#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
DGAT2L6	347516	broad.mit.edu	37	X	69424320	69424320	+	Silent	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:69424320C>T	ENST00000333026.3	+	6	913	c.813C>T	c.(811-813)cgC>cgT	p.R271R		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	271					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GCTTCACTCGCGGATCCTGGG	0.502																																						ENST00000333026.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						c.(811-813)cgC>cgT		diacylglycerol O-acyltransferase 2-like 6							74.0	69.0	71.0					X																	69424320		2203	4300	6503	SO:0001819	synonymous_variant	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69424320C>T	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.813C>T	X.37:g.69424320C>T							p.R271R	NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN			6	913	+			271					Q6IEE2	Silent	SNP	ENST00000333026.3	37	c.813C>T	CCDS14397.1																																																																																				0.502	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		65	86	0	0	0	1	0	65	86				
FBXO11	80204	broad.mit.edu	37	2	48040489	48040489	+	Missense_Mutation	SNP	A	A	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:48040489A>T	ENST00000403359.3	-	18	2183	c.2111T>A	c.(2110-2112)aTa>aAa	p.I704K	FBXO11_ENST00000434523.2_Missense_Mutation_p.I128K|FBXO11_ENST00000402508.1_Missense_Mutation_p.I620K|FBXO11_ENST00000316377.4_Missense_Mutation_p.I620K	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	704					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTGTCAAATATTTCATTGTC	0.294			"""Mis, F, D"""		DLBCL																																	ENST00000403359.3				Rec	yes		2	2p16.3	80204	"""Mis, F, D"""	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(2110-2112)aTa>aAa		F-box protein 11							69.0	71.0	70.0					2																	48040489		2203	4298	6501	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48040489A>T	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2111T>A	2.37:g.48040489A>T	ENSP00000384823:p.Ile704Lys					FBXO11_ENST00000434523.2_Missense_Mutation_p.I128K|FBXO11_ENST00000316377.4_Missense_Mutation_p.I620K|FBXO11_ENST00000402508.1_Missense_Mutation_p.I620K	p.I704K	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		18	2183	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	704					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.2111T>A	CCDS54357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.2|27.2	4.807637|4.807637	0.90623|0.90623	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523|ENST00000493962	D;D;D;D|.	0.84223|.	-1.82;-1.82;-1.82;-1.82|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Pectin lyase fold/virulence factor (1);F-box domain, Skp2-like (1);Pectin lyase fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85457|0.85457	0.5701|0.5701	M|M	0.92923|0.92923	3.36|3.36	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.89218|0.89218	0.3569|0.3569	10|5	0.87932|.	D|.	0|.	-8.3542|-8.3542	15.7693|15.7693	0.78152|0.78152	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	128;704|.	B3KUR1;Q86XK2|.	.;FBX11_HUMAN|.	K|K	620;704;620;128|495	ENSP00000385398:I620K;ENSP00000384823:I704K;ENSP00000323822:I620K;ENSP00000397359:I128K|.	ENSP00000323822:I620K|.	I|N	-|-	2|3	0|2	FBXO11|FBXO11	47893993|47893993	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.287000|9.287000	0.95975|0.95975	2.180000|2.180000	0.69256|0.69256	0.533000|0.533000	0.62120|0.62120	ATA|AAT		0.294	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		73	140	0	0	0	1	0	73	140				
KRTAP4-11	653240	broad.mit.edu	37	17	39274170	39274170	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr17:39274170G>T	ENST00000391413.2	-	1	436	c.398C>A	c.(397-399)aCc>aAc	p.T133N		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	133	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gtggcagcaggtgggctggca	0.672																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(397-399)aCc>aAc		keratin associated protein 4-11							7.0	13.0	11.0					17																	39274170		677	1579	2256	SO:0001583	missense	653240					keratin filament		g.chr17:39274170G>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.398C>A	17.37:g.39274170G>T	ENSP00000375232:p.Thr133Asn						p.T133N	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	436	-		Breast(137;0.000496)	133			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.398C>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	16.39	3.108575	0.56291	.	.	ENSG00000212721	ENST00000391413	T	0.01464	4.86	4.58	1.2	0.21068	.	2.577010	0.03019	U	0.150524	T	0.05135	0.0137	M	0.93062	3.375	0.09310	N	1	B	0.33413	0.411	B	0.32022	0.139	T	0.48692	-0.9013	10	0.48119	T	0.1	.	2.0576	0.03585	0.1147:0.2125:0.4176:0.2553	.	133	Q9BYQ6	KR411_HUMAN	N	133	ENSP00000375232:T133N	ENSP00000375232:T133N	T	-	2	0	KRTAP4-11	36527696	0.000000	0.05858	0.916000	0.36221	0.959000	0.62525	-4.569000	0.00214	0.919000	0.36945	0.514000	0.50259	ACC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	82	1	0	0.0293803	1	0.0298061	4	82				
PRKCA	5578	broad.mit.edu	37	17	64684479	64684479	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr17:64684479G>A	ENST00000413366.3	+	7	772	c.746G>A	c.(745-747)cGa>cAa	p.R249Q		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	249	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	GACTGGGATCGAACAACAAGG	0.463																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(745-747)cGa>cAa		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						168.0	148.0	155.0					17																	64684479		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64684479G>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.746G>A	17.37:g.64684479G>A	ENSP00000408695:p.Arg249Gln						p.R249Q	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		7	772	+			249			C2.		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.746G>A	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190123	0.94923	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	T	0.70164	-0.46	5.2	5.2	0.72013	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000003	T	0.74344	0.3704	M	0.73598	2.24	0.80722	D	1	P;D	0.56035	0.824;0.974	B;P	0.49502	0.426;0.613	T	0.74188	-0.3746	10	0.33141	T	0.24	.	19.101	0.93274	0.0:0.0:1.0:0.0	.	249;160	P17252;Q59FI5	KPCA_HUMAN;.	Q	249;156	ENSP00000408695:R249Q	ENSP00000284384:R156Q	R	+	2	0	PRKCA	62114941	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.535000	0.82014	2.580000	0.87095	0.555000	0.69702	CGA		0.463	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			61	83	0	0	0	1	0	61	83				
MYH7	4625	broad.mit.edu	37	14	23889440	23889440	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr14:23889440G>A	ENST00000355349.3	-	27	3502	c.3340C>T	c.(3340-3342)Cgc>Tgc	p.R1114C	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1114					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		tcctcGATGCGTGCCTGGTCA	0.637																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(3340-3342)Cgc>Tgc		myosin, heavy chain 7, cardiac muscle, beta							17.0	17.0	17.0					14																	23889440		2202	4285	6487	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23889440G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3340C>T	14.37:g.23889440G>A	ENSP00000347507:p.Arg1114Cys						p.R1114C	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	27	3502	-	all_cancers(95;2.54e-05)		1114					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3340C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629920	0.67015	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.83914	-1.78	5.13	5.13	0.70059	Myosin tail (1);	.	.	.	.	D	0.94486	0.8225	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96038	0.9022	9	0.87932	D	0	.	18.771	0.91892	0.0:0.0:1.0:0.0	.	1114	P12883	MYH7_HUMAN	C	1114	ENSP00000347507:R1114C	ENSP00000347507:R1114C	R	-	1	0	MYH7	22959280	1.000000	0.71417	0.953000	0.39169	0.172000	0.22775	9.487000	0.97945	2.678000	0.91216	0.655000	0.94253	CGC		0.637	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		3	49	0	0	0	1	0	3	49				
GALNT3	2591	broad.mit.edu	37	2	166615936	166615936	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:166615936C>T	ENST00000392701.3	-	5	1758	c.983G>A	c.(982-984)cGt>cAt	p.R328H	GALNT3_ENST00000409882.1_Missense_Mutation_p.R66H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	328					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AAAATTTCCACGGTTATGGTT	0.413																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(982-984)cGt>cAt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							86.0	85.0	85.0					2																	166615936		2203	4300	6503	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166615936C>T		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.983G>A	2.37:g.166615936C>T	ENSP00000376465:p.Arg328His					GALNT3_ENST00000409882.1_Missense_Mutation_p.R66H	p.R328H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			5	1758	-			328					Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.983G>A	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436816	0.96168	.	.	ENSG00000115339	ENST00000392701;ENST00000409882;ENST00000412248	T;T;T	0.61627	0.09;0.09;0.09	5.56	5.56	0.83823	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84034	0.0361	10	0.41790	T	0.15	.	19.5324	0.95234	0.0:1.0:0.0:0.0	.	328	Q14435	GALT3_HUMAN	H	328;66;328	ENSP00000376465:R328H;ENSP00000386955:R66H;ENSP00000412643:R328H	ENSP00000376465:R328H	R	-	2	0	GALNT3	166324182	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.609000	0.88269	0.563000	0.77884	CGT		0.413	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		46	59	0	0	0	1	0	46	59				
GLRA3	8001	broad.mit.edu	37	4	175603980	175603980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr4:175603980G>A	ENST00000274093.3	-	6	1187	c.685C>T	c.(685-687)Cga>Tga	p.R229*	GLRA3_ENST00000340217.5_Nonsense_Mutation_p.R229*	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	229					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	GTGCAGTATCGTAAATCTTTT	0.368																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(685-687)Cga>Tga		glycine receptor, alpha 3	Glycine(DB00145)						143.0	136.0	138.0					4																	175603980		2203	4300	6503	SO:0001587	stop_gained	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175603980G>A	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.685C>T	4.37:g.175603980G>A	ENSP00000274093:p.Arg229*					GLRA3_ENST00000340217.5_Nonsense_Mutation_p.R229*	p.R229*	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	6	1187	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	229					D3DP44|O75816|Q5D0E3	Nonsense_Mutation	SNP	ENST00000274093.3	37	c.685C>T	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	41	8.892875	0.98992	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	.	.	.	5.62	5.62	0.85841	.	0.054951	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	9.4019	0.38437	0.0821:0.1476:0.7703:0.0	.	.	.	.	X	229	.	ENSP00000274093:R229X	R	-	1	2	GLRA3	175840555	0.204000	0.23447	1.000000	0.80357	0.917000	0.54804	0.711000	0.25764	2.642000	0.89623	0.655000	0.94253	CGA		0.368	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			56	62	0	0	0	1	0	56	62				
TUBBP5	643224	broad.mit.edu	37	9	141070071	141070071	+	RNA	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:141070071G>A	ENST00000503395.1	+	0	1151									tubulin, beta pseudogene 5																		TACGTGCCCCGCGCTGTGCTC	0.706																																						ENST00000503395.1																			0																																																			0							g.chr9:141070071G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070071G>A														0	1151	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.706	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		34	61	0	0	0	1	0	34	61				
SACS	26278	broad.mit.edu	37	13	23909715	23909715	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr13:23909715C>T	ENST00000382292.3	-	9	8573	c.8300G>A	c.(8299-8301)gGc>gAc	p.G2767D	SACS_ENST00000382298.3_Missense_Mutation_p.G2767D|SACS_ENST00000402364.1_Missense_Mutation_p.G2017D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2767					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTGATTTTGCCCTTTACTGA	0.348																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(8299-8301)gGc>gAc		spastic ataxia of Charlevoix-Saguenay (sacsin)							90.0	83.0	86.0					13																	23909715		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909715C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8300G>A	13.37:g.23909715C>T	ENSP00000371729:p.Gly2767Asp					SACS_ENST00000382292.3_Missense_Mutation_p.G2767D|SACS_ENST00000402364.1_Missense_Mutation_p.G2017D	p.G2767D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	8888	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2767					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8300G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236636	0.79800	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87256	-2.11;-2.23;-2.11	5.2	5.2	0.72013	.	0.057290	0.64402	D	0.000001	T	0.78509	0.4294	N	0.08118	0	0.44890	D	0.997907	P	0.42827	0.791	B	0.40864	0.342	T	0.81462	-0.0922	10	0.45353	T	0.12	.	19.0749	0.93156	0.0:1.0:0.0:0.0	.	2767	Q9NZJ4	SACS_HUMAN	D	2767;2017;2767	ENSP00000371729:G2767D;ENSP00000385844:G2017D;ENSP00000371735:G2767D	ENSP00000371729:G2767D	G	-	2	0	SACS	22807715	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.869000	0.69613	2.584000	0.87258	0.462000	0.41574	GGC		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		4	206	0	0	0	1	0	4	206				
