missense_Mutation_p.R513H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R513H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R513H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R513H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R513H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R513H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R513H|SCN5A_ENST00000413689.1_Missense_Mutation_p.R513H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R513H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	513					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTGAGGCCACGGGTGAGGCT	0.552																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1537-1539)cGt>cAt		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						27.0	27.0	27.0					3																	38645555		2041	4215	6256	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38645555C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1538G>A	3.37:g.38645555C>T	ENSP00000328968:p.Arg513His					SCN5A_ENST00000414099.2_Missense_Mutation_p.R513H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R513H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R513H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R513H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R513H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R513H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R513H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R513H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R513H	p.R513H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	12	1731	-	Medulloblastoma(35;0.163)		513					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.1538G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	T	0.084	-1.178695	0.01633	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28	3.83	1.33	0.21861	Domain of unknown function DUF3451 (1);	1.280950	0.05214	N	0.507293	D	0.82875	0.5132	N	0.04880	-0.145	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.0;0.0;0.0	T	0.69756	-0.5059	10	0.41790	T	0.15	.	0.9856	0.01445	0.1443:0.1864:0.2964:0.3729	.	513;513;513;513;513;513;513	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	H	513	ENSP00000398962:R513H;ENSP00000398266:R513H;ENSP00000410257:R513H;ENSP00000388797:R513H;ENSP00000397915:R513H;ENSP00000416634:R513H;ENSP00000328968:R513H;ENSP00000399524:R513H;ENSP00000403355:R513H;ENSP00000413996:R513H	ENSP00000328968:R513H	R	-	2	0	SCN5A	38620559	0.001000	0.12720	0.014000	0.15608	0.106000	0.19336	0.147000	0.16202	-0.180000	0.10637	-0.361000	0.07541	CGT		0.552	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		7	8	0	0	0	1	0	7	8				
CSGALNACT2	55454	broad.mit.edu	37	10	43678810	43678810	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:43678810C>G	ENST00000374466.3	+	8	1784	c.1449C>G	c.(1447-1449)caC>caG	p.H483Q		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	483					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTCTTTTCCACCTCTGGCATG	0.507																																						ENST00000374466.3																			0				endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1447-1449)caC>caG		chondroitin sulfate N-acetylgalactosaminyltransferase 2							144.0	141.0	142.0					10																	43678810		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43678810C>G	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1449C>G	10.37:g.43678810C>G	ENSP00000363590:p.His483Gln						p.H483Q	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			8	1784	+			483					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.1449C>G	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594366	0.86953	.	.	ENSG00000169826	ENST00000374466	T	0.52057	0.68	5.87	5.87	0.94306	.	0.083470	0.85682	D	0.000000	T	0.72236	0.3435	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73294	-0.4028	10	0.41790	T	0.15	-17.6384	13.7487	0.62894	0.0:0.9299:0.0:0.0701	.	483	Q8N6G5	CGAT2_HUMAN	Q	483	ENSP00000363590:H483Q	ENSP00000363590:H483Q	H	+	3	2	CSGALNACT2	42998816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.924000	0.48876	2.941000	0.99782	0.655000	0.94253	CAC		0.507	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		4	123	0	0	0	1	0	4	123				
ANXA5	308	broad.mit.edu	37	4	122602847	122602847	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr4:122602847T>C	ENST00000296511.5	-	6	658	c.373A>G	c.(373-375)Atc>Gtc	p.I125V	ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000501272.2_Missense_Mutation_p.I65V	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	125					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						ACTTGTTTGATGGCTCTCAGT	0.358																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	ENST00000296511.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(373-375)Atc>Gtc		annexin A5							212.0	196.0	202.0					4																	122602847		2203	4300	6503	SO:0001583	missense	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122602847T>C	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.373A>G	4.37:g.122602847T>C	ENSP00000296511:p.Ile125Val					ANXA5_ENST00000501272.2_Missense_Mutation_p.I65V|ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000509016.1_5'UTR	p.I125V	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN			6	658	-			125					D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Missense_Mutation	SNP	ENST00000296511.5	37	c.373A>G	CCDS3720.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959689	0.74016	.	.	ENSG00000164111	ENST00000296511;ENST00000512232;ENST00000501272	T;T	0.04551	3.6;3.6	5.92	4.72	0.59763	Annexin repeat, conserved site (1);	0.042683	0.85682	N	0.000000	T	0.18841	0.0452	M	0.71871	2.18	0.80722	D	1	D;P;D	0.64830	0.989;0.795;0.994	D;P;D	0.85130	0.997;0.714;0.996	T	0.00143	-1.1995	10	0.62326	D	0.03	.	11.2547	0.49048	0.0:0.073:0.0:0.927	.	65;125;125	D6RBL5;E7ENQ5;P08758	.;.;ANXA5_HUMAN	V	125;125;65	ENSP00000296511:I125V;ENSP00000424106:I65V	ENSP00000296511:I125V	I	-	1	0	ANXA5	122822297	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.715000	0.47210	1.049000	0.40321	0.533000	0.62120	ATC		0.358	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		4	52	0	0	0	1	0	4	52				
