#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
CCDC178	374864	broad.mit.edu	37	18	30913136	30913136	+	Splice_Site	SNP	A	A	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr18:30913136A>T	ENST00000383096.3	-	10	1062		c.e10+1		CCDC178_ENST00000406524.2_Splice_Site|CCDC178_ENST00000402325.1_Splice_Site|CCDC178_ENST00000583930.1_Splice_Site|CCDC178_ENST00000579947.1_Splice_Site|CCDC178_ENST00000403303.1_Splice_Site|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Splice_Site			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178																		TCGTTTATTTACCTCCATTTT	0.308																																						ENST00000383096.3																			0											c.e10+1		coiled-coil domain containing 178							80.0	78.0	79.0					18																	30913136		2203	4300	6503	SO:0001630	splice_region_variant	374864							g.chr18:30913136A>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.879+1T>A	18.37:g.30913136A>T						CCDC178_ENST00000579947.1_Splice_Site|CCDC178_ENST00000300227.8_Splice_Site|CCDC178_ENST00000583930.1_Splice_Site|CCDC178_ENST00000406524.2_Splice_Site|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Splice_Site|CCDC178_ENST00000403303.1_Splice_Site								10	1062	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Splice_Site	SNP	ENST00000383096.3	37		CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430293	0.25726	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9517	0.52959	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C18orf34	29167134	1.000000	0.71417	0.994000	0.49952	0.075000	0.17131	5.104000	0.64584	2.138000	0.66242	0.455000	0.32223	.		0.308	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	Intron	7	27	0	0	0	1	0	7	27				
ZAN	7455	broad.mit.edu	37	7	100334606	100334606	+	RNA	SNP	G	G	A	rs529432579		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr7:100334606G>A	ENST00000348028.3	+	0	593				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAAGAGGGCCGCCGCCCCGAT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		12132	0.001		0.0	False		,,,				2504	0.0					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							7.0	9.0	9.0					7																	100334606		1917	3871	5788			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100334606G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334606G>A						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	576	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	16.90	3.249341	0.59103	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02236	4.38;4.38;4.38	4.15	-8.17	0.01057	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	2.294350	0.02163	N	0.058939	T	0.01222	0.0040	N	0.04959	-0.14	0.09310	N	0.999999	B;B	0.11235	0.003;0.004	B;B	0.06405	0.001;0.002	T	0.48139	-0.9061	10	0.66056	D	0.02	.	3.961	0.09410	0.2075:0.142:0.5106:0.1399	.	143;143	F5H0T8;Q9Y493	.;ZAN_HUMAN	H	143	ENSP00000445943:R143H;ENSP00000445091:R143H;ENSP00000444427:R143H	ENSP00000423579:R143H	R	+	2	0	ZAN	100172542	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.764000	0.04735	-1.396000	0.02071	-0.459000	0.05422	CGC		0.657	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	16	0	0	0	1	0	4	16				
PAEP	5047	broad.mit.edu	37	9	138457640	138457640	+	Missense_Mutation	SNP	G	G	A	rs143616209|rs537242473	byFrequency	TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr9:138457640G>A	ENST00000479141.1	+	6	580	c.536G>A	c.(535-537)cGt>cAt	p.R179H	PAEP_ENST00000277508.5_Missense_Mutation_p.R179H|PAEP_ENST00000371766.2_Missense_Mutation_p.R179H	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	179					multicellular organismal development (GO:0007275)|transport (GO:0006810)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GAGCCGTGCCGTTTCTAGGTG	0.617													.|||	4	0.000798722	0.0	0.0	5008	,	,		18967	0.001		0.003	False		,,,				2504	0.0					ENST00000479141.1																			0				cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						c.(535-537)cGt>cAt		progestagen-associated endometrial protein		G	HIS/ARG,HIS/ARG	7,4399	12.9+/-30.5	0,7,2196	172.0	172.0	172.0		536,536	-1.9	0.0	9	dbSNP_134	172	36,8564	24.6+/-71.5	0,36,4264	yes	missense,missense	PAEP	NM_001018049.1,NM_002571.2	29,29	0,43,6460	AA,AG,GG		0.4186,0.1589,0.3306	benign,benign	179/181,179/181	138457640	43,12963	2203	4300	6503	SO:0001583	missense	5047				multicellular organismal development	extracellular region	binding|transporter activity	g.chr9:138457640G>A		CCDS35173.1	9q34	2011-11-15	2008-07-31		ENSG00000122133	ENSG00000122133		"""Lipocalins"""	8573	protein-coding gene	gene with protein product	"""glycodelin-A"", ""glycodelin-S"", ""glycodelin-F"", ""progesterone-associated endometrial protein"", ""glycodelin"", ""PP14 protein (placental protein 14)"", ""pregnancy-associated endometrial alpha-2-globulin"", ""alpha uterine protein"""	173310				3320533, 2016092	Standard	XM_005263405		Approved	PEP, PP14, GdA, GdS, GdF, PAEG, GD, MGC138509, MGC142288	uc004cgd.1	P09466	OTTHUMG00000020914	ENST00000479141.1:c.536G>A	9.37:g.138457640G>A	ENSP00000417898:p.Arg179His					PAEP_ENST00000277508.5_Missense_Mutation_p.R179H|PAEP_ENST00000371766.2_Missense_Mutation_p.R179H	p.R179H	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	6	580	+			179					Q5T6T1|Q9UG92	Missense_Mutation	SNP	ENST00000479141.1	37	c.536G>A	CCDS35173.1	4	0.0018315018315018315	0	0.0	0	0.0	1	0.0017482517482517483	3	0.00395778364116095	G	0.193	-1.051438	0.01981	0.001589	0.004186	ENSG00000122133	ENST00000479141;ENST00000371767;ENST00000371766;ENST00000277508;ENST00000418284	T;T;T;T	0.58358	1.76;1.76;1.76;0.34	0.967	-1.93	0.07594	Calycin-like (1);Calycin (1);	.	.	.	.	T	0.29288	0.0729	L	0.34521	1.04	0.09310	N	1	B;B;B	0.28850	0.0;0.004;0.225	B;B;B	0.20184	0.0;0.0;0.028	T	0.14172	-1.0482	9	0.17369	T	0.5	.	0.7307	0.00956	0.2411:0.2017:0.3564:0.2008	.	157;142;179	P09466-2;A6XNE0;P09466	.;.;PAEP_HUMAN	H	179;144;179;179;131	ENSP00000417898:R179H;ENSP00000360831:R179H;ENSP00000277508:R179H;ENSP00000401933:R131H	ENSP00000277508:R179H	R	+	2	0	PAEP	137597461	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.215000	0.02985	-3.000000	0.00276	-1.857000	0.00563	CGT		0.617	PAEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055010.1	NM_001018049		5	256	0	0	0	1	0	5	256				
GBF1	8729	broad.mit.edu	37	10	104140384	104140384	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr10:104140384G>A	ENST00000369983.3	+	38	5371	c.5111G>A	c.(5110-5112)cGc>cAc	p.R1704H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1704					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R1704H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACCTGGGAACGCATTGACTGT	0.557																																						ENST00000369983.3																			1	Substitution - Missense(1)	p.R1704H(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(5110-5112)cGc>cAc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							256.0	279.0	271.0					10																	104140384		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140384G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5111G>A	10.37:g.104140384G>A	ENSP00000359000:p.Arg1704His						p.R1704H	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	38	5371	+		Colorectal(252;0.0236)	1704					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.5111G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147268	0.94603	.	.	ENSG00000107862	ENST00000369983	T	0.13778	2.56	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.986;0.987	T	0.00617	-1.1642	10	0.39692	T	0.17	-14.0455	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1700;1700;1704	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	1704	ENSP00000359000:R1704H	ENSP00000359000:R1704H	R	+	2	0	GBF1	104130374	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.692000	0.98682	2.793000	0.96121	0.655000	0.94253	CGC		0.557	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			5	329	0	0	0	1	0	5	329				
KIAA1549L	25758	broad.mit.edu	37	11	33589732	33589732	+	Missense_Mutation	SNP	C	C	T	rs140561197		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr11:33589732C>T	ENST00000321505.4	+	8	3478	c.3298C>T	c.(3298-3300)Cgg>Tgg	p.R1100W	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.R1106W|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1106W			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1100						integral component of membrane (GO:0016021)		p.R1100R(1)|p.R1106R(1)									ACAAGGCCGGCGGTTTAAACG	0.582																																						ENST00000321505.4																			2	Substitution - coding silent(2)	p.R1100R(1)|p.R1106R(1)	kidney(2)								c.(3298-3300)Cgg>Tgg		KIAA1549-like							35.0	37.0	36.0					11																	33589732		1963	4134	6097	SO:0001583	missense	25758							g.chr11:33589732C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3298C>T	11.37:g.33589732C>T	ENSP00000315295:p.Arg1100Trp					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1106W|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.R1106W	p.R1100W							8	3478	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3298C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148690	0.78001	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.44	2.27	0.28462	.	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.79475	2.455	0.34044	D	0.655315	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83445	0.0045	9	0.87932	D	0	-22.9457	13.9043	0.63823	0.5268:0.4732:0.0:0.0	.	1106;1106	E9PAT2;Q6ZVL6-2	.;.	W	1100;1106;1106;939	.	ENSP00000265654:R1106W	R	+	1	2	C11orf41	33546308	0.979000	0.34478	1.000000	0.80357	0.998000	0.95712	0.948000	0.29096	0.576000	0.29452	0.555000	0.69702	CGG		0.582	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		12	13	0	0	0	1	0	12	13				
SLC34A1	6569	broad.mit.edu	37	5	176814873	176814873	+	Splice_Site	SNP	C	C	T	rs577273266		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr5:176814873C>T	ENST00000324417.5	+	6	734	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	SLC34A1_ENST00000512593.1_Splice_Site_p.R215W	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	215					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACTTCCGGCGGTGAGGGGG	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		8938	0.0		0.0	False		,,,				2504	0.0					ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.e6+1		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							27.0	26.0	26.0					5																	176814873		2202	4300	6502	SO:0001630	splice_region_variant	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176814873C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.644+1C>T	5.37:g.176814873C>T						SLC34A1_ENST00000512593.1_Splice_Site_p.R215_splice	p.R215_splice	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	734	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	215					B4DPE3	Splice_Site	SNP	ENST00000324417.5	37	c.644_splice	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635969	0.67130	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	D;D	0.86497	-2.13;-2.13	5.13	2.08	0.27032	.	0.057897	0.64402	D	0.000003	D	0.94732	0.8300	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94864	0.8024	10	0.87932	D	0	-10.6021	10.8652	0.46851	0.3163:0.5851:0.0986:0.0	.	215	Q06495	NPT2A_HUMAN	W	215	ENSP00000423022:R215W;ENSP00000321424:R215W	ENSP00000321424:R215W	R	+	1	2	SLC34A1	176747479	0.122000	0.22280	1.000000	0.80357	0.982000	0.71751	0.553000	0.23391	1.134000	0.42165	0.555000	0.69702	CGG		0.667	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052	Missense_Mutation	14	22	0	0	0	1	0	14	22				
