#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
USH2A	7399	broad.mit.edu	37	1	215808006	215808006	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:215808006C>T	ENST00000307340.3	-	70	15478	c.15092G>A	c.(15091-15093)cGg>cAg	p.R5031Q	USH2A_ENST00000366943.2_Missense_Mutation_p.R5031Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5031			R -> W (in dbSNP:rs56038610). {ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTTTTGCTCCGCGATCCCTT	0.448										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(15091-15093)cGg>cAg		Usher syndrome 2A (autosomal recessive, mild)							115.0	109.0	111.0					1																	215808006		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215808006C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15092G>A	1.37:g.215808006C>T	ENSP00000305941:p.Arg5031Gln	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R5031Q	p.R5031Q			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	70	15478	-			5031		R -> W.			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.15092G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	1.787	-0.480373	0.04383	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12147	2.71;2.71	5.82	2.87	0.33458	.	0.495526	0.16770	N	0.200241	T	0.09069	0.0224	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43669	-0.9377	10	0.11794	T	0.64	.	6.3204	0.21215	0.0:0.5532:0.1289:0.3178	.	5031	O75445	USH2A_HUMAN	Q	5031	ENSP00000305941:R5031Q;ENSP00000355910:R5031Q	ENSP00000305941:R5031Q	R	-	2	0	USH2A	213874629	0.005000	0.15991	0.000000	0.03702	0.121000	0.20230	0.426000	0.21363	0.088000	0.17205	-0.797000	0.03246	CGG		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		32	60	0	0	0	1	0	32	60				
THOP1	7064	broad.mit.edu	37	19	2808387	2808387	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:2808387A>G	ENST00000307741.6	+	9	1603	c.1400A>G	c.(1399-1401)gAg>gGg	p.E467G	THOP1_ENST00000395212.4_5'Flank|THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000586677.1_Missense_Mutation_p.E346G	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	467					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCATGACGAGGTGGAGACC	0.692																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(1399-1401)gAg>gGg		thimet oligopeptidase 1							38.0	27.0	31.0					19																	2808387		2198	4297	6495	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2808387A>G		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1400A>G	19.37:g.2808387A>G	ENSP00000304467:p.Glu467Gly					THOP1_ENST00000586677.1_Missense_Mutation_p.E346G|THOP1_ENST00000591149.1_3'UTR	p.E467G	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1603	+			467					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.1400A>G	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	a	26.6	4.754968	0.89843	.	.	ENSG00000172009	ENST00000307741	T	0.08984	3.03	4.48	4.48	0.54585	Metallopeptidase, catalytic domain (1);	0.103024	0.64402	D	0.000005	T	0.38295	0.1035	H	0.98542	4.26	0.80722	D	1	P;P	0.50617	0.937;0.937	P;P	0.54965	0.765;0.765	T	0.60571	-0.7237	10	0.87932	D	0	-45.6324	12.7833	0.57489	1.0:0.0:0.0:0.0	.	346;467	B4DU96;P52888	.;THOP1_HUMAN	G	467	ENSP00000304467:E467G	ENSP00000304467:E467G	E	+	2	0	THOP1	2759387	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.464000	0.90380	1.886000	0.54624	0.525000	0.51046	GAG		0.692	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			9	17	0	0	0	1	0	9	17				
ATP11C	286410	broad.mit.edu	37	X	138864753	138864753	+	Silent	SNP	A	A	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:138864753A>G	ENST00000327569.3	-	18	2012	c.1914T>C	c.(1912-1914)gaT>gaC	p.D638D	ATP11C_ENST00000370543.1_Silent_p.D638D|ATP11C_ENST00000359686.2_Silent_p.D638D|ATP11C_ENST00000361648.2_Silent_p.D638D|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Silent_p.D635D	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	638					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTGTCTCAATATCATCGAAAA	0.333																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(1903-1905)gaT>gaC		ATPase, class VI, type 11C							132.0	104.0	114.0					X																	138864753		2203	4300	6503	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138864753A>G	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1914T>C	X.37:g.138864753A>G						ATP11C_ENST00000327569.3_Silent_p.D638D|ATP11C_ENST00000359686.2_Silent_p.D638D|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Silent_p.D638D|ATP11C_ENST00000361648.2_Silent_p.D638D	p.D635D			Q8NB49	AT11C_HUMAN			18	2932	-	Acute lymphoblastic leukemia(192;0.000127)		638					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.1905T>C	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	A	9.053	0.992632	0.18966	.	.	ENSG00000101974	ENST00000422228	.	.	.	5.68	-6.18	0.02085	.	.	.	.	.	T	0.35278	0.0926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42732	-0.9434	4	.	.	.	.	1.1854	0.01854	0.2163:0.3362:0.2415:0.2061	.	.	.	.	T	190	.	.	I	-	2	0	ATP11C	138692419	0.835000	0.29415	0.972000	0.41901	0.930000	0.56654	-0.108000	0.10857	-0.750000	0.04740	-0.415000	0.06103	ATA		0.333	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		33	33	0	0	0	1	0	33	33				
TNFSF14	8740	broad.mit.edu	37	19	6664984	6664984	+	Nonsense_Mutation	SNP	G	G	A	rs371136658		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:6664984G>A	ENST00000599359.1	-	5	1057	c.676C>T	c.(676-678)Cga>Tga	p.R226*	TNFSF14_ENST00000245912.3_Nonsense_Mutation_p.R190*|TNFSF14_ENST00000326176.9_Nonsense_Mutation_p.R190*			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	226					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TCACGCAGTCGAACCAGGCGT	0.602																																						ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(568-570)Cga>Tga		tumor necrosis factor (ligand) superfamily, member 14							192.0	158.0	170.0					19																	6664984		2203	4300	6503	SO:0001587	stop_gained	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6664984G>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.676C>T	19.37:g.6664984G>A	ENSP00000469049:p.Arg226*					TNFSF14_ENST00000599359.1_Nonsense_Mutation_p.R226*|TNFSF14_ENST00000245912.3_Nonsense_Mutation_p.R190*	p.R190*	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			5	949	-			226					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Nonsense_Mutation	SNP	ENST00000599359.1	37	c.568C>T	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413213	0.83449	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	.	.	.	4.46	2.13	0.27403	.	0.500940	0.17136	N	0.185647	.	.	.	.	.	.	0.49299	D	0.999773	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-1.0767	12.245	0.54566	0.0:0.0:0.64:0.36	.	.	.	.	X	226;190	.	ENSP00000245912:R226X	R	-	1	2	TNFSF14	6615984	0.005000	0.15991	0.005000	0.12908	0.041000	0.13682	0.362000	0.20284	0.807000	0.34208	0.561000	0.74099	CGA		0.602	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			56	133	0	0	0	1	0	56	133				
SMARCA4	6597	broad.mit.edu	37	19	11170533	11170533	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:11170533G>A	ENST00000429416.3	+	34	5021	c.4740G>A	c.(4738-4740)gaG>gaA	p.E1580E	SMARCA4_ENST00000344626.4_Silent_p.E1580E|SMARCA4_ENST00000358026.2_Silent_p.E1612E|SMARCA4_ENST00000444061.3_Silent_p.E1546E|SMARCA4_ENST00000413806.3_Silent_p.E1550E|SMARCA4_ENST00000541122.2_Silent_p.E1550E|SMARCA4_ENST00000590574.1_Silent_p.E1547E|SMARCA4_ENST00000589677.1_Silent_p.E1549E|SMARCA4_ENST00000450717.3_Silent_p.E1549E	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1580	Poly-Glu.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				aggaggaagagggcgaggagg	0.612			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(4834-4836)gaG>gaA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							48.0	44.0	46.0					19																	11170533		2203	4300	6503	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11170533G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4740G>A	19.37:g.11170533G>A						SMARCA4_ENST00000429416.3_Silent_p.E1580E|SMARCA4_ENST00000444061.3_Silent_p.E1546E|SMARCA4_ENST00000541122.2_Silent_p.E1550E|SMARCA4_ENST00000450717.3_Silent_p.E1549E|SMARCA4_ENST00000590574.1_Silent_p.E1547E|SMARCA4_ENST00000413806.3_Silent_p.E1550E|SMARCA4_ENST00000344626.4_Silent_p.E1580E|SMARCA4_ENST00000589677.1_Silent_p.E1549E	p.E1612E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			34	5120	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1580					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.4836G>A	CCDS12253.1																																																																																				0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		8	28	0	0	0	1	0	8	28				
NPC1L1	29881	broad.mit.edu	37	7	44560403	44560403	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:44560403T>C	ENST00000289547.4	-	14	3152	c.3097A>G	c.(3097-3099)Agc>Ggc	p.S1033G	NPC1L1_ENST00000546276.1_Missense_Mutation_p.S987G|NPC1L1_ENST00000381160.3_Missense_Mutation_p.S1033G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1033					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACAGAGGTGCTGTATGCTGCC	0.582																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(3097-3099)Agc>Ggc		NPC1-like 1	Ezetimibe(DB00973)						85.0	78.0	81.0					7																	44560403		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44560403T>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3097A>G	7.37:g.44560403T>C	ENSP00000289547:p.Ser1033Gly					NPC1L1_ENST00000546276.1_Missense_Mutation_p.S987G|NPC1L1_ENST00000381160.3_Missense_Mutation_p.S1033G	p.S1033G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			14	3152	-			1033					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.3097A>G	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	T	0.122	-1.124917	0.01770	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93426	-3.12;-3.13;-3.22	4.77	2.41	0.29592	.	0.179090	0.44688	D	0.000439	T	0.82157	0.4976	N	0.12422	0.21	0.23632	N	0.997241	B;B;B;B	0.09022	0.002;0.0;0.0;0.001	B;B;B;B	0.10450	0.005;0.002;0.001;0.002	T	0.66791	-0.5834	10	0.18710	T	0.47	-21.5635	4.8936	0.13738	0.0:0.4012:0.0:0.5988	.	987;1033;1033;1033	B7ZLE6;Q17RV5;D3DVK9;Q9UHC9	.;.;.;NPCL1_HUMAN	G	1033;1033;987	ENSP00000289547:S1033G;ENSP00000370552:S1033G;ENSP00000438033:S987G	ENSP00000289547:S1033G	S	-	1	0	NPC1L1	44526928	0.769000	0.28531	0.974000	0.42286	0.530000	0.34684	0.579000	0.23788	0.651000	0.30788	0.379000	0.24179	AGC		0.582	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		32	69	0	0	0	1	0	32	69				
CADPS	8618	broad.mit.edu	37	3	62463981	62463981	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr3:62463981C>T	ENST00000383710.4	-	23	3633	c.3284G>A	c.(3283-3285)cGg>cAg	p.R1095Q	CADPS_ENST00000357948.3_Missense_Mutation_p.R1016Q|CADPS_ENST00000283269.9_Missense_Mutation_p.R1056Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1095	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAACTTCAGCCGTTGTTCCAG	0.502																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(3283-3285)cGg>cAg		Ca++-dependent secretion activator							230.0	203.0	212.0					3																	62463981		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62463981C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3284G>A	3.37:g.62463981C>T	ENSP00000373215:p.Arg1095Gln					CADPS_ENST00000283269.9_Missense_Mutation_p.R1056Q|CADPS_ENST00000357948.3_Missense_Mutation_p.R1016Q	p.R1095Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	23	3633	-		Lung SC(41;0.0452)	1095			Interaction with DRD2.|MHD1.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3284G>A	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.059141|6.059141	0.97246|0.97246	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000473635|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.30981	.|1.51;1.51;1.51	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Munc13 homology 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62036|0.62036	0.2395|0.2395	M|M	0.81942|0.81942	2.565|2.565	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;0.999;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.975;0.978;1.0	T|T	0.63189|0.63189	-0.6693|-0.6693	5|10	.|0.87932	.|D	.|0	.|.	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1016;1056;1095;1095	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	S|Q	82|1095;1095;1016;1056	.|ENSP00000373215:R1095Q;ENSP00000350632:R1016Q;ENSP00000283269:R1056Q	.|ENSP00000283269:R1056Q	G|R	-|-	1|2	0|0	CADPS|CADPS	62439021|62439021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.502	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		14	78	0	0	0	1	0	14	78				
COL2A1	1280	broad.mit.edu	37	12	48377906	48377906	+	Silent	SNP	A	A	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:48377906A>G	ENST00000380518.3	-	29	2069	c.1905T>C	c.(1903-1905)gaT>gaC	p.D635D	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.D566D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	635	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTGTCTCACCATCTTTGCCAG	0.592																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(1903-1905)gaT>gaC		collagen, type II, alpha 1	Collagenase(DB00048)						44.0	37.0	39.0					12																	48377906		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48377906A>G	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1905T>C	12.37:g.48377906A>G						COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.D566D	p.D635D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			29	2069	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	635			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.1905T>C	CCDS41778.1																																																																																				0.592	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		7	9	0	0	0	1	0	7	9				
MKI67	4288	broad.mit.edu	37	10	129921413	129921413	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr10:129921413C>T	ENST00000368654.3	-	3	488	c.113G>A	c.(112-114)cGt>cAt	p.R38H	MKI67_ENST00000368653.3_Missense_Mutation_p.R38H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	38	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AAGCTGGATACGGATGTCACA	0.348																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(112-114)cGt>cAt		marker of proliferation Ki-67							94.0	90.0	91.0					10																	129921413		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129921413C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.113G>A	10.37:g.129921413C>T	ENSP00000357643:p.Arg38His					MKI67_ENST00000368653.3_Missense_Mutation_p.R38H	p.R38H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			3	488	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	38			FHA.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.113G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419141	0.83559	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	D;D	0.86865	-2.18;-2.18	4.5	4.5	0.54988	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.071776	0.56097	D	0.000031	D	0.92090	0.7493	M	0.69185	2.1	0.40896	D	0.984112	D;D	0.89917	1.0;0.995	D;D	0.87578	0.998;0.96	D	0.92191	0.5759	9	.	.	.	.	15.1651	0.72818	0.0:1.0:0.0:0.0	.	38;38	P46013-2;P46013	.;KI67_HUMAN	H	38	ENSP00000357643:R38H;ENSP00000357642:R38H	.	R	-	2	0	MKI67	129811403	1.000000	0.71417	0.959000	0.39883	0.778000	0.44026	5.175000	0.65021	2.354000	0.79902	0.585000	0.79938	CGT		0.348	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		20	6	0	0	0	1	0	20	6				