MYO5B	4645	broad.mit.edu	37	18	47369674	47369674	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr18:47369674G>A	ENST00000285039.7	-	34	4847	c.4548C>T	c.(4546-4548)aaC>aaT	p.N1516N	MYO5B_ENST00000324581.6_Silent_p.N631N|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Silent_p.N86N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1516					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGAGATCGTCGTTGGTGTAGT	0.567																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(4546-4548)aaC>aaT		myosin VB							108.0	108.0	108.0					18																	47369674		2077	4210	6287	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47369674G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4548C>T	18.37:g.47369674G>A						MYO5B_ENST00000324581.6_Silent_p.N631N|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Silent_p.N86N	p.N1516N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	34	4847	-			1516					B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.4548C>T	CCDS42436.1																																																																																				0.567	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			64	72	0	0	0	1	0	64	72				
DCHS1	8642	broad.mit.edu	37	11	6644395	6644395	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr11:6644395T>C	ENST00000299441.3	-	21	8923	c.8512A>G	c.(8512-8514)Aca>Gca	p.T2838A	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2838	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTCATCTGTGGCCTGCACG	0.572																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(8512-8514)Aca>Gca		dachsous cadherin-related 1							35.0	31.0	32.0					11																	6644395		2200	4294	6494	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6644395T>C	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8512A>G	11.37:g.6644395T>C	ENSP00000299441:p.Thr2838Ala						p.T2838A	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8923	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2838			Cadherin 27.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.8512A>G	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057434	0.36277	.	.	ENSG00000166341	ENST00000299441	T	0.62498	0.02	4.97	4.97	0.65823	Cadherin (3);Cadherin-like (1);	0.000000	0.40640	N	0.001048	T	0.63498	0.2516	M	0.70842	2.15	0.36631	D	0.87628	P	0.43788	0.817	B	0.41764	0.366	T	0.74523	-0.3637	10	0.56958	D	0.05	.	13.6294	0.62186	0.0:0.0:0.0:1.0	.	2838	Q96JQ0	PCD16_HUMAN	A	2838	ENSP00000299441:T2838A	ENSP00000299441:T2838A	T	-	1	0	DCHS1	6600971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.690000	0.47001	2.092000	0.63282	0.533000	0.62120	ACA		0.572	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		13	18	0	0	0	1	0	13	18				
RGAG1	57529	broad.mit.edu	37	X	109694736	109694736	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:109694736G>A	ENST00000465301.2	+	3	1137	c.891G>A	c.(889-891)ccG>ccA	p.P297P	RGAG1_ENST00000540313.1_Silent_p.P297P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	297										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TACCTACCCCGCTCATGTCAG	0.483																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(889-891)ccG>ccA		retrotransposon gag domain containing 1							180.0	155.0	164.0					X																	109694736		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109694736G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.891G>A	X.37:g.109694736G>A						RGAG1_ENST00000540313.1_Silent_p.P297P	p.P297P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	1137	+			297					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.891G>A	CCDS14552.1																																																																																				0.483	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		5	431	0	0	0	1	0	5	431				
ARHGEF18	23370	broad.mit.edu	37	19	7528785	7528785	+	Missense_Mutation	SNP	C	C	T	rs149572002		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:7528785C>T	ENST00000359920.6	+	12	2406	c.2153C>T	c.(2152-2154)cCg>cTg	p.P718L	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R676C|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.P560L	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	718					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TCCACAGGCCCGCCCAGGAGG	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		14064	0.0		0.001	False		,,,				2504	0.0					ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(2152-2154)cCg>cTg		Rho/Rac guanine nucleotide exchange factor (GEF) 18		C	LEU/PRO,LEU/PRO	1,4383		0,1,2191	20.0	22.0	21.0		2153,1679	1.1	0.0	19	dbSNP_134	21	0,8566		0,0,4283	no	missense,missense	ARHGEF18	NM_001130955.1,NM_015318.3	98,98	0,1,6474	TT,TC,CC		0.0,0.0228,0.0077	benign,benign	718/1174,560/1016	7528785	1,12949	2192	4283	6475	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7528785C>T	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2153C>T	19.37:g.7528785C>T	ENSP00000352995:p.Pro718Leu					ARHGEF18_ENST00000319670.9_Missense_Mutation_p.P560L|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R676C	p.P718L	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			12	2406	+		Renal(5;0.0902)	718					A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.2153C>T	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.485748	0.26686	2.28E-4	0.0	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.15256	2.44;2.44	4.63	1.11	0.20524	.	1.219970	0.06317	N	0.703805	T	0.04634	0.0126	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37888	-0.9686	10	0.25106	T	0.35	-0.1488	7.7201	0.28727	0.0:0.2705:0.0:0.7295	.	560;718	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	L	560;718	ENSP00000319200:P560L;ENSP00000352995:P718L	ENSP00000319200:P560L	P	+	2	0	ARHGEF18	7434785	0.087000	0.21565	0.014000	0.15608	0.370000	0.29829	1.591000	0.36665	-0.027000	0.13873	-0.477000	0.04895	CCG		0.682	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		10	12	0	0	0	1	0	10	12				
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*|AC080008.1_ENST00000584173.1_RNA	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7981-7983)Cga>Tga		kalirin, RhoGEF kinase							132.0	121.0	125.0					3																	124418865		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124418865C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2890C>T	3.37:g.124418865C>T	ENSP00000291478:p.Arg964*					KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*	p.R2661*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			56	8108	+			2660					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7981C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	42	9.571042	0.99208	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	.	.	.	6.17	3.15	0.36227	.	0.209202	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1047	0.65080	0.6612:0.3388:0.0:0.0	.	.	.	.	X	2661;964;932	.	ENSP00000291478:R964X	R	+	1	2	KALRN	125901555	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.467000	0.35321	0.920000	0.36970	-0.152000	0.13540	CGA		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		4	244	0	0	0	1	0	4	244				
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C	rs528924232		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:53856761T>C	ENST00000595091.1	+	5	3052	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000458035.1_Missense_Mutation_p.C945R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348																																						ENST00000458035.1																			1	Substitution - Missense(1)	p.C945R(1)	kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2833-2835)Tgt>Cgt		zinc finger protein 845							25.0	23.0	24.0					19																	53856761		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856761T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2833T>C	19.37:g.53856761T>C	ENSP00000470005:p.Cys945Arg					ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2950	+			945						Missense_Mutation	SNP	ENST00000595091.1	37	c.2833T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738844	0.15642	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85258	-1.96	2.04	0.921	0.19403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94417	0.8204	H	0.99336	4.52	0.38301	D	0.942985	D	0.89917	1.0	D	0.91635	0.999	D	0.91222	0.5007	9	0.66056	D	0.02	.	6.1858	0.20495	0.2258:0.0:0.0:0.7742	.	945	Q96IR2	ZN845_HUMAN	R	945;861	ENSP00000388311:C945R	ENSP00000412086:C861R	C	+	1	0	ZNF845	58548573	1.000000	0.71417	0.080000	0.20451	0.053000	0.15095	4.520000	0.60524	0.031000	0.15407	-0.871000	0.02989	TGT		0.348	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	22	0	0	0	1	0	4	22				
TLR5	7100	broad.mit.edu	37	1	223285750	223285750	+	Silent	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:223285750C>T	ENST00000540964.1	-	4	1085	c.624G>A	c.(622-624)ttG>ttA	p.L208L	TLR5_ENST00000342210.6_Silent_p.L208L			O60602	TLR5_HUMAN	toll-like receptor 5	208					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTCTGCTATACAAGCTATTAG	0.443																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(622-624)ttG>ttA		toll-like receptor 5							62.0	61.0	61.0					1																	223285750		2203	4300	6503	SO:0001819	synonymous_variant	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285750C>T		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.624G>A	1.37:g.223285750C>T						TLR5_ENST00000342210.6_Silent_p.L208L	p.L208L			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1085	-			208					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	c.624G>A	CCDS31033.1																																																																																				0.443	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		66	93	0	0	0	1	0	66	93				
NINL	22981	broad.mit.edu	37	20	25507065	25507065	+	Silent	SNP	G	G	T	rs142387243		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr20:25507065G>T	ENST00000278886.6	-	2	232	c.159C>A	c.(157-159)ctC>ctA	p.L53L	NINL_ENST00000422516.1_Silent_p.L53L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	53	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGTCGTTTCCGAGAAGCGTCT	0.542																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(157-159)ctC>ctA		ninein-like							118.0	125.0	123.0					20																	25507065		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25507065G>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.159C>A	20.37:g.25507065G>T						NINL_ENST00000422516.1_Silent_p.L53L	p.L53L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			2	232	-			53			EF-hand 2.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.159C>A	CCDS33452.1																																																																																				0.542	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		108	165	1	0	7.5252e-50	1	8.10406e-50	108	165				
MIR381HG	378881	broad.mit.edu	37	14	101510545	101510545	+	lincRNA	SNP	A	A	T	rs370645369		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr14:101510545A>T	ENST00000553692.1	+	0	0				MIR1185-1_ENST00000408598.1_RNA|MIR1185-2_ENST00000408687.1_RNA|MIR487B_ENST00000385021.1_RNA|MIR300_ENST00000401138.1_RNA|MIR381_ENST00000362150.1_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		TTTGGTACTTAAAGAGAGGAT	0.522																																						ENST00000408687.1																			0																				90.0	83.0	85.0					14																	101510545		1568	3582	5150			0							g.chr14:101510545A>T	AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101510545A>T								NR_031571.1						0	11	+									RNA	SNP	ENST00000553692.1	37																																																																																						0.522	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			5	140	0	0	0	1	0	5	140				
PCDHGA3	56112	broad.mit.edu	37	5	140723837	140723837	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:140723837G>A	ENST00000253812.6	+	1	237	c.237G>A	c.(235-237)ccG>ccA	p.P79P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		P -> S (in dbSNP:rs11575947).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGAATCCGCAAAGCGGCA	0.587											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253812.6																			0				breast(1)	1						c.(235-237)ccG>ccA									55.0	65.0	62.0					5																	140723837		2171	4291	6462	SO:0001819	synonymous_variant	0							g.chr5:140723837G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.237G>A	5.37:g.140723837G>A			OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.P79P	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	237	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.237G>A	CCDS47290.1																																																																																				0.587	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		4	220	0	0	0	1	0	4	220				