FAT4	79633	broad.mit.edu	37	4	126319977	126319977	+	Silent	SNP	A	A	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr4:126319977A>T	ENST00000394329.3	+	2	5227	c.5214A>T	c.(5212-5214)ccA>ccT	p.P1738P	FAT4_ENST00000335110.5_Silent_p.P36P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1738	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAATCCACCAGTATTTCCAA	0.428																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(5212-5214)ccA>ccT		FAT atypical cadherin 4							188.0	174.0	179.0					4																	126319977		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126319977A>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5214A>T	4.37:g.126319977A>T						FAT4_ENST00000335110.5_Silent_p.P36P	p.P1738P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			2	5227	+			1738			Cadherin 16.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.5214A>T	CCDS3732.3																																																																																				0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		50	79	0	0	0	1	0	50	79				
FAHD2B	151313	broad.mit.edu	37	2	97757244	97757244	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr2:97757244G>A	ENST00000414820.1	-	3	470	c.200C>T	c.(199-201)aCg>aTg	p.T67M	FAHD2B_ENST00000272610.3_Missense_Mutation_p.T67M|FAHD2B_ENST00000440566.2_Missense_Mutation_p.T67M|FAHD2B_ENST00000468548.1_Intron			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	67							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						TAGGAACTGCGTCATCGTCTT	0.607																																						ENST00000414820.1																			0				kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						c.(199-201)aCg>aTg		fumarylacetoacetate hydrolase domain containing 2B							79.0	71.0	73.0					2																	97757244		2203	4299	6502	SO:0001583	missense	151313						hydrolase activity|metal ion binding	g.chr2:97757244G>A		CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.200C>T	2.37:g.97757244G>A	ENSP00000410470:p.Thr67Met					FAHD2B_ENST00000468548.1_Intron|FAHD2B_ENST00000440566.2_Missense_Mutation_p.T67M|FAHD2B_ENST00000272610.3_Missense_Mutation_p.T67M	p.T67M			Q6P2I3	FAH2B_HUMAN			3	470	-			67					D3DXH7|Q8NDK1	Missense_Mutation	SNP	ENST00000414820.1	37	c.200C>T	CCDS2030.1	.	.	.	.	.	.	.	.	.	.	g	6.969	0.548820	0.13312	.	.	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	T;T;T	0.30981	1.51;1.51;1.51	0.707	-1.21	0.09524	.	0.387001	0.25948	N	0.027278	T	0.14313	0.0346	N	0.24115	0.695	0.21527	N	0.999654	B	0.06786	0.001	B	0.04013	0.001	T	0.08868	-1.0701	10	0.41790	T	0.15	.	2.2337	0.04002	0.4088:0.3128:0.2784:0.0	.	67	Q6P2I3	FAH2B_HUMAN	M	67	ENSP00000410470:T67M;ENSP00000272610:T67M;ENSP00000444599:T67M	ENSP00000272610:T67M	T	-	2	0	FAHD2B	97120971	0.998000	0.40836	0.775000	0.31657	0.259000	0.26198	0.866000	0.27954	-0.387000	0.07809	0.162000	0.16502	ACG		0.607	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1	NM_199336		15	25	0	0	0	1	0	15	25				
SLC12A5	57468	broad.mit.edu	37	20	44674562	44674562	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr20:44674562C>T	ENST00000454036.2	+	13	1733	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L539F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	562					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGGCCCTGCTCCTGACTGC	0.587																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1684-1686)Ctc>Ttc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						115.0	98.0	104.0					20																	44674562		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44674562C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1684C>T	20.37:g.44674562C>T	ENSP00000387694:p.Leu562Phe					SLC12A5_ENST00000539566.1_Silent_p.C185C|SLC12A5_ENST00000243964.3_Missense_Mutation_p.L539F	p.L562F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			13	1760	+		Myeloproliferative disorder(115;0.0122)	562					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1684C>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318610	0.81469	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.99014	-5.33;-5.33	4.46	4.46	0.54185	Amino acid permease domain (1);	0.000000	0.64402	D	0.000018	D	0.98131	0.9383	L	0.52364	1.645	0.80722	D	1	P;B	0.40032	0.699;0.434	P;B	0.46339	0.513;0.328	D	0.98720	1.0708	10	0.45353	T	0.12	.	15.858	0.79000	0.0:1.0:0.0:0.0	.	562;539	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	F	562;539	ENSP00000387694:L562F;ENSP00000243964:L539F	ENSP00000243964:L539F	L	+	1	0	SLC12A5	44107969	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.796000	0.62496	2.317000	0.78254	0.563000	0.77884	CTC		0.587	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			5	81	0	0	0	1	0	5	81				
PTPRM	5797	broad.mit.edu	37	18	8143703	8143703	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr18:8143703A>C	ENST00000332175.8	+	14	3263	c.2226A>C	c.(2224-2226)aaA>aaC	p.K742N	PTPRM_ENST00000400053.4_Missense_Mutation_p.K680N|PTPRM_ENST00000444013.1_Missense_Mutation_p.K529N|PTPRM_ENST00000400060.4_Missense_Mutation_p.K742N|PTPRM_ENST00000580170.1_Missense_Mutation_p.K742N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	742					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ATACAGTTAAAATTGCTGGAG	0.448																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(2224-2226)aaA>aaC		protein tyrosine phosphatase, receptor type, M							158.0	154.0	156.0					18																	8143703		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8143703A>C	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2226A>C	18.37:g.8143703A>C	ENSP00000331418:p.Lys742Asn					PTPRM_ENST00000400053.4_Missense_Mutation_p.K680N|PTPRM_ENST00000400060.4_Missense_Mutation_p.K742N|PTPRM_ENST00000580170.1_Missense_Mutation_p.K742N|PTPRM_ENST00000444013.1_Missense_Mutation_p.K529N	p.K742N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			14	3263	+		Colorectal(10;0.234)	742					A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.2226A>C	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308041	0.60305	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.50001	1.05;1.11;0.91;0.76	5.92	1.74	0.24563	.	0.051009	0.85682	D	0.000000	T	0.59197	0.2176	M	0.65498	2.005	0.44241	D	0.997082	D;D;D	0.71674	0.984;0.998;0.998	P;D;D	0.76071	0.811;0.987;0.987	T	0.55386	-0.8149	10	0.18276	T	0.48	.	9.7866	0.40679	0.7439:0.0:0.2561:0.0	.	529;742;742	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	N	742;742;680;529	ENSP00000331418:K742N;ENSP00000382933:K742N;ENSP00000382927:K680N;ENSP00000387608:K529N	ENSP00000331418:K742N	K	+	3	2	PTPRM	8133703	1.000000	0.71417	0.971000	0.41717	0.991000	0.79684	1.534000	0.36051	0.460000	0.27045	0.533000	0.62120	AAA		0.448	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			51	54	0	0	0	1	0	51	54				
TUBGCP3	10426	broad.mit.edu	37	13	113143999	113143999	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr13:113143999C>T	ENST00000261965.3	-	21	2647	c.2461G>A	c.(2461-2463)Gtg>Atg	p.V821M		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	821					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GCTGCCGTCACTCCCCACTGG	0.418																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(2461-2463)Gtg>Atg		tubulin, gamma complex associated protein 3							157.0	138.0	145.0					13																	113143999		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113143999C>T	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2461G>A	13.37:g.113143999C>T	ENSP00000261965:p.Val821Met						p.V821M	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			21	2647	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		821					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.2461G>A	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203876	0.38905	.	.	ENSG00000126216	ENST00000261965	T	0.25749	1.78	5.26	4.4	0.53042	.	0.112167	0.64402	N	0.000012	T	0.20820	0.0501	L	0.31926	0.97	0.80722	D	1	B;B	0.18968	0.032;0.017	B;B	0.22601	0.04;0.04	T	0.03651	-1.1016	10	0.27785	T	0.31	-23.9601	14.1688	0.65495	0.0:0.9269:0.0:0.0731	.	811;821	B4DYP7;Q96CW5	.;GCP3_HUMAN	M	821	ENSP00000261965:V821M	ENSP00000261965:V821M	V	-	1	0	TUBGCP3	112192000	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.343000	0.52167	2.474000	0.83562	0.555000	0.69702	GTG		0.418	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		24	7	0	0	0	1	0	24	7				
SMCR8	140775	broad.mit.edu	37	17	18220605	18220605	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr17:18220605T>G	ENST00000406438.3	+	1	1982	c.1502T>G	c.(1501-1503)gTg>gGg	p.V501G	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	501						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGCCCCCAGGTGGTCCGGAGC	0.532																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1501-1503)gTg>gGg		Smith-Magenis syndrome chromosome region, candidate 8							63.0	65.0	64.0					17																	18220605		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18220605T>G	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1502T>G	17.37:g.18220605T>G	ENSP00000385025:p.Val501Gly						p.V501G	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	1982	+			501					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.1502T>G	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	T	10.92	1.485719	0.26686	.	.	ENSG00000176994	ENST00000406438	T	0.39056	1.1	5.91	5.91	0.95273	.	0.302458	0.32802	N	0.005637	T	0.28366	0.0701	L	0.29908	0.895	0.45076	D	0.998092	P	0.35077	0.483	B	0.27887	0.084	T	0.16012	-1.0417	10	0.72032	D	0.01	-39.7433	9.3903	0.38370	0.0:0.1374:0.0:0.8626	.	501	Q8TEV9	SMCR8_HUMAN	G	501	ENSP00000385025:V501G	ENSP00000385025:V501G	V	+	2	0	SMCR8	18161330	1.000000	0.71417	0.997000	0.53966	0.756000	0.42949	2.076000	0.41548	2.261000	0.74972	0.533000	0.62120	GTG		0.532	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		65	58	0	0	0	1	0	65	58				
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667																																						ENST00000391413.2																			6	Substitution - coding silent(6)	p.R51R(6)	endometrium(3)|kidney(2)|lung(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)agG>agA		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274415		682	1579	2261	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274415C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.153G>A	17.37:g.39274415C>T							p.R51R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	191	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.153G>A	CCDS45675.1																																																																																				0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	34	0	0	0	1	0	4	34				
PDGFD	80310	broad.mit.edu	37	11	104034574	104034574	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr11:104034574C>T	ENST00000393158.2	-	1	261	c.82G>A	c.(82-84)Gca>Aca	p.A28T	PDGFD_ENST00000302251.5_Missense_Mutation_p.A28T			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	28					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTGATGGATGCGCTCTGCGGG	0.448											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(82-84)Gca>Aca		platelet derived growth factor D							68.0	69.0	68.0					11																	104034574		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:104034574C>T	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.82G>A	11.37:g.104034574C>T	ENSP00000376865:p.Ala28Thr		OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1378	PDGFD_ENST00000393158.2_Missense_Mutation_p.A28T	p.A28T	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	1	533	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	28					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.82G>A	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243371	0.39697	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.26067	1.76;1.78	5.27	4.34	0.51931	.	0.385102	0.21086	N	0.080409	T	0.14270	0.0345	L	0.27053	0.805	0.29674	N	0.842263	B;P	0.35700	0.382;0.516	B;B	0.25140	0.026;0.058	T	0.08764	-1.0706	10	0.13853	T	0.58	-5.4689	12.1307	0.53942	0.1717:0.8283:0.0:0.0	.	28;28	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	T	28	ENSP00000376865:A28T;ENSP00000302193:A28T	ENSP00000302193:A28T	A	-	1	0	PDGFD	103539784	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	1.892000	0.39748	1.170000	0.42753	0.650000	0.86243	GCA		0.448	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		3	49	0	0	0	1	0	3	49				