STAG2	10735	broad.mit.edu	37	X	123227873	123227873	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:123227873G>A	ENST00000371160.1	+	32	3763	c.3473G>A	c.(3472-3474)cGt>cAt	p.R1158H	STAG2_ENST00000354548.5_Missense_Mutation_p.R1089H|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.R1158H|STAG2_ENST00000218089.9_Missense_Mutation_p.R1195H|STAG2_ENST00000371145.3_Missense_Mutation_p.R1195H|STAG2_ENST00000371144.3_Missense_Mutation_p.R1158H	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1158					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TCTAGTCGGCGTGGCACAAGC	0.388																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(3472-3474)cGt>cAt		stromal antigen 2							169.0	142.0	151.0					X																	123227873		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123227873G>A	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3473G>A	X.37:g.123227873G>A	ENSP00000360202:p.Arg1158His					STAG2_ENST00000354548.5_Missense_Mutation_p.R1089H|STAG2_ENST00000218089.9_Missense_Mutation_p.R1195H|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.R1158H|STAG2_ENST00000371144.3_Missense_Mutation_p.R1158H|STAG2_ENST00000371145.3_Missense_Mutation_p.R1195H	p.R1158H			Q8N3U4	STAG2_HUMAN			32	3763	+			1158					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.3473G>A	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844906	0.91197	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.38722	1.57;1.18;1.12;1.12;1.57;1.12	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.83275	0.996;0.891	T	0.59736	-0.7398	10	0.72032	D	0.01	-7.4976	17.5768	0.87952	0.0:0.0:1.0:0.0	.	1195;1158	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	H	1195;1089;1158;1158;1195;1158	ENSP00000218089:R1195H;ENSP00000346555:R1089H;ENSP00000360202:R1158H;ENSP00000360199:R1158H;ENSP00000360187:R1195H;ENSP00000360186:R1158H	ENSP00000218089:R1195H	R	+	2	0	STAG2	123055554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.166000	0.68216	0.544000	0.68410	CGT		0.388	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		33	60	0	0	0	1	0	33	60				
MYH1	4619	broad.mit.edu	37	17	10404812	10404812	+	Missense_Mutation	SNP	C	C	T	rs377745179		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:10404812C>T	ENST00000226207.5	-	27	3447	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1118					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCCTCAATGCGGGCCTGGGA	0.502																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3352-3354)cGc>cAc		myosin, heavy chain 1, skeletal muscle, adult							38.0	40.0	39.0					17																	10404812		2203	4298	6501	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404812C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3353G>A	17.37:g.10404812C>T	ENSP00000226207:p.Arg1118His					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1118H	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			27	3447	-			1118					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3353G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879188	0.91740	.	.	ENSG00000109061	ENST00000226207	D	0.83837	-1.77	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.44097	U	0.000488	D	0.92919	0.7747	M	0.90650	3.135	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.93648	0.6970	10	0.72032	D	0.01	.	19.7865	0.96442	0.0:1.0:0.0:0.0	.	1118	P12882	MYH1_HUMAN	H	1118	ENSP00000226207:R1118H	ENSP00000226207:R1118H	R	-	2	0	MYH1	10345537	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.895000	0.63214	2.751000	0.94390	0.650000	0.86243	CGC		0.502	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		18	31	0	0	0	1	0	18	31				
MAGEA10	4109	broad.mit.edu	37	X	151304073	151304073	+	Missense_Mutation	SNP	C	C	T	rs145553450	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:151304073C>T	ENST00000370323.4	-	4	336	c.20G>A	c.(19-21)cGt>cAt	p.R7H	MAGEA10_ENST00000244096.3_Missense_Mutation_p.R7H|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	7						nucleus (GO:0005634)		p.R7H(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCGCTGACGCTTTGGAGC	0.602																																						ENST00000370323.4																			1	Substitution - Missense(1)	p.R7H(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(19-21)cGt>cAt		melanoma antigen family A, 10		C	HIS/ARG,,HIS/ARG	0,3833		0,0,0,1631,571	86.0	88.0	87.0		20,,20	0.6	0.0	X	dbSNP_134	87	1,6725		0,0,1,2428,1869	no	missense,intron,missense	MAGEA10,MAGEA10-MAGEA5	NM_001011543.1,NM_001204811.1,NM_021048.3	29,,29	0,0,1,4059,2440	TT,TC,T,CC,C		0.0149,0.0,0.0095	probably-damaging,,probably-damaging	7/370,,7/370	151304073	1,10558	2202	4298	6500	SO:0001583	missense	4109							g.chrX:151304073C>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.20G>A	X.37:g.151304073C>T	ENSP00000359347:p.Arg7His					MAGEA10_ENST00000244096.3_Missense_Mutation_p.R7H|RP11-1007I13.4_ENST00000509345.2_RNA	p.R7H	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	336	-	Acute lymphoblastic leukemia(192;6.56e-05)		7						Missense_Mutation	SNP	ENST00000370323.4	37	c.20G>A	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	8.597	0.885841	0.17540	0.0	1.49E-4	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.04502	3.61;3.61;3.61;3.61	2.54	0.552	0.17230	Melanoma associated antigen, MAGE, N-terminal (1);	4.932270	0.00531	N	0.000218	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.33748	0.423	B	0.26517	0.07	T	0.32161	-0.9917	10	0.56958	D	0.05	.	4.3557	0.11178	0.2587:0.4915:0.2498:0.0	.	7	P43363	MAGAA_HUMAN	H	7	ENSP00000359347:R7H;ENSP00000244096:R7H;ENSP00000406161:R7H;ENSP00000391977:R7H	ENSP00000244096:R7H	R	-	2	0	MAGEA10	151054729	0.000000	0.05858	0.000000	0.03702	0.330000	0.28571	0.488000	0.22371	0.035000	0.15519	0.292000	0.19580	CGT		0.602	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		39	50	0	0	0	1	0	39	50				
SLC9A3	6550	broad.mit.edu	37	5	488443	488443	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:488443G>A	ENST00000264938.3	-	3	672	c.663C>T	c.(661-663)gaC>gaT	p.D221D	SLC9A3_ENST00000514375.1_Silent_p.D221D	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	221					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGGTGACTGCGTCGTTCAGCA	0.662																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(661-663)gaC>gaT		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							63.0	58.0	59.0					5																	488443		2202	4300	6502	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:488443G>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.663C>T	5.37:g.488443G>A						SLC9A3_ENST00000514375.1_Silent_p.D221D	p.D221D	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		3	672	-			221					B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.663C>T	CCDS3855.1																																																																																				0.662	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		13	57	0	0	0	1	0	13	57				
SEMG1	6406	broad.mit.edu	37	20	43836216	43836216	+	Missense_Mutation	SNP	C	C	T	rs199781597		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr20:43836216C>T	ENST00000372781.3	+	2	335	c.278C>T	c.(277-279)aCg>aTg	p.T93M	SEMG1_ENST00000244069.6_Missense_Mutation_p.T93M	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	93	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTACATAAGACGACAAAATCA	0.378																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(277-279)aCg>aTg		semenogelin I		C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	154.0	134.0	141.0		278	-0.2	0.0	20		141	0,8600		0,0,4300	yes	missense	SEMG1	NM_003007.3	81	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		93/463	43836216	2,13004	2203	4300	6503	SO:0001583	missense	6406							g.chr20:43836216C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.278C>T	20.37:g.43836216C>T	ENSP00000361867:p.Thr93Met					SEMG1_ENST00000244069.6_Missense_Mutation_p.T93M	p.T93M	NM_003007.3	NP_002998.1					2	335	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.278C>T	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	C	0.769	-0.766462	0.02974	4.54E-4	0.0	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.08984	3.03;3.03	1.07	-0.159	0.13379	.	.	.	.	.	T	0.12860	0.0312	L	0.36672	1.1	0.09310	N	1	B;D;P	0.89917	0.421;1.0;0.537	B;D;B	0.73708	0.05;0.981;0.113	T	0.25363	-1.0134	9	0.26408	T	0.33	.	2.9559	0.05876	0.0:0.3585:0.0:0.6415	.	93;93;93	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	M	93	ENSP00000244069:T93M;ENSP00000361867:T93M	ENSP00000244069:T93M	T	+	2	0	SEMG1	43269630	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.915000	0.04033	-0.080000	0.12685	-0.484000	0.04775	ACG		0.378	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		18	76	0	0	0	1	0	18	76				
TRAV13-1	28671	broad.mit.edu	37	14	22337418	22337418	+	RNA	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr14:22337418G>A	ENST00000390436.2	+	0	232									T cell receptor alpha variable 13-1																		ATAGACATTCGTTCAAATGTG	0.423																																						ENST00000390436.2																			0																				191.0	190.0	190.0					14																	22337418		1908	4139	6047			0							g.chr14:22337418G>A	AE000659		14q11.2	2012-02-07			ENSG00000211788	ENSG00000211788		"""T cell receptors / TRA locus"""	12108	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168993		14.37:g.22337418G>A														0	232	+									RNA	SNP	ENST00000390436.2	37																																																																																						0.423	TRAV13-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401891.1	NG_001332		42	53	0	0	0	1	0	42	53				
NPTX1	4884	broad.mit.edu	37	17	78447110	78447110	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:78447110C>T	ENST00000306773.4	-	3	944	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	263	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTGGCGTGGCGCTGGACTTG	0.587																																						ENST00000306773.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(787-789)Gcc>Acc		neuronal pentraxin I							201.0	173.0	183.0					17																	78447110		2203	4300	6503	SO:0001583	missense	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78447110C>T	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.787G>A	17.37:g.78447110C>T	ENSP00000307549:p.Ala263Thr						p.A263T	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		3	944	-	all_neural(118;0.0538)		263			Pentaxin.		B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	c.787G>A	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046740	0.55110	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.06449	3.3	4.27	3.3	0.37823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	L	0.48986	1.54	0.80722	D	1	P	0.49447	0.924	B	0.41374	0.355	T	0.44847	-0.9301	10	0.17369	T	0.5	-21.6173	11.8502	0.52407	0.0:0.9132:0.0:0.0868	.	263	Q15818	NPTX1_HUMAN	T	263;25	ENSP00000307549:A263T	ENSP00000307549:A263T	A	-	1	0	NPTX1	76061705	1.000000	0.71417	0.671000	0.29857	0.545000	0.35147	5.703000	0.68340	1.001000	0.39076	0.511000	0.50034	GCC		0.587	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			24	116	0	0	0	1	0	24	116				
GRM8	2918	broad.mit.edu	37	7	126409978	126409978	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:126409978C>T	ENST00000339582.2	-	7	2106	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	GRM8_ENST00000405249.1_Missense_Mutation_p.R433Q|GRM8_ENST00000444921.2_Missense_Mutation_p.R433Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R433Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	433					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GGTACTCATTCGTGGACAAAG	0.403										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1297-1299)cGa>cAa		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						142.0	129.0	134.0					7																	126409978		2203	4299	6502	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126409978C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1298G>A	7.37:g.126409978C>T	ENSP00000344173:p.Arg433Gln	HNSCC(24;0.065)				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R433Q|GRM8_ENST00000405249.1_Missense_Mutation_p.R433Q|GRM8_ENST00000444921.2_Missense_Mutation_p.R433Q	p.R433Q			O00222	GRM8_HUMAN			7	2106	-		Prostate(267;0.186)	433					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1298G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848477	0.51164	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	N	0.12471	0.22	0.50632	D	0.999884	B;B;B	0.20550	0.046;0.024;0.013	B;B;B	0.22601	0.04;0.004;0.028	T	0.72047	-0.4408	10	0.21540	T	0.41	.	18.9751	0.92733	0.0:1.0:0.0:0.0	.	433;433;433	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	Q	433	ENSP00000344173:R433Q;ENSP00000409790:R433Q;ENSP00000351142:R433Q;ENSP00000385731:R433Q	ENSP00000344173:R433Q	R	-	2	0	GRM8	126197214	0.157000	0.22836	1.000000	0.80357	0.995000	0.86356	2.604000	0.46274	2.708000	0.92522	0.650000	0.86243	CGA		0.403	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			50	89	0	0	0	1	0	50	89				
MS4A6A	64231	broad.mit.edu	37	11	59949075	59949075	+	Silent	SNP	G	G	A	rs113133013	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:59949075G>A	ENST00000530839.1	-	3	618	c.126C>T	c.(124-126)caC>caT	p.H42H	MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000323961.3_Silent_p.H42H|MS4A6A_ENST00000420732.2_Silent_p.H42H|MS4A6A_ENST00000412309.2_Silent_p.H70H|MS4A6A_ENST00000533023.1_Silent_p.H42H|MS4A6A_ENST00000528851.1_Silent_p.H42H|MS4A6A_ENST00000426738.2_Silent_p.H42H|MS4A6A_ENST00000529054.1_Silent_p.H70H|MS4A6A_ENST00000532169.1_Silent_p.H42H	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	42						integral component of membrane (GO:0016021)		p.H42H(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGATTTCTGCGTGTAGATGTT	0.468													G|||	2	0.000399361	0.0015	0.0	5008	,	,		3887	0.0		0.0	False		,,,				2504	0.0					ENST00000528851.1																			1	Substitution - coding silent(1)	p.H42H(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(124-126)caC>caT		membrane-spanning 4-domains, subfamily A, member 6A							185.0	172.0	177.0					11																	59949075		2201	4295	6496	SO:0001819	synonymous_variant	64231					integral to membrane	receptor activity	g.chr11:59949075G>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.126C>T	11.37:g.59949075G>A						MS4A6A_ENST00000323961.3_Silent_p.H42H|MS4A6A_ENST00000532169.1_Silent_p.H42H|MS4A6A_ENST00000420732.2_Silent_p.H42H|MS4A6A_ENST00000412309.2_Silent_p.H70H|MS4A6A_ENST00000529054.1_Silent_p.H70H|MS4A6A_ENST00000530839.1_Silent_p.H42H|MS4A6A_ENST00000426738.2_Silent_p.H42H|MS4A6A_ENST00000533023.1_Silent_p.H42H	p.H42H			Q9H2W1	M4A6A_HUMAN			2	266	-			42					A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Silent	SNP	ENST00000530839.1	37	c.126C>T	CCDS7981.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	3.044	-0.196825	0.06259	.	.	ENSG00000110077	ENST00000533989	.	.	.	4.72	-0.287	0.12858	.	.	.	.	.	T	0.28962	0.0719	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27331	-1.0077	4	.	.	.	.	5.8555	0.18716	0.0:0.5893:0.1483:0.2625	.	.	.	.	M	22	.	.	T	-	2	0	MS4A6A	59705651	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.295000	0.08298	-0.222000	0.09958	-0.724000	0.03597	ACG		0.468	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			21	58	0	0	0	1	0	21	58				