CRLF2	64109	broad.mit.edu	37	X	1325396	1325396	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:1325396G>A	ENST00000381567.3	-	3	278	c.279C>T	c.(277-279)gaC>gaT	p.D93D	CRLF2_ENST00000381566.1_Silent_p.D93D|CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	93					immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AATAGAGAATGTCGTCTCGCT	0.517			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""																																	ENST00000381567.3				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	64109	"""Mis, T"""	cytokine receptor-like factor 2			L	"""P2RY8, IGH@"""		"""B-ALL, Downs associated ALL"""		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20						c.(277-279)gaC>gaT		cytokine receptor-like factor 2							242.0	238.0	239.0					X																	1325396		2007	4142	6149	SO:0001819	synonymous_variant	64109					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chrX:1325396G>A	AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"""Pseudoautosomal regions / PAR1"""	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.279C>T	X.37:g.1325396G>A						CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Silent_p.D93D	p.D93D	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN			3	278	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	93					Q9H5R3	Silent	SNP	ENST00000381567.3	37	c.279C>T																																																																																					0.517	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022148		25	189	0	0	0	1	0	25	189				
UNKL	64718	broad.mit.edu	37	16	1451675	1451675	+	Silent	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr16:1451675C>T	ENST00000389221.4	-	4	491	c.492G>A	c.(490-492)caG>caA	p.Q164Q	UNKL_ENST00000508903.2_Silent_p.Q164Q|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000301712.5_Silent_p.Q164Q|UNKL_ENST00000397462.1_Silent_p.Q251Q	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	164					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GCTGGCCGTTCTGCAAGGCTT	0.647																																						ENST00000389221.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(490-492)caG>caA		unkempt family zinc finger-like							30.0	33.0	32.0					16																	1451675		2198	4299	6497	SO:0001819	synonymous_variant	64718					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	g.chr16:1451675C>T	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.492G>A	16.37:g.1451675C>T						UNKL_ENST00000397462.1_Silent_p.Q251Q|UNKL_ENST00000508903.2_Silent_p.Q164Q|UNKL_ENST00000301712.5_Silent_p.Q164Q|UNKL_ENST00000503648.1_5'UTR	p.Q164Q	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN			4	491	-		Hepatocellular(780;0.0893)	164					B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Silent	SNP	ENST00000389221.4	37	c.492G>A	CCDS53981.1																																																																																				0.647	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		3	61	0	0	0	1	0	3	61				
SLC26A4	5172	broad.mit.edu	37	7	107340552	107340552	+	Missense_Mutation	SNP	A	A	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr7:107340552A>C	ENST00000265715.3	+	15	1863	c.1639A>C	c.(1639-1641)Att>Ctt	p.I547L	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.I108L|SLC26A4_ENST00000543100.1_Missense_Mutation_p.I116L|SLC26A4_ENST00000544569.1_Missense_Mutation_p.I134L	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	547	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGGAGTGAAGATTCTTAGATT	0.318									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1639-1641)Att>Ctt		solute carrier family 26 (anion exchanger), member 4							116.0	120.0	119.0					7																	107340552		2202	4300	6502	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107340552A>C	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1639A>C	7.37:g.107340552A>C	ENSP00000265715:p.Ile547Leu					SLC26A4_ENST00000544569.1_Missense_Mutation_p.I134L|SLC26A4_ENST00000541474.1_Missense_Mutation_p.I108L|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000543100.1_Missense_Mutation_p.I116L	p.I547L	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			15	1863	+			547			STAS.		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.1639A>C	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.976581	0.92982	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.55	5.55	0.83447	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	M	0.86651	2.83	0.47862	D	0.999535	D;D;P	0.71674	0.997;0.998;0.924	D;D;P	0.83275	0.993;0.996;0.717	D	0.96515	0.9381	10	0.87932	D	0	.	15.6985	0.77521	1.0:0.0:0.0:0.0	.	108;134;547	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	L	547;108;134;116	ENSP00000265715:I547L;ENSP00000439743:I108L;ENSP00000437427:I134L;ENSP00000441209:I116L	ENSP00000265715:I547L	I	+	1	0	SLC26A4	107127788	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.862000	0.87013	2.121000	0.65114	0.460000	0.39030	ATT		0.318	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		55	121	0	0	0	1	0	55	121				
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38.0	34.0	36.0					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		4	99	0	0	0	1	0	4	99				
RNASE13	440163	broad.mit.edu	37	14	21502144	21502144	+	Missense_Mutation	SNP	G	G	C	rs533949543		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr14:21502144G>C	ENST00000382951.3	-	2	441	c.304C>G	c.(304-306)Ctc>Gtc	p.L102V	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	102						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		TCCTGGGTGAGTGTGCAGTAT	0.498																																						ENST00000382951.3																			0				cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12						c.(304-306)Ctc>Gtc		ribonuclease, RNase A family, 13 (non-active)							248.0	200.0	217.0					14																	21502144		2203	4300	6503	SO:0001583	missense	440163					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21502144G>C	AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"""Ribonucleases, RNase A"""	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.304C>G	14.37:g.21502144G>C	ENSP00000372410:p.Leu102Val					NDRG2_ENST00000403829.3_Intron	p.L102V	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)	2	441	-	all_cancers(95;0.000759)		102						Missense_Mutation	SNP	ENST00000382951.3	37	c.304C>G	CCDS32039.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773249	0.31411	.	.	ENSG00000206150	ENST00000382951	T	0.73047	-0.71	5.42	-3.37	0.04898	Ribonuclease A, domain (3);	0.669732	0.12899	N	0.429962	T	0.43612	0.1255	N	0.19112	0.55	0.09310	N	1	B	0.20261	0.043	B	0.24394	0.053	T	0.25363	-1.0134	10	0.20519	T	0.43	-13.7273	0.4104	0.00440	0.2345:0.2386:0.2833:0.2436	.	102	Q5GAN3	RNS13_HUMAN	V	102	ENSP00000372410:L102V	ENSP00000372410:L102V	L	-	1	0	RNASE13	20571984	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	-0.887000	0.04152	-0.582000	0.05929	0.650000	0.86243	CTC		0.498	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411744.1			94	129	0	0	0	1	0	94	129				
NOTCH1	4851	broad.mit.edu	37	9	139412664	139412664	+	Missense_Mutation	SNP	C	C	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:139412664C>A	ENST00000277541.6	-	7	1255	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	394	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGGCCTTGCCATTGACAGGG	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1180-1182)Ggc>Tgc		notch 1							66.0	74.0	72.0					9																	139412664		2153	4263	6416	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412664C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1180G>T	9.37:g.139412664C>A	ENSP00000277541:p.Gly394Cys	HNSCC(8;0.001)					p.G394C	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	7	1255	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	394			EGF-like 10.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1180G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802980	0.90623	.	.	ENSG00000148400	ENST00000277541	D	0.86562	-2.14	4.82	4.82	0.62117	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96090	0.8726	H	0.98005	4.125	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.97779	1.0231	10	0.66056	D	0.02	.	16.8825	0.86067	0.0:1.0:0.0:0.0	.	394	P46531	NOTC1_HUMAN	C	394	ENSP00000277541:G394C	ENSP00000277541:G394C	G	-	1	0	NOTCH1	138532485	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	7.304000	0.78882	2.223000	0.72356	0.514000	0.50259	GGC		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		9	14	1	0	0.00448238	1	0.00461422	9	14				
CX3CL1	6376	broad.mit.edu	37	16	57416150	57416150	+	Missense_Mutation	SNP	G	G	A	rs558560542		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr16:57416150G>A	ENST00000006053.6	+	3	511	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	CX3CL1_ENST00000563383.1_Missense_Mutation_p.E140K|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000565912.1_Missense_Mutation_p.E96K	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	134	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGCCACAGGCGAAAGCAGTAG	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		16015	0.001		0.0	False		,,,				2504	0.0					ENST00000565912.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(286-288)Gaa>Aaa		chemokine (C-X3-C motif) ligand 1							28.0	31.0	30.0					16																	57416150		2176	4273	6449	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416150G>A	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.400G>A	16.37:g.57416150G>A	ENSP00000006053:p.Glu134Lys					CX3CL1_ENST00000006053.6_Missense_Mutation_p.E134K|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Missense_Mutation_p.E140K	p.E96K			P78423	X3CL1_HUMAN			2	2992	+			134			Chemokine.		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.286G>A	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377866	0.42105	.	.	ENSG00000006210	ENST00000006053	T	0.04917	3.53	5.52	0.842	0.18927	.	4.963130	0.00357	N	0.000026	T	0.06188	0.0160	L	0.32530	0.975	0.09310	N	1	P	0.39404	0.672	B	0.28553	0.091	T	0.44236	-0.9341	10	0.87932	D	0	-18.0981	9.5259	0.39165	0.0:0.4781:0.3725:0.1494	.	134	P78423	X3CL1_HUMAN	K	134	ENSP00000006053:E134K	ENSP00000006053:E134K	E	+	1	0	CX3CL1	55973651	0.003000	0.15002	0.002000	0.10522	0.027000	0.11550	0.493000	0.22451	0.233000	0.21120	0.650000	0.86243	GAA		0.667	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		4	114	0	0	0	1	0	4	114				
MAST4	375449	broad.mit.edu	37	5	66459037	66459037	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:66459037G>A	ENST00000403625.2	+	29	4325	c.4030G>A	c.(4030-4032)Ggg>Agg	p.G1344R	MAST4_ENST00000403666.1_Missense_Mutation_p.G1155R|MAST4_ENST00000404260.3_Missense_Mutation_p.G1347R|MAST4_ENST00000261569.7_Missense_Mutation_p.G1150R|MAST4_ENST00000405643.1_Missense_Mutation_p.G1165R	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1347	Ser-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCAGGGTCCGGGCACATCCG	0.612																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(4039-4041)Ggg>Agg		microtubule associated serine/threonine kinase family member 4							100.0	111.0	107.0					5																	66459037		1953	4138	6091	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66459037G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4030G>A	5.37:g.66459037G>A	ENSP00000385727:p.Gly1344Arg					MAST4_ENST00000403625.2_Missense_Mutation_p.G1344R|MAST4_ENST00000405643.1_Missense_Mutation_p.G1165R|MAST4_ENST00000403666.1_Missense_Mutation_p.G1155R|MAST4_ENST00000261569.7_Missense_Mutation_p.G1150R	p.G1347R			O15021	MAST4_HUMAN		Lung(70;0.011)	29	4347	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1347					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.4039G>A	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.39|14.39	2.520072|2.520072	0.44866|0.44866	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.31510|.	1.49;1.49;1.49;1.49;1.49|.	5.89|5.89	5.02|5.02	0.67125|0.67125	.|.	.|.	.|.	.|.	.|.	T|T	0.75042|0.75042	0.3796|0.3796	M|M	0.78801|0.78801	2.425|2.425	0.36119|0.36119	D|D	0.845377|0.845377	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.994;0.982|.	T|T	0.81553|0.81553	-0.0880|-0.0880	9|5	0.59425|.	D|.	0.04|.	-9.8717|-9.8717	15.0637|15.0637	0.71977|0.71977	0.0678:0.0:0.9322:0.0|0.0678:0.0:0.9322:0.0	.|.	1347;1155|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	R|Q	1347;1344;1155;1165;1165;1150|400	ENSP00000385048:G1347R;ENSP00000385727:G1344R;ENSP00000384313:G1155R;ENSP00000384099:G1165R;ENSP00000261569:G1150R|.	ENSP00000261569:G1150R|.	G|R	+|+	1|2	0|0	MAST4|MAST4	66494793|66494793	1.000000|1.000000	0.71417|0.71417	0.893000|0.893000	0.35052|0.35052	0.019000|0.019000	0.09904|0.09904	6.607000|6.607000	0.74163|0.74163	1.526000|1.526000	0.49068|0.49068	-0.142000|-0.142000	0.14014|0.14014	GGG|CGG		0.612	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			28	333	0	0	0	1	0	28	333				
