#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
ABCA13	154664	broad.mit.edu	37	7	48321025	48321025	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr7:48321025G>A	ENST00000435803.1	+	19	8836	c.8812G>A	c.(8812-8814)Gta>Ata	p.V2938I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2938					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATGATGGTCGTACGTGTGCT	0.463																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(8812-8814)Gta>Ata		ATP-binding cassette, sub-family A (ABC1), member 13							114.0	114.0	114.0					7																	48321025		2025	4203	6228	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48321025G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8812G>A	7.37:g.48321025G>A	ENSP00000411096:p.Val2938Ile						p.V2938I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			19	8836	+			2938					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.8812G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517868	0.27211	.	.	ENSG00000179869	ENST00000435803	D	0.85258	-1.96	4.81	-9.62	0.00547	.	1.117230	0.06969	N	0.817816	T	0.60881	0.2303	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51741	-0.8667	10	0.59425	D	0.04	.	0.6727	0.00861	0.1994:0.1738:0.1994:0.4274	.	640;2938	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	I	2938	ENSP00000411096:V2938I	ENSP00000411096:V2938I	V	+	1	0	ABCA13	48291571	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.584000	0.05800	-2.015000	0.00947	-2.225000	0.00294	GTA		0.463	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	10	0	0	0	1	0	4	10				
NRXN3	9369	broad.mit.edu	37	14	79434626	79434626	+	Missense_Mutation	SNP	C	C	T	rs140301017		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr14:79434626C>T	ENST00000554719.1	+	11	2451	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	260					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTGAATGGACGCCTGCCAGA	0.522																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(1960-1962)Cgc>Tgc		neurexin 3		C	CYS/ARG	0,4406		0,0,2203	136.0	116.0	122.0		1960	6.0	1.0	14	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRXN3	NM_004796.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	654/1062	79434626	1,13005	2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79434626C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1960C>T	14.37:g.79434626C>T	ENSP00000451648:p.Arg654Cys					NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	p.R654C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	11	2451	+		Renal(4;0.00876)	260					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1960C>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587372	0.96590	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.76968	-1.06;-1.06	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	.	.	.	0.80722	D	1	D;P	0.89917	1.0;0.813	D;B	0.91635	0.999;0.076	D	0.87571	0.2478	8	.	.	.	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1027;654	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	C	1027;1016;654;654	ENSP00000451648:R654C;ENSP00000338349:R654C	.	R	+	1	0	NRXN3	78504379	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	CGC		0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		18	34	0	0	0	1	0	18	34				
EBF1	1879	broad.mit.edu	37	5	158223441	158223441	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr5:158223441G>A	ENST00000313708.6	-	9	1103	c.821C>T	c.(820-822)aCg>aTg	p.T274M	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.T266M|EBF1_ENST00000380654.4_Missense_Mutation_p.T243M	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	274	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTCCCGTCGTCCATCCTTC	0.468			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(820-822)aCg>aTg		early B-cell factor 1							123.0	100.0	108.0					5																	158223441		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158223441G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.821C>T	5.37:g.158223441G>A	ENSP00000322898:p.Thr274Met					EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.T266M|EBF1_ENST00000380654.4_Missense_Mutation_p.T243M	p.T274M	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1103	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	274			IPT/TIG.		Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.821C>T	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751221	0.89753	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.77489	0.94;-1.1;-1.1	5.68	5.68	0.88126	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	L	0.55103	1.725	0.80722	D	1	D;D;D;D	0.89917	0.961;1.0;1.0;0.999	P;D;D;P	0.85130	0.453;0.992;0.997;0.906	D	0.85827	0.1389	10	0.54805	T	0.06	-5.6021	20.1615	0.98135	0.0:0.0:1.0:0.0	.	274;261;274;243	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	M	274;274;243;266	ENSP00000322898:T274M;ENSP00000370029:T243M;ENSP00000428020:T266M	ENSP00000322898:T274M	T	-	2	0	EBF1	158156019	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	ACG		0.468	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		22	51	0	0	0	1	0	22	51				