ABCC1	4363	broad.mit.edu	37	16	16150051	16150051	+	Missense_Mutation	SNP	G	G	C	rs72547522		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr16:16150051G>C	ENST00000399410.3	+	12	1751	c.1576G>C	c.(1576-1578)Gac>Cac	p.D526H	ABCC1_ENST00000399408.2_Missense_Mutation_p.D526H|ABCC1_ENST00000345148.5_Missense_Mutation_p.D526H|ABCC1_ENST00000346370.5_Missense_Mutation_p.D526H|ABCC1_ENST00000351154.5_Missense_Mutation_p.D526H|ABCC1_ENST00000349029.5_Missense_Mutation_p.D526H	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	526	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGCATTCAAGGACAAGGTGCT	0.532																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(1576-1578)Gac>Cac		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						89.0	93.0	92.0					16																	16150051		2066	4205	6271	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16150051G>C	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1576G>C	16.37:g.16150051G>C	ENSP00000382342:p.Asp526His					ABCC1_ENST00000346370.5_Missense_Mutation_p.D526H|ABCC1_ENST00000399410.3_Missense_Mutation_p.D526H|ABCC1_ENST00000345148.5_Missense_Mutation_p.D526H|ABCC1_ENST00000349029.5_Missense_Mutation_p.D526H|ABCC1_ENST00000351154.5_Missense_Mutation_p.D526H	p.D526H			P33527	MRP1_HUMAN			12	1751	+			526			ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.1576G>C	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993345	0.74703	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	5.29	3.31	0.37934	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.397843	0.31061	N	0.008332	D	0.89876	0.6842	L	0.47078	1.49	0.38732	D	0.953699	P;B;P;P;P;B;P	0.47409	0.731;0.429;0.488;0.813;0.895;0.284;0.534	B;B;P;P;P;P;P	0.52267	0.256;0.256;0.521;0.694;0.652;0.629;0.495	D	0.90260	0.4300	10	0.66056	D	0.02	-17.3801	9.6635	0.39969	0.0772:0.1433:0.7795:0.0	.	526;526;526;526;526;526;526	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	H	526;526;526;526;526;526;200	ENSP00000382342:D526H;ENSP00000382340:D526H;ENSP00000263019:D526H;ENSP00000263017:D526H;ENSP00000263014:D526H;ENSP00000263016:D526H	ENSP00000263014:D526H	D	+	1	0	ABCC1	16057552	1.000000	0.71417	0.938000	0.37757	0.951000	0.60555	7.603000	0.82811	1.205000	0.43262	0.462000	0.41574	GAC		0.532	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		22	30	0	0	0	1	0	22	30				
FLG	2312	broad.mit.edu	37	1	152281402	152281402	+	Missense_Mutation	SNP	C	C	T	rs150720370		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:152281402C>T	ENST00000368799.1	-	3	5995	c.5960G>A	c.(5959-5961)cGt>cAt	p.R1987H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1987	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R1987H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCTGTCCACGAGAGGAAGA	0.572									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.R1987H(1)	prostate(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5959-5961)cGt>cAt		filaggrin		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	565.0	449.0	488.0		5960	-3.3	0.0	1	dbSNP_134	488	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	1987/4062	152281402	2,13004	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281402C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5960G>A	1.37:g.152281402C>T	ENSP00000357789:p.Arg1987His					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R1987H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5995	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1987			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5960G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	2.436	-0.329840	0.05314	4.54E-4	0.0	ENSG00000143631	ENST00000368799	T	0.00940	5.52	1.66	-3.32	0.04973	.	.	.	.	.	T	0.00271	0.0008	L	0.31926	0.97	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.36432	-0.9748	9	0.39692	T	0.17	.	3.6898	0.08341	0.0:0.2542:0.2119:0.5339	.	1987	P20930	FILA_HUMAN	H	1987	ENSP00000357789:R1987H	ENSP00000357789:R1987H	R	-	2	0	FLG	150548026	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.449000	0.02392	-1.207000	0.02637	-0.915000	0.02750	CGT		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		212	288	0	0	0	1	0	212	288				
TNS4	84951	broad.mit.edu	37	17	38645139	38645139	+	Silent	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:38645139C>T	ENST00000254051.6	-	3	680	c.522G>A	c.(520-522)ccG>ccA	p.P174P		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	174	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGCCGAAGGGCGGGGTGACAG	0.607																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(520-522)ccG>ccA		tensin 4							51.0	62.0	58.0					17																	38645139		2201	4299	6500	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38645139C>T	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.522G>A	17.37:g.38645139C>T							p.P174P	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	680	-		Breast(137;0.000496)	174			Ser-rich.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.522G>A	CCDS11368.1																																																																																				0.607	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		9	59	0	0	0	1	0	9	59				
OR2T4	127074	broad.mit.edu	37	1	248525695	248525695	+	Silent	SNP	C	C	A	rs183344109		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:248525695C>A	ENST00000366475.1	+	1	813	c.813C>A	c.(811-813)gcC>gcA	p.A271A		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCCTTTGCCACCTGCTCCT	0.547													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20249	0.0		0.0	False		,,,				2504	0.0					ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(811-813)gcC>gcA		olfactory receptor, family 2, subfamily T, member 4							133.0	131.0	132.0					1																	248525695		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525695C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.813C>A	1.37:g.248525695C>A							p.A271A	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	813	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		271					Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.813C>A	CCDS31113.1																																																																																				0.547	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		37	51	1	0	1.49673e-21	1	1.57988e-21	37	51				
WNK1	65125	broad.mit.edu	37	12	978106	978106	+	Intron	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:978106G>A	ENST00000315939.6	+	9	2782				WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.G371R|WNK1_ENST00000530271.2_Missense_Mutation_p.G1157R|WNK1_ENST00000537687.1_Missense_Mutation_p.G1072R	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)			CCCTACAGGGGGAGCAGCTGC	0.502																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			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.(3214-3216)Gga>Aga		WNK lysine deficient protein kinase 1							202.0	197.0	198.0					12																	978106		1899	4118	6017	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.chr12:978106G>A	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.2140-2325G>A	12.37:g.978106G>A						WNK1_ENST00000574564.1_Missense_Mutation_p.G371R|WNK1_ENST00000530271.2_Missense_Mutation_p.G1157R|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000535572.1_Intron	p.G1072R	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	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)		9	3857	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		822					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.3214G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276160	0.59649	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.12255	2.7;2.7	6.03	6.03	0.97812	.	.	.	.	.	T	0.41949	0.1181	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.09907	-1.0653	8	0.59425	D	0.04	.	18.7558	0.91832	0.0:0.0:1.0:0.0	.	1157	F5H2M7	.	R	1072;1157	ENSP00000444465:G1072R;ENSP00000433548:G1157R	ENSP00000433548:G1157R	G	+	1	0	WNK1	848367	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.802000	0.47916	2.868000	0.98415	0.557000	0.71058	GGA		0.502	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		44	167	0	0	0	1	0	44	167				
ATP1A3	478	broad.mit.edu	37	19	42489240	42489240	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:42489240C>T	ENST00000302102.5	-	8	973	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	ATP1A3_ENST00000602133.1_Missense_Mutation_p.A245T|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A286T|ATP1A3_ENST00000545399.1_Missense_Mutation_p.A288T|ATP1A3_ENST00000468774.2_5'Flank	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	275					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ATCTCGATGGCGATGGGCGTC	0.632																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(862-864)Gcc>Acc		ATPase, Na+/K+ transporting, alpha 3 polypeptide							121.0	94.0	103.0					19																	42489240		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42489240C>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.823G>A	19.37:g.42489240C>T	ENSP00000302397:p.Ala275Thr					ATP1A3_ENST00000602133.1_Missense_Mutation_p.A245T|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A286T|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A275T	p.A288T	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			8	1015	-			275					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.862G>A	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836493	0.91117	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.28	4.28	0.50868	ATPase, P-type, ATPase-associated domain (1);	0.124291	0.53938	D	0.000052	D	0.91250	0.7242	L	0.45137	1.4	0.80722	D	1	P;D;D;D	0.63880	0.942;0.972;0.993;0.977	P;P;D;P	0.65773	0.647;0.782;0.938;0.861	D	0.92120	0.5703	10	0.66056	D	0.02	.	14.613	0.68529	0.0:1.0:0.0:0.0	.	288;286;275;275	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	T	275;275;288;245;19;286	ENSP00000302397:A275T;ENSP00000411503:A275T;ENSP00000444688:A288T;ENSP00000437577:A286T	ENSP00000302397:A275T	A	-	1	0	ATP1A3	47181080	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.982000	0.70532	2.126000	0.65437	0.491000	0.48974	GCC		0.632	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		9	17	0	0	0	1	0	9	17				
PRMT9	90826	broad.mit.edu	37	4	148605024	148605024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr4:148605024G>A	ENST00000322396.6	-	1	357	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	PRMT10_ENST00000541232.1_5'UTR	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		39						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CCGAAGTCCTGGACGCCCAGA	0.672																																						ENST00000322396.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(115-117)Cag>Tag		protein arginine methyltransferase 10 (putative)							58.0	61.0	60.0					4																	148605024		2203	4300	6503	SO:0001587	stop_gained	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148605024G>A																												ENST00000322396.6:c.115C>T	4.37:g.148605024G>A	ENSP00000314396:p.Gln39*					PRMT10_ENST00000541232.1_5'UTR	p.Q39*	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN			1	357	-			39					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Nonsense_Mutation	SNP	ENST00000322396.6	37	c.115C>T	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	G	40	8.056497	0.98632	.	.	ENSG00000164169	ENST00000322396	.	.	.	5.14	5.14	0.70334	.	0.178441	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.8534	0.92241	0.0:0.0:1.0:0.0	.	.	.	.	X	39	.	ENSP00000314396:Q39X	Q	-	1	0	PRMT10	148824474	1.000000	0.71417	0.996000	0.52242	0.876000	0.50452	7.109000	0.77062	2.678000	0.91216	0.644000	0.83932	CAG		0.672	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			15	52	0	0	0	1	0	15	52				
KCNB2	9312	broad.mit.edu	37	8	73480009	73480009	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr8:73480009T>C	ENST00000523207.1	+	2	628	c.40T>C	c.(40-42)Tca>Cca	p.S14P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	14					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CAGGAAGACTTCAAGGTCGAC	0.502																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(40-42)Tca>Cca		potassium voltage-gated channel, Shab-related subfamily, member 2							88.0	88.0	88.0					8																	73480009		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480009T>C	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.40T>C	8.37:g.73480009T>C	ENSP00000430846:p.Ser14Pro						p.S14P	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	628	+	Breast(64;0.137)		14					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.40T>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.104953	0.77096	.	.	ENSG00000182674	ENST00000523207	D	0.97256	-4.31	5.95	4.79	0.61399	.	.	.	.	.	D	0.96516	0.8863	L	0.32530	0.975	0.40379	D	0.97942	D	0.71674	0.998	P	0.61800	0.894	D	0.96644	0.9476	9	0.72032	D	0.01	.	11.9014	0.52687	0.0:0.0677:0.0:0.9323	.	14	Q92953	KCNB2_HUMAN	P	14	ENSP00000430846:S14P	ENSP00000430846:S14P	S	+	1	0	KCNB2	73642563	0.986000	0.35501	0.910000	0.35882	0.977000	0.68977	4.635000	0.61332	1.075000	0.40932	0.533000	0.62120	TCA		0.502	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		39	53	0	0	0	1	0	39	53				
SCN3A	6328	broad.mit.edu	37	2	165997166	165997166	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:165997166G>A	ENST00000360093.3	-	13	2505	c.2014C>T	c.(2014-2016)Cca>Tca	p.P672S	SCN3A_ENST00000283254.7_Missense_Mutation_p.P672S|SCN3A_ENST00000409101.3_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	672					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATCACCTCTGGGGGAAGTTGT	0.473																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(2014-2016)Cca>Tca		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						99.0	93.0	95.0					2																	165997166		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165997166G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2014C>T	2.37:g.165997166G>A	ENSP00000353206:p.Pro672Ser					SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000283254.7_Missense_Mutation_p.P672S	p.P672S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			13	2505	-			672					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2014C>T		.	.	.	.	.	.	.	.	.	.	G	14.84	2.654666	0.47467	.	.	ENSG00000153253	ENST00000360093;ENST00000283254	D;D	0.93189	-3.18;-3.18	6.07	5.17	0.71159	.	0.202040	0.35349	N	0.003269	D	0.95771	0.8624	M	0.86651	2.83	0.80722	D	1	P	0.44816	0.844	P	0.50314	0.637	D	0.95570	0.8637	10	0.51188	T	0.08	.	17.1414	0.86755	0.0:0.2327:0.7673:0.0	.	672	Q9NY46-3	.	S	672	ENSP00000353206:P672S;ENSP00000283254:P672S	ENSP00000283254:P672S	P	-	1	0	SCN3A	165705412	1.000000	0.71417	0.903000	0.35520	0.818000	0.46254	6.652000	0.74377	2.885000	0.99019	0.655000	0.94253	CCA		0.473	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		27	31	0	0	0	1	0	27	31				
GRIN2B	2904	broad.mit.edu	37	12	13717356	13717356	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:13717356C>T	ENST00000609686.1	-	13	3025	c.2816G>A	c.(2815-2817)cGc>cAc	p.R939H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	939					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGTGAAGCTGCGGCGGTGCTC	0.542																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2815-2817)cGc>cAc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						187.0	172.0	177.0					12																	13717356		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717356C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2816G>A	12.37:g.13717356C>T	ENSP00000477455:p.Arg939His						p.R939H	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3025	-			939					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2816G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612549	0.66672	.	.	ENSG00000150086	ENST00000279593	T	0.15256	2.44	5.58	5.58	0.84498	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39200	0.1069	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.02059	-1.1221	10	0.44086	T	0.13	.	19.185	0.93639	0.0:1.0:0.0:0.0	.	939	Q13224	NMDE2_HUMAN	H	939	ENSP00000279593:R939H	ENSP00000279593:R939H	R	-	2	0	GRIN2B	13608623	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	7.813000	0.86123	2.638000	0.89438	0.655000	0.94253	CGC		0.542	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			32	105	0	0	0	1	0	32	105				
ERICH3	127254	broad.mit.edu	37	1	75038691	75038691	+	Silent	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:75038691C>T	ENST00000326665.5	-	14	2921	c.2703G>A	c.(2701-2703)aaG>aaA	p.K901K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		901	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAAGCACTGCCTTCTCTAAAC	0.527																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2701-2703)aaG>aaA		chromosome 1 open reading frame 173							246.0	242.0	243.0					1																	75038691		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75038691C>T																												ENST00000326665.5:c.2703G>A	1.37:g.75038691C>T						C1orf173_ENST00000433746.2_5'UTR	p.K901K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2921	-			901			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.2703G>A	CCDS30755.1																																																																																				0.527	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			7	214	0	0	0	1	0	7	214				