NEB	4703	broad.mit.edu	37	2	152425801	152425801	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:152425801G>A	ENST00000172853.10	-	82	12560	c.12413C>T	c.(12412-12414)gCc>gTc	p.A4138V	NEB_ENST00000409198.1_Missense_Mutation_p.A4138V|NEB_ENST00000397345.3_Missense_Mutation_p.A5839V|NEB_ENST00000427231.2_Missense_Mutation_p.A5839V|NEB_ENST00000603639.1_Missense_Mutation_p.A5839V|NEB_ENST00000604864.1_Missense_Mutation_p.A5839V			P20929	NEBU_HUMAN	nebulin	4138					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATGTCCGCGGCATGTTTGGC	0.433																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(17515-17517)gCc>gTc		nebulin							105.0	108.0	107.0					2																	152425801		1983	4155	6138	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152425801G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12413C>T	2.37:g.152425801G>A	ENSP00000172853:p.Ala4138Val					NEB_ENST00000172853.10_Missense_Mutation_p.A4138V|NEB_ENST00000427231.2_Missense_Mutation_p.A5839V|NEB_ENST00000409198.1_Missense_Mutation_p.A4138V|NEB_ENST00000603639.1_Missense_Mutation_p.A5839V|NEB_ENST00000604864.1_Missense_Mutation_p.A5839V	p.A5839V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	110	17718	-			5858					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.17516C>T		.	.	.	.	.	.	.	.	.	.	G	24.3	4.512750	0.85389	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.14893	2.78;2.69;2.68;2.47;2.78	6.08	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.81341	2.54	0.80722	D	1	P;D	0.69078	0.472;0.997	B;D	0.77004	0.405;0.989	T	0.48258	-0.9051	10	0.59425	D	0.04	.	15.0938	0.72217	0.0682:0.0:0.9318:0.0	.	4138;569	P20929;Q14215	NEBU_HUMAN;.	V	4138;5839;5839;187;569;4138	ENSP00000386259:A4138V;ENSP00000380505:A5839V;ENSP00000416578:A5839V;ENSP00000410961:A569V;ENSP00000172853:A4138V	ENSP00000172853:A4138V	A	-	2	0	NEB	152134047	1.000000	0.71417	0.960000	0.40013	0.950000	0.60333	5.329000	0.65892	1.594000	0.50039	0.655000	0.94253	GCC		0.433	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		44	53	0	0	0	1	0	44	53				
WNK1	65125	broad.mit.edu	37	12	936450	936450	+	Intron	SNP	G	G	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr12:936450G>T	ENST00000315939.6	+	3	1796				WNK1_ENST00000530271.2_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000447667.2_Missense_Mutation_p.G392V|WNK1_ENST00000535572.1_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGTACCTTGGAGCCTGACTG	0.453																																					Colon(19;451 567 6672 12618 28860)	ENST00000447667.2																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(1174-1176)gGa>gTa		WNK lysine deficient protein kinase 1							66.0	69.0	68.0					12																	936450		2203	4300	6503	SO:0001627	intron_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:936450G>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1153+22G>T	12.37:g.936450G>T						WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Intron|WNK1_ENST00000315939.6_Intron	p.G392V			Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		3	1685	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		0			Protein kinase.		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.1175G>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723587	0.30593	.	.	ENSG00000060237	ENST00000447667	T	0.71698	-0.59	5.02	-0.553	0.11815	.	.	.	.	.	T	0.47060	0.1425	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.21348	-1.0248	7	.	.	.	.	2.8681	0.05608	0.1442:0.3843:0.2769:0.1946	.	392	F6UYG0	.	V	392	ENSP00000392542:G392V	.	G	+	2	0	WNK1	806711	1.000000	0.71417	0.017000	0.16124	0.741000	0.42261	0.673000	0.25203	-0.009000	0.14296	0.591000	0.81541	GGA		0.453	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		10	122	1	0	0.000442599	1	0.000462417	10	122				
B3GALNT2	148789	broad.mit.edu	37	1	235617570	235617570	+	Silent	SNP	C	C	T	rs375288669		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:235617570C>T	ENST00000366600.3	-	10	1437	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	403					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			AAGCGGGGCTCGGGTACTCCA	0.507																																						ENST00000366600.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1207-1209)ccG>ccA		beta-1,3-N-acetylgalactosaminyltransferase 2		C		0,4406		0,0,2203	72.0	67.0	69.0		1209	-8.4	0.1	1		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	B3GALNT2	NM_152490.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		403/501	235617570	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235617570C>T	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.1209G>A	1.37:g.235617570C>T							p.P403P	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		10	1437	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	403					Q59GR3|Q5TCI3|Q96AL7	Silent	SNP	ENST00000366600.3	37	c.1209G>A	CCDS1606.1																																																																																				0.507	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		54	124	0	0	0	1	0	54	124				
PARP3	10039	broad.mit.edu	37	3	51979052	51979052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:51979052C>T	ENST00000417220.2	+	7	1161	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	PARP3_ENST00000398755.3_Nonsense_Mutation_p.Q232*|PARP3_ENST00000431474.1_Nonsense_Mutation_p.Q225*			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	225	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGCAAGCAACAGATTGCACG	0.627																																						ENST00000417220.2																			0				ovary(1)	1						c.(673-675)Cag>Tag		poly (ADP-ribose) polymerase family, member 3							49.0	57.0	54.0					3																	51979052		1991	4170	6161	SO:0001587	stop_gained	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51979052C>T	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.673C>T	3.37:g.51979052C>T	ENSP00000395951:p.Gln225*					PARP3_ENST00000431474.1_Nonsense_Mutation_p.Q225*|PARP3_ENST00000398755.3_Nonsense_Mutation_p.Q232*	p.Q225*			Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	7	1161	+			225			PARP alpha-helical.		Q8NER9|Q96CG2|Q9UG81	Nonsense_Mutation	SNP	ENST00000417220.2	37	c.673C>T	CCDS43097.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213437	0.79352	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755;ENST00000498510	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-31.0513	18.5299	0.90987	0.0:1.0:0.0:0.0	.	.	.	.	X	225;225;232;225	.	ENSP00000381740:Q232X	Q	+	1	0	PARP3	51954092	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	5.697000	0.68295	2.722000	0.93159	0.655000	0.94253	CAG		0.627	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		48	76	0	0	0	1	0	48	76				
SLC9A2	6549	broad.mit.edu	37	2	103317573	103317573	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:103317573G>A	ENST00000233969.2	+	8	1773	c.1631G>A	c.(1630-1632)cGg>cAg	p.R544Q	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	544					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTTTTGATTCGGGAAAACCAA	0.318																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1630-1632)cGg>cAg		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							48.0	51.0	50.0					2																	103317573		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103317573G>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1631G>A	2.37:g.103317573G>A	ENSP00000233969:p.Arg544Gln					SLC9A2_ENST00000469286.1_3'UTR	p.R544Q	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			8	1773	+			544					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.1631G>A	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173392	0.94807	.	.	ENSG00000115616	ENST00000233969	T	0.59083	0.29	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.81614	2.55	0.51233	D	0.999916	D	0.89917	1.0	D	0.80764	0.994	T	0.80549	-0.1333	10	0.66056	D	0.02	.	19.5565	0.95351	0.0:0.0:1.0:0.0	.	544	Q9UBY0	SL9A2_HUMAN	Q	544	ENSP00000233969:R544Q	ENSP00000233969:R544Q	R	+	2	0	SLC9A2	102684005	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.918000	0.63376	2.626000	0.88956	0.467000	0.42956	CGG		0.318	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			98	127	0	0	0	1	0	98	127				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			63	101	0	0	0	1	0	63	101				
MYCBP2	23077	broad.mit.edu	37	13	77667377	77667377	+	Silent	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr13:77667377C>T	ENST00000544440.2	-	59	10193	c.10176G>A	c.(10174-10176)ccG>ccA	p.P3392P	MYCBP2_ENST00000407578.2_Silent_p.P3430P|MYCBP2_ENST00000357337.6_Silent_p.P3392P|MYCBP2-AS1_ENST00000593933.1_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGATATATACGGGGCAGGTA	0.393																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(10288-10290)ccG>ccA		MYC binding protein 2, E3 ubiquitin protein ligase							172.0	165.0	168.0					13																	77667377		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77667377C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10176G>A	13.37:g.77667377C>T						MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Silent_p.P3392P|MYCBP2_ENST00000544440.2_Silent_p.P3392P	p.P3430P	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	59	10556	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3392						Silent	SNP	ENST00000544440.2	37	c.10290G>A																																																																																					0.393	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		116	143	0	0	0	1	0	116	143				
ZHX3	23051	broad.mit.edu	37	20	39832611	39832611	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr20:39832611T>C	ENST00000309060.3	-	4	1361	c.946A>G	c.(946-948)Aac>Gac	p.N316D	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.N316D|ZHX3_ENST00000560361.1_Missense_Mutation_p.N316D|ZHX3_ENST00000544979.2_Missense_Mutation_p.N316D|ZHX3_ENST00000540170.1_Missense_Mutation_p.N316D|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.N316D			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	316	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGGAAGCTGTTAGAGTCCATG	0.537																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(946-948)Aac>Gac		zinc fingers and homeoboxes 3							106.0	100.0	102.0					20																	39832611		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832611T>C	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.946A>G	20.37:g.39832611T>C	ENSP00000312222:p.Asn316Asp					ZHX3_ENST00000540170.1_Missense_Mutation_p.N316D|ZHX3_ENST00000560361.1_Missense_Mutation_p.N316D|ZHX3_ENST00000559234.1_Missense_Mutation_p.N316D|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.N316D|ZHX3_ENST00000432768.2_Missense_Mutation_p.N316D	p.N316D			Q9H4I2	ZHX3_HUMAN			4	1361	-		Myeloproliferative disorder(115;0.00425)	316			Required for homodimerization and interaction with NFYA.|Required for repressor activity.		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.946A>G	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179069	0.57692	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.37058	1.22;2.63;2.63;2.41;1.22	5.88	5.88	0.94601	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.141163	0.64402	D	0.000008	T	0.60856	0.2301	M	0.70275	2.135	0.39858	D	0.97333	D;D;D	0.89917	0.997;0.985;1.0	D;D;D	0.91635	0.974;0.94;0.999	T	0.65434	-0.6169	10	0.66056	D	0.02	-34.744	16.3009	0.82811	0.0:0.0:0.0:1.0	.	316;316;316	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	D	316;316;316;316;94;316	ENSP00000312222:N316D;ENSP00000362360:N316D;ENSP00000442290:N316D;ENSP00000443783:N316D;ENSP00000415498:N316D	ENSP00000312222:N316D	N	-	1	0	ZHX3	39266025	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.143000	0.64826	2.246000	0.74042	0.533000	0.62120	AAC		0.537	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		16	122	0	0	0	1	0	16	122				
OR10X1	128367	broad.mit.edu	37	1	158549195	158549195	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:158549195G>A	ENST00000368150.1	-	1	494	c.495C>T	c.(493-495)tgC>tgT	p.C165C		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGCCTGCAGTGCAAGCAGAGG	0.468																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(493-495)tgC>tgT		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							53.0	54.0	54.0					1																	158549195		2203	4300	6503	SO:0001819	synonymous_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549195G>A	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.495C>T	1.37:g.158549195G>A							p.C165C	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	494	-	all_hematologic(112;0.0378)		165					Q6IFR8	Silent	SNP	ENST00000368150.1	37	c.495C>T	CCDS30900.1																																																																																				0.468	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		9	63	0	0	0	1	0	9	63				
SH3KBP1	30011	broad.mit.edu	37	X	19713826	19713826	+	Missense_Mutation	SNP	C	C	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:19713826C>A	ENST00000397821.3	-	5	714	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.G142W|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.G105W	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	142	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCAGTCTTCCCGTTGAGAACA	0.473																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(424-426)Ggg>Tgg		SH3-domain kinase binding protein 1							143.0	116.0	125.0					X																	19713826		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19713826C>A	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.424G>T	X.37:g.19713826C>A	ENSP00000380921:p.Gly142Trp					SH3KBP1_ENST00000379697.3_Missense_Mutation_p.G142W|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.G105W	p.G142W	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			5	714	-			142			SH3 2.		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.424G>T	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701178	0.88924	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.94	5.94	0.96194	Src homology-3 domain (3);Variant SH3 (1);	0.592403	0.18384	N	0.142877	D	0.90872	0.7132	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94421	0.7641	10	0.87932	D	0	-16.284	19.2985	0.94132	0.0:1.0:0.0:0.0	.	142;105	Q96B97;Q5JPT5	SH3K1_HUMAN;.	W	83;142;50;105;78;142;89;50	ENSP00000380921:G142W;ENSP00000369020:G105W;ENSP00000369049:G78W;ENSP00000369019:G142W;ENSP00000388766:G89W;ENSP00000409292:G50W	ENSP00000369019:G142W	G	-	1	0	SH3KBP1	19623747	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.214000	0.77958	2.509000	0.84616	0.529000	0.55759	GGG		0.473	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		13	224	1	0	0.000219431	1	0.00023273	13	224				