LILRB5	10990	broad.mit.edu	37	19	54754889	54754889	+	Intron	SNP	T	T	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr19:54754889T>C	ENST00000316219.5	-	13	1734				CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000450632.1_Silent_p.R582R|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCATCTGTCTGTCCTCTT	0.597																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1744-1746)agA>agG		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5																																				SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754889T>C	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-93A>G	19.37:g.54754889T>C						LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron	p.R582R			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1823	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		388					Q8N760	Silent	SNP	ENST00000316219.5	37	c.1746A>G	CCDS12885.1																																																																																				0.597	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			5	21	0	0	0	1	0	5	21				
KMT2D	8085	broad.mit.edu	37	12	49427537	49427537	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:49427537G>T	ENST00000301067.7	-	39	10950	c.10951C>A	c.(10951-10953)Caa>Aaa	p.Q3651K	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3651	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCTCCGGCTTGCCCACCCGGA	0.662																																						ENST00000301067.7																			0											c.(10951-10953)Caa>Aaa		lysine (K)-specific methyltransferase 2D							21.0	24.0	23.0					12																	49427537		1963	4169	6132	SO:0001583	missense	8085							g.chr12:49427537G>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10951C>A	12.37:g.49427537G>T	ENSP00000301067:p.Gln3651Lys						p.Q3651K	NM_003482.3	NP_003473.3					39	10950	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.10951C>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227624	0.39399	.	.	ENSG00000167548	ENST00000301067	T	0.80653	-1.4	5.34	5.34	0.76211	.	0.000000	0.35555	N	0.003124	T	0.79873	0.4521	N	0.19112	0.55	0.49130	D	0.999752	D	0.67145	0.996	P	0.54759	0.76	T	0.83146	-0.0106	10	0.87932	D	0	.	18.1987	0.89831	0.0:0.0:1.0:0.0	.	3651	O14686	MLL2_HUMAN	K	3651	ENSP00000301067:Q3651K	ENSP00000301067:Q3651K	Q	-	1	0	MLL2	47713804	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	3.428000	0.52792	2.673000	0.90976	0.563000	0.77884	CAA		0.662	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			3	23	1	0	0.150653	1	0.150653	3	23				
UNC119	9094	broad.mit.edu	37	17	26874688	26874688	+	Intron	SNP	C	C	A	rs148433825		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr17:26874688C>A	ENST00000335765.4	-	4	721				UNC119_ENST00000470125.1_Missense_Mutation_p.R111L|UNC119_ENST00000484980.1_Intron|UNC119_ENST00000301032.4_Missense_Mutation_p.R206L	NM_005148.3	NP_005139.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)						cytokinesis, completion of separation (GO:0007109)|endocytosis (GO:0006897)|lipoprotein transport (GO:0042953)|negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of clathrin-mediated endocytosis (GO:1900186)|phototransduction (GO:0007602)|positive regulation of protein tyrosine kinase activity (GO:0061098)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	lipid binding (GO:0008289)	p.?(1)|p.R206L(1)		breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					AGACCCTGCCCGCGCACTCAG	0.602																																						ENST00000470125.1																			2	Substitution - Missense(1)|Unknown(1)	p.?(1)|p.R206L(1)	lung(2)	breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7						c.(331-333)cGg>cTg		unc-119 homolog (C. elegans)							42.0	48.0	46.0					17																	26874688		2203	4300	6503	SO:0001627	intron_variant	9094				phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction		g.chr17:26874688C>A	U40998	CCDS11233.1, CCDS11234.1	17q11.2	2014-09-17	2001-11-28		ENSG00000109103	ENSG00000109103			12565	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog A (Chlamydomonas)"""	604011	"""unc119 (C.elegans) homolog"""			8576185, 9538874	Standard	NM_005148		Approved	HRG4, POC7, POC7A	uc002hbk.2	Q13432	OTTHUMG00000132606	ENST00000335765.4:c.610+6G>T	17.37:g.26874688C>A						UNC119_ENST00000335765.4_Intron|UNC119_ENST00000301032.4_Missense_Mutation_p.R206L|UNC119_ENST00000484980.1_Intron	p.R111L			Q13432	U119A_HUMAN			3	1090	-	Lung NSC(42;0.00431)		0					A8K8G4|F1T095|O95126	Missense_Mutation	SNP	ENST00000335765.4	37	c.332G>T	CCDS11233.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687830	0.29962	.	.	ENSG00000109103	ENST00000301032;ENST00000444148	T;T	0.77229	-1.08;-1.08	5.13	3.08	0.35506	.	.	.	.	.	T	0.42720	0.1215	N	0.00436	-1.5	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.37126	-0.9719	9	0.26408	T	0.33	.	6.8529	0.24024	0.1717:0.736:0.0:0.0923	.	206	F1T095	.	L	206;199	ENSP00000301032:R206L;ENSP00000414639:R199L	ENSP00000301032:R206L	R	-	2	0	UNC119	23898815	0.020000	0.18652	0.955000	0.39395	0.408000	0.30992	0.324000	0.19610	1.135000	0.42183	0.462000	0.41574	CGG		0.602	UNC119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255842.2			29	8	1	0	2.87052e-16	1	3.48127e-16	29	8				
SPTA1	6708	broad.mit.edu	37	1	158606500	158606500	+	Silent	SNP	C	C	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:158606500C>A	ENST00000368147.4	-	37	5421	c.5241G>T	c.(5239-5241)ggG>ggT	p.G1747G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1747					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTTCTGAACCCCCTGAAGAT	0.463																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5239-5241)ggG>ggT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							133.0	129.0	130.0					1																	158606500		1865	4097	5962	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158606500C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5241G>T	1.37:g.158606500C>A						SPTA1_ENST00000368147.3_Silent_p.G1747G	p.G1747G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			37	5421	-	all_hematologic(112;0.0378)		1747					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.5241G>T	CCDS41423.1																																																																																				0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		24	118	1	0	3.08376e-08	1	3.58723e-08	24	118				
PPP1R15A	23645	broad.mit.edu	37	19	49376722	49376722	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr19:49376722C>T	ENST00000200453.5	+	2	501	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	78					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TTGGGGCAGACGCCCTGAAGA	0.582																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(232-234)Cgc>Tgc		protein phosphatase 1, regulatory subunit 15A							56.0	54.0	55.0					19																	49376722		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49376722C>T	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.232C>T	19.37:g.49376722C>T	ENSP00000200453:p.Arg78Cys						p.R78C	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	501	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	78			Required for localization in the endoplasmic reticulum.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.232C>T	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	T	8.273	0.813764	0.16537	.	.	ENSG00000087074	ENST00000200453;ENST00000544084	T	0.03689	3.84	4.02	0.768	0.18487	.	2.332160	0.01508	N	0.017809	T	0.03011	0.0089	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48317	-0.9046	10	0.52906	T	0.07	1.3332	13.313	0.60390	0.0:0.905:0.0:0.095	.	78	O75807	PR15A_HUMAN	C	78;36	ENSP00000200453:R78C	ENSP00000200453:R78C	R	+	1	0	PPP1R15A	54068534	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.461000	0.02366	0.040000	0.15660	-3.982000	0.00014	CGC		0.582	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		21	36	0	0	0	1	0	21	36				
MFF	56947	broad.mit.edu	37	2	228197187	228197187	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr2:228197187G>T	ENST00000353339.3	+	5	753	c.312G>T	c.(310-312)caG>caT	p.Q104H	MFF_ENST00000409616.1_Missense_Mutation_p.Q78H|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Missense_Mutation_p.Q78H|MFF_ENST00000409565.1_Missense_Mutation_p.Q78H|MFF_ENST00000304593.9_Missense_Mutation_p.Q78H|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000354503.6_Missense_Mutation_p.Q78H|MFF_ENST00000392059.1_Missense_Mutation_p.Q104H|MFF_ENST00000337110.7_Missense_Mutation_p.Q78H	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	104					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						ACCTTATTCAGTCAACTCCCT	0.403																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(310-312)caG>caT		mitochondrial fission factor							199.0	195.0	196.0					2																	228197187		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228197187G>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.312G>T	2.37:g.228197187G>T	ENSP00000302037:p.Gln104His					MFF_ENST00000304593.9_Missense_Mutation_p.Q78H|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000354503.6_Missense_Mutation_p.Q78H|MFF_ENST00000409616.1_Missense_Mutation_p.Q78H|MFF_ENST00000337110.7_Missense_Mutation_p.Q78H|MFF_ENST00000409565.1_Missense_Mutation_p.Q78H|MFF_ENST00000392059.1_Missense_Mutation_p.Q104H|MFF_ENST00000349901.7_Missense_Mutation_p.Q78H|MFF_ENST00000476924.1_3'UTR	p.Q104H	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			5	753	+			104					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.312G>T	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147614	0.77888	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000349901;ENST00000392059	T;T	0.34275	1.37;1.37	5.27	4.39	0.52855	.	0.123816	0.64402	D	0.000018	T	0.52224	0.1721	L	0.59436	1.845	0.43531	D	0.995813	D;D;D;D;D;D	0.89917	0.989;1.0;0.994;0.989;1.0;0.999	P;D;D;P;D;D	0.91635	0.804;0.999;0.968;0.832;0.998;0.999	T	0.51458	-0.8703	10	0.51188	T	0.08	-9.3018	9.1621	0.37030	0.0739:0.0:0.7811:0.145	.	78;78;78;78;78;104	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	H	78;104;78;78;78;78;78;78;104	ENSP00000302037:Q104H;ENSP00000375912:Q104H	ENSP00000304898:Q78H	Q	+	3	2	MFF	227905431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.891000	0.63185	1.361000	0.45981	0.563000	0.77884	CAG		0.403	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		6	223	1	0	1.6384e-10	1	1.9456e-10	6	223				
ACACB	32	broad.mit.edu	37	12	109703025	109703025	+	Silent	SNP	T	T	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:109703025T>C	ENST00000338432.7	+	51	7172	c.7053T>C	c.(7051-7053)agT>agC	p.S2351S	ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Silent_p.S2281S|ACACB_ENST00000377848.3_Silent_p.S2351S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2351					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGGAGCTGAGTCACGTGCATA	0.652																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(7051-7053)agT>agC		acetyl-CoA carboxylase beta	Biotin(DB00121)						77.0	66.0	70.0					12																	109703025		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109703025T>C	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.7053T>C	12.37:g.109703025T>C						ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377848.3_Silent_p.S2351S|ACACB_ENST00000377854.5_Silent_p.S2281S	p.S2351S			O00763	ACACB_HUMAN			51	7172	+			2351					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.7053T>C	CCDS31898.1																																																																																				0.652	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		10	74	0	0	0	1	0	10	74				