DOCK5	80005	broad.mit.edu	37	8	25253206	25253206	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr8:25253206G>A	ENST00000276440.7	+	45	4719	c.4675G>A	c.(4675-4677)Gtc>Atc	p.V1559I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1559	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGACCCGGCCGTCATGGGGGG	0.582																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4675-4677)Gtc>Atc		dedicator of cytokinesis 5							55.0	51.0	52.0					8																	25253206		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25253206G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4675G>A	8.37:g.25253206G>A	ENSP00000276440:p.Val1559Ile						p.V1559I	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	45	4719	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1559			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.4675G>A	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	35	5.533043	0.96446	.	.	ENSG00000147459	ENST00000276440	T	0.30714	1.52	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	M	0.91972	3.26	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.55923	0.787;0.787	T	0.68965	-0.5270	10	0.56958	D	0.05	.	19.855	0.96755	0.0:0.0:1.0:0.0	.	1549;1559	D3DSS6;Q9H7D0	.;DOCK5_HUMAN	I	1559	ENSP00000276440:V1559I	ENSP00000276440:V1559I	V	+	1	0	DOCK5	25309123	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	9.830000	0.99415	2.691000	0.91804	0.561000	0.74099	GTC		0.582	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		14	12	0	0	0	1	0	14	12				
TEKT4P2	100132288	broad.mit.edu	37	21	9907222	9907222	+	RNA	SNP	T	T	C			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr21:9907222T>C	ENST00000416067.1	-	0	1570					NR_037872.1|NR_038327.1				tektin 4 pseudogene 2																		ATTTGGGGGATTGGGGGGAAG	0.587																																						ENST00000416067.1																			0																																																			0							g.chr21:9907222T>C			21p11.2	2012-10-03	2011-06-14	2011-06-14	ENSG00000188681	ENSG00000188681			40046	pseudogene	pseudogene			"""MAFF interacting protein-like"""	MAFIPL			Standard	NR_038327		Approved		uc021wgx.1		OTTHUMG00000172149		21.37:g.9907222T>C								NR_037872.1|NR_038327.1						0	1570	-									RNA	SNP	ENST00000416067.1	37																																																																																						0.587	TEKT4P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417115.1	NM_001033515		3	17	0	0	0	1	0	3	17				
MTUS2	23281	broad.mit.edu	37	13	29599192	29599192	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr13:29599192T>A	ENST00000431530.3	+	1	445	c.387T>A	c.(385-387)gaT>gaA	p.D129E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	119						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAGGCACAGATAGCCTGCAGA	0.507																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(385-387)gaT>gaA		microtubule associated tumor suppressor candidate 2							97.0	97.0	97.0					13																	29599192		2049	4201	6250	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599192T>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.387T>A	13.37:g.29599192T>A	ENSP00000392057:p.Asp129Glu						p.D129E	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	445	+			119					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.387T>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	t	11.23	1.577827	0.28180	.	.	ENSG00000132938	ENST00000431530	T	0.12255	2.7	4.97	-2.08	0.07254	.	0.577685	0.14959	N	0.288451	T	0.07052	0.0179	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.33369	-0.9871	9	.	.	.	.	1.6626	0.02795	0.1301:0.2928:0.1352:0.442	.	119	Q5JR59	MTUS2_HUMAN	E	129	ENSP00000392057:D129E	.	D	+	3	2	MTUS2	28497192	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.560000	0.05964	-0.481000	0.06792	-0.258000	0.10820	GAT		0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		7	45	0	0	0	1	0	7	45				
TENM3	55714	broad.mit.edu	37	4	183664409	183664409	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr4:183664409C>T	ENST00000511685.1	+	19	3589	c.3466C>T	c.(3466-3468)Cgc>Tgc	p.R1156C	TENM3_ENST00000406950.2_Missense_Mutation_p.R1156C|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1156					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGGGCGAAGGCGCAGCATTTC	0.522																																						ENST00000511685.1																			0											c.(3466-3468)Cgc>Tgc		teneurin transmembrane protein 3							77.0	80.0	79.0					4																	183664409		2040	4197	6237	SO:0001583	missense	55714							g.chr4:183664409C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3466C>T	4.37:g.183664409C>T	ENSP00000424226:p.Arg1156Cys					TENM3_ENST00000406950.2_Missense_Mutation_p.R1156C|TENM3_ENST00000502950.1_3'UTR	p.R1156C							19	3589	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.3466C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332184	0.81801	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.91011	-2.77;-2.77	5.45	5.45	0.79879	.	.	.	.	.	D	0.96030	0.8707	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96158	0.9113	9	0.87932	D	0	.	19.4688	0.94954	0.0:1.0:0.0:0.0	.	1156	Q9P273	TEN3_HUMAN	C	1156	ENSP00000424226:R1156C;ENSP00000385276:R1156C	ENSP00000385276:R1156C	R	+	1	0	ODZ3	183901403	1.000000	0.71417	0.997000	0.53966	0.894000	0.52154	3.770000	0.55310	2.838000	0.97847	0.561000	0.74099	CGC		0.522	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			10	28	0	0	0	1	0	10	28				
TAS2R31	259290	broad.mit.edu	37	12	11183917	11183917	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:11183917G>A	ENST00000390675.2	-	1	89	c.18C>T	c.(16-18)ccC>ccT	p.P6P	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	6					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						AAAAAATGATGGGTATAAAAG	0.403																																						ENST00000390675.2																			0				kidney(1)|lung(6)	7						c.(16-18)ccC>ccT		taste receptor, type 2, member 31							35.0	35.0	35.0					12																	11183917		1865	4113	5978	SO:0001819	synonymous_variant	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183917G>A	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.18C>T	12.37:g.11183917G>A						PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.P6P	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN			1	89	-			6					P59547|Q17R84|Q645X5	Silent	SNP	ENST00000390675.2	37	c.18C>T	CCDS53747.1																																																																																				0.403	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		6	34	0	0	0	1	0	6	34				
RAVER2	55225	broad.mit.edu	37	1	65273098	65273098	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:65273098C>G	ENST00000294428.3	+	9	1699	c.1621C>G	c.(1621-1623)Ctg>Gtg	p.L541V	RAVER2_ENST00000371072.4_Missense_Mutation_p.L528V|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	541						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TGGAAGCTTGCTGGTGGGACA	0.493																																						ENST00000294428.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1621-1623)Ctg>Gtg		ribonucleoprotein, PTB-binding 2							41.0	44.0	43.0					1																	65273098		1897	4122	6019	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65273098C>G	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1621C>G	1.37:g.65273098C>G	ENSP00000294428:p.Leu541Val					RAVER2_ENST00000371072.4_Missense_Mutation_p.L528V|RAVER2_ENST00000430964.2_Intron	p.L541V			Q9HCJ3	RAVR2_HUMAN			9	1699	+			541					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1621C>G		.	.	.	.	.	.	.	.	.	.	C	0.185	-1.058493	0.01950	.	.	ENSG00000162437	ENST00000371072;ENST00000294428	T;T	0.33654	1.42;1.4	5.32	2.04	0.26737	.	1.043170	0.07514	N	0.909396	T	0.19287	0.0463	L	0.58101	1.795	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.43523	-0.9386	10	0.54805	T	0.06	.	11.8111	0.52183	0.1135:0.5192:0.3673:0.0	.	528	Q9HCJ3-2	.	V	528;541	ENSP00000360112:L528V;ENSP00000294428:L541V	ENSP00000294428:L541V	L	+	1	2	RAVER2	65045686	0.018000	0.18449	0.012000	0.15200	0.035000	0.12851	0.160000	0.16462	0.583000	0.29574	-0.196000	0.12772	CTG		0.493	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		4	34	0	0	0	1	0	4	34				
EFNA3	1944	broad.mit.edu	37	1	155058634	155058634	+	Missense_Mutation	SNP	C	C	T	rs143760648		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:155058634C>T	ENST00000368408.3	+	4	609	c.539C>T	c.(538-540)aCt>aTt	p.T180I	EFNA3_ENST00000418360.2_Intron|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000505139.1_Missense_Mutation_p.T175I|EFNA3_ENST00000556931.1_Missense_Mutation_p.T175I	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	180					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGGTCCCCACTCTCCCCCAG	0.682											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368408.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(538-540)aCt>aTt		ephrin-A3		C	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	39.0	38.0	38.0		539	4.5	1.0	1	dbSNP_134	38	0,8598		0,0,4299	no	missense	EFNA3	NM_004952.4	89	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	180/239	155058634	1,13003	2203	4299	6502	SO:0001583	missense	1944				cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr1:155058634C>T	BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"""Ephrins"""	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.539C>T	1.37:g.155058634C>T	ENSP00000357393:p.Thr180Ile		OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	220	EFNA3_ENST00000505139.1_Missense_Mutation_p.T175I|EFNA3_ENST00000556931.1_Missense_Mutation_p.T175I|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000418360.2_Intron	p.T180I	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	609	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		180					B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Missense_Mutation	SNP	ENST00000368408.3	37	c.539C>T	CCDS1090.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462060	0.43736	2.27E-4	0.0	ENSG00000143590;ENSG00000143590;ENSG00000251246	ENST00000556931;ENST00000368408;ENST00000505139	D;D;D	0.94650	-3.48;-3.44;-3.48	4.51	4.51	0.55191	.	0.076527	0.50627	D	0.000117	D	0.84520	0.5490	N	0.24115	0.695	0.80722	D	1	B;P	0.37061	0.346;0.58	B;B	0.32090	0.057;0.14	D	0.86089	0.1549	10	0.37606	T	0.19	-11.6412	15.1743	0.72899	0.0:1.0:0.0:0.0	.	175;180	B4DXG7;P52797	.;EFNA3_HUMAN	I	175;180;175	ENSP00000450814:T175I;ENSP00000357393:T180I;ENSP00000426741:T175I	ENSP00000357393:T180I	T	+	2	0	RP11-540D14.8;EFNA3	153325258	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.620000	0.61226	2.525000	0.85131	0.456000	0.33151	ACT		0.682	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1	NM_004952		7	19	0	0	0	1	0	7	19				
CCDC129	223075	broad.mit.edu	37	7	31682624	31682624	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:31682624C>T	ENST00000407970.3	+	11	1678	c.1640C>T	c.(1639-1641)cCc>cTc	p.P547L	CCDC129_ENST00000451887.2_Missense_Mutation_p.P573L|CCDC129_ENST00000319386.3_Missense_Mutation_p.P399L|CCDC129_ENST00000409210.1_Missense_Mutation_p.P455L	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	547										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTGCCAATGCCCCATGCTGAG	0.527																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1195-1197)cCc>cTc		coiled-coil domain containing 129							140.0	135.0	137.0					7																	31682624		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682624C>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1640C>T	7.37:g.31682624C>T	ENSP00000384416:p.Pro547Leu					CCDC129_ENST00000407970.3_Missense_Mutation_p.P547L|CCDC129_ENST00000409210.1_Missense_Mutation_p.P455L|CCDC129_ENST00000451887.2_Missense_Mutation_p.P573L	p.P399L			Q6ZRS4	CC129_HUMAN			11	2189	+			547					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1196C>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937452	0.52972	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.21361	2.01;2.28;2.28;2.02	5.86	3.88	0.44766	.	1.753860	0.02938	N	0.140064	T	0.28001	0.0690	L	0.54323	1.7	0.09310	N	1	P;P;P;P	0.41188	0.741;0.741;0.741;0.741	B;B;B;B	0.39258	0.295;0.295;0.295;0.295	T	0.37407	-0.9707	10	0.62326	D	0.03	-22.0658	11.4731	0.50282	0.4138:0.5862:0.0:0.0	.	573;557;547;399	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	L	399;547;573;557;455	ENSP00000313062:P399L;ENSP00000384416:P547L;ENSP00000395835:P573L;ENSP00000387214:P455L	ENSP00000313062:P399L	P	+	2	0	CCDC129	31649149	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.595000	0.24029	1.322000	0.45245	0.591000	0.81541	CCC		0.527	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		31	161	0	0	0	1	0	31	161				
KRT13	3860	broad.mit.edu	37	17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:39659673G>A	ENST00000246635.3	-	3	647	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.R201C|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Missense_Mutation_p.R201C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	201	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(601-603)Cgc>Tgc		keratin 13							62.0	62.0	62.0					17																	39659673		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659673G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.601C>T	17.37:g.39659673G>A	ENSP00000246635:p.Arg201Cys					KRT13_ENST00000336861.3_Missense_Mutation_p.R201C|KRT13_ENST00000587544.1_Missense_Mutation_p.R201C	p.R201C	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			3	647	-		Breast(137;0.000286)	201			Coil 1B.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.601C>T	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669876	0.88348	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.91792	-2.91;-2.91	4.4	4.4	0.53042	Filament (1);	0.000000	0.46145	D	0.000309	D	0.93986	0.8074	M	0.82132	2.575	0.80722	D	1	P;P;P;P	0.49559	0.925;0.896;0.873;0.896	P;P;B;P	0.49192	0.602;0.478;0.346;0.478	D	0.94975	0.8120	10	0.66056	D	0.02	.	17.5315	0.87816	0.0:0.0:1.0:0.0	.	189;201;201;201	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	C	201;201;189	ENSP00000246635:R201C;ENSP00000336604:R201C	ENSP00000157775:R189C	R	-	1	0	KRT13	36913199	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.441000	0.66569	2.444000	0.82710	0.561000	0.74099	CGC		0.483	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		30	31	0	0	0	1	0	30	31				
IRF9	10379	broad.mit.edu	37	14	24634044	24634044	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr14:24634044C>T	ENST00000396864.3	+	7	1158	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	IRF9_ENST00000557894.1_Nonsense_Mutation_p.Q189*|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	291					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTCTTCGTGCAGCGCCTTTG	0.672																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(871-873)Cag>Tag		interferon regulatory factor 9							65.0	64.0	64.0					14																	24634044		2203	4300	6503	SO:0001587	stop_gained	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24634044C>T	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.871C>T	14.37:g.24634044C>T	ENSP00000380073:p.Gln291*					RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Nonsense_Mutation_p.Q189*	p.Q291*	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	7	1158	+			291					D3DS61	Nonsense_Mutation	SNP	ENST00000396864.3	37	c.871C>T	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	C	37	6.548649	0.97654	.	.	ENSG00000213928	ENST00000396864	.	.	.	5.71	3.84	0.44239	.	0.169699	0.38111	U	0.001804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-16.4989	9.2894	0.37778	0.1645:0.6771:0.1583:0.0	.	.	.	.	X	291	.	ENSP00000380073:Q291X	Q	+	1	0	IRF9	23703884	1.000000	0.71417	0.712000	0.30502	0.995000	0.86356	1.752000	0.38349	0.718000	0.32166	0.462000	0.41574	CAG		0.672	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			20	86	0	0	0	1	0	20	86				