P2RX5	5026	broad.mit.edu	37	17	3593419	3593419	+	Missense_Mutation	SNP	C	C	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr17:3593419C>A	ENST00000225328.5	-	6	957	c.559G>T	c.(559-561)Gac>Tac	p.D187Y	P2RX5_ENST00000435558.1_Missense_Mutation_p.D187Y|P2RX5_ENST00000552276.1_Missense_Mutation_p.D187Y|P2RX5_ENST00000345901.3_Missense_Mutation_p.D163Y|P2RX5_ENST00000551178.1_Missense_Mutation_p.D163Y|P2RX5_ENST00000547178.1_Missense_Mutation_p.D187Y|P2RX5_ENST00000550772.1_5'UTR|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.D187Y|P2RX5_ENST00000552050.1_Missense_Mutation_p.D127Y	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	187					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						ATGGTGAAGTCTTCGGCCTCC	0.587																																						ENST00000550383.1																			0											c.(559-561)Gac>Tac									198.0	217.0	210.0					17																	3593419		2203	4300	6503	SO:0001583	missense	0							g.chr17:3593419C>A	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.559G>T	17.37:g.3593419C>A	ENSP00000225328:p.Asp187Tyr					P2RX5_ENST00000345901.3_Missense_Mutation_p.D163Y|P2RX5_ENST00000552276.1_Missense_Mutation_p.D187Y|P2RX5_ENST00000225328.5_Missense_Mutation_p.D187Y|P2RX5_ENST00000552050.1_Missense_Mutation_p.D127Y|P2RX5_ENST00000551178.1_Missense_Mutation_p.D163Y|P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000547178.1_Missense_Mutation_p.D187Y|P2RX5_ENST00000435558.1_Missense_Mutation_p.D187Y	p.D187Y							6	747	-								G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	c.559G>T	CCDS11034.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.599063|3.599063	0.66332|0.66332	.|.	.|.	ENSG00000083454|ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050|ENST00000552723	T;T;T;T;T;T|.	0.04502|.	3.61;3.61;3.61;3.61;3.61;3.61|.	5.34|5.34	-0.722|-0.722	0.11184|0.11184	.|.	0.360434|.	0.33854|.	N|.	0.004490|.	T|T	0.49270|0.49270	0.1547|0.1547	M|M	0.61703|0.61703	1.905|1.905	0.29701|0.29701	N|N	0.84016|0.84016	D;D;D;D;D;D|.	0.62365|.	0.991;0.984;0.984;0.984;0.987;0.984|.	D;P;P;P;D;P|.	0.65874|.	0.939;0.861;0.891;0.861;0.934;0.891|.	T|T	0.52056|0.52056	-0.8626|-0.8626	10|5	0.87932|.	D|.	0|.	-7.881|-7.881	9.2979|9.2979	0.37827|0.37827	0.0:0.3485:0.0:0.6515|0.0:0.3485:0.0:0.6515	.|.	127;163;187;163;187;187|.	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4|.	.;.;.;.;P2RX5_HUMAN;.|.	Y|I	187;163;187;187;163;127|134	ENSP00000415370:D187Y;ENSP00000447545:D163Y;ENSP00000448355:D187Y;ENSP00000225328:D187Y;ENSP00000342161:D163Y;ENSP00000450006:D127Y|.	ENSP00000225328:D187Y|.	D|R	-|-	1|2	0|0	P2RX5|P2RX5	3540168|3540168	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.864000|0.864000	0.49448|0.49448	1.709000|1.709000	0.37909|0.37909	-0.036000|-0.036000	0.13669|0.13669	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.587	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		5	497	1	0	0.217242	1	0.217242	5	497				
C3P1	388503	broad.mit.edu	37	19	10158049	10158049	+	RNA	SNP	A	A	G			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:10158049A>G	ENST00000495140.1	+	0	1257							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TTCTTTGTGGACCTTAAGTTG	0.532																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13															164.0	158.0	160.0					19																	10158049		2002	4179	6181			0							g.chr19:10158049A>G	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10158049A>G														0	1257	+									RNA	SNP	ENST00000495140.1	37																																																																																						0.532	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		49	242	0	0	0	1	0	49	242				
ZSWIM4	65249	broad.mit.edu	37	19	13941471	13941471	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:13941471G>A	ENST00000254323.2	+	13	2766	c.2577G>A	c.(2575-2577)cgG>cgA	p.R859R	ZSWIM4_ENST00000440752.2_Silent_p.R693R	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	859							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCCTGGGCCGGCACGAGCTCT	0.657																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2575-2577)cgG>cgA		zinc finger, SWIM-type containing 4							120.0	116.0	117.0					19																	13941471		2203	4300	6503	SO:0001819	synonymous_variant	65249						zinc ion binding	g.chr19:13941471G>A	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2577G>A	19.37:g.13941471G>A						ZSWIM4_ENST00000440752.2_Silent_p.R693R	p.R859R	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2766	+			859						Silent	SNP	ENST00000254323.2	37	c.2577G>A	CCDS32924.1																																																																																				0.657	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		5	370	0	0	0	1	0	5	370				
OR51G2	81282	broad.mit.edu	37	11	4936857	4936857	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr11:4936857C>T	ENST00000322013.3	-	1	65	c.37G>A	c.(37-39)Gtt>Att	p.V13I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTAGCAGAAACGCTGCTGCTG	0.557																																						ENST00000322013.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(37-39)Gtt>Att		olfactory receptor, family 51, subfamily G, member 2							49.0	48.0	49.0					11																	4936857		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936857C>T	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.37G>A	11.37:g.4936857C>T	ENSP00000322593:p.Val13Ile					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.V13I	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	65	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	13					Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.37G>A	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	C	3.071	-0.191036	0.06299	.	.	ENSG00000176893	ENST00000322013	T	0.19669	2.13	0.427	-0.793	0.10922	.	1.731510	0.03496	N	0.217327	T	0.07954	0.0199	N	0.08118	0	0.09310	N	1	P	0.39404	0.672	B	0.29524	0.103	T	0.12477	-1.0546	9	0.19590	T	0.45	.	.	.	.	.	13	Q8NGK0	O51G2_HUMAN	I	13	ENSP00000322593:V13I	ENSP00000322593:V13I	V	-	1	0	OR51G2	4893433	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.946000	0.00680	-0.477000	0.06832	-0.470000	0.05040	GTT		0.557	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		49	60	0	0	0	1	0	49	60				
ZNF558	148156	broad.mit.edu	37	19	8923829	8923829	+	Missense_Mutation	SNP	C	C	G			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:8923829C>G	ENST00000601372.1	-	8	1028	c.317G>C	c.(316-318)aGa>aCa	p.R106T	ZNF558_ENST00000301475.1_Missense_Mutation_p.R106T|ZNF558_ENST00000444186.2_Missense_Mutation_p.R35T			Q96NG5	ZN558_HUMAN	zinc finger protein 558	106	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TAGAATTCCTCTTTCCTCTGT	0.463																																						ENST00000601372.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(316-318)aGa>aCa		zinc finger protein 558							208.0	167.0	181.0					19																	8923829		2203	4300	6503	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8923829C>G	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.317G>C	19.37:g.8923829C>G	ENSP00000471277:p.Arg106Thr					ZNF558_ENST00000444186.2_Missense_Mutation_p.R35T|ZNF558_ENST00000301475.1_Missense_Mutation_p.R106T	p.R106T			Q96NG5	ZN558_HUMAN			8	1028	-			106			KRAB.		A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.317G>C	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	C	4.533	0.098899	0.08681	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.08193	3.24;3.12	3.96	2.92	0.33932	Krueppel-associated box (1);	0.000000	0.37437	N	0.002090	T	0.06280	0.0162	L	0.48986	1.54	0.25691	N	0.985685	B	0.30068	0.267	B	0.19666	0.026	T	0.33727	-0.9857	10	0.10636	T	0.68	-13.5609	7.3129	0.26485	0.0:0.8817:0.0:0.1183	.	106	Q96NG5	ZN558_HUMAN	T	106;35	ENSP00000301475:R106T;ENSP00000410703:R35T	ENSP00000301475:R106T	R	-	2	0	ZNF558	8784829	0.000000	0.05858	0.141000	0.22245	0.013000	0.08279	-0.155000	0.10115	1.255000	0.44051	0.591000	0.81541	AGA		0.463	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		11	8	0	0	0	1	0	11	8				
REV3L	5980	broad.mit.edu	37	6	111694039	111694039	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr6:111694039T>C	ENST00000358835.3	-	14	5973	c.5519A>G	c.(5518-5520)tAt>tGt	p.Y1840C	REV3L_ENST00000368805.1_Missense_Mutation_p.Y1840C|REV3L_ENST00000368802.3_Missense_Mutation_p.Y1840C|REV3L_ENST00000435970.1_Missense_Mutation_p.Y1762C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1840					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTTGAAACATACAGTTCTAA	0.433								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5284-5286)tAt>tGt	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							185.0	177.0	180.0					6																	111694039		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694039T>C	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5519A>G	6.37:g.111694039T>C	ENSP00000351697:p.Tyr1840Cys					REV3L_ENST00000358835.3_Missense_Mutation_p.Y1840C|REV3L_ENST00000368802.3_Missense_Mutation_p.Y1840C|REV3L_ENST00000368805.1_Missense_Mutation_p.Y1840C	p.Y1762C			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6101	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1840					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5285A>G	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	15.46	2.838717	0.51057	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01767	4.75;4.75;4.75;4.65	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.341182	0.28683	N	0.014498	T	0.05227	0.0139	M	0.61703	1.905	0.39204	D	0.963204	D	0.89917	1.0	D	0.85130	0.997	T	0.40496	-0.9560	10	0.48119	T	0.1	-5.5071	16.3766	0.83401	0.0:0.0:0.0:1.0	.	1840	O60673	DPOLZ_HUMAN	C	1840;1840;1840;1762	ENSP00000357792:Y1840C;ENSP00000357795:Y1840C;ENSP00000351697:Y1840C;ENSP00000402003:Y1762C	ENSP00000351697:Y1840C	Y	-	2	0	REV3L	111800732	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.133000	0.57983	2.263000	0.75096	0.533000	0.62120	TAT		0.433	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		4	347	0	0	0	1	0	4	347				
FNIP1	96459	broad.mit.edu	37	5	131046325	131046325	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:131046325C>T	ENST00000510461.1	-	7	747	c.652G>A	c.(652-654)Gca>Aca	p.A218T	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.A218T|FNIP1_ENST00000307954.8_Missense_Mutation_p.A173T	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	218					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCAGAGAATGCCCGCCTGGGG	0.522																																						ENST00000307954.8																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(517-519)Gca>Aca		folliculin interacting protein 1							43.0	39.0	41.0					5																	131046325		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131046325C>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.652G>A	5.37:g.131046325C>T	ENSP00000421985:p.Ala218Thr					FNIP1_ENST00000511848.1_Missense_Mutation_p.A218T|FNIP1_ENST00000307968.7_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.A218T|FNIP1_ENST00000514667.1_Intron	p.A173T					KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	6	545	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.517G>A	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561609	0.96527	.	.	ENSG00000217128	ENST00000307954;ENST00000510461;ENST00000511848	T;T;T	0.24723	2.56;2.57;1.84	5.69	5.69	0.88448	.	.	.	.	.	T	0.41328	0.1154	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.997	D;D;D	0.87578	0.998;0.987;0.924	T	0.04811	-1.0925	9	0.12430	T	0.62	-8.3768	19.8073	0.96535	0.0:1.0:0.0:0.0	.	218;218;218	A8K8V8;Q8TF40-2;Q8TF40	.;.;FNIP1_HUMAN	T	173;218;218	ENSP00000310453:A173T;ENSP00000421985:A218T;ENSP00000425619:A218T	ENSP00000310453:A173T	A	-	1	0	FNIP1	131074224	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.794000	0.85869	2.684000	0.91462	0.655000	0.94253	GCA		0.522	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		3	49	0	0	0	1	0	3	49				