DNAH10	196385	broad.mit.edu	37	12	124383256	124383256	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:124383256C>G	ENST00000409039.3	+	55	9206	c.9181C>G	c.(9181-9183)Ctg>Gtg	p.L3061V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3061	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CACCATCCAGCTGGACGAGCT	0.622																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(9181-9183)Ctg>Gtg		dynein, axonemal, heavy chain 10							19.0	24.0	22.0					12																	124383256		2018	4178	6196	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124383256C>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9181C>G	12.37:g.124383256C>G	ENSP00000386770:p.Leu3061Val						p.L3061V	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	55	9206	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3061			Stalk (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.9181C>G	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	7.052	0.564726	0.13498	.	.	ENSG00000197653	ENST00000409039	T	0.68624	-0.34	4.54	3.65	0.41850	Dynein heavy chain, coiled coil stalk (1);	0.389043	0.24274	N	0.039975	T	0.49592	0.1566	N	0.15975	0.35	0.46954	D	0.999263	B	0.34015	0.435	B	0.41510	0.359	T	0.44283	-0.9338	10	0.02654	T	1	.	12.7585	0.57350	0.0:0.9201:0.0:0.0799	.	3061	Q8IVF4	DYH10_HUMAN	V	3061	ENSP00000386770:L3061V	ENSP00000386770:L3061V	L	+	1	2	DNAH10	122949209	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.877000	0.56123	1.126000	0.42016	0.462000	0.41574	CTG		0.622	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			6	3	0	0	0	1	0	6	3				
FBN3	84467	broad.mit.edu	37	19	8197878	8197878	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr19:8197878G>C	ENST00000600128.1	-	14	2118	c.1704C>G	c.(1702-1704)caC>caG	p.H568Q	FBN3_ENST00000270509.2_Missense_Mutation_p.H568Q|FBN3_ENST00000601739.1_Missense_Mutation_p.H568Q			Q75N90	FBN3_HUMAN	fibrillin 3	568	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCATGCAGTAGTGGCCGCCAG	0.662																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1702-1704)caC>caG		fibrillin 3							29.0	22.0	25.0					19																	8197878		2195	4294	6489	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8197878G>C		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1704C>G	19.37:g.8197878G>C	ENSP00000470498:p.His568Gln					FBN3_ENST00000270509.2_Missense_Mutation_p.H568Q|FBN3_ENST00000601739.1_Missense_Mutation_p.H568Q	p.H568Q			Q75N90	FBN3_HUMAN			14	2118	-			568			EGF-like 6; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1704C>G	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	4.272	0.049527	0.08243	.	.	ENSG00000142449	ENST00000270509	D	0.86956	-2.19	2.61	2.61	0.31194	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.065033	0.64402	U	0.000006	T	0.74839	0.3769	N	0.16708	0.43	0.09310	N	0.999998	B	0.10296	0.003	B	0.09377	0.004	T	0.62900	-0.6756	10	0.33940	T	0.23	.	9.8076	0.40803	0.0:0.2114:0.7886:0.0	.	568	Q75N90	FBN3_HUMAN	Q	568	ENSP00000270509:H568Q	ENSP00000270509:H568Q	H	-	3	2	FBN3	8103878	0.975000	0.34042	0.965000	0.40720	0.168000	0.22595	0.075000	0.14686	1.159000	0.42565	0.461000	0.40582	CAC		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		3	3	0	0	0	1	0	3	3				
CACNA1C	775	broad.mit.edu	37	12	2676868	2676868	+	Silent	SNP	G	G	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:2676868G>A	ENST00000347598.4	+	13	1803	c.1803G>A	c.(1801-1803)ctG>ctA	p.L601L	CACNA1C_ENST00000327702.7_Silent_p.L601L|CACNA1C_ENST00000399638.1_Silent_p.L601L|CACNA1C_ENST00000399603.1_Silent_p.L601L|CACNA1C_ENST00000335762.5_Silent_p.L626L|CACNA1C_ENST00000399597.1_Silent_p.L601L|CACNA1C_ENST00000399617.1_Silent_p.L601L|CACNA1C_ENST00000399649.1_Silent_p.L601L|CACNA1C_ENST00000406454.3_Silent_p.L601L|CACNA1C_ENST00000399634.1_Silent_p.L601L|CACNA1C_ENST00000399591.1_Silent_p.L601L|CACNA1C_ENST00000399601.1_Silent_p.L601L|CACNA1C_ENST00000399629.1_Silent_p.L601L|CACNA1C_ENST00000402845.3_Silent_p.L601L|CACNA1C_ENST00000480911.1_Silent_p.L601L|CACNA1C_ENST00000399621.1_Silent_p.L601L|CACNA1C_ENST00000399606.1_Silent_p.L601L|CACNA1C_ENST00000399655.1_Silent_p.L601L|CACNA1C_ENST00000399637.1_Silent_p.L601L|CACNA1C_ENST00000399595.1_Silent_p.L601L|CACNA1C_ENST00000344100.3_Silent_p.L601L|CACNA1C_ENST00000399641.1_Silent_p.L601L|CACNA1C_ENST00000399644.1_Silent_p.L601L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	601					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L601L(3)|p.L136L(1)|p.L631L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGGCATCCTGGAGACCATCC	0.582																																						ENST00000399655.1																			5	Substitution - coding silent(5)	p.L601L(3)|p.L136L(1)|p.L631L(1)	lung(5)	NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1801-1803)ctG>ctA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						37.0	41.0	40.0					12																	2676868		2197	4298	6495	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2676868G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1803G>A	12.37:g.2676868G>A						CACNA1C_ENST00000399601.1_Silent_p.L601L|CACNA1C_ENST00000399634.1_Silent_p.L601L|CACNA1C_ENST00000402845.3_Silent_p.L601L|CACNA1C_ENST00000399606.1_Silent_p.L601L|CACNA1C_ENST00000335762.5_Silent_p.L626L|CACNA1C_ENST00000399644.1_Silent_p.L601L|CACNA1C_ENST00000399649.1_Silent_p.L601L|CACNA1C_ENST00000399597.1_Silent_p.L601L|CACNA1C_ENST00000399629.1_Silent_p.L601L|CACNA1C_ENST00000327702.7_Silent_p.L601L|CACNA1C_ENST00000399641.1_Silent_p.L601L|CACNA1C_ENST00000399638.1_Silent_p.L601L|CACNA1C_ENST00000399591.1_Silent_p.L601L|CACNA1C_ENST00000344100.3_Silent_p.L601L|CACNA1C_ENST00000399617.1_Silent_p.L601L|CACNA1C_ENST00000347598.4_Silent_p.L601L|CACNA1C_ENST00000399637.1_Silent_p.L601L|CACNA1C_ENST00000399621.1_Silent_p.L601L|CACNA1C_ENST00000480911.1_Silent_p.L601L|CACNA1C_ENST00000399595.1_Silent_p.L601L|CACNA1C_ENST00000406454.3_Silent_p.L601L|CACNA1C_ENST00000399603.1_Silent_p.L601L	p.L601L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	13	2068	+			601					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.1803G>A	CCDS44788.1																																																																																				0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		14	18	0	0	0	1	0	14	18				
MGA	23269	broad.mit.edu	37	15	41961930	41961930	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr15:41961930G>T	ENST00000570161.1	+	1	838	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Nonsense_Mutation_p.E280*|MGA_ENST00000219905.7_Nonsense_Mutation_p.E280*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E280*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E280*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCTGACCAAGAAGGGAATAA	0.448																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(838-840)Gaa>Taa		MGA, MAX dimerization protein							62.0	59.0	60.0					15																	41961930		1857	4101	5958	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961930G>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.838G>T	15.37:g.41961930G>T	ENSP00000457035:p.Glu280*					MGA_ENST00000566586.1_Nonsense_Mutation_p.E280*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E280*|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Nonsense_Mutation_p.E280*|MGA_ENST00000570161.1_Nonsense_Mutation_p.E280*	p.E280*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	1019	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	280					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.838G>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	35	5.585625	0.96578	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.74	5.74	0.90152	.	0.822850	0.11346	N	0.573507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	X	280	.	ENSP00000219905:E280X	E	+	1	0	MGA	39749222	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.068000	0.57534	2.873000	0.98535	0.563000	0.77884	GAA		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		3	3	1	0	6.4e-05	1	7.15452e-05	3	3				
PLEC	5339	broad.mit.edu	37	8	144990642	144990642	+	Silent	SNP	C	C	G	rs368660987		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr8:144990642C>G	ENST00000322810.4	-	32	13927	c.13758G>C	c.(13756-13758)gcG>gcC	p.A4586A	PLEC_ENST00000357649.2_Silent_p.A4453A|PLEC_ENST00000354958.2_Silent_p.A4427A|PLEC_ENST00000345136.3_Silent_p.A4449A|PLEC_ENST00000527096.1_Silent_p.A4472A|PLEC_ENST00000356346.3_Silent_p.A4435A|PLEC_ENST00000398774.2_Silent_p.A4417A|PLEC_ENST00000354589.3_Silent_p.A4449A|PLEC_ENST00000436759.2_Silent_p.A4476A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4586	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCGGTCCAGCGCGTCCTTAT	0.657																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13756-13758)gcG>gcC		plectin							84.0	91.0	89.0					8																	144990642		2050	4198	6248	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144990642C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13758G>C	8.37:g.144990642C>G						PLEC_ENST00000357649.2_Silent_p.A4453A|PLEC_ENST00000398774.2_Silent_p.A4417A|PLEC_ENST00000527096.1_Silent_p.A4472A|PLEC_ENST00000436759.2_Silent_p.A4476A|PLEC_ENST00000345136.3_Silent_p.A4449A|PLEC_ENST00000356346.3_Silent_p.A4435A|PLEC_ENST00000354589.3_Silent_p.A4449A|PLEC_ENST00000354958.2_Silent_p.A4427A	p.A4586A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13927	-			4586			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.13758G>C	CCDS43772.1																																																																																				0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	246	0	0	0	1	0	4	246				
LRRC4C	57689	broad.mit.edu	37	11	40136892	40136892	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr11:40136892T>A	ENST00000278198.2	-	2	2914	c.951A>T	c.(949-951)aaA>aaT	p.K317N	LRRC4C_ENST00000527150.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.K317N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	317	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGCCATGTCTTTTATCCACC	0.483																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(949-951)aaA>aaT		leucine rich repeat containing 4C							115.0	100.0	105.0					11																	40136892		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136892T>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.951A>T	11.37:g.40136892T>A	ENSP00000278198:p.Lys317Asn					LRRC4C_ENST00000528697.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.K317N	p.K317N			Q9HCJ2	LRC4C_HUMAN			2	2914	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	317			LRRCT.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.951A>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.679957	0.29783	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	5.76	4.64	0.57946	Cysteine-rich flanking region, C-terminal (1);	0.047663	0.85682	D	0.000000	T	0.07863	0.0197	M	0.71871	2.18	0.49213	D	0.999765	P	0.36171	0.541	B	0.36378	0.223	T	0.03597	-1.1021	10	0.54805	T	0.06	.	9.4435	0.38684	0.0:0.1115:0.0:0.8885	.	317	Q9HCJ2	LRC4C_HUMAN	N	317	ENSP00000278198:K317N;ENSP00000436976:K317N;ENSP00000437132:K317N;ENSP00000434761:K317N	ENSP00000278198:K317N	K	-	3	2	LRRC4C	40093468	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.828000	0.27435	2.206000	0.71126	0.533000	0.62120	AAA		0.483	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		27	28	0	0	0	1	0	27	28				
DCHS2	54798	broad.mit.edu	37	4	155254133	155254133	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr4:155254133C>T	ENST00000357232.4	-	9	1729	c.1730G>A	c.(1729-1731)cGc>cAc	p.R577H	DCHS2_ENST00000339452.1_Missense_Mutation_p.R1076H|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	577	Cadherin 4. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCTGTGTTCGCGTTTCTCGAT	0.577																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1729-1731)cGc>cAc		dachsous cadherin-related 2							85.0	86.0	86.0					4																	155254133		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254133C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1730G>A	4.37:g.155254133C>T	ENSP00000349768:p.Arg577His					DCHS2_ENST00000339452.1_Missense_Mutation_p.R1076H	p.R577H	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1729	-	all_hematologic(180;0.208)	Renal(120;0.0854)	577			Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1730G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333144	0.41297	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.60424	0.19;0.19	5.43	-7.46	0.01369	Cadherin (3);	1.047490	0.07507	N	0.908239	T	0.42630	0.1211	L	0.50333	1.59	0.20074	N	0.999934	D;D	0.56746	0.961;0.977	B;B	0.40741	0.213;0.339	T	0.49781	-0.8903	10	0.38643	T	0.18	.	7.5015	0.27520	0.0:0.2379:0.2745:0.4876	.	1076;577	E9PC11;Q6V1P9	.;PCD23_HUMAN	H	577;1076;1076	ENSP00000349768:R577H;ENSP00000345062:R1076H	ENSP00000345062:R1076H	R	-	2	0	DCHS2	155473583	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.048000	0.11944	-0.784000	0.04528	-2.232000	0.00291	CGC		0.577	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		27	44	0	0	0	1	0	27	44				