AHNAK2	113146	broad.mit.edu	37	14	105418755	105418755	+	Silent	SNP	C	C	T	rs368288854		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr14:105418755C>T	ENST00000333244.5	-	7	3152	c.3033G>A	c.(3031-3033)tcG>tcA	p.S1011S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1011						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCCTGGGGCCGATACCCCGA	0.607																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3031-3033)tcG>tcA		AHNAK nucleoprotein 2		C		0,3952		0,0,1976	222.0	239.0	233.0		3033	-7.4	0.0	14		233	1,8357		0,1,4178	no	coding-synonymous	AHNAK2	NM_138420.2		0,1,6154	TT,TC,CC		0.012,0.0,0.0081		1011/5796	105418755	1,12309	1976	4179	6155	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418755C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3033G>A	14.37:g.105418755C>T						AHNAK2_ENST00000557457.1_Intron	p.S1011S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3152	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1011					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.3033G>A	CCDS45177.1																																																																																				0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		131	146	0	0	0	1	0	131	146				
STAG2	10735	broad.mit.edu	37	X	123179121	123179121	+	Silent	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:123179121C>T	ENST00000371160.1	+	8	860	c.570C>T	c.(568-570)atC>atT	p.I190I	STAG2_ENST00000354548.5_Silent_p.I121I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.I190I|STAG2_ENST00000371157.3_Silent_p.I190I|STAG2_ENST00000371145.3_Silent_p.I190I|STAG2_ENST00000371144.3_Silent_p.I190I	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	190					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATATAGTATCATATATGATG	0.408																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(568-570)atC>atT		stromal antigen 2							192.0	181.0	185.0					X																	123179121		2203	4300	6503	SO:0001819	synonymous_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123179121C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.570C>T	X.37:g.123179121C>T						STAG2_ENST00000354548.5_Silent_p.I121I|STAG2_ENST00000218089.9_Silent_p.I190I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Silent_p.I190I|STAG2_ENST00000371145.3_Silent_p.I190I|STAG2_ENST00000371144.3_Silent_p.I190I	p.I190I			Q8N3U4	STAG2_HUMAN			8	860	+			190					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	c.570C>T	CCDS14607.1																																																																																				0.408	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		72	90	0	0	0	1	0	72	90				
ARHGEF2	9181	broad.mit.edu	37	1	155935533	155935533	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:155935533G>A	ENST00000361247.4	-	5	458	c.359C>T	c.(358-360)cCa>cTa	p.P120L	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P120L|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P93L|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P93L|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.P165L|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P121L	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	120					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCCGAGCTTGGCCGCTCCCG	0.622																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(277-279)cCa>cTa		Rho/Rac guanine nucleotide exchange factor (GEF) 2							38.0	45.0	43.0					1																	155935533		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155935533G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.359C>T	1.37:g.155935533G>A	ENSP00000354837:p.Pro120Leu					ARHGEF2_ENST00000361247.4_Missense_Mutation_p.P120L|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P120L|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.P121L|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P93L	p.P93L			Q92974	ARHG2_HUMAN			9	748	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		120					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.278C>T	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119888	0.94385	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.69175	-0.38;-0.25;-0.26;-0.38;-0.38	4.97	4.97	0.65823	.	0.000000	0.47852	D	0.000213	T	0.77961	0.4209	M	0.74647	2.275	0.80722	D	1	D;P;D;D	0.89917	0.978;0.866;1.0;0.969	P;P;D;P	0.87578	0.762;0.659;0.998;0.877	T	0.79727	-0.1682	10	0.62326	D	0.03	-29.5863	15.7654	0.78123	0.0:0.0:1.0:0.0	.	165;165;120;120	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	L	93;120;121;93;165;93;120	ENSP00000315325:P93L;ENSP00000354837:P120L;ENSP00000357298:P121L;ENSP00000357299:P93L;ENSP00000314787:P120L	ENSP00000314787:P120L	P	-	2	0	ARHGEF2	154202157	1.000000	0.71417	0.972000	0.41901	0.912000	0.54170	9.382000	0.97209	2.596000	0.87737	0.561000	0.74099	CCA		0.622	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		13	29	0	0	0	1	0	13	29				
MNS1	55329	broad.mit.edu	37	15	56721344	56721344	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr15:56721344G>A	ENST00000260453.3	-	10	1607	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron|MNS1_ENST00000566386.1_5'UTR	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	481					cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		ATACTTTCCTGAACTCTTCAC	0.323																																						ENST00000260453.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1441-1443)ttC>ttT		meiosis-specific nuclear structural 1							111.0	103.0	105.0					15																	56721344		2191	4284	6475	SO:0001819	synonymous_variant	55329				meiosis			g.chr15:56721344G>A	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.1443C>T	15.37:g.56721344G>A						TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron|MNS1_ENST00000566386.1_5'UTR	p.F481F	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	10	1607	-			481					Q8IYT6|Q9NUP4	Silent	SNP	ENST00000260453.3	37	c.1443C>T	CCDS10158.1																																																																																				0.323	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		8	28	0	0	0	1	0	8	28				
PLXNB3	5365	broad.mit.edu	37	X	153036313	153036313	+	Missense_Mutation	SNP	G	G	A	rs373965130		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:153036313G>A	ENST00000361971.5	+	11	2225	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H	PLXNB3_ENST00000538966.1_Missense_Mutation_p.R727H|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R357H|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R314H|PLXNB3_ENST00000538543.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	704					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGGCCCTACGCGTGCGGAAC	0.637																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(2179-2181)cGc>cAc		plexin B3			HIS/ARG,HIS/ARG	1,3832		0,0,1,1632,568	77.0	70.0	73.0		2111,2180	-1.4	0.0	X		73	0,6727		0,0,0,2428,1871	no	missense,missense	PLXNB3	NM_005393.2,NM_001163257.1	29,29	0,0,1,4060,2439	AA,AG,A,GG,G		0.0,0.0261,0.0095	benign,benign	704/1910,727/1933	153036313	1,10559	2201	4299	6500	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153036313G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2111G>A	X.37:g.153036313G>A	ENSP00000355378:p.Arg704His					PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R314H|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R704H|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R357H	p.R727H	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			12	2451	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		704					B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.2180G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	g	2.323	-0.355127	0.05138	2.61E-4	0.0	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.68025	5.24;5.21;4.63;-0.3	5.13	-1.35	0.09114	.	1.671420	0.03122	N	0.163977	T	0.56587	0.1995	L	0.43701	1.375	0.09310	N	1	B;B;B;B	0.18310	0.003;0.027;0.011;0.001	B;B;B;B	0.12837	0.002;0.004;0.008;0.002	T	0.31251	-0.9950	10	0.39692	T	0.17	.	5.3371	0.15963	0.5721:0.0:0.2863:0.1416	.	357;386;727;704	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	H	727;704;357;314	ENSP00000442736:R727H;ENSP00000355378:R704H;ENSP00000445569:R357H;ENSP00000441919:R314H	ENSP00000355378:R704H	R	+	2	0	PLXNB3	152689507	0.000000	0.05858	0.008000	0.14137	0.113000	0.19764	-0.085000	0.11250	-0.453000	0.07076	-0.481000	0.04817	CGC		0.637	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			13	64	0	0	0	1	0	13	64				
SOAT1	6646	broad.mit.edu	37	1	179319441	179319441	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:179319441A>G	ENST00000367619.3	+	14	1468	c.1325A>G	c.(1324-1326)aAg>aGg	p.K442R	SOAT1_ENST00000539888.1_Missense_Mutation_p.K377R|SOAT1_ENST00000540564.1_Missense_Mutation_p.K384R|SOAT1_ENST00000535686.1_Missense_Mutation_p.K178R	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	442					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTTTTCTCCAAGAGATTCAAA	0.353																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(1324-1326)aAg>aGg		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						157.0	140.0	146.0					1																	179319441		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179319441A>G	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1325A>G	1.37:g.179319441A>G	ENSP00000356591:p.Lys442Arg					SOAT1_ENST00000535686.1_Missense_Mutation_p.K178R|SOAT1_ENST00000540564.1_Missense_Mutation_p.K384R|SOAT1_ENST00000539888.1_Missense_Mutation_p.K377R	p.K442R	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			14	1468	+			442					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.1325A>G	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	A	6.161	0.397982	0.11696	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.81	4.5	0.54988	.	0.083974	0.85682	D	0.000000	T	0.51398	0.1672	N	0.14661	0.345	0.39545	D	0.968886	B;B	0.11235	0.004;0.004	B;B	0.17979	0.006;0.02	T	0.46830	-0.9163	10	0.09843	T	0.71	-21.7731	7.0761	0.25205	0.8287:0.0:0.1713:0.0	.	384;442	A8K3P4;P35610	.;SOAT1_HUMAN	R	377;384;178;442	ENSP00000441356:K377R;ENSP00000445315:K384R;ENSP00000442503:K178R;ENSP00000356591:K442R	ENSP00000356591:K442R	K	+	2	0	SOAT1	177586064	1.000000	0.71417	0.759000	0.31340	0.711000	0.40976	2.814000	0.48010	2.217000	0.71921	0.482000	0.46254	AAG		0.353	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		21	30	0	0	0	1	0	21	30				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	20	0	0	0	1	0	3	20				
ANK1	286	broad.mit.edu	37	8	41530255	41530255	+	Silent	SNP	C	C	T	rs138394311	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr8:41530255C>T	ENST00000347528.4	-	38	4796	c.4713G>A	c.(4711-4713)gcG>gcA	p.A1571A	ANK1_ENST00000289734.7_Silent_p.A1571A|ANK1_ENST00000396945.1_Silent_p.A1571A|ANK1_ENST00000379758.2_Silent_p.A1571A|ANK1_ENST00000352337.4_Silent_p.A1571A|ANK1_ENST00000396942.1_Silent_p.A1571A|ANK1_ENST00000265709.8_Silent_p.A1612A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1571	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGTGAGGCCCGCAGACCACA	0.602													C|||	5	0.000998403	0.0023	0.0	5008	,	,		19846	0.0		0.0	False		,,,				2504	0.002					ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(4711-4713)gcG>gcA		ankyrin 1, erythrocytic		C	,,,,	6,4400	9.9+/-24.2	0,6,2197	57.0	56.0	56.0		4713,4836,4713,4713,	1.2	1.0	8	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,,,,	1571/1881,1612/1898,1571/1857,1571/1882,	41530255	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41530255C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4713G>A	8.37:g.41530255C>T						ANK1_ENST00000265709.8_Silent_p.A1612A|ANK1_ENST00000379758.2_Silent_p.A1571A|ANK1_ENST00000289734.7_Silent_p.A1571A|ANK1_ENST00000396945.1_Silent_p.A1571A|ANK1_ENST00000347528.4_Silent_p.A1571A|ANK1_ENST00000352337.4_Silent_p.A1571A	p.A1571A			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	4796	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1571			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.4713G>A	CCDS6119.1																																																																																				0.602	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		19	31	0	0	0	1	0	19	31				
SLC13A2	9058	broad.mit.edu	37	17	26817852	26817852	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:26817852G>A	ENST00000314669.5	+	4	922	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	SLC13A2_ENST00000537681.1_Missense_Mutation_p.V97I|SLC13A2_ENST00000545060.1_Missense_Mutation_p.V125I|SLC13A2_ENST00000444914.3_Missense_Mutation_p.V217I	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	168					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGCAGCAACGTCGAGGAGGG	0.597																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(649-651)Gtc>Atc		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)						67.0	58.0	61.0					17																	26817852		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26817852G>A	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.502G>A	17.37:g.26817852G>A	ENSP00000316202:p.Val168Ile					SLC13A2_ENST00000545060.1_Missense_Mutation_p.V125I|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V97I|SLC13A2_ENST00000314669.5_Missense_Mutation_p.V168I	p.V217I	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	4	1069	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		168					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.649G>A	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	9.530	1.110561	0.20714	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.70631	-0.19;-0.2;-0.5;-0.5	5.42	-2.85	0.05734	.	1.692810	0.03099	N	0.160855	T	0.66157	0.2761	M	0.63843	1.955	0.09310	N	1	B;B;B;B;B	0.16166	0.009;0.014;0.016;0.007;0.016	B;B;B;B;B	0.18561	0.004;0.022;0.009;0.005;0.009	T	0.42982	-0.9419	10	0.30078	T	0.28	-2.0318	8.1258	0.30997	0.4036:0.1821:0.4143:0.0	.	125;217;124;97;168	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	I	168;217;125;124;97	ENSP00000316202:V168I;ENSP00000392411:V217I;ENSP00000441935:V125I;ENSP00000440802:V97I	ENSP00000316202:V168I	V	+	1	0	SLC13A2	23841979	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.016000	0.13377	-1.239000	0.02532	-2.230000	0.00291	GTC		0.597	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		8	12	0	0	0	1	0	8	12				
UTRN	7402	broad.mit.edu	37	6	145156985	145156985	+	Silent	SNP	G	G	A	rs375428730		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr6:145156985G>A	ENST00000367545.3	+	69	9735	c.9735G>A	c.(9733-9735)ccG>ccA	p.P3245P	UTRN_ENST00000367526.4_Silent_p.P800P	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3245					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGAGCCAGCCGCAGAGCCCAG	0.557																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(9733-9735)ccG>ccA		utrophin		G		1,4405	2.1+/-5.4	0,1,2202	118.0	120.0	119.0		9735	-11.8	0.8	6		119	0,8600		0,0,4300	no	coding-synonymous	UTRN	NM_007124.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3245/3434	145156985	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145156985G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9735G>A	6.37:g.145156985G>A						UTRN_ENST00000367526.4_Silent_p.P800P	p.P3245P	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	69	9735	+		Ovarian(120;0.218)	3245					Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.9735G>A	CCDS34547.1																																																																																				0.557	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			4	157	0	0	0	1	0	4	157				