CCNL2	81669	broad.mit.edu	37	1	1325728	1325728	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:1325728delA	ENST00000400809.3	-	8	893	c.888delT	c.(886-888)ggtfs	p.G296fs	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Frame_Shift_Del_p.G74fs	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	296					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTTCCACTTCACCCTCCAGGT	0.527																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(886-888)ggfs		cyclin L2							101.0	103.0	102.0					1																	1325728		2203	4296	6499	SO:0001589	frameshift_variant	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1325728delA	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.888delT	1.37:g.1325728delA	ENSP00000383611:p.Gly296fs					CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Frame_Shift_Del_p.G74fs	p.G296fs	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	8	893	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	296					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Frame_Shift_Del	DEL	ENST00000400809.3	37	c.888delT	CCDS30557.1																																																																																				0.527	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		54	85						54	85	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(106-108)del		HCLS1 associated protein X-1			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron	p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	319_321	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		7	100						7	100	---	---	---	---
EEFSEC	60678	broad.mit.edu	37	3	127965801	127965801	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr3:127965801delA	ENST00000254730.6	+	2	493	c.439delA	c.(439-441)aaafs	p.K147fs	EEFSEC_ENST00000483457.1_Frame_Shift_Del_p.K147fs	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	147	G4. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GGTGCTGAACAAAATAGACCT	0.493																																						ENST00000254730.6																			0				NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(439-441)aafs		eukaryotic elongation factor, selenocysteine-tRNA-specific							178.0	179.0	179.0					3																	127965801		2203	4300	6503	SO:0001589	frameshift_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127965801delA		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.439delA	3.37:g.127965801delA	ENSP00000254730:p.Lys147fs					EEFSEC_ENST00000483457.1_Frame_Shift_Del_p.K147fs	p.K147fs	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			2	493	+			147					Q96HZ6	Frame_Shift_Del	DEL	ENST00000254730.6	37	c.439delA	CCDS33849.1																																																																																				0.493	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		47	150						47	150	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191540	7191541	+	lincRNA	DEL	CA	CA	-	rs376658666		TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		GGGGTGcacgcacacacacaca	0.53																																						ENST00000606573.1																			0																																																			0							g.chr8:7191540_7191541delCA			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191550_7191551delCA														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.530	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		8	14						8	14	---	---	---	---
TYSND1	219743	broad.mit.edu	37	10	71906164	71906164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr10:71906164delC	ENST00000287078.6	-	1	178	c.179delG	c.(178-180)ggcfs	p.G60fs	TYSND1_ENST00000335494.5_Frame_Shift_Del_p.G60fs|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	60					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GACTTCGCTGCCAGCTCGCAG	0.721																																						ENST00000287078.6																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						c.(178-180)gcfs		trypsin domain containing 1							8.0	10.0	9.0					10																	71906164		1984	3845	5829	SO:0001589	frameshift_variant	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71906164delC	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.179delG	10.37:g.71906164delC	ENSP00000287078:p.Gly60fs					TYSND1_ENST00000335494.5_Frame_Shift_Del_p.G60fs	p.G60fs	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN			1	178	-			60					Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Frame_Shift_Del	DEL	ENST00000287078.6	37	c.179delG	CCDS31213.1																																																																																				0.721	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		2	4						2	4	---	---	---	---
MBIP	51562	broad.mit.edu	37	14	36781227	36781227	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr14:36781227delT	ENST00000416007.4	-	5	662	c.575delA	c.(574-576)aatfs	p.N192fs	MBIP_ENST00000603913.1_5'UTR|MBIP_ENST00000359527.7_Frame_Shift_Del_p.N192fs|MBIP_ENST00000318473.7_Frame_Shift_Del_p.N192fs	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	192	Interaction with MAP3K12.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TGCACAACTATTTTCTAAGGA	0.303																																						ENST00000416007.4																			0				breast(2)|large_intestine(1)|lung(5)	8						c.(574-576)atfs		MAP3K12 binding inhibitory protein 1							50.0	53.0	52.0					14																	36781227		2203	4300	6503	SO:0001589	frameshift_variant	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36781227delT	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.575delA	14.37:g.36781227delT	ENSP00000399718:p.Asn192fs					MBIP_ENST00000603913.1_5'UTR|MBIP_ENST00000318473.7_Frame_Shift_Del_p.N192fs|MBIP_ENST00000359527.7_Frame_Shift_Del_p.N192fs	p.N192fs	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	5	662	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		192			Interaction with MAP3K12.		Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Frame_Shift_Del	DEL	ENST00000416007.4	37	c.575delA	CCDS9658.1																																																																																				0.303	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		32	66						32	66	---	---	---	---
AC007204.2	0	broad.mit.edu	37	19	20067365	20067367	+	lincRNA	DEL	AGG	AGG	-	rs144472676|rs372917412	byFrequency	TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr19:20067365_20067367delAGG	ENST00000592245.1	+	0	72																											AAGCTGGGCAAGGAGAACTCGGG	0.621														431	0.0860623	0.0514	0.1383	5008	,	,		16790	0.1756		0.0199	False		,,,				2504	0.0716					ENST00000592245.1																			0																																																			0							g.chr19:20067365_20067367delAGG																													19.37:g.20067365_20067367delAGG														0	72	+									RNA	DEL	ENST00000592245.1	37																																																																																						0.621	AC007204.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000460817.1			3	5						3	5	---	---	---	---
AC008132.13	0	broad.mit.edu	37	22	18842473	18842473	+	Intron	DEL	G	G	-	rs66480106	byFrequency	TCGA-XK-AAJA-01A-11D-A41K-08	TCGA-XK-AAJA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6726ba39-e6c1-4bce-9c82-f6eaef773988	1673d1bf-6a1e-481b-a714-8ee9753c07ea	g.chr22:18842473delG	ENST00000412938.1	+	4	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													?|GGGG|GGG|unsure	2225	0.444289	0.2716	0.4467	5008	,	,		25744	0.5079		0.5099	False		,,,				2504	0.5429					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842473delG																												ENST00000412938.1:c.2209-830G>-	22.37:g.18842473delG														0	2208	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	5						3	5	---	---	---	---