CYP4Z2P	163720	broad.mit.edu	37	1	47325397	47325397	+	RNA	SNP	G	G	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:47325397G>C	ENST00000505841.1	-	0	1132					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										TACTACCGGTGCGTAGAGGCG	0.473																																						ENST00000505841.1																			0																																																			0							g.chr1:47325397G>C	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325397G>C								NR_002788.2						0	1132	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.473	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		7	75	0	0	0	1	0	7	75				
XPNPEP3	63929	broad.mit.edu	37	22	41318452	41318452	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr22:41318452C>A	ENST00000357137.4	+	8	1255	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.L368M	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	391					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GATGCTGACCCTGATAGGACA	0.453																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(1171-1173)Ctg>Atg		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							233.0	228.0	230.0					22																	41318452		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41318452C>A		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1171C>A	22.37:g.41318452C>A	ENSP00000349658:p.Leu391Met					XPNPEP3_ENST00000544094.1_Missense_Mutation_p.L368M	p.L391M	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			8	1255	+			391					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.1171C>A	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530661	0.45073	.	.	ENSG00000196236	ENST00000357137;ENST00000544094	T;T	0.77620	-1.11;-1.11	5.85	1.55	0.23275	Peptidase M24, structural domain (3);	0.071318	0.56097	D	0.000021	T	0.63604	0.2525	L	0.41236	1.265	0.48901	D	0.999721	P	0.38617	0.64	B	0.36567	0.228	T	0.57464	-0.7807	10	0.49607	T	0.09	-5.2218	5.0413	0.14460	0.1347:0.5862:0.0:0.2791	.	391	Q9NQH7	XPP3_HUMAN	M	391;368	ENSP00000349658:L391M;ENSP00000441942:L368M	ENSP00000349658:L391M	L	+	1	2	XPNPEP3	39648398	0.886000	0.30341	0.046000	0.18839	0.721000	0.41392	1.751000	0.38339	0.406000	0.25560	0.655000	0.94253	CTG		0.453	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		5	209	1	0	0.000602214	1	0.000647665	5	209				
ASTN1	460	broad.mit.edu	37	1	176927554	176927554	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:176927554C>G	ENST00000367654.3	-	10	1898	c.1687G>C	c.(1687-1689)Gcc>Ccc	p.A563P	ASTN1_ENST00000367657.3_Missense_Mutation_p.A555P|ASTN1_ENST00000361833.2_Missense_Mutation_p.A555P|ASTN1_ENST00000424564.2_Missense_Mutation_p.A555P|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	563					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCCAGTTCGGCTGGTGGAATC	0.562																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1687-1689)Gcc>Ccc		astrotactin 1							112.0	83.0	93.0					1																	176927554		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176927554C>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1687G>C	1.37:g.176927554C>G	ENSP00000356626:p.Ala563Pro					ASTN1_ENST00000424564.2_Missense_Mutation_p.A555P|ASTN1_ENST00000367657.3_Missense_Mutation_p.A555P|ASTN1_ENST00000361833.2_Missense_Mutation_p.A555P|ASTN1_ENST00000281881.3_5'UTR	p.A563P			O14525	ASTN1_HUMAN			10	1700	-			563					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1687G>C		.	.	.	.	.	.	.	.	.	.	C	28.6	4.936322	0.92458	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15834	2.39;2.8;2.8;2.39	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	N	0.14661	0.345	0.80722	D	1	D;D;D	0.67145	0.996;0.983;0.983	D;P;P	0.63877	0.919;0.773;0.773	T	0.07385	-1.0775	10	0.42905	T	0.14	-20.4613	18.9852	0.92766	0.0:1.0:0.0:0.0	.	563;555;555	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	P	555;555;563;555;555	ENSP00000356629:A555P;ENSP00000354536:A555P;ENSP00000356626:A563P;ENSP00000395041:A555P	ENSP00000354536:A555P	A	-	1	0	ASTN1	175194177	1.000000	0.71417	0.910000	0.35882	0.907000	0.53573	5.851000	0.69481	2.572000	0.86782	0.655000	0.94253	GCC		0.562	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		18	22	0	0	0	1	0	18	22				
SERGEF	26297	broad.mit.edu	37	11	18026082	18026082	+	Splice_Site	SNP	T	T	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr11:18026082T>C	ENST00000265965.5	-	4	504	c.353A>G	c.(352-354)gAa>gGa	p.E118G	RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000528200.1_Splice_Site_p.E118G|SERGEF_ENST00000532212.1_5'UTR|SERGEF_ENST00000532265.1_Splice_Site_p.E4G	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	118					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TTGACCATTTTCTGCAAAATA	0.453																																						ENST00000265965.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						c.e4-1		secretion regulating guanine nucleotide exchange factor							68.0	55.0	59.0					11																	18026082		2200	4293	6493	SO:0001630	splice_region_variant	26297				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity	g.chr11:18026082T>C	AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.353-1A>G	11.37:g.18026082T>C						SERGEF_ENST00000532265.1_Splice_Site_p.E4_splice|SERGEF_ENST00000532212.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000528200.1_Splice_Site_p.E118_splice	p.E118_splice	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN			4	504	-			118					Q9UGK9	Splice_Site	SNP	ENST00000265965.5	37	c.352_splice	CCDS7828.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.007427	0.35415	.	.	ENSG00000129158	ENST00000265965;ENST00000528200;ENST00000532265;ENST00000529728;ENST00000530613;ENST00000532389	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.42	1.86	0.25419	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.353469	0.32836	N	0.005592	T	0.72301	0.3443	L	0.58969	1.84	0.33709	D	0.615541	B;B;B;B	0.10296	0.001;0.003;0.001;0.003	B;B;B;B	0.12156	0.003;0.007;0.006;0.007	T	0.67730	-0.5595	10	0.27785	T	0.31	.	7.3811	0.26856	0.0:0.3321:0.0:0.6679	.	4;4;118;118	B4DFC0;E9PMV6;Q9UGK8-2;Q9UGK8	.;.;.;SRGEF_HUMAN	G	118;118;4;4;4;4	ENSP00000265965:E118G;ENSP00000434188:E118G;ENSP00000431314:E4G;ENSP00000437297:E4G;ENSP00000436080:E4G;ENSP00000435898:E4G	ENSP00000265965:E118G	E	-	2	0	SERGEF	17982658	0.946000	0.32159	0.999000	0.59377	0.917000	0.54804	0.575000	0.23729	0.525000	0.28522	0.533000	0.62120	GAA		0.453	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389538.1	NM_012139	Missense_Mutation	7	9	0	0	0	1	0	7	9				
GPR126	57211	broad.mit.edu	37	6	142630689	142630689	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr6:142630689G>A	ENST00000230173.6	+	2	487	c.11G>A	c.(10-12)cGc>cAc	p.R4H	GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000296932.8_Missense_Mutation_p.R4H|GPR126_ENST00000367608.2_Missense_Mutation_p.R4H|GPR126_ENST00000367609.3_Missense_Mutation_p.R4H	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	4					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGGATGTTTCGCTCAGATCGA	0.393																																						ENST00000230173.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(10-12)cGc>cAc		G protein-coupled receptor 126							87.0	82.0	84.0					6																	142630689		1879	4101	5980	SO:0001583	missense	0				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142630689G>A	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.11G>A	6.37:g.142630689G>A	ENSP00000230173:p.Arg4His					GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000367608.2_Missense_Mutation_p.R4H|GPR126_ENST00000367609.3_Missense_Mutation_p.R4H|GPR126_ENST00000296932.8_Missense_Mutation_p.R4H	p.R4H	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	2	487	+	Breast(32;0.176)		4					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.11G>A	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	8.019	0.759208	0.15846	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199;ENST00000435011	T;T;T;T;T;T	0.25414	1.82;1.82;1.82;1.82;1.99;1.8	5.39	-3.61	0.04556	.	1.592710	0.03632	N	0.238086	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.25813	-1.0121	10	0.09084	T	0.74	.	6.3983	0.21624	0.4517:0.1417:0.4066:0.0	.	4;4;4;4;3	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4;F5H2L1	.;.;.;GP126_HUMAN;.	H	4;4;4;4;3;3	ENSP00000230173:R4H;ENSP00000356580:R4H;ENSP00000296932:R4H;ENSP00000356581:R4H;ENSP00000446287:R3H;ENSP00000438366:R3H	ENSP00000230173:R4H	R	+	2	0	GPR126	142672382	0.001000	0.12720	0.005000	0.12908	0.747000	0.42532	-0.179000	0.09768	-0.720000	0.04935	-0.455000	0.05494	CGC		0.393	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			3	6	0	0	0	1	0	3	6				
VAV1	7409	broad.mit.edu	37	19	6850726	6850726	+	Silent	SNP	A	A	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr19:6850726A>C	ENST00000602142.1	+	24	2257	c.2175A>C	c.(2173-2175)ggA>ggC	p.G725G	VAV1_ENST00000596764.1_Silent_p.G693G|VAV1_ENST00000539284.1_Silent_p.G628G|VAV1_ENST00000304076.2_Silent_p.G703G|VAV1_ENST00000599806.1_Silent_p.G670G	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	725	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGCAGAAGGACTGTACCGGA	0.552																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(2107-2109)ggA>ggC		vav 1 guanine nucleotide exchange factor							111.0	100.0	104.0					19																	6850726		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6850726A>C		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2175A>C	19.37:g.6850726A>C						VAV1_ENST00000599806.1_Silent_p.G670G|VAV1_ENST00000602142.1_Silent_p.G725G|VAV1_ENST00000596764.1_Silent_p.G693G|VAV1_ENST00000539284.1_Silent_p.G628G	p.G703G	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			23	2203	+			725			SH2.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.2109A>C	CCDS12174.1																																																																																				0.552	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			27	31	0	0	0	1	0	27	31				
FGF7	2252	broad.mit.edu	37	15	49716687	49716687	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr15:49716687A>T	ENST00000267843.4	+	2	804	c.193A>T	c.(193-195)Aga>Tga	p.R65*	FGF7_ENST00000560270.1_Nonsense_Mutation_p.R65*|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	65					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		AGGGGATATAAGAGTGAGAAG	0.423																																						ENST00000267843.4																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(193-195)Aga>Tga		fibroblast growth factor 7	Palifermin(DB00039)						108.0	105.0	106.0					15																	49716687		2196	4295	6491	SO:0001587	stop_gained	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49716687A>T	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.193A>T	15.37:g.49716687A>T	ENSP00000267843:p.Arg65*					FGF7_ENST00000560270.1_Nonsense_Mutation_p.R65*|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	p.R65*	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	2	804	+		all_lung(180;0.00391)	65					H0YNY5|Q6FGV5|Q96FG5	Nonsense_Mutation	SNP	ENST00000267843.4	37	c.193A>T	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	A	38	7.231976	0.98150	.	.	ENSG00000140285	ENST00000267843	.	.	.	5.7	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3301	0.55035	0.7335:0.2665:0.0:0.0	.	.	.	.	X	65	.	ENSP00000267843:R65X	R	+	1	2	FGF7	47503979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.967000	0.56802	0.977000	0.38444	0.533000	0.62120	AGA		0.423	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		3	47	0	0	0	1	0	3	47				