MAP7D2	256714	broad.mit.edu	37	X	20033363	20033363	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:20033363T>G	ENST00000379651.3	-	11	1622	c.1604A>C	c.(1603-1605)cAg>cCg	p.Q535P	MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q576P|MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q420P|MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q490P|MIR23C_ENST00000579846.1_RNA|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q483P	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	535					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CAGTCTCTCCTGCTCAATCTG	0.473																																						ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(1603-1605)cAg>cCg		MAP7 domain containing 2							183.0	139.0	154.0					X																	20033363		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20033363T>G	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1604A>C	X.37:g.20033363T>G	ENSP00000368972:p.Gln535Pro					MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q490P|MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q576P|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q483P|MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q420P	p.Q535P	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			11	1622	-			535					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.1604A>C	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.066475	0.76187	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.6	4.43	0.53597	.	0.085134	0.49916	D	0.000127	T	0.63212	0.2492	M	0.88450	2.955	0.54753	D	0.999986	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.81914	0.995;0.991;0.991;0.991;0.992	T	0.70107	-0.4963	10	0.87932	D	0	-10.6947	10.9261	0.47191	0.0:0.0759:0.0:0.9241	.	490;483;576;535;420	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	P	535;576;420;490;218;483	ENSP00000368972:Q535P;ENSP00000368964:Q576P;ENSP00000440691:Q420P;ENSP00000388239:Q490P;ENSP00000413301:Q483P	ENSP00000368964:Q576P	Q	-	2	0	MAP7D2	19943284	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.159000	0.64923	1.880000	0.54463	0.413000	0.27773	CAG		0.473	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		9	64	0	0	0	1	0	9	64				
DGKG	1608	broad.mit.edu	37	3	186024718	186024718	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr3:186024718C>T	ENST00000265022.3	-	3	655	c.116G>A	c.(115-117)gGg>gAg	p.G39E	DGKG_ENST00000544847.1_Missense_Mutation_p.G39E|DGKG_ENST00000382164.4_Missense_Mutation_p.G39E|DGKG_ENST00000344484.4_Missense_Mutation_p.G39E	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	39					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TTTGAGGCTCCCACCCTCATT	0.383																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(115-117)gGg>gAg		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						156.0	153.0	154.0					3																	186024718		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186024718C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.116G>A	3.37:g.186024718C>T	ENSP00000265022:p.Gly39Glu					DGKG_ENST00000544847.1_Missense_Mutation_p.G39E|DGKG_ENST00000382164.4_Missense_Mutation_p.G39E|DGKG_ENST00000344484.4_Missense_Mutation_p.G39E	p.G39E	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	3	655	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		39					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.116G>A	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049437	0.75846	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	4.66	4.66	0.58398	.	0.222904	0.35495	N	0.003176	T	0.77890	0.4198	L	0.58810	1.83	0.52501	D	0.999955	D;D;D;D	0.89917	0.982;0.992;0.957;1.0	P;P;P;D	0.80764	0.86;0.86;0.781;0.994	T	0.79885	-0.1614	10	0.87932	D	0	.	13.7663	0.62997	0.0:1.0:0.0:0.0	.	39;39;39;39	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	E	39;39;39;39;42	ENSP00000265022:G39E;ENSP00000339777:G39E;ENSP00000371599:G39E;ENSP00000440507:G39E	ENSP00000265022:G39E	G	-	2	0	DGKG	187507412	0.990000	0.36364	0.782000	0.31804	0.839000	0.47603	3.670000	0.54569	2.518000	0.84900	0.557000	0.71058	GGG		0.383	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			8	42	0	0	0	1	0	8	42				
NIPBL	25836	broad.mit.edu	37	5	37000657	37000657	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:37000657C>T	ENST00000282516.8	+	12	3986	c.3487C>T	c.(3487-3489)Ccc>Tcc	p.P1163S	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1163S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1163					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTCTCCTCCTCCCAGCCTTAG	0.393																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(3487-3489)Ccc>Tcc		Nipped-B homolog (Drosophila)							118.0	113.0	115.0					5																	37000657		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37000657C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3487C>T	5.37:g.37000657C>T	ENSP00000282516:p.Pro1163Ser					NIPBL_ENST00000448238.2_Missense_Mutation_p.P1163S	p.P1163S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		12	3986	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1163					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.3487C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803693	0.90623	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93076	-3.16;-3.16	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.972;0.998	D	0.93776	0.7079	10	0.25106	T	0.35	.	20.0749	0.97738	0.0:1.0:0.0:0.0	.	1163;1163	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	S	1163	ENSP00000282516:P1163S;ENSP00000406266:P1163S	ENSP00000282516:P1163S	P	+	1	0	NIPBL	37036414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.133000	0.77259	2.759000	0.94783	0.591000	0.81541	CCC		0.393	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		20	51	0	0	0	1	0	20	51				
GPR37	2861	broad.mit.edu	37	7	124386977	124386977	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:124386977G>A	ENST00000303921.2	-	2	2094	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	482					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAATCTGCCGTTTATTCCCT	0.428																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1444-1446)Cgg>Tgg		G protein-coupled receptor 37 (endothelin receptor type B-like)							109.0	105.0	107.0					7																	124386977		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124386977G>A		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1444C>T	7.37:g.124386977G>A	ENSP00000306449:p.Arg482Trp						p.R482W	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			2	2094	-			482					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1444C>T	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047273	0.55110	.	.	ENSG00000170775	ENST00000303921	T	0.46451	0.87	5.62	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000043	T	0.52256	0.1723	L	0.32530	0.975	0.40585	D	0.981436	D	0.89917	1.0	D	0.77557	0.99	T	0.58515	-0.7623	10	0.87932	D	0	-23.3794	15.1042	0.72306	0.0:0.0:0.6227:0.3773	.	482	O15354	GPR37_HUMAN	W	482	ENSP00000306449:R482W	ENSP00000306449:R482W	R	-	1	2	GPR37	124174213	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.745000	0.47459	0.666000	0.31087	0.655000	0.94253	CGG		0.428	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		17	106	0	0	0	1	0	17	106				
PCDHGA5	56110	broad.mit.edu	37	5	140744172	140744172	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:140744172G>A	ENST00000518069.1	+	1	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATAGACCGGGAGGAGCTC	0.537																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(274-276)cGg>cAg									53.0	62.0	59.0					5																	140744172		2188	4297	6485	SO:0001583	missense	0							g.chr5:140744172G>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.275G>A	5.37:g.140744172G>A	ENSP00000429834:p.Arg92Gln					PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.R92Q	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	275	+								Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.275G>A	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	28.9	4.960244	0.92791	.	.	ENSG00000253485	ENST00000518069	T	0.53206	0.63	5.38	5.38	0.77491	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.84106	0.5399	H	0.99924	4.96	0.35492	D	0.799092	D;D	0.89917	0.996;1.0	P;D	0.66497	0.887;0.944	D	0.93803	0.7103	9	0.87932	D	0	.	19.1672	0.93562	0.0:0.0:1.0:0.0	.	92;92	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	Q	92	ENSP00000429834:R92Q	ENSP00000429834:R92Q	R	+	2	0	PCDHGA5	140724356	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.810000	0.99221	2.694000	0.91930	0.558000	0.71614	CGG		0.537	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		19	87	0	0	0	1	0	19	87				
CNTROB	116840	broad.mit.edu	37	17	7850971	7850971	+	Silent	SNP	C	C	T	rs563111997		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:7850971C>T	ENST00000563694.1	+	14	3001	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D	CNTROB_ENST00000380262.3_Silent_p.D692D|CNTROB_ENST00000565740.1_Silent_p.D692D|CNTROB_ENST00000380255.3_3'UTR	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	692	Pro-rich.|Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTGGACCTGACGGGGAGGGCC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17554	0.0		0.0	False		,,,				2504	0.001					ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(2074-2076)gaC>gaT		centrobin, centrosomal BRCA2 interacting protein							101.0	105.0	103.0					17																	7850971		2203	4300	6503	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7850971C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2076C>T	17.37:g.7850971C>T						CNTROB_ENST00000565740.1_Silent_p.D692D|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Silent_p.D692D	p.D692D	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			14	3001	+		Prostate(122;0.173)	692			Pro-rich.|Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.2076C>T	CCDS11126.1																																																																																				0.557	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		50	101	0	0	0	1	0	50	101				
MKNK1	8569	broad.mit.edu	37	1	47024399	47024399	+	Missense_Mutation	SNP	C	C	T	rs147526106		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:47024399C>T	ENST00000371946.4	-	14	1409	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	MKNK1_ENST00000371945.4_Missense_Mutation_p.E375K|MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000371944.4_Missense_Mutation_p.E280K|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000428112.2_3'UTR	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	416					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCGTTCTCTTCGTGCTGAGAT	0.602																																						ENST00000371946.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13						c.(1246-1248)Gaa>Aaa		MAP kinase interacting serine/threonine kinase 1		C	LYS/GLU,LYS/GLU,	0,4406		0,0,2203	79.0	78.0	78.0		1123,1246,	5.5	1.0	1	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3	MKNK1	NM_001135553.1,NM_003684.4,NM_198973.2	56,56,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,	375/425,416/466,	47024399	1,13005	2203	4300	6503	SO:0001583	missense	8569				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:47024399C>T	AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.1246G>A	1.37:g.47024399C>T	ENSP00000361014:p.Glu416Lys					MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000428112.2_3'UTR|MKNK1_ENST00000371945.4_Missense_Mutation_p.E375K|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Missense_Mutation_p.E280K	p.E416K	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN			14	1409	-	Acute lymphoblastic leukemia(166;0.155)		416					D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Missense_Mutation	SNP	ENST00000371946.4	37	c.1246G>A	CCDS538.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188382	0.78789	0.0	1.16E-4	ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000371944	T;T;T	0.70749	-0.12;-0.51;0.15	5.47	5.47	0.80525	.	0.152167	0.64402	D	0.000017	T	0.77598	0.4154	M	0.71581	2.175	0.80722	D	1	D;D;D	0.64830	0.967;0.994;0.982	B;P;P	0.50860	0.288;0.646;0.652	T	0.77332	-0.2627	10	0.37606	T	0.19	-44.0105	18.3144	0.90215	0.0:1.0:0.0:0.0	.	280;375;416	Q7Z319;Q9BUB5-2;Q9BUB5	.;.;MKNK1_HUMAN	K	416;375;280	ENSP00000361014:E416K;ENSP00000361013:E375K;ENSP00000361012:E280K	ENSP00000361012:E280K	E	-	1	0	MKNK1	46796986	1.000000	0.71417	0.998000	0.56505	0.807000	0.45602	7.818000	0.86416	2.556000	0.86216	0.561000	0.74099	GAA		0.602	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2	NM_003684		10	55	0	0	0	1	0	10	55				
SIGLEC1	6614	broad.mit.edu	37	20	3686553	3686553	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr20:3686553G>A	ENST00000344754.4	-	3	543	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R182C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	182	Ig-like C2-type 1.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTGACAGAGCGAGCAGGGTCC	0.627																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(544-546)Cgc>Tgc		sialic acid binding Ig-like lectin 1, sialoadhesin							106.0	96.0	100.0					20																	3686553		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3686553G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.544C>T	20.37:g.3686553G>A	ENSP00000341141:p.Arg182Cys					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R182C	p.R182C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			3	543	-			182			Ig-like C2-type 1.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.544C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630361	0.46944	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.75938	-0.98;-0.98	4.68	4.68	0.58851	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.572660	0.14752	N	0.300522	T	0.82171	0.4979	M	0.67953	2.075	0.20074	N	0.999931	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.65773	0.899;0.938;0.897	T	0.71738	-0.4502	10	0.42905	T	0.14	.	10.2219	0.43203	0.0:0.0:0.8022:0.1978	.	182;182;182	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	C	182	ENSP00000341141:R182C;ENSP00000202578:R182C	ENSP00000202578:R182C	R	-	1	0	SIGLEC1	3634553	0.006000	0.16342	0.364000	0.25888	0.524000	0.34500	1.696000	0.37773	2.435000	0.82474	0.462000	0.41574	CGC		0.627	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		18	83	0	0	0	1	0	18	83				
PBX4	80714	broad.mit.edu	37	19	19675808	19675808	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:19675808C>T	ENST00000251203.9	-	6	1145	c.859G>A	c.(859-861)Gct>Act	p.A287T		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	287					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GTATCCACAGCCGTTTTACCC	0.527																																						ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(859-861)Gct>Act		pre-B-cell leukemia homeobox 4							292.0	294.0	294.0					19																	19675808		2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19675808C>T	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.859G>A	19.37:g.19675808C>T	ENSP00000251203:p.Ala287Thr						p.A287T	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			6	1145	-			287					A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.859G>A	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335165	0.41398	.	.	ENSG00000105717	ENST00000251203	D	0.91237	-2.81	3.67	1.31	0.21738	.	0.225560	0.36778	N	0.002418	D	0.88112	0.6349	M	0.77103	2.36	0.51767	D	0.999934	B	0.33826	0.427	B	0.32211	0.142	T	0.82908	-0.0224	10	0.45353	T	0.12	-13.4261	9.3346	0.38043	0.401:0.599:0.0:0.0	.	287	Q9BYU1	PBX4_HUMAN	T	287	ENSP00000251203:A287T	ENSP00000251203:A287T	A	-	1	0	PBX4	19536808	0.643000	0.27269	0.001000	0.08648	0.013000	0.08279	1.308000	0.33528	0.174000	0.19809	0.505000	0.49811	GCT		0.527	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			57	382	0	0	0	1	0	57	382				