HELLS	3070	broad.mit.edu	37	10	96334429	96334429	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr10:96334429T>C	ENST00000348459.5	+	9	929	c.824T>C	c.(823-825)cTt>cCt	p.L275P	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394044.1_Missense_Mutation_p.L275P|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000371332.4_Missense_Mutation_p.L275P|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.L275P	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GGACCTTTTCTTGTCTGTGGC	0.373																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(823-825)cTt>cCt		helicase, lymphoid-specific							216.0	199.0	205.0					10																	96334429		2203	4300	6503	SO:0001583	missense	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96334429T>C	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.824T>C	10.37:g.96334429T>C	ENSP00000239027:p.Leu275Pro					HELLS_ENST00000394045.1_Missense_Mutation_p.L275P|HELLS_ENST00000394044.1_Missense_Mutation_p.L275P|HELLS_ENST00000371332.4_Missense_Mutation_p.L275P|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR	p.L275P	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	9	929	+		Colorectal(252;0.0429)	275			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000348459.5	37	c.824T>C	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.194740	0.78902	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000394044;ENST00000371332	D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64	5.84	5.84	0.93424	DEAD-like helicase (2);SNF2-related (1);	0.064582	0.64402	D	0.000012	D	0.99321	0.9762	H	0.99042	4.41	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;0.999;1.0	D;D;D;D;D	0.83275	0.994;0.996;0.91;0.993;0.989	D	0.98483	1.0606	10	0.87932	D	0	-25.5498	15.3802	0.74648	0.0:0.0:0.0:1.0	.	259;275;275;275;275	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	P	275	ENSP00000239027:L275P;ENSP00000377609:L275P;ENSP00000377608:L275P;ENSP00000360383:L275P	ENSP00000239027:L275P	L	+	2	0	HELLS	96324419	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	7.828000	0.86729	2.220000	0.72140	0.477000	0.44152	CTT		0.373	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		65	240	0	0	0	1	0	65	240				
DNM1P47	100216544	broad.mit.edu	37	15	102292765	102292765	+	RNA	SNP	C	C	T			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr15:102292765C>T	ENST00000561463.1	+	0	811									DNM1 pseudogene 47																		GGCACAGCGGCGCGACGAGAT	0.602																																						ENST00000561463.1																			0																																																			0							g.chr15:102292765C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292765C>T														0	811	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	80	0	0	0	1	0	5	80				
HTR3A	3359	broad.mit.edu	37	11	113857553	113857553	+	Missense_Mutation	SNP	A	A	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr11:113857553A>C	ENST00000504030.2	+	8	1368	c.923A>C	c.(922-924)tAc>tCc	p.Y308S	HTR3A_ENST00000299961.5_Missense_Mutation_p.Y293S|HTR3A_ENST00000535865.1_Missense_Mutation_p.Y52S|HTR3A_ENST00000375498.2_Missense_Mutation_p.Y314S|HTR3A_ENST00000506841.2_Missense_Mutation_p.Y340S|HTR3A_ENST00000355556.2_Missense_Mutation_p.Y346S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	308					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	ACAGGTGTCTACTTTGTGGTG	0.602																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(922-924)tAc>tCc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						112.0	97.0	102.0					11																	113857553		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857553A>C	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.923A>C	11.37:g.113857553A>C	ENSP00000424189:p.Tyr308Ser					HTR3A_ENST00000355556.2_Missense_Mutation_p.Y346S|HTR3A_ENST00000535865.1_Missense_Mutation_p.Y52S|HTR3A_ENST00000506841.2_Missense_Mutation_p.Y340S|HTR3A_ENST00000299961.5_Missense_Mutation_p.Y293S|HTR3A_ENST00000375498.2_Missense_Mutation_p.Y314S	p.Y308S			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	8	1368	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	308					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.923A>C		.	.	.	.	.	.	.	.	.	.	A	25.0	4.592466	0.86953	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;D;D;D;D;D	0.92446	-3.04;-1.56;-3.04;-1.56;-3.04;-3.04	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.96886	0.8983	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.79784	0.993;0.962;0.993	D	0.97891	1.0297	10	0.87932	D	0	-21.6553	15.4816	0.75530	1.0:0.0:0.0:0.0	.	293;346;314	B4DSY6;G5E986;Q7KZM7	.;.;.	S	308;346;314;340;52;293	ENSP00000424189:Y308S;ENSP00000347754:Y346S;ENSP00000364648:Y314S;ENSP00000424776:Y340S;ENSP00000437776:Y52S;ENSP00000299961:Y293S	ENSP00000299961:Y293S	Y	+	2	0	HTR3A	113362763	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.287000	0.95975	2.110000	0.64415	0.459000	0.35465	TAC		0.602	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		22	156	0	0	0	1	0	22	156				
F2RL3	9002	broad.mit.edu	37	19	17000696	17000696	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:17000696G>A	ENST00000248076.3	+	2	752	c.422G>A	c.(421-423)cGc>cAc	p.R141H	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	141					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGTGGCCAGCGCTGGCCCTTC	0.711																																						ENST00000248076.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(421-423)cGc>cAc		coagulation factor II (thrombin) receptor-like 3							7.0	8.0	7.0					19																	17000696		2110	4106	6216	SO:0001583	missense	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17000696G>A	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.422G>A	19.37:g.17000696G>A	ENSP00000248076:p.Arg141His					F2RL3_ENST00000599210.1_3'UTR	p.R141H	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN			2	752	+			141					O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.422G>A	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	G	8.687	0.906465	0.17833	.	.	ENSG00000127533	ENST00000248076	T	0.72282	-0.64	4.28	-0.465	0.12157	GPCR, rhodopsin-like superfamily (1);	0.390991	0.24242	N	0.040260	T	0.36826	0.0981	N	0.02213	-0.635	0.29815	N	0.831291	B	0.11235	0.004	B	0.11329	0.006	T	0.29701	-1.0003	10	0.15952	T	0.53	.	7.3048	0.26440	0.6227:0.0:0.3773:0.0	.	141	Q96RI0	PAR4_HUMAN	H	141	ENSP00000248076:R141H	ENSP00000248076:R141H	R	+	2	0	F2RL3	16861696	1.000000	0.71417	0.757000	0.31301	0.052000	0.14988	2.011000	0.40922	0.239000	0.21243	-0.362000	0.07510	CGC		0.711	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			17	15	0	0	0	1	0	17	15				
ZNF462	58499	broad.mit.edu	37	9	109691748	109691748	+	Missense_Mutation	SNP	T	T	G			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:109691748T>G	ENST00000277225.5	+	3	5844	c.5555T>G	c.(5554-5556)tTc>tGc	p.F1852C	ZNF462_ENST00000441147.2_Missense_Mutation_p.F697C|ZNF462_ENST00000457913.1_Missense_Mutation_p.F1852C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1852					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATCAAATGCTTCAAGCTGTCC	0.532																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5554-5556)tTc>tGc		zinc finger protein 462							103.0	76.0	85.0					9																	109691748		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691748T>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5555T>G	9.37:g.109691748T>G	ENSP00000277225:p.Phe1852Cys					ZNF462_ENST00000457913.1_Missense_Mutation_p.F1852C|ZNF462_ENST00000441147.2_Missense_Mutation_p.F697C	p.F1852C			Q96JM2	ZN462_HUMAN			3	5844	+			1852					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5555T>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.156700	0.57259	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06068	3.35;3.66;3.8;3.6	5.92	5.92	0.95590	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.07290	-1.0780	10	0.44086	T	0.13	.	16.3634	0.83296	0.0:0.0:0.0:1.0	.	1852;1852	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	C	1852;1852;735;697	ENSP00000277225:F1852C;ENSP00000414570:F1852C;ENSP00000363818:F735C;ENSP00000397306:F697C	ENSP00000277225:F1852C	F	+	2	0	ZNF462	108731569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.703000	0.61824	2.270000	0.75569	0.459000	0.35465	TTC		0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		9	131	0	0	0	1	0	9	131				
CLCN3	1182	broad.mit.edu	37	4	170610267	170610267	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr4:170610267G>A	ENST00000513761.1	+	5	1051	c.492G>A	c.(490-492)gcG>gcA	p.A164A	CLCN3_ENST00000504131.2_Silent_p.A147A|CLCN3_ENST00000360642.3_Silent_p.A164A|CLCN3_ENST00000347613.4_Silent_p.A164A	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	164					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GCCTTAGTGCGTTGTGGTACA	0.438																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(490-492)gcG>gcA		chloride channel, voltage-sensitive 3							173.0	166.0	168.0					4																	170610267		2203	4300	6503	SO:0001819	synonymous_variant	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170610267G>A	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.492G>A	4.37:g.170610267G>A						CLCN3_ENST00000360642.3_Silent_p.A164A|CLCN3_ENST00000504131.2_Silent_p.A147A|CLCN3_ENST00000347613.4_Silent_p.A164A	p.A164A	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	5	1051	+		Prostate(90;0.00601)|Renal(120;0.0183)	164					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Silent	SNP	ENST00000513761.1	37	c.492G>A	CCDS34101.1																																																																																				0.438	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			79	88	0	0	0	1	0	79	88				
MTOR	2475	broad.mit.edu	37	1	11182158	11182158	+	Missense_Mutation	SNP	A	A	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:11182158A>C	ENST00000361445.4	-	48	6764	c.6688T>G	c.(6688-6690)Tta>Gta	p.L2230V	MTOR_ENST00000376838.1_Missense_Mutation_p.L435V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2230	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTGGTCGATAAAGGGATGACA	0.532																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(6688-6690)Tta>Gta		mechanistic target of rapamycin (serine/threonine kinase)							117.0	118.0	117.0					1																	11182158		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11182158A>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6688T>G	1.37:g.11182158A>C	ENSP00000354558:p.Leu2230Val					MTOR_ENST00000376838.1_Missense_Mutation_p.L435V	p.L2230V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			48	6764	-			2230			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.6688T>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320499	0.60634	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	D;D	0.84223	-1.82;-1.82	5.36	1.73	0.24493	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.93759	0.8005	H	0.96748	3.875	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.91930	0.5554	10	0.87932	D	0	-22.7057	8.7127	0.34393	0.6089:0.0:0.3911:0.0	.	2230	P42345	MTOR_HUMAN	V	2230;435	ENSP00000354558:L2230V;ENSP00000366034:L435V	ENSP00000354558:L2230V	L	-	1	2	MTOR	11104745	0.610000	0.26983	0.334000	0.25495	0.735000	0.41995	0.660000	0.25009	0.044000	0.15775	0.528000	0.53228	TTA		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		33	8	0	0	0	1	0	33	8				
MYO7B	4648	broad.mit.edu	37	2	128350379	128350379	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:128350379G>A	ENST00000409816.2	+	16	2035	c.2003G>A	c.(2002-2004)cGg>cAg	p.R668Q	MYO7B_ENST00000428314.1_Missense_Mutation_p.R668Q|MYO7B_ENST00000389524.4_Missense_Mutation_p.R668Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	668	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTGTTCGACCGGGAGCTGTGC	0.687																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2002-2004)cGg>cAg		myosin VIIB							17.0	24.0	21.0					2																	128350379		2025	4169	6194	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128350379G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2003G>A	2.37:g.128350379G>A	ENSP00000386461:p.Arg668Gln					MYO7B_ENST00000409816.2_Missense_Mutation_p.R668Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.R668Q	p.R668Q			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	17	2056	+	Colorectal(110;0.1)		668			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2003G>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260899	0.95368	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87029	-2.2;-2.2;-2.2	4.93	4.93	0.64822	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92407	0.7590	M	0.62154	1.92	0.53005	D	0.999963	D	0.89917	1.0	D	0.97110	1.0	D	0.91862	0.5500	10	0.42905	T	0.14	.	18.494	0.90858	0.0:0.0:1.0:0.0	.	668	Q6PIF6	MYO7B_HUMAN	Q	668	ENSP00000374175:R668Q;ENSP00000415090:R668Q;ENSP00000386461:R668Q	ENSP00000374175:R668Q	R	+	2	0	MYO7B	128066849	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	7.774000	0.85478	2.447000	0.82792	0.655000	0.94253	CGG		0.687	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	30	0	0	0	1	0	3	30				