LCN15	389812	broad.mit.edu	37	9	139656738	139656738	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr9:139656738C>T	ENST00000316144.5	-	5	446	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	141					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						ATCCTGGGTCCGGCCTGGGCA	0.627																																						ENST00000316144.5																			0				endometrium(1)|lung(1)	2						c.(421-423)cGg>cAg		lipocalin 15							19.0	19.0	19.0					9																	139656738		2185	4293	6478	SO:0001583	missense	389812				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139656738C>T		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.422G>A	9.37:g.139656738C>T	ENSP00000313833:p.Arg141Gln					LCN15_ENST00000482511.1_5'UTR	p.R141Q	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN			5	446	-			141						Missense_Mutation	SNP	ENST00000316144.5	37	c.422G>A	CCDS7006.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499340	0.44455	.	.	ENSG00000177984	ENST00000316144	T	0.37584	1.19	4.0	4.0	0.46444	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.192513	0.25143	N	0.032809	T	0.61874	0.2382	M	0.85859	2.78	0.35372	D	0.789156	D	0.89917	1.0	D	0.85130	0.997	T	0.75317	-0.3360	10	0.87932	D	0	.	11.633	0.51187	0.0:1.0:0.0:0.0	.	141	Q6UWW0	LCN15_HUMAN	Q	141	ENSP00000313833:R141Q	ENSP00000313833:R141Q	R	-	2	0	LCN15	138776559	0.997000	0.39634	0.028000	0.17463	0.062000	0.15995	2.146000	0.42216	1.794000	0.52575	0.655000	0.94253	CGG		0.627	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		7	5	0	0	0	1	0	7	5				
CDS1	1040	broad.mit.edu	37	4	85562063	85562063	+	Missense_Mutation	SNP	G	G	A	rs146506985	byFrequency	TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr4:85562063G>A	ENST00000295887.5	+	10	1375	c.952G>A	c.(952-954)Gtg>Atg	p.V318M		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in prostate cancer; somatic mutation; dbSNP:rs143611747). {ECO:0000269|PubMed:12533788}.		cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		AAACTCCTTCGTGACAGAATG	0.403													G|||	2	0.000399361	0.0	0.0	5008	,	,		13219	0.002		0.0	False		,,,				2504	0.0					ENST00000295887.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(952-954)Gtg>Atg		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1							158.0	149.0	152.0					4																	85562063		2203	4300	6503	SO:0001583	missense	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85562063G>A	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.952G>A	4.37:g.85562063G>A	ENSP00000295887:p.Val318Met						p.V318M	NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	10	1375	+		Hepatocellular(203;0.114)	318					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000295887.5	37	c.952G>A	CCDS3608.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	4.348	0.064028	0.08388	.	.	ENSG00000163624	ENST00000295887	T	0.43294	0.95	5.09	4.24	0.50183	.	0.243005	0.43110	D	0.000613	T	0.17789	0.0427	N	0.02539	-0.55	0.09310	N	1	B	0.30114	0.269	B	0.26202	0.067	T	0.13255	-1.0516	10	0.33141	T	0.24	-21.7843	10.7374	0.46133	0.0:0.1428:0.7089:0.1483	.	318	Q92903	CDS1_HUMAN	M	318	ENSP00000295887:V318M	ENSP00000295887:V318M	V	+	1	0	CDS1	85781087	0.123000	0.22298	0.147000	0.22382	0.051000	0.14879	1.600000	0.36762	1.356000	0.45884	-0.176000	0.13171	GTG		0.403	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			58	72	0	0	0	1	0	58	72				
SDHAP1	255812	broad.mit.edu	37	3	195717061	195717061	+	RNA	SNP	C	C	A	rs182566717		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr3:195717061C>A	ENST00000427841.1	-	0	89					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AGGGACTCACCGCCTTGGCCA	0.791																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195717061C>A	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195717061C>A								NR_003264.2						0	89	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.791	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	8	1	0	0.00909568	1	0.0092581	4	8				
ARID2	196528	broad.mit.edu	37	12	46211601	46211601	+	Silent	SNP	C	C	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:46211601C>T	ENST00000334344.6	+	5	739	c.567C>T	c.(565-567)caC>caT	p.H189H	ARID2_ENST00000422737.1_Silent_p.H40H	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	189					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAAGCAAGCACGTCATGCAAC	0.353			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(565-567)caC>caT		AT rich interactive domain 2 (ARID, RFX-like)							91.0	81.0	84.0					12																	46211601		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46211601C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.567C>T	12.37:g.46211601C>T						ARID2_ENST00000422737.1_Silent_p.H40H	p.H189H	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	5	739	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	189					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.567C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826312	0.50739	.	.	ENSG00000189079	ENST00000549153;ENST00000338636	.	.	.	5.56	1.68	0.24146	.	.	.	.	.	T	0.60818	0.2298	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55829	-0.8079	5	0.46703	T	0.11	-7.5844	8.6135	0.33817	0.0:0.4283:0.0:0.5717	.	.	.	.	M	81	.	ENSP00000339739:T81M	T	+	2	0	ARID2	44497868	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.810000	0.27183	0.031000	0.15407	0.555000	0.69702	ACG		0.353	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		27	40	0	0	0	1	0	27	40				
YBX1	4904	broad.mit.edu	37	1	43162406	43162406	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:43162406C>T	ENST00000321358.7	+	5	587	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C	YBX1_ENST00000467957.1_3'UTR	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	150					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGCTATCCACGTCGTAGGGG	0.517																																						ENST00000321358.7																			0				large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16						c.(448-450)Cgt>Tgt		Y box binding protein 1							75.0	77.0	76.0					1																	43162406		2203	4300	6503	SO:0001583	missense	4904				CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:43162406C>T	BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"""nuclease sensitive element binding protein 1"""	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.448C>T	1.37:g.43162406C>T	ENSP00000361626:p.Arg150Cys					YBX1_ENST00000467957.1_3'UTR	p.R150C	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN			5	587	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	150					P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	ENST00000321358.7	37	c.448C>T	CCDS470.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287210	0.59867	.	.	ENSG00000065978	ENST00000321358;ENST00000332220;ENST00000318612	T;T	0.39229	1.09;1.12	5.24	5.24	0.73138	.	0.344925	0.38164	N	0.001798	T	0.62332	0.2419	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.61446	-0.7061	10	0.45353	T	0.12	-1.9726	16.6713	0.85267	0.0:1.0:0.0:0.0	.	150	P67809	YBOX1_HUMAN	C	150;120;146	ENSP00000361626:R150C;ENSP00000405937:R120C	ENSP00000361621:R146C	R	+	1	0	YBX1	42934993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.256000	0.78350	2.600000	0.87896	0.563000	0.77884	CGT		0.517	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559		30	30	0	0	0	1	0	30	30				
MUC17	140453	broad.mit.edu	37	7	100682272	100682272	+	Silent	SNP	G	G	A	rs202162190	byFrequency	TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr7:100682272G>A	ENST00000306151.4	+	3	7639	c.7575G>A	c.(7573-7575)acG>acA	p.T2525T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2525	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCACGCCAGTGGCCA	0.478													G|||	2	0.000399361	0.0	0.0	5008	,	,		27607	0.0		0.002	False		,,,				2504	0.0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7573-7575)acG>acA		mucin 17, cell surface associated							244.0	264.0	257.0					7																	100682272		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682272G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7575G>A	7.37:g.100682272G>A							p.T2525T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	7639	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2525			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7575G>A	CCDS34711.1																																																																																				0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		172	209	0	0	0	1	0	172	209				
SPOCK3	50859	broad.mit.edu	37	4	167656222	167656222	+	Silent	SNP	G	G	A	rs143568587		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr4:167656222G>A	ENST00000357154.3	-	12	1298	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	SPOCK3_ENST00000512681.1_Silent_p.S289S|SPOCK3_ENST00000541637.1_Silent_p.S289S|SPOCK3_ENST00000535728.1_Silent_p.S255S|SPOCK3_ENST00000511269.1_Silent_p.S384S|SPOCK3_ENST00000541354.1_Silent_p.S267S|SPOCK3_ENST00000510741.1_Silent_p.S344S|SPOCK3_ENST00000504953.1_Silent_p.S384S|SPOCK3_ENST00000511531.1_Silent_p.S387S|SPOCK3_ENST00000502330.1_Silent_p.S387S|SPOCK3_ENST00000506886.1_Silent_p.S387S|SPOCK3_ENST00000421836.2_Silent_p.S336S|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Silent_p.S384S|SPOCK3_ENST00000534949.1_Silent_p.S291S	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	387					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		caaaatcTCCGGAGATCTCAA	0.313																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(1159-1161)tcC>tcT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3		G	,,,,,,,	0,4406		0,0,2203	103.0	102.0	102.0		1152,1008,801,885,873,1032,1032,1161	-9.6	1.0	4	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SPOCK3	NM_001040159.1,NM_001204352.1,NM_001204353.1,NM_001204354.1,NM_001204355.1,NM_001204356.1,NM_001204357.1,NM_016950.2	,,,,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,,	384/434,336/386,267/317,295/345,291/341,344/394,344/394,387/437	167656222	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167656222G>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1161C>T	4.37:g.167656222G>A						SPOCK3_ENST00000541354.1_Silent_p.S267S|SPOCK3_ENST00000535728.1_Silent_p.S255S|SPOCK3_ENST00000502330.1_Silent_p.S387S|SPOCK3_ENST00000534949.1_Silent_p.S291S|SPOCK3_ENST00000510741.1_Silent_p.S344S|SPOCK3_ENST00000511531.1_Silent_p.S387S|SPOCK3_ENST00000357545.4_Silent_p.S384S|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Silent_p.S387S|SPOCK3_ENST00000511269.1_Silent_p.S384S|SPOCK3_ENST00000504953.1_Silent_p.S384S|SPOCK3_ENST00000421836.2_Silent_p.S336S|SPOCK3_ENST00000541637.1_Silent_p.S289S|SPOCK3_ENST00000512681.1_Silent_p.S289S	p.S387S	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	12	1298	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	387					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP	ENST00000357154.3	37	c.1161C>T	CCDS54817.1																																																																																				0.313	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			36	37	0	0	0	1	0	36	37				
ALG1L2	644974	broad.mit.edu	37	3	129817105	129817105	+	RNA	SNP	A	A	G			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr3:129817105A>G	ENST00000507643.1	+	0	687				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										CTGATCCTGAAGGCAAGCTAA	0.527																																						ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129817105A>G	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129817105A>G										C9J202	AG1L2_HUMAN			0	687	+									RNA	SNP	ENST00000507643.1	37																																																																																						0.527	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		5	42	0	0	0	1	0	5	42				