MED15	51586	broad.mit.edu	37	22	20929472	20929472	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr22:20929472G>A	ENST00000263205.7	+	9	1294	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	MED15_ENST00000541476.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000292733.7_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	409	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CGCTGTGTCCGCCATCCCGTC	0.622																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1225-1227)Gcc>Acc		mediator complex subunit 15							97.0	83.0	88.0					22																	20929472		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20929472G>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1225G>A	22.37:g.20929472G>A	ENSP00000263205:p.Ala409Thr					MED15_ENST00000478831.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000382974.2_Intron	p.A409T	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		9	1294	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	409			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1225G>A	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303636	0.40795	.	.	ENSG00000099917	ENST00000263205;ENST00000542312	.	.	.	5.07	0.676	0.17958	Mediator complex, subunit Med15, metazoa (1);	0.517876	0.21015	N	0.081610	T	0.38692	0.1050	L	0.34521	1.04	0.54753	D	0.999983	B;B	0.18863	0.031;0.024	B;B	0.13407	0.009;0.006	T	0.10753	-1.0616	9	0.13853	T	0.58	.	8.6722	0.34156	0.3286:0.0:0.6714:0.0	.	355;409	B4DGD6;Q96RN5	.;MED15_HUMAN	T	409;355	.	ENSP00000263205:A409T	A	+	1	0	MED15	19259472	0.964000	0.33143	0.074000	0.20217	0.659000	0.38960	1.682000	0.37628	0.565000	0.29255	-0.918000	0.02743	GCC		0.622	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		4	95	0	0	0	1	0	4	95				
PCDHGA2	56113	broad.mit.edu	37	5	140719294	140719294	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:140719294G>A	ENST00000394576.2	+	1	756	c.756G>A	c.(754-756)ccG>ccA	p.P252P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	252	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGCATTCCGGAGAATACGC	0.552																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(754-756)ccG>ccA									74.0	77.0	76.0					5																	140719294		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140719294G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.756G>A	5.37:g.140719294G>A						PCDHGA1_ENST00000517417.1_Intron	p.P252P	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	756	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.756G>A	CCDS47289.1																																																																																				0.552	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		34	80	0	0	0	1	0	34	80				
COL6A3	1293	broad.mit.edu	37	2	238280552	238280552	+	Missense_Mutation	SNP	C	C	T	rs372234605		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:238280552C>T	ENST00000295550.4	-	9	4560	c.4108G>A	c.(4108-4110)Gcc>Acc	p.A1370T	COL6A3_ENST00000409809.1_Missense_Mutation_p.A1164T|COL6A3_ENST00000392004.3_Missense_Mutation_p.A1164T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1164T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A763T|COL6A3_ENST00000392003.2_Missense_Mutation_p.A963T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1169T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1170T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1370	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCGTTCCTGGCGATCGTGAAA	0.612																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(4108-4110)Gcc>Acc		collagen, type VI, alpha 3							61.0	56.0	58.0					2																	238280552		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280552C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4108G>A	2.37:g.238280552C>T	ENSP00000295550:p.Ala1370Thr					COL6A3_ENST00000472056.1_Missense_Mutation_p.A763T|COL6A3_ENST00000392004.3_Missense_Mutation_p.A1164T|COL6A3_ENST00000392003.2_Missense_Mutation_p.A963T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1169T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1164T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1164T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1170T	p.A1370T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	9	4560	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1370			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4108G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724966	0.68959	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.83	4.93	0.64822	von Willebrand factor, type A (3);	0.534212	0.16664	N	0.204647	D	0.87390	0.6165	L	0.39514	1.22	0.43693	D	0.996146	D;P;P;D;D	0.69078	0.997;0.954;0.947;0.997;0.992	D;P;P;D;P	0.69824	0.966;0.686;0.804;0.92;0.793	D	0.86816	0.2001	10	0.49607	T	0.09	.	15.9116	0.79477	0.1483:0.8517:0.0:0.0	.	763;963;1164;1164;1370	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	T	1370;1169;1164;763;1164;1170;1164;963	ENSP00000295550:A1370T;ENSP00000315609:A1169T;ENSP00000315873:A1164T;ENSP00000418285:A763T;ENSP00000386844:A1164T;ENSP00000295546:A1170T;ENSP00000375861:A1164T;ENSP00000375860:A963T	ENSP00000295550:A1370T	A	-	1	0	COL6A3	237945291	0.963000	0.33076	0.009000	0.14445	0.050000	0.14768	3.265000	0.51561	1.392000	0.46585	0.650000	0.86243	GCC		0.612	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		5	43	0	0	0	1	0	5	43				
MUC5B	727897	broad.mit.edu	37	11	1271690	1271690	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:1271690C>A	ENST00000529681.1	+	31	13638	c.13580C>A	c.(13579-13581)tCc>tAc	p.S4527Y	MUC5B_ENST00000447027.1_Missense_Mutation_p.S4530Y|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4527	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCATCCCCTCCTCCTCCCTG	0.622																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13588-13590)tCc>tAc		mucin 5B, oligomeric mucus/gel-forming							54.0	80.0	71.0					11																	1271690		2033	4155	6188	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271690C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13580C>A	11.37:g.1271690C>A	ENSP00000436812:p.Ser4527Tyr					MUC5B_ENST00000529681.1_Missense_Mutation_p.S4527Y	p.S4530Y			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13647	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4527			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13589C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	2.996	-0.207181	0.06180	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.25085	1.82;2.01	2.12	-0.592	0.11671	.	.	.	.	.	T	0.16642	0.0400	L	0.43923	1.385	0.09310	N	1	B;B	0.32876	0.388;0.388	B;B	0.23275	0.045;0.045	T	0.19095	-1.0316	9	0.87932	D	0	.	5.0627	0.14566	0.0:0.4429:0.4152:0.1419	.	5000;4530	A7Y9J9;E9PBJ0	.;.	Y	4527;4530;4471;4377	ENSP00000436812:S4527Y;ENSP00000415793:S4530Y	ENSP00000343037:S4471Y	S	+	2	0	MUC5B	1228266	0.001000	0.12720	0.003000	0.11579	0.038000	0.13279	1.113000	0.31184	0.164000	0.19529	0.184000	0.17185	TCC		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		33	66	1	0	2.66277e-13	1	2.74959e-13	33	66				
RIMS1	22999	broad.mit.edu	37	6	72889437	72889437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr6:72889437C>T	ENST00000521978.1	+	5	631	c.631C>T	c.(631-633)Cga>Tga	p.R211*	RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R211*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.R211*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R211*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R211*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	211					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAAGAAAGCACGACTCCAAGA	0.567																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(631-633)Cga>Tga		regulating synaptic membrane exocytosis 1							75.0	84.0	81.0					6																	72889437		2079	4216	6295	SO:0001587	stop_gained	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72889437C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.631C>T	6.37:g.72889437C>T	ENSP00000428417:p.Arg211*					RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R211*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R211*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R211*	p.R211*			Q86UR5	RIMS1_HUMAN			5	631	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	211					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	c.631C>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592593	0.86953	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	.	.	.	5.65	1.24	0.21308	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-13.8048	15.4766	0.75485	0.6152:0.3848:0.0:0.0	.	.	.	.	X	211	.	ENSP00000264839:R211X	R	+	1	2	RIMS1	72946158	0.148000	0.22702	0.638000	0.29380	0.953000	0.61014	0.443000	0.21644	0.282000	0.22254	-0.182000	0.12963	CGA		0.567	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			19	39	0	0	0	1	0	19	39				
GAS2L2	246176	broad.mit.edu	37	17	34074958	34074958	+	Missense_Mutation	SNP	G	G	A	rs587627832		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:34074958G>A	ENST00000254466.6	-	4	769	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R232W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	248	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACATGGTTCCGGAGGATCTGA	0.642											OREG0024328	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		17393	0.0		0.0	False		,,,				2504	0.001					ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(742-744)Cgg>Tgg		growth arrest-specific 2 like 2							85.0	64.0	71.0					17																	34074958		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074958G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.742C>T	17.37:g.34074958G>A	ENSP00000254466:p.Arg248Trp		OREG0024328	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	844	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R232W	p.R248W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	769	-		Ovarian(249;0.17)	248			GAR.		Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.742C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425536	0.83667	.	.	ENSG00000132139	ENST00000254466	T	0.27557	1.66	5.92	3.75	0.43078	Growth-arrest-specific protein 2 domain (4);	0.000000	0.64402	D	0.000001	T	0.63792	0.2541	M	0.91717	3.235	0.50632	D	0.999886	D	0.89917	1.0	D	0.97110	1.0	T	0.75722	-0.3218	10	0.87932	D	0	-33.878	15.9855	0.80147	0.0:0.0:0.7445:0.2555	.	248	Q8NHY3	GA2L2_HUMAN	W	248	ENSP00000254466:R248W	ENSP00000254466:R248W	R	-	1	2	GAS2L2	31099071	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.857000	0.48349	1.491000	0.48482	0.655000	0.94253	CGG		0.642	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		5	24	0	0	0	1	0	5	24				
OR51T1	401665	broad.mit.edu	37	11	4903844	4903844	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:4903844G>T	ENST00000322049.1	+	1	715	c.715G>T	c.(715-717)Gct>Tct	p.A239S	OR51T1_ENST00000380378.1_Missense_Mutation_p.A266S|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAACAAAAAGCTCTCAGCAC	0.488																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(796-798)Gct>Tct		olfactory receptor, family 51, subfamily T, member 1							88.0	75.0	79.0					11																	4903844		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903844G>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.715G>T	11.37:g.4903844G>T	ENSP00000322679:p.Ala239Ser					MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.A239S|MMP26_ENST00000380390.1_Intron	p.A266S	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	796	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	239					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.796G>T		.	.	.	.	.	.	.	.	.	.	G	21.4	4.138921	0.77775	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.45668	0.89;0.89	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000519	T	0.69251	0.3090	M	0.86805	2.84	0.42755	D	0.993786	D	0.76494	0.999	D	0.83275	0.996	T	0.74725	-0.3568	10	0.54805	T	0.06	.	16.6843	0.85301	0.0:0.0:1.0:0.0	.	239	Q8NGJ9	O51T1_HUMAN	S	266;239	ENSP00000369738:A266S;ENSP00000322679:A239S	ENSP00000322679:A239S	A	+	1	0	OR51T1	4860420	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.467000	0.45093	2.519000	0.84933	0.484000	0.47621	GCT		0.488	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		7	28	1	0	2.0095e-06	1	2.03088e-06	7	28				
ANKRD7	56311	broad.mit.edu	37	7	117874919	117874919	+	Silent	SNP	G	G	A	rs539928890	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:117874919G>A	ENST00000265224.4	+	3	614	c.459G>A	c.(457-459)gcG>gcA	p.A153A	ANKRD7_ENST00000357099.4_Silent_p.A173A|ANKRD7_ENST00000417525.1_Silent_p.A100A|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Silent_p.A100A	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	153					male gonad development (GO:0008584)	nucleus (GO:0005634)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						ATCTTGAAGCGAAAAATAAGG	0.299													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17508	0.0		0.0	False		,,,				2504	0.0					ENST00000357099.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(517-519)gcG>gcA		ankyrin repeat domain 7							92.0	81.0	84.0					7																	117874919		1816	4074	5890	SO:0001819	synonymous_variant	56311				male gonad development			g.chr7:117874919G>A	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.459G>A	7.37:g.117874919G>A						ANKRD7_ENST00000433239.1_Silent_p.A100A|ANKRD7_ENST00000265224.4_Silent_p.A153A|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000417525.1_Silent_p.A100A	p.A173A			Q92527	ANKR7_HUMAN			4	692	+			153					B4DYF5|Q96QN1|Q9UDM3	Silent	SNP	ENST00000265224.4	37	c.519G>A	CCDS43638.1																																																																																				0.299	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		5	44	0	0	0	1	0	5	44				
ACAA2	10449	broad.mit.edu	37	18	47329202	47329202	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr18:47329202T>C	ENST00000285093.10	-	2	513	c.38A>G	c.(37-39)aAg>aGg	p.K13R	ACAA2_ENST00000589432.1_5'UTR|RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000587994.1_Missense_Mutation_p.K10R	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	13					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						GGGCGTTCGCTTAGCAGCAAC	0.448																																						ENST00000285093.10																			0				large_intestine(2)|lung(7)|ovary(1)	10						c.(37-39)aAg>aGg		acetyl-CoA acyltransferase 2							98.0	90.0	93.0					18																	47329202		2203	4300	6503	SO:0001583	missense	10449				anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding	g.chr18:47329202T>C	D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"""mitochondrial 3-oxoacyl-Coenzyme A thiolase"""	604770	"""acetyl-Coenzyme A acyltransferase 2"""			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.38A>G	18.37:g.47329202T>C	ENSP00000285093:p.Lys13Arg					RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000589432.1_5'UTR|ACAA2_ENST00000587994.1_Missense_Mutation_p.K10R	p.K13R	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN			2	513	-			13					Q9BUT6	Missense_Mutation	SNP	ENST00000285093.10	37	c.38A>G	CCDS11939.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712669	0.89112	.	.	ENSG00000167315	ENST00000285093	D	0.94417	-3.42	5.64	5.64	0.86602	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.96430	0.8835	M	0.64630	1.985	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.968	D	0.96359	0.9264	10	0.49607	T	0.09	-24.1257	15.535	0.75996	0.0:0.0:0.0:1.0	.	13;13	B2RB23;P42765	.;THIM_HUMAN	R	13	ENSP00000285093:K13R	ENSP00000285093:K13R	K	-	2	0	ACAA2	45583200	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.911000	0.87458	2.149000	0.67028	0.533000	0.62120	AAG		0.448	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255921.2	NM_006111		30	26	0	0	0	1	0	30	26				
TTLL4	9654	broad.mit.edu	37	2	219602960	219602960	+	Silent	SNP	G	G	A	rs528979213		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:219602960G>A	ENST00000392102.1	+	3	901	c.561G>A	c.(559-561)gcG>gcA	p.A187A	TTLL4_ENST00000258398.4_Silent_p.A187A|TTLL4_ENST00000457313.1_Silent_p.A22A|TTLL4_ENST00000442769.1_Silent_p.A187A	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	187					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GCTTGGCAGCGGCTGGGGAAA	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18648	0.0		0.0	False		,,,				2504	0.0				GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(559-561)gcG>gcA		tubulin tyrosine ligase-like family, member 4							81.0	84.0	83.0					2																	219602960		2203	4300	6503	SO:0001819	synonymous_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219602960G>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.561G>A	2.37:g.219602960G>A						TTLL4_ENST00000258398.4_Silent_p.A187A|TTLL4_ENST00000457313.1_Silent_p.A22A|TTLL4_ENST00000442769.1_Silent_p.A187A	p.A187A	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	901	+		Renal(207;0.0915)	187					A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	c.561G>A	CCDS2422.1																																																																																				0.542	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		47	55	0	0	0	1	0	47	55				