MBD5	55777	broad.mit.edu	37	2	149221402	149221402	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr2:149221402G>A	ENST00000407073.1	+	8	1308	c.311G>A	c.(310-312)aGa>aAa	p.R104K	MBD5_ENST00000404807.1_Missense_Mutation_p.R104K	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	104					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATACATAAAAGAAAAATTATT	0.428																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(310-312)aGa>aAa		methyl-CpG binding domain protein 5							83.0	88.0	86.0					2																	149221402		2203	4299	6502	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149221402G>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.311G>A	2.37:g.149221402G>A	ENSP00000386049:p.Arg104Lys					MBD5_ENST00000404807.1_Missense_Mutation_p.R104K	p.R104K	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	8	1308	+			104					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.311G>A	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274950	0.95459	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.68025	-0.29;-0.3	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	T	0.81103	0.4753	M	0.61703	1.905	0.80722	D	1	D	0.61697	0.99	D	0.73380	0.98	T	0.80407	-0.1395	10	0.59425	D	0.04	-9.1396	20.2825	0.98528	0.0:0.0:1.0:0.0	.	104	Q9P267	MBD5_HUMAN	K	104	ENSP00000386049:R104K;ENSP00000384672:R104K	ENSP00000384672:R104K	R	+	2	0	MBD5	148937872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.873000	0.98535	0.561000	0.74099	AGA		0.428	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			26	33	0	0	0	1	0	26	33				
DMGDH	29958	broad.mit.edu	37	5	78351638	78351638	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr5:78351638C>A	ENST00000255189.3	-	3	398	c.370G>T	c.(370-372)Ggt>Tgt	p.G124C	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000520388.1_5'Flank	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	124					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTTACCTGACCAGTTTCTTCT	0.348																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(370-372)Ggt>Tgt		dimethylglycine dehydrogenase							93.0	95.0	94.0					5																	78351638		2202	4298	6500	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78351638C>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.370G>T	5.37:g.78351638C>A	ENSP00000255189:p.Gly124Cys					DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	p.G124C	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	3	398	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	124					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.370G>T	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207893	0.95033	.	.	ENSG00000132837	ENST00000255189	D	0.85088	-1.94	6.16	6.16	0.99307	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.94578	0.8253	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94521	0.7727	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	124	Q9UI17	M2GD_HUMAN	C	124	ENSP00000255189:G124C	ENSP00000255189:G124C	G	-	1	0	DMGDH	78387394	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	7.692000	0.84203	2.937000	0.99478	0.650000	0.86243	GGT		0.348	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		4	15	1	0	0.150653	1	0.150653	4	15				
CACNA1E	777	broad.mit.edu	37	1	181702679	181702679	+	Missense_Mutation	SNP	G	G	A	rs547399351		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr1:181702679G>A	ENST00000367573.2	+	21	3055	c.3055G>A	c.(3055-3057)Gtg>Atg	p.V1019M	CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1019M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V626M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1000M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V970M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1000M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V951M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1019					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.V1019M(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGGGAAGCACGTGGTGCTGAC	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20352	0.0		0.0	False		,,,				2504	0.0					ENST00000526775.1																			1	Substitution - Missense(1)	p.V1019M(1)	ovary(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2998-3000)Gtg>Atg		calcium channel, voltage-dependent, R type, alpha 1E subunit							46.0	54.0	52.0					1																	181702679		2179	4271	6450	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702679G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3055G>A	1.37:g.181702679G>A	ENSP00000356545:p.Val1019Met					CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1019M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1019M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V951M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V626M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V970M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1000M	p.V1000M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			20	3163	+			1019					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2998G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	6.503	0.461044	0.12342	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96200	-3.88;-3.87;-3.88;-3.87;-3.94;-3.88;-3.88	4.72	-1.64	0.08318	.	1.749810	0.02299	N	0.070996	D	0.87916	0.6298	N	0.08118	0	0.09310	N	1	P;B;B	0.36733	0.567;0.431;0.001	B;B;B	0.26310	0.068;0.032;0.001	T	0.80491	-0.1359	10	0.33141	T	0.24	.	12.1674	0.54138	0.4047:0.0:0.5953:0.0	.	1000;1019;1019	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	M	1019;1000;970;951;626;1000;1019	ENSP00000356542:V1019M;ENSP00000434814:V1000M;ENSP00000350183:V970M;ENSP00000351101:V951M;ENSP00000356539:V626M;ENSP00000353222:V1000M;ENSP00000356545:V1019M	ENSP00000350183:V970M	V	+	1	0	CACNA1E	179969302	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.171000	0.16685	-0.490000	0.06707	-1.598000	0.00824	GTG		0.642	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		15	20	0	0	0	1	0	15	20				