MAP2	4133	broad.mit.edu	37	2	210561313	210561313	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr2:210561313G>C	ENST00000360351.4	+	8	4734	c.4228G>C	c.(4228-4230)Gag>Cag	p.E1410Q	MAP2_ENST00000447185.1_Missense_Mutation_p.E1406Q|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1410					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TATTCCTAAAGAGGAGAAAGC	0.383																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(4228-4230)Gag>Cag		microtubule-associated protein 2	Estramustine(DB01196)						67.0	72.0	70.0					2																	210561313		2203	4299	6502	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210561313G>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4228G>C	2.37:g.210561313G>C	ENSP00000353508:p.Glu1410Gln					MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1406Q|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	p.E1410Q	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	8	4734	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1410					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.4228G>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193677	0.58017	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25749	1.78;1.78	5.66	5.66	0.87406	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000010	T	0.50205	0.1602	L	0.59436	1.845	0.42635	D	0.99339	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.38802	-0.9644	10	0.46703	T	0.11	-19.4489	19.7534	0.96277	0.0:0.0:1.0:0.0	.	1406;1410	P11137-3;P11137	.;MAP2_HUMAN	Q	1410;1406	ENSP00000353508:E1410Q;ENSP00000392164:E1406Q	ENSP00000353508:E1410Q	E	+	1	0	MAP2	210269558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.018000	0.57174	2.673000	0.90976	0.650000	0.86243	GAG		0.383	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		17	38	0	0	0	1	0	17	38				
POU2F2	5452	broad.mit.edu	37	19	42599443	42599443	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr19:42599443G>T	ENST00000526816.2	-	11	1141	c.1126C>A	c.(1126-1128)Cat>Aat	p.H376N	POU2F2_ENST00000529952.1_Missense_Mutation_p.H376N|POU2F2_ENST00000560398.1_Missense_Mutation_p.H382N|POU2F2_ENST00000533720.1_Missense_Mutation_p.H360N|POU2F2_ENST00000560558.1_Missense_Mutation_p.H321N|POU2F2_ENST00000389341.5_Missense_Mutation_p.H360N|POU2F2_ENST00000342301.4_Missense_Mutation_p.H376N|POU2F2_ENST00000529067.1_Missense_Mutation_p.H360N			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	376					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	GGTACCATATGGGGGCTGTAG	0.652																																						ENST00000389341.5																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1078-1080)Cat>Aat		POU class 2 homeobox 2							17.0	20.0	19.0					19																	42599443		2201	4300	6501	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42599443G>T		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1126C>A	19.37:g.42599443G>T	ENSP00000431603:p.His376Asn					POU2F2_ENST00000560558.1_Missense_Mutation_p.H321N|POU2F2_ENST00000526816.2_Missense_Mutation_p.H376N|POU2F2_ENST00000560398.1_Missense_Mutation_p.H382N|POU2F2_ENST00000342301.4_Missense_Mutation_p.H376N|POU2F2_ENST00000533720.1_Missense_Mutation_p.H360N|POU2F2_ENST00000529067.1_Missense_Mutation_p.H360N|POU2F2_ENST00000529952.1_Missense_Mutation_p.H376N	p.H360N	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN			11	1144	-		Prostate(69;0.059)	376					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.1078C>A	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131628	0.77662	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;T;D	0.83075	-1.61;-1.68;-1.65;-1.39;-1.62	3.99	3.99	0.46301	.	0.577012	0.16047	N	0.232159	T	0.81049	0.4742	L	0.32530	0.975	0.50039	D	0.999849	P;D;P	0.55385	0.913;0.971;0.93	P;B;P	0.50754	0.614;0.388;0.649	T	0.78841	-0.2045	10	0.30078	T	0.28	.	15.3987	0.74818	0.0:0.0:1.0:0.0	.	360;376;360	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	N	360;376;376;360;375;360;376	ENSP00000373992:H360N;ENSP00000339369:H376N;ENSP00000437221:H360N;ENSP00000437224:H360N;ENSP00000436988:H376N	ENSP00000292077:H376N	H	-	1	0	POU2F2	47291283	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	4.047000	0.57383	2.214000	0.71695	0.655000	0.94253	CAT		0.652	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			7	11	1	0	0.00198382	1	0.00209403	7	11				
EPPK1	83481	broad.mit.edu	37	8	144940884	144940884	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr8:144940884G>C	ENST00000525985.1	-	2	6609	c.6538C>G	c.(6538-6540)Cag>Gag	p.Q2180E				P58107	EPIPL_HUMAN	epiplakin 1	2180						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGTGATCTGTCGTCTAATT	0.537																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6538-6540)Cag>Gag		epiplakin 1							252.0	262.0	259.0					8																	144940884		2082	4210	6292	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940884G>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6538C>G	8.37:g.144940884G>C	ENSP00000436337:p.Gln2180Glu						p.Q2180E			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6609	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2180					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6538C>G		.	.	.	.	.	.	.	.	.	.	G	10.63	1.404833	0.25378	.	.	ENSG00000227184	ENST00000525985	T	0.67523	-0.27	4.66	1.68	0.24146	.	.	.	.	.	T	0.55955	0.1953	L	0.43923	1.385	0.09310	N	1	B	0.28439	0.212	B	0.32465	0.146	T	0.39143	-0.9628	9	0.10111	T	0.7	.	11.3764	0.49730	0.0:0.0:0.528:0.472	.	2180	E9PPU0	.	E	2180	ENSP00000436337:Q2180E	ENSP00000436337:Q2180E	Q	-	1	0	EPPK1	145012872	0.233000	0.23772	0.000000	0.03702	0.002000	0.02628	0.576000	0.23744	0.145000	0.18977	0.585000	0.79938	CAG		0.537	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		93	262	0	0	0	1	0	93	262				
SH3PXD2A	9644	broad.mit.edu	37	10	105372694	105372694	+	Missense_Mutation	SNP	C	C	T	rs553552960		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr10:105372694C>T	ENST00000369774.4	-	12	1450	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	RP11-416N2.4_ENST00000609691.1_RNA|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.V364M|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.V254M|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.V259M|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.V227M			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	392					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGAACGCCCACGGCACTGCCA	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21002	0.0		0.0	False		,,,				2504	0.0					ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1174-1176)Gtg>Atg		SH3 and PX domains 2A							52.0	47.0	49.0					10																	105372694		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105372694C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1174G>A	10.37:g.105372694C>T	ENSP00000358789:p.Val392Met					SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.V227M|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.V254M|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.V364M|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.V259M	p.V392M			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	12	1450	-		Colorectal(252;0.0815)|Breast(234;0.131)	392					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.1174G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.425|3.425	-0.117278|-0.117278	0.06838|0.06838	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000427662;ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T;T	.|0.56275	.|0.53;0.54;0.54;0.69;0.47	5.67|5.67	-0.173|-0.173	0.13322|0.13322	.|.	.|0.347255	.|0.32671	.|N	.|0.005783	T|T	0.12860|0.12860	0.0312|0.0312	N|N	0.01048|0.01048	-1.04|-1.04	0.09310|0.09310	N|N	1|1	.|B;B;B;P;B	.|0.37663	.|0.008;0.033;0.338;0.604;0.004	.|B;B;B;B;B	.|0.26770	.|0.002;0.005;0.018;0.073;0.005	T|T	0.21008|0.21008	-1.0258|-1.0258	5|10	.|0.39692	.|T	.|0.17	-6.0818|-6.0818	0.7638|0.7638	0.01011|0.01011	0.1737:0.2108:0.2847:0.3309|0.1737:0.2108:0.2847:0.3309	.|.	.|392;241;254;237;364	.|Q5TCZ1;B7Z9L8;F8WCK5;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.;.	H|M	318|254;392;364;199;307;259;227	.|ENSP00000392664:V254M;ENSP00000358789:V392M;ENSP00000348215:V364M;ENSP00000443663:V259M;ENSP00000441514:V227M	.|ENSP00000318135:V199M	R|V	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105362684|105362684	0.035000|0.035000	0.19736|0.19736	0.449000|0.449000	0.26957|0.26957	0.032000|0.032000	0.12392|0.12392	2.136000|2.136000	0.42121|0.42121	0.321000|0.321000	0.23259|0.23259	-0.311000|-0.311000	0.09066|0.09066	CGT|GTG		0.632	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		4	67	0	0	0	1	0	4	67				
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr6:32725559C>T	ENST00000437316.2	-	4	811	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.G250S			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	254					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(748-750)Ggt>Agt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725559C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.748G>A	6.37:g.32725559C>T	ENSP00000396330:p.Gly250Ser					HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S	p.G250S			Q5SR06	Q5SR06_HUMAN			4	809	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.748G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.519393	0.00149	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00623	6.18;6.15	3.24	-1.21	0.09524	.	0.870743	0.09631	N	0.776240	T	0.00178	0.0005	.	.	.	0.21967	N	0.999447	B	0.10296	0.003	B	0.09377	0.004	T	0.22277	-1.0221	9	0.36615	T	0.2	.	4.3261	0.11041	0.0:0.2114:0.1703:0.6183	.	250	A2ADX3	.	S	250	ENSP00000396330:G250S;ENSP00000410512:G250S	ENSP00000410512:G250S	G	-	1	0	HLA-DQB2	32833537	0.000000	0.05858	0.134000	0.22075	0.023000	0.10783	0.266000	0.18534	-0.331000	0.08501	-1.846000	0.00573	GGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			5	27	0	0	0	1	0	5	27				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	66	0	0	0	1	0	4	66				
EDRF1	26098	broad.mit.edu	37	10	127431798	127431798	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr10:127431798G>T	ENST00000356792.4	+	18	2775	c.2543G>T	c.(2542-2544)gGt>gTt	p.G848V	RP11-383C5.7_ENST00000594025.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.G814V|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		848					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AATGAAATTGGTGTGTTTTAC	0.363																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(2440-2442)gGt>gTt		chromosome 10 open reading frame 137							116.0	118.0	117.0					10																	127431798		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127431798G>T																												ENST00000356792.4:c.2543G>T	10.37:g.127431798G>T	ENSP00000349244:p.Gly848Val					C10orf137_ENST00000356792.4_Missense_Mutation_p.G848V	p.G814V	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			17	2546	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	848					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.2441G>T	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208081	0.58343	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.74737	-0.87;-0.87	4.93	4.93	0.64822	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.84933	0.5582	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.86645	0.1894	10	0.72032	D	0.01	.	18.1738	0.89754	0.0:0.0:1.0:0.0	.	848;195;814	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	V	848;814	ENSP00000349244:G848V;ENSP00000336727:G814V	ENSP00000336727:G814V	G	+	2	0	C10orf137	127421788	1.000000	0.71417	0.503000	0.27626	0.281000	0.26958	9.347000	0.97059	2.274000	0.75844	0.637000	0.83480	GGT		0.363	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			11	28	1	0	6.40141e-05	1	7.15452e-05	11	28				