LHX5	64211	broad.mit.edu	37	12	113906197	113906197	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr12:113906197G>A	ENST00000261731.3	-	3	983	c.410C>T	c.(409-411)aCg>aTg	p.T137M		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	137					cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						ACTGCGGTCCGTACAGGATGA	0.662																																						ENST00000261731.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						c.(409-411)aCg>aTg		LIM homeobox 5							75.0	60.0	65.0					12																	113906197		2203	4300	6503	SO:0001583	missense	64211					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:113906197G>A	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"""Homeoboxes / LIM class"""	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.410C>T	12.37:g.113906197G>A	ENSP00000261731:p.Thr137Met						p.T137M	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN			3	983	-			137					Q32MA4	Missense_Mutation	SNP	ENST00000261731.3	37	c.410C>T	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688253	0.68271	.	.	ENSG00000089116	ENST00000261731	D	0.91407	-2.84	4.85	4.85	0.62838	.	0.000000	0.53938	D	0.000044	D	0.89199	0.6647	L	0.44542	1.39	0.58432	D	0.999991	D	0.61080	0.989	P	0.46339	0.513	D	0.89602	0.3835	10	0.45353	T	0.12	.	17.9696	0.89110	0.0:0.0:1.0:0.0	.	137	Q9H2C1	LHX5_HUMAN	M	137	ENSP00000261731:T137M	ENSP00000261731:T137M	T	-	2	0	LHX5	112390580	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.661000	0.61518	2.213000	0.71641	0.491000	0.48974	ACG		0.662	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363		23	33	0	0	0	1	0	23	33				
CSNK2B	1460	broad.mit.edu	37	6	31636397	31636397	+	Missense_Mutation	SNP	G	G	A	rs372125807		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr6:31636397G>A	ENST00000375882.2	+	4	413	c.257G>A	c.(256-258)cGc>cAc	p.R86H	GPANK1_ENST00000375895.2_5'Flank|GPANK1_ENST00000375906.1_5'Flank|CSNK2B_ENST00000375866.2_Missense_Mutation_p.R86H|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B_ENST00000375885.4_Missense_Mutation_p.R105H|GPANK1_ENST00000375900.4_5'Flank|CSNK2B_ENST00000375865.2_Missense_Mutation_p.R86H|GPANK1_ENST00000375893.2_5'Flank|LY6G5B_ENST00000375864.4_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_Missense_Mutation_p.R86H	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	86					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						ATCCACGCCCGCTACATCCTT	0.552																																						ENST00000375880.2																			0											c.(256-258)cGc>cAc				G	HIS/ARG	0,3022		0,0,1511	160.0	118.0	133.0		257	4.1	1.0	6		133	1,5417		0,1,2708	no	missense	CSNK2B	NM_001320.5	29	0,1,4219	AA,AG,GG		0.0185,0.0,0.0118	probably-damaging	86/216	31636397	1,8439	1511	2709	4220	SO:0001583	missense	0							g.chr6:31636397G>A	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.257G>A	6.37:g.31636397G>A	ENSP00000365042:p.Arg86His					CSNK2B_ENST00000375882.2_Missense_Mutation_p.R86H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.R86H|CSNK2B_ENST00000375885.4_Missense_Mutation_p.R105H|CSNK2B_ENST00000375866.2_Missense_Mutation_p.R86H	p.R86H							4	375	+								B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	c.257G>A	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985435	0.93044	0.0	1.85E-4	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	5.9	4.12	0.48240	Casein kinase II, regulatory subunit, alpha-helical (1);	0.102677	0.64402	D	0.000002	T	0.79730	0.4496	H	0.96398	3.815	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.84904	0.0844	8	0.87932	D	0	-4.0524	10.1162	0.42591	0.075:0.1375:0.7875:0.0	.	86;86	Q5SRQ3;P67870	.;CSK2B_HUMAN	H	105;86;86;86;86	.	ENSP00000365025:R86H	R	+	2	0	CSNK2B	31744376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.233000	0.95337	0.827000	0.34685	0.591000	0.81541	CGC		0.552	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		65	58	0	0	0	1	0	65	58				
SHROOM2	357	broad.mit.edu	37	X	9907313	9907313	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:9907313G>A	ENST00000380913.3	+	8	4308	c.4218G>A	c.(4216-4218)gcG>gcA	p.A1406A	SHROOM2_ENST00000418909.2_Silent_p.A241A	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1406	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCCCAAGGCGGAGCTGCTGA	0.597													G|||	1	0.000264901	0.0	0.0	3775	,	,		14189	0.0		0.0	False		,,,				2504	0.001					ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(4216-4218)gcG>gcA		shroom family member 2							60.0	44.0	49.0					X																	9907313		2203	4300	6503	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9907313G>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4218G>A	X.37:g.9907313G>A						SHROOM2_ENST00000418909.2_Silent_p.A241A	p.A1406A	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			8	4308	+		Hepatocellular(5;0.000888)	1406			ASD2.		B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.4218G>A	CCDS14135.1																																																																																				0.597	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		20	29	0	0	0	1	0	20	29				
PCDHA3	56145	broad.mit.edu	37	5	140180922	140180922	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:140180922G>A	ENST00000522353.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R47H	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R47P(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.657																																						ENST00000522353.2																			2	Substitution - Missense(2)	p.R47P(2)	lung(2)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(139-141)cGc>cAc									53.0	62.0	59.0					5																	140180922		2203	4300	6503	SO:0001583	missense	0							g.chr5:140180922G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.140G>A	5.37:g.140180922G>A	ENSP00000429808:p.Arg47His					PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R47H|PCDHA1_ENST00000504120.2_Intron	p.R47H	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	140	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.140G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	17.00	3.275454	0.59649	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.27256	1.68;1.68	4.48	4.48	0.54585	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.39083	U	0.001467	T	0.35770	0.0943	M	0.64630	1.985	0.32959	D	0.52075	P;P	0.48350	0.885;0.909	B;P	0.46208	0.253;0.507	T	0.56123	-0.8031	10	0.72032	D	0.01	.	17.581	0.87968	0.0:0.0:1.0:0.0	.	47;47	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	H	47	ENSP00000429808:R47H;ENSP00000434086:R47H	ENSP00000429808:R47H	R	+	2	0	PCDHA3	140161106	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.545000	0.23268	2.228000	0.72767	0.586000	0.80456	CGC		0.657	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	282	0	0	0	1	0	5	282				
SCN11A	11280	broad.mit.edu	37	3	38888491	38888491	+	Silent	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:38888491G>A	ENST00000302328.3	-	26	5268	c.5070C>T	c.(5068-5070)acC>acT	p.T1690T	SCN11A_ENST00000456224.3_Silent_p.T1652T|SCN11A_ENST00000450244.1_Silent_p.T1690T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1690					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTACCCTAGCGGTGAAGGCGA	0.453																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(5068-5070)acC>acT		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						116.0	116.0	116.0					3																	38888491		2203	4300	6503	SO:0001819	synonymous_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888491G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.5070C>T	3.37:g.38888491G>A						SCN11A_ENST00000456224.3_Silent_p.T1652T|SCN11A_ENST00000302328.3_Silent_p.T1690T	p.T1690T			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5268	-			1690					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.5070C>T	CCDS33737.1																																																																																				0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		140	142	0	0	0	1	0	140	142				
KCNS2	3788	broad.mit.edu	37	8	99441273	99441273	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr8:99441273G>A	ENST00000287042.4	+	2	1416	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	KCNS2_ENST00000521839.1_Missense_Mutation_p.E356K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	356					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGAGGAGAACGAGGGCCTGGC	0.577																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(1066-1068)Gag>Aag		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							85.0	76.0	79.0					8																	99441273		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441273G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1066G>A	8.37:g.99441273G>A	ENSP00000287042:p.Glu356Lys					KCNS2_ENST00000521839.1_Missense_Mutation_p.E356K	p.E356K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1416	+	Breast(36;2.4e-06)		356					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.1066G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170259	0.38315	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.98455	-4.94;-4.94	6.07	6.07	0.98685	Ion transport (1);	0.158967	0.56097	D	0.000035	D	0.94149	0.8123	N	0.16233	0.39	0.44061	D	0.996803	B	0.27416	0.178	B	0.16722	0.016	D	0.90875	0.4749	10	0.56958	D	0.05	.	10.3149	0.43732	0.0698:0.1361:0.7941:0.0	.	356	Q9ULS6	KCNS2_HUMAN	K	356	ENSP00000287042:E356K;ENSP00000430712:E356K	ENSP00000287042:E356K	E	+	1	0	KCNS2	99510449	1.000000	0.71417	0.979000	0.43373	0.970000	0.65996	8.029000	0.88807	2.884000	0.98904	0.655000	0.94253	GAG		0.577	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		55	83	0	0	0	1	0	55	83				
PDIA5	10954	broad.mit.edu	37	3	122849400	122849400	+	Missense_Mutation	SNP	G	G	A	rs145568670	byFrequency	TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:122849400G>A	ENST00000316218.7	+	11	942	c.847G>A	c.(847-849)Gat>Aat	p.D283N		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	283	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TCACCTGACCGATGAAGACTT	0.587													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20815	0.0		0.0	False		,,,				2504	0.0					ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(847-849)Gat>Aat		protein disulfide isomerase family A, member 5		G	ASN/ASP	4,4402	8.1+/-20.4	0,4,2199	145.0	121.0	129.0		847	5.6	1.0	3	dbSNP_134	129	0,8600		0,0,4300	no	missense	PDIA5	NM_006810.3	23	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	283/520	122849400	4,13002	2203	4300	6503	SO:0001583	missense	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122849400G>A	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.847G>A	3.37:g.122849400G>A	ENSP00000323313:p.Asp283Asn						p.D283N	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	11	942	+			283			Thioredoxin 2.		D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	c.847G>A	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039055	0.93630	9.08E-4	0.0	ENSG00000065485	ENST00000316218	T	0.42513	0.97	5.62	5.62	0.85841	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59752	-0.7395	10	0.36615	T	0.2	.	17.8398	0.88712	0.0:0.0:1.0:0.0	.	283	Q14554	PDIA5_HUMAN	N	283	ENSP00000323313:D283N	ENSP00000323313:D283N	D	+	1	0	PDIA5	124332090	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.801000	0.91905	2.637000	0.89404	0.462000	0.41574	GAT		0.587	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		60	85	0	0	0	1	0	60	85				
ITIH5	80760	broad.mit.edu	37	10	7627946	7627946	+	Silent	SNP	T	T	C	rs541001933		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr10:7627946T>C	ENST00000256861.6	-	8	1104	c.1026A>G	c.(1024-1026)gtA>gtG	p.V342V	ITIH5_ENST00000397145.2_Silent_p.V342V|ITIH5_ENST00000397146.2_Silent_p.V342V|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Silent_p.V124V|ITIH5_ENST00000298441.6_Silent_p.V128V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	342	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGTCCTTCCATACTTTGATCC	0.473													T|||	1	0.000199681	0.0	0.0	5008	,	,		17578	0.0		0.001	False		,,,				2504	0.0					ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1024-1026)gtA>gtG		inter-alpha-trypsin inhibitor heavy chain family, member 5							191.0	155.0	167.0					10																	7627946		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7627946T>C			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1026A>G	10.37:g.7627946T>C						ITIH5_ENST00000397146.2_Silent_p.V342V|ITIH5_ENST00000298441.6_Silent_p.V128V|ITIH5_ENST00000446830.2_Silent_p.V124V|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Silent_p.V342V	p.V342V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			8	1104	-			342			VWFA.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.1026A>G																																																																																					0.473	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		40	59	0	0	0	1	0	40	59				