ZKSCAN8	7745	broad.mit.edu	37	6	28121482	28121482	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr6:28121482C>A	ENST00000330236.6	+	6	1608	c.1424C>A	c.(1423-1425)tCa>tAa	p.S475*	ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.S475*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	475					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGGCGGAGCTCACATCTTATT	0.498																																						ENST00000330236.6																			0											c.(1423-1425)tCa>tAa		zinc finger with KRAB and SCAN domains 8							50.0	51.0	50.0					6																	28121482		2203	4300	6503	SO:0001587	stop_gained	0							g.chr6:28121482C>A		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.1424C>A	6.37:g.28121482C>A	ENSP00000332750:p.Ser475*					ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.S475*	p.S475*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2					6	1608	+								A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Nonsense_Mutation	SNP	ENST00000330236.6	37	c.1424C>A	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	C	38	6.719108	0.97788	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	.	.	.	5.99	5.99	0.97316	.	0.000000	0.47455	D	0.000234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2427	0.60006	0.0:0.9239:0.0:0.0761	.	.	.	.	X	475	.	ENSP00000332750:S475X	S	+	2	0	ZNF192	28229461	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.290000	0.18975	2.853000	0.98044	0.655000	0.94253	TCA		0.498	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			21	28	1	0	3.51602e-12	1	3.59163e-12	21	28				
MED12	9968	broad.mit.edu	37	X	70352986	70352986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:70352986G>A	ENST00000374080.3	+	33	4573	c.4541G>A	c.(4540-4542)tGg>tAg	p.W1514*	MED12_ENST00000374102.1_Nonsense_Mutation_p.W1514*|MED12_ENST00000333646.6_Nonsense_Mutation_p.W1514*			Q93074	MED12_HUMAN	mediator complex subunit 12	1514					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTGAATAATTGGCGAGATGAC	0.438			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(4540-4542)tGg>tAg		mediator complex subunit 12							109.0	99.0	102.0					X																	70352986		1936	4125	6061	SO:0001587	stop_gained	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70352986G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4541G>A	X.37:g.70352986G>A	ENSP00000363193:p.Trp1514*					MED12_ENST00000374080.3_Nonsense_Mutation_p.W1514*|MED12_ENST00000374102.1_Nonsense_Mutation_p.W1514*|MED12_ENST00000478889.1_Intron	p.W1514*	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			33	4740	+	Renal(35;0.156)		1514					O15410|O75557|Q9UHV6|Q9UND7	Nonsense_Mutation	SNP	ENST00000374080.3	37	c.4541G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	G	45	11.760762	0.99599	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-8.1974	16.5733	0.84630	0.0:0.0:1.0:0.0	.	.	.	.	X	1514;1514;1514;1514;1482;259	.	ENSP00000333125:W1514X	W	+	2	0	MED12	70269711	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.343000	0.97047	2.279000	0.76181	0.476000	0.43555	TGG		0.438	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		22	34	0	0	0	1	0	22	34				
AP4E1	23431	broad.mit.edu	37	15	51240332	51240332	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr15:51240332G>A	ENST00000261842.5	+	11	1398	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	AP4E1_ENST00000560508.1_Missense_Mutation_p.G356D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	431					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AATTTGGTCGGCAAAATAGCA	0.338																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(1291-1293)gGc>gAc		adaptor-related protein complex 4, epsilon 1 subunit							105.0	102.0	103.0					15																	51240332		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51240332G>A	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1292G>A	15.37:g.51240332G>A	ENSP00000261842:p.Gly431Asp					AP4E1_ENST00000560508.1_Missense_Mutation_p.G356D	p.G431D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	11	1398	+			431					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.1292G>A	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144876	0.77888	.	.	ENSG00000081014	ENST00000261842	T	0.23552	1.9	5.78	5.78	0.91487	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.413135	0.27567	N	0.018787	T	0.45617	0.1351	L	0.60455	1.87	0.80722	D	1	D	0.67145	0.996	P	0.62298	0.9	T	0.06320	-1.0833	10	0.25751	T	0.34	1.9094	19.0086	0.92863	0.0:0.0:1.0:0.0	.	431	Q9UPM8	AP4E1_HUMAN	D	431	ENSP00000261842:G431D	ENSP00000261842:G431D	G	+	2	0	AP4E1	49027624	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.729000	0.93468	0.650000	0.86243	GGC		0.338	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			3	50	0	0	0	1	0	3	50				
FANCA	2175	broad.mit.edu	37	16	89813023	89813023	+	Missense_Mutation	SNP	G	G	A	rs142833057	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr16:89813023G>A	ENST00000389301.3	-	35	3512	c.3482C>T	c.(3481-3483)aCg>aTg	p.T1161M	FANCA_ENST00000568369.1_Missense_Mutation_p.T1161M	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1161					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T1161M(2)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGGCATTTCGTCTGGCACTT	0.567			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			2	Substitution - Missense(2)	p.T1161M(2)	lung(1)|endometrium(1)	breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(3481-3483)aCg>aTg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A		G	MET/THR	0,4396		0,0,2198	89.0	82.0	84.0		3482	3.1	0.1	16	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	FANCA	NM_000135.2	81	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1161/1456	89813023	1,12995	2198	4300	6498	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89813023G>A	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3482C>T	16.37:g.89813023G>A	ENSP00000373952:p.Thr1161Met					FANCA_ENST00000568369.1_Missense_Mutation_p.T1161M	p.T1161M	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	35	3512	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1161					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.3482C>T	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618437	0.28801	0.0	1.16E-4	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.85484	-1.99	5.05	3.07	0.35406	.	0.413038	0.22913	N	0.054102	D	0.89966	0.6868	M	0.76002	2.32	0.48901	D	0.999726	B;D;D	0.89917	0.081;1.0;1.0	B;D;D	0.64506	0.013;0.926;0.926	D	0.88801	0.3285	10	0.66056	D	0.02	-9.444	10.0442	0.42177	0.0762:0.1373:0.7865:0.0	.	138;1161;1161	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	M	1161;138	ENSP00000373952:T1161M	ENSP00000306281:T138M	T	-	2	0	FANCA	88340524	0.679000	0.27596	0.134000	0.22075	0.002000	0.02628	1.510000	0.35790	0.525000	0.28522	-0.224000	0.12420	ACG		0.567	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			9	38	0	0	0	1	0	9	38				
RANBP17	64901	broad.mit.edu	37	5	170692729	170692729	+	Missense_Mutation	SNP	G	G	A	rs141341938	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:170692729G>A	ENST00000523189.1	+	25	2985	c.2821G>A	c.(2821-2823)Gtc>Atc	p.V941I	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	941					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGACTACATCGTCACCTACCT	0.418			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2821-2823)Gtc>Atc		RAN binding protein 17		G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	119.0	118.0	118.0		2821	3.8	1.0	5	dbSNP_134	118	0,8600		0,0,4300	yes	missense	RANBP17	NM_022897.3	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	941/1089	170692729	3,13003	2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170692729G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2821G>A	5.37:g.170692729G>A	ENSP00000427975:p.Val941Ile					RANBP17_ENST00000521759.1_3'UTR	p.V941I	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		25	2985	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	941					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.2821G>A	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956418	0.73902	6.81E-4	0.0	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.66460	-0.21	5.67	3.85	0.44370	Armadillo-like helical (1);Armadillo-type fold (1);	0.205268	0.33895	N	0.004452	T	0.62109	0.2401	L	0.58428	1.81	0.35794	D	0.822647	D	0.60160	0.987	P	0.45449	0.481	T	0.67035	-0.5772	10	0.30854	T	0.27	-5.7438	9.4438	0.38684	0.076:0.1439:0.7801:0.0	.	941	Q9H2T7	RBP17_HUMAN	I	941;371	ENSP00000427975:V941I	ENSP00000427975:V941I	V	+	1	0	RANBP17	170625334	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.554000	0.45845	0.823000	0.34589	0.561000	0.74099	GTC		0.418	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		24	97	0	0	0	1	0	24	97				
CPSF3	51692	broad.mit.edu	37	2	9574027	9574027	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:9574027C>A	ENST00000238112.3	+	6	753	c.547C>A	c.(547-549)Caa>Aaa	p.Q183K	CPSF3_ENST00000460593.1_Missense_Mutation_p.Q146K	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	183					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTTCTCAAGACAAGAAGATAG	0.308																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(436-438)Caa>Aaa		cleavage and polyadenylation specific factor 3, 73kDa							90.0	98.0	95.0					2																	9574027		2203	4299	6502	SO:0001583	missense	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9574027C>A	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.547C>A	2.37:g.9574027C>A	ENSP00000238112:p.Gln183Lys					CPSF3_ENST00000238112.3_Missense_Mutation_p.Q183K	p.Q146K			Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	6	1574	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	183					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.436C>A	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105405	0.77096	.	.	ENSG00000119203	ENST00000238112;ENST00000427001;ENST00000460593	T;T	0.79845	-1.31;-1.31	5.72	5.72	0.89469	Beta-lactamase-like (2);	0.058434	0.64402	D	0.000002	T	0.77103	0.4081	L	0.41710	1.295	0.80722	D	1	P;B	0.35139	0.486;0.028	B;B	0.36030	0.216;0.103	T	0.74948	-0.3490	10	0.38643	T	0.18	-23.3735	19.8709	0.96851	0.0:1.0:0.0:0.0	.	183;183	E7ER23;Q9UKF6	.;CPSF3_HUMAN	K	183;183;146	ENSP00000238112:Q183K;ENSP00000418957:Q146K	ENSP00000238112:Q183K	Q	+	1	0	CPSF3	9491478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.698000	0.92095	0.591000	0.81541	CAA		0.308	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		27	43	1	0	8.58068e-18	1	8.95786e-18	27	43				
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		23	Substitution - Missense(23)	p.A289V(20)|p.A289D(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V	p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1043	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		912	374	0	0	0	1	0	912	374				
ANO1	55107	broad.mit.edu	37	11	70011580	70011580	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:70011580C>T	ENST00000355303.5	+	20	2260	c.1955C>T	c.(1954-1956)gCg>gTg	p.A652V	ANO1_ENST00000531349.1_Missense_Mutation_p.A361V|ANO1_ENST00000538023.1_Missense_Mutation_p.A652V|ANO1_ENST00000530676.1_Missense_Mutation_p.A506V|ANO1_ENST00000398543.2_Missense_Mutation_p.A506V	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	652					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CCACAGTGTGCGCCAGGGGGC	0.607																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(1954-1956)gCg>gTg		anoctamin 1, calcium activated chloride channel							33.0	34.0	34.0					11																	70011580		2114	4235	6349	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70011580C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1955C>T	11.37:g.70011580C>T	ENSP00000347454:p.Ala652Val					ANO1_ENST00000538023.1_Missense_Mutation_p.A652V|ANO1_ENST00000531349.1_Missense_Mutation_p.A361V|ANO1_ENST00000530676.1_Missense_Mutation_p.A506V|ANO1_ENST00000398543.2_Missense_Mutation_p.A506V	p.A652V	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			20	2260	+			652					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1955C>T	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091060	0.55968	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	3.73	3.73	0.42828	.	0.125565	0.53938	D	0.000057	T	0.74779	0.3761	M	0.72624	2.21	0.80722	D	1	P;D	0.67145	0.941;0.996	P;P	0.61477	0.529;0.889	T	0.77539	-0.2550	9	.	.	.	.	15.913	0.79485	0.0:1.0:0.0:0.0	.	361;652	E9PNA7;Q5XXA6	.;ANO1_HUMAN	V	652;652;506;410;506;361	ENSP00000347454:A652V;ENSP00000444689:A652V;ENSP00000381551:A506V;ENSP00000435797:A506V;ENSP00000432843:A361V	.	A	+	2	0	ANO1	69689228	1.000000	0.71417	0.639000	0.29394	0.038000	0.13279	7.527000	0.81931	1.822000	0.53115	0.561000	0.74099	GCG		0.607	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		6	2	0	0	0	1	0	6	2				
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(631-636)cgg>cg		CD3e molecule, epsilon associated protein			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000423698.2_3'UTR	p.RK211del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	211					Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		7	154						7	154	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46351096	46351096	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:46351096C>T	ENST00000245934.7	-	7	834	c.590G>A	c.(589-591)cGc>cAc	p.R197H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	197					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GTCAGCCATGCGGGGTGACAG	0.577																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(589-591)cGc>cAc		symplekin							104.0	87.0	93.0					19																	46351096		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46351096C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.590G>A	19.37:g.46351096C>T	ENSP00000245934:p.Arg197His						p.R197H	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	7	834	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	197					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.590G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939173	0.92526	.	.	ENSG00000125755	ENST00000245934	T	0.33438	1.41	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.83275	0.805;0.996	T	0.36286	-0.9754	10	0.46703	T	0.11	.	16.9498	0.86242	0.0:1.0:0.0:0.0	.	212;197	Q4LE61;Q92797	.;SYMPK_HUMAN	H	197	ENSP00000245934:R197H	ENSP00000245934:R197H	R	-	2	0	SYMPK	51042936	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	7.170000	0.77587	2.854000	0.98071	0.655000	0.94253	CGC		0.577	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		3	44	0	0	0	1	0	3	44				
RP13-228J13.1	0	broad.mit.edu	37	X	154578865	154578865	+	RNA	DEL	G	G	-	rs150846040|rs563910	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:154578865delG	ENST00000412436.1	-	0	98				RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA																							TTTTCTCTCTGTTTTTTTTTT	0.418																																						ENST00000412436.1																			0																																																			0							g.chrX:154578865delG																													X.37:g.154578865delG						RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA								0	98	-									RNA	DEL	ENST00000412436.1	37																																																																																						0.418	RP13-228J13.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000058799.1			3	6						3	6	---	---	---	---