HAPLN1	1404	broad.mit.edu	37	5	82937463	82937463	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr5:82937463G>A	ENST00000274341.4	-	5	1767	c.917C>T	c.(916-918)gCg>gTg	p.A306V		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	306	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CAACCAGCCCGCATCACAGCG	0.557																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(916-918)gCg>gTg		hyaluronan and proteoglycan link protein 1							117.0	121.0	119.0					5																	82937463		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937463G>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.917C>T	5.37:g.82937463G>A	ENSP00000274341:p.Ala306Val						p.A306V	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	5	1767	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	306			Link 2.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.917C>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108966	0.77096	.	.	ENSG00000145681	ENST00000274341	T	0.33865	1.39	5.22	5.22	0.72569	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.048877	0.85682	D	0.000000	T	0.60741	0.2292	M	0.80422	2.495	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.63554	-0.6611	10	0.52906	T	0.07	.	14.7356	0.69414	0.0:0.1443:0.8557:0.0	.	306	P10915	HPLN1_HUMAN	V	306	ENSP00000274341:A306V	ENSP00000274341:A306V	A	-	2	0	HAPLN1	82973219	1.000000	0.71417	0.972000	0.41901	0.938000	0.57974	7.826000	0.86716	2.581000	0.87130	0.655000	0.94253	GCG		0.557	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		5	213	0	0	0	1	0	5	213				
MYO15A	51168	broad.mit.edu	37	17	18052096	18052096	+	Silent	SNP	C	C	T	rs372462304		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr17:18052096C>T	ENST00000205890.5	+	33	7124	c.6786C>T	c.(6784-6786)cgC>cgT	p.R2262R	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2262	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATGGCTGGCGCGGCTGGACCG	0.602																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(6784-6786)cgC>cgT		myosin XVA				1,4111		0,1,2055	15.0	18.0	17.0		6786	-5.2	1.0	17		17	0,8392		0,0,4196	no	coding-synonymous	MYO15A	NM_016239.3		0,1,6251	TT,TC,CC		0.0,0.0243,0.0080		2262/3531	18052096	1,12503	2056	4196	6252	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18052096C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6786C>T	17.37:g.18052096C>T							p.R2262R	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			33	7124	+	all_neural(463;0.228)		2262			Tail.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.6786C>T	CCDS42271.1																																																																																				0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		10	10	0	0	0	1	0	10	10				
GOLGA6L7P	728310	broad.mit.edu	37	15	29093747	29093747	+	RNA	SNP	G	G	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr15:29093747G>A	ENST00000569815.1	-	0	74					NR_047567.1				golgin A6 family-like 7, pseudogene																		TCCAGGCGAGGACAGTGATAT	0.562																																						ENST00000569815.1																			0																																																			0							g.chr15:29093747G>A	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29093747G>A								NR_047567.1						0	74	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.562	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		3	6	0	0	0	1	0	3	6				
PIK3CD	5293	broad.mit.edu	37	1	9777159	9777159	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:9777159C>T	ENST00000377346.4	+	7	1118	c.923C>T	c.(922-924)gCg>gTg	p.A308V	PIK3CD_ENST00000361110.2_Missense_Mutation_p.A273V|PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000536656.1_Missense_Mutation_p.A273V	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	308					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CCCATTCCTGCGAAGAAGGTG	0.632																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(817-819)gCg>gTg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							114.0	104.0	107.0					1																	9777159		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9777159C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.923C>T	1.37:g.9777159C>T	ENSP00000366563:p.Ala308Val					PIK3CD_ENST00000377346.4_Missense_Mutation_p.A308V|PIK3CD_ENST00000361110.2_Missense_Mutation_p.A273V	p.A273V			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	7	1026	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	308					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.818C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858504	0.17178	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.67523	-0.27;-0.27;-0.27	4.97	0.675	0.17952	.	.	.	.	.	T	0.34774	0.0909	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.03514	-1.1029	9	0.21540	T	0.41	-1.1165	4.2323	0.10610	0.2009:0.396:0.0:0.4031	.	308;273;308	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	V	273;308;273;273	ENSP00000446444:A273V;ENSP00000366563:A308V;ENSP00000354410:A273V	ENSP00000353766:A273V	A	+	2	0	PIK3CD	9699746	0.977000	0.34250	0.024000	0.17045	0.006000	0.05464	2.028000	0.41088	-0.143000	0.11334	-0.339000	0.08088	GCG		0.632	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		4	46	0	0	0	1	0	4	46				
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	lincRNA	INS	-	-	TG	rs370521196|rs376899040		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252																																						ENST00000428624.1																			0																																																			0							g.chr1:143391935_143391936insTG																													1.37:g.143391935_143391936insTG						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	INS	ENST00000428624.1	37																																																																																						0.252	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			4	7						4	7	---	---	---	---
PLEKHA8P1	51054	broad.mit.edu	37	12	45566877	45566878	+	RNA	INS	-	-	T	rs545913310	byFrequency	TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:45566877_45566878insT	ENST00000256692.5	-	0	1807_1808					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ttttatttttatttttttttAC	0.302																																						ENST00000256692.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26																																														0							g.chr12:45566877_45566878insT	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45566886_45566886dupT								NR_037144.1						0	1807_1808	-									RNA	INS	ENST00000256692.5	37																																																																																						0.302	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		2	4						2	4	---	---	---	---
C14orf79	122616	broad.mit.edu	37	14	105461072	105461072	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr14:105461072delA	ENST00000547315.1	+	5	1593	c.954delA	c.(952-954)acafs	p.T318fs	C14orf79_ENST00000550614.1_Frame_Shift_Del_p.T76fs|C14orf79_ENST00000549240.1_Frame_Shift_Del_p.T76fs|C14orf79_ENST00000549584.1_Intron	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	318										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TCAAACTGACACTCTTTAATA	0.473																																						ENST00000549240.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.(226-228)acfs		chromosome 14 open reading frame 79							72.0	72.0	72.0					14																	105461072		1916	4137	6053	SO:0001589	frameshift_variant	122616							g.chr14:105461072delA		CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.954delA	14.37:g.105461072delA	ENSP00000450114:p.Thr318fs					C14orf79_ENST00000550614.1_Frame_Shift_Del_p.T76fs|C14orf79_ENST00000549584.1_Intron|C14orf79_ENST00000547315.1_Frame_Shift_Del_p.T318fs	p.T76fs			Q96F83	CN079_HUMAN	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		3	2036	+		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	318					B2RPK9|Q9BTP4	Frame_Shift_Del	DEL	ENST00000547315.1	37	c.228delA	CCDS42000.1																																																																																				0.473	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		35	48						35	48	---	---	---	---
MYLK3	91807	broad.mit.edu	37	16	46772020	46772020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr16:46772020delC	ENST00000394809.4	-	3	719	c.604delG	c.(604-606)gagfs	p.E202fs	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	202					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGCAGCCTCTCCGCTGTCCCC	0.637																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(604-606)agfs		myosin light chain kinase 3							11.0	11.0	11.0					16																	46772020		2125	4192	6317	SO:0001589	frameshift_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46772020delC	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.604delG	16.37:g.46772020delC	ENSP00000378288:p.Glu202fs					MYLK3_ENST00000536476.1_Intron	p.E202fs	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			3	719	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	202					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Frame_Shift_Del	DEL	ENST00000394809.4	37	c.604delG	CCDS10723.2																																																																																				0.637	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		9	16						9	16	---	---	---	---
LGALS13	29124	broad.mit.edu	37	19	40095282	40095282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr19:40095282delG	ENST00000221797.4	+	2	101	c.56delG	c.(55-57)tgcfs	p.C19fs		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	19	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			GTTGGTTCCTGCGTGATAATC	0.483																																						ENST00000221797.4																			0				lung(5)|ovary(1)|urinary_tract(1)	7						c.(55-57)tcfs		lectin, galactoside-binding, soluble, 13							188.0	159.0	169.0					19																	40095282		2203	4300	6503	SO:0001589	frameshift_variant	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40095282delG	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.56delG	19.37:g.40095282delG	ENSP00000221797:p.Cys19fs						p.C19fs	NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		2	101	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		19			Galectin.		C5HZ15	Frame_Shift_Del	DEL	ENST00000221797.4	37	c.56delG	CCDS33024.1																																																																																				0.483	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		45	95						45	95	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70470452	70470480	+	Frame_Shift_Del	DEL	CCCGGCCCTTTGTGACACACTTGAGCGTA	CCCGGCCCTTTGTGACACACTTGAGCGTA	-	rs377219001		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chrX:70470452_70470480delCCCGGCCCTTTGTGACACACTTGAGCGTA	ENST00000353904.2	-	5	1062_1090	c.875_903delTACGCTCAAGTGTGTCACAAAGGGCCGGG	c.(874-903)ctacgctcaagtgtgtcacaaagggccgggfs	p.LRSSVSQRAG292fs	ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.LRSSVSQRAG294fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	292					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGCAGAGCGCCCGGCCCTTTGTGACACACTTGAGCGTAGGGACATGCG	0.581																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(874-903)cfs		zinc finger, MYM-type 3																																				SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70470452_70470480delCCCGGCCCTTTGTGACACACTTGAGCGTA	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.875_903delTACGCTCAAGTGTGTCACAAAGGGCCGGG	X.37:g.70470452_70470480delCCCGGCCCTTTGTGACACACTTGAGCGTA	ENSP00000343909:p.Leu292fs					ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.LRSSVSQRAG292fs	p.LRSSVSQRAG292fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			5	1572_1600	-	Renal(35;0.156)		292					D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	ENST00000353904.2	37	c.875_903delTACGCTCAAGTGTGTCACAAAGGGCCGGG	CCDS14409.1																																																																																				0.581	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		2	4						2	4	---	---	---	---