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs376446977|rs11458983		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGGAACTTTGCTAAAGATCTA	0.386																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109975_145109976insC	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109976_145109976dupC										O75396	SC22B_HUMAN			0	673	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.386	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		3	5						3	5	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196309662	196309662	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:196309662T>C	ENST00000294725.9	-	16	2507	c.1592A>G	c.(1591-1593)aAt>aGt	p.N531S	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.N481S|KCNT2_ENST00000609185.1_Missense_Mutation_p.N481S|KCNT2_ENST00000451324.2_Missense_Mutation_p.N142S|KCNT2_ENST00000367433.5_Missense_Mutation_p.N531S			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	531	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AATGTTTTTATTATCCTCCCT	0.303																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(1591-1593)aAt>aGt		potassium channel, subfamily T, member 2							60.0	60.0	60.0					1																	196309662		2203	4299	6502	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196309662T>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1592A>G	1.37:g.196309662T>C	ENSP00000294725:p.Asn531Ser					KCNT2_ENST00000294725.8_Missense_Mutation_p.N531S|KCNT2_ENST00000451324.2_Missense_Mutation_p.N142S|KCNT2_ENST00000367431.4_Missense_Mutation_p.N481S|KCNT2_ENST00000498426.1_5'UTR	p.N531S			Q6UVM3	KCNT2_HUMAN			16	1693	-			531			RCK N-terminal.		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1592A>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304370	0.40795	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.29655	2.25;2.27;1.56;2.49	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	T	0.23492	0.0568	N	0.22421	0.69	0.44677	D	0.997661	B;B;B;B;B	0.28552	0.215;0.024;0.012;0.024;0.215	B;B;B;B;B	0.29353	0.101;0.037;0.037;0.037;0.101	T	0.06215	-1.0839	10	0.20519	T	0.43	-29.9172	16.4116	0.83717	0.0:0.0:0.0:1.0	.	531;513;531;481;531	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	S	531;481;352;142;531	ENSP00000356403:N531S;ENSP00000356401:N481S;ENSP00000405474:N142S;ENSP00000294725:N531S	ENSP00000294725:N531S	N	-	2	0	KCNT2	194576285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.013000	0.64023	2.276000	0.75962	0.528000	0.53228	AAT		0.303	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		23	138	0	0	0	1	0	23	138				
PSME4	23198	broad.mit.edu	37	2	54167139	54167140	+	Splice_Site	INS	-	-	G			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:54167139_54167140insG	ENST00000404125.1	-	4	556		c.e4-2		PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.?(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAAA	0.347																																						ENST00000404125.1																			1	Unknown(1)	p.?(1)	ovary(1)	breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.e4-2		proteasome (prosome, macropain) activator subunit 4				37,4227		0,37,2095						5.7	1.0			82	25,8229		0,25,4102	no	splice-3	PSME4	NM_014614.2		0,62,6197	A1A1,A1R,RR		0.3029,0.8677,0.4953				62,12456				SO:0001630	splice_region_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54167139_54167140insG	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.501-2->C	2.37:g.54167147_54167147dupG						PSME4_ENST00000421748.2_Intron		NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		4	556	-								Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Splice_Site	INS	ENST00000404125.1	37		CCDS33197.2																																																																																				0.347	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	Intron	9	291						9	291	---	---	---	---
FLJ33360	401172	broad.mit.edu	37	5	6337066	6337067	+	lincRNA	DEL	AC	AC	-	rs371668571		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:6337066_6337067delAC	ENST00000507444.1	-	0	143					NR_028351.1																						acacatacatacacacacacac	0.475																																						ENST00000507444.1																			0																																																			0							g.chr5:6337066_6337067delAC																													5.37:g.6337076_6337077delAC								NR_028351.1						0	143	-									RNA	DEL	ENST00000507444.1	37																																																																																						0.475	CTD-2324F15.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000365707.1			4	9						4	9	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150816	65150817	+	RNA	INS	-	-	C	rs376935907		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr7:65150816_65150817insC	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TTCATCCCTCACCCCCCCCCCC	0.465																																						ENST00000430126.2																			0																																																			0							g.chr7:65150816_65150817insC	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150827_65150827dupC														0	757	+									RNA	INS	ENST00000430126.2	37																																																																																						0.465	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		5	6						5	6	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91630393	91630396	+	Frame_Shift_Del	DEL	AGAC	AGAC	-	rs146864466		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr7:91630393_91630396delAGAC	ENST00000359028.2	+	9	1423_1426	c.1198_1201delAGAC	c.(1198-1203)agacagfs	p.RQ400fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.RQ400fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.RQ388fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	400	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.R400K(1)|p.R388K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			gcaaaaagaaagacagtcttctga	0.328			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)	p.R400K(1)|p.R388K(1)	skin(2)	NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(1198-1203)agfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91630393_91630396delAGAC	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1198_1201delAGAC	7.37:g.91630393_91630396delAGAC	ENSP00000351922:p.Arg400fs					AKAP9_ENST00000358100.2_Frame_Shift_Del_p.RQ400fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.RQ388fs	p.RQ400fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	1423_1426	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		400			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.1198_1201delAGAC																																																																																					0.328	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		15	48						15	48	---	---	---	---
LOC403323	403323	broad.mit.edu	37	9	66545704	66545704	+	lincRNA	DEL	C	C	-	rs12353356|rs200777983	byFrequency	TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:66545704delC	ENST00000445604.2	-	0	669																											GAAAAAAAAACAAAGAAAGAA	0.373																																						ENST00000445604.2																			0																																																			0							g.chr9:66545704delC																													9.37:g.66545704delC														0	669	-									RNA	DEL	ENST00000445604.2	37																																																																																						0.373	RP11-262H14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037074.2			4	7						4	7	---	---	---	---
HNRNPK	3190	broad.mit.edu	37	9	86588288	86588289	+	Frame_Shift_Del	DEL	AA	AA	-	rs574179901	byFrequency	TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:86588288_86588289delAA	ENST00000376264.2	-	9	686_687	c.428_429delTT	c.(427-429)tttfs	p.F143fs	HNRNPK_ENST00000360384.5_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000376281.4_Frame_Shift_Del_p.F143fs|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000376263.3_Frame_Shift_Del_p.F143fs	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	143	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						ACTCGCAGTCAAAGTCACTTCC	0.366																																						ENST00000376263.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						c.(427-429)tfs		heterogeneous nuclear ribonucleoprotein K																																				SO:0001589	frameshift_variant	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86588288_86588289delAA		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.428_429delTT	9.37:g.86588288_86588289delAA	ENSP00000365440:p.Phe143fs					RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376264.2_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000376281.4_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000351839.3_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000360384.5_Frame_Shift_Del_p.F143fs	p.F143fs	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN			9	651_652	-			143			2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|Necessary for interaction with DDX1.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Frame_Shift_Del	DEL	ENST00000376264.2	37	c.428_429delTT	CCDS6667.1																																																																																				0.366	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			26	288						26	288	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139412283	139412285	+	In_Frame_Del	DEL	GTT	GTT	-	rs373152976		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:139412283_139412285delGTT	ENST00000277541.6	-	8	1435_1437	c.1360_1362delAAC	c.(1360-1362)aacdel	p.N454del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	454	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N454delN(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGACGCACTCGTTGACGTCGATC	0.66			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Deletion - In frame(2)	p.N454delN(2)	central_nervous_system(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1360-1362)del		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412283_139412285delGTT	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1360_1362delAAC	9.37:g.139412283_139412285delGTT	ENSP00000277541:p.Asn454del	HNSCC(8;0.001)					p.N454del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1435_1437	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	454			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1360_1362delAAC	CCDS43905.1																																																																																				0.660	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		66	85						66	85	---	---	---	---
ANO8	57719	broad.mit.edu	37	19	17439421	17439422	+	In_Frame_Ins	INS	-	-	TCC			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:17439421_17439422insTCC	ENST00000159087.4	-	13	1933_1934	c.1775_1776insGGA	c.(1774-1776)gac>gaGGAc	p.591_592insE		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	591	Glu-rich.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						cttcctcctcgtcctcctcctc	0.743																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(1774-1776)gga>gGGAga		anoctamin 8																																				SO:0001652	inframe_insertion	57719					chloride channel complex	chloride channel activity	g.chr19:17439421_17439422insTCC	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.1773_1775dupGGA	19.37:g.17439428_17439430dupTCC	ENSP00000159087:p.Glu596_Glu597dup						p.592_593insR	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			13	1933_1934	-			592			Glu-rich.		A6NIJ0	In_Frame_Ins	INS	ENST00000159087.4	37	c.1775_1776insGGA	CCDS32949.1																																																																																				0.743	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		2	4						2	4	---	---	---	---
USP25	29761	broad.mit.edu	37	21	17203875	17203876	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr21:17203875_17203876delTT	ENST00000285679.6	+	16	2289_2290	c.1920_1921delTT	c.(1918-1923)tcttttfs	p.F641fs	USP25_ENST00000400183.2_Frame_Shift_Del_p.F641fs|USP25_ENST00000285681.2_Frame_Shift_Del_p.F641fs|USP25_ENST00000351097.5_Intron	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	641	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TGAGGGACTCTTTTGGTGGTTA	0.366																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(1918-1923)tcttfs		ubiquitin specific peptidase 25																																				SO:0001589	frameshift_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17203875_17203876delTT	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1920_1921delTT	21.37:g.17203877_17203878delTT	ENSP00000285679:p.Phe641fs					USP25_ENST00000285679.6_Frame_Shift_Del_p.SF640fs|USP25_ENST00000400183.2_Frame_Shift_Del_p.SF640fs|USP25_ENST00000351097.5_Intron	p.SF640fs			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	16	2289_2290	+			640					C0LSZ0|Q6DHZ9|Q9H9W1	Frame_Shift_Del	DEL	ENST00000285679.6	37	c.1920_1921delTT	CCDS33515.1																																																																																				0.366	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			72	139						72	139	---	---	---	---
GAGE2A	729447	broad.mit.edu	37	X	49355814	49355816	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:49355814_49355816delTGA	ENST00000362097.1	+	3	179_181	c.96_98delTGA	c.(94-99)agtgat>agt	p.D33del		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	33										endometrium(4)	4	Ovarian(276;0.236)					AGCAGTTCAGTGATGAAGTGGAA	0.453																																						ENST00000362097.1																			0				endometrium(4)	4						c.(94-99)agt>ag		G antigen 2A																																				SO:0001651	inframe_deletion	729447							g.chrX:49355814_49355816delTGA	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"""cancer/testis antigen family 4, member 2"""	300720	"""G antigen 2"""	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.96_98delTGA	X.37:g.49355817_49355819delTGA	ENSP00000355421:p.Asp33del						p.SD32del	NM_001127212.1	NP_001120684.1					3	179_181	+	Ovarian(276;0.236)								In_Frame_Del	DEL	ENST00000362097.1	37	c.96_98delTGA	CCDS48114.1																																																																																				0.453	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			15	1285						15	1285	---	---	---	---