F13A1	2162	broad.mit.edu	37	6	6197460	6197460	+	Silent	SNP	G	G	A	rs537966361		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr6:6197460G>A	ENST00000264870.3	-	9	1477	c.1212C>T	c.(1210-1212)agC>agT	p.S404S		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	404					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTTTACCATCGCTATTTTCCT	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19920	0.001		0.0	False		,,,				2504	0.0					ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(1210-1212)agC>agT		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						82.0	77.0	78.0					6																	6197460		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6197460G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1212C>T	6.37:g.6197460G>A							p.S404S	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			9	1477	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	404					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.1212C>T	CCDS4496.1																																																																																				0.502	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		4	40	0	0	0	1	0	4	40				
FNDC1	84624	broad.mit.edu	37	6	159653362	159653362	+	Silent	SNP	G	G	A			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr6:159653362G>A	ENST00000297267.9	+	11	2018	c.1818G>A	c.(1816-1818)acG>acA	p.T606T	FNDC1_ENST00000340366.6_Silent_p.T543T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	606					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCTGGCCACGCAGCCCCGCC	0.701																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1816-1818)acG>acA		fibronectin type III domain containing 1							19.0	24.0	22.0					6																	159653362		1990	4156	6146	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653362G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1818G>A	6.37:g.159653362G>A						FNDC1_ENST00000340366.6_Silent_p.T543T	p.T606T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2018	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	606					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.1818G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	4.555	0.103003	0.08731	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.64	-7.27	0.01461	.	.	.	.	.	T	0.11067	0.0270	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	-0.4912	8.6267	0.33895	0.0:0.1554:0.4064:0.4381	.	.	.	.	T	502	.	.	A	+	1	0	FNDC1	159573352	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.018000	0.03626	-1.564000	0.01678	-1.351000	0.01236	GCA		0.701	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		15	16	0	0	0	1	0	15	16				
DLG4	1742	broad.mit.edu	37	17	7096281	7096281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr17:7096281G>A	ENST00000399506.2	-	17	2040	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	DLG4_ENST00000302955.6_Nonsense_Mutation_p.R614*|DLG4_ENST00000399510.2_Nonsense_Mutation_p.R660*			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	617	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GCCACCTCTCGCACGGACTGG	0.612																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(1978-1980)Cga>Tga		discs, large homolog 4 (Drosophila)							40.0	44.0	43.0					17																	7096281		2022	4173	6195	SO:0001587	stop_gained	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7096281G>A	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1849C>T	17.37:g.7096281G>A	ENSP00000382425:p.Arg617*					DLG4_ENST00000399506.2_Nonsense_Mutation_p.R617*|DLG4_ENST00000302955.6_Nonsense_Mutation_p.R614*	p.R660*	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			19	2830	-			617			Guanylate kinase-like.		B7Z1S1|G5E939|Q92941|Q9UKK8	Nonsense_Mutation	SNP	ENST00000399506.2	37	c.1978C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.415455	0.98801	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	.	.	.	4.2	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8706	0.46881	0.0:0.0:0.8101:0.1899	.	.	.	.	X	617;614;660;660;557;660	.	ENSP00000293813:R660X	R	-	1	2	DLG4	7037005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.397000	0.79903	0.951000	0.37770	0.643000	0.83706	CGA		0.612	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		10	10	0	0	0	1	0	10	10				
CLCA2	9635	broad.mit.edu	37	1	86900300	86900300	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr1:86900300T>G	ENST00000370565.4	+	6	1006	c.844T>G	c.(844-846)Tct>Gct	p.S282A		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	282					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AATCACAGACTCTGCTGACTT	0.483																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(844-846)Tct>Gct		chloride channel accessory 2							209.0	178.0	189.0					1																	86900300		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86900300T>G		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.844T>G	1.37:g.86900300T>G	ENSP00000359596:p.Ser282Ala						p.S282A	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	6	1006	+		Lung NSC(277;0.238)	282					A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.844T>G	CCDS708.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.137581	0.77775	.	.	ENSG00000137975	ENST00000370565	T	0.03524	3.9	6.17	6.17	0.99709	.	0.144152	0.50627	D	0.000104	T	0.14013	0.0339	M	0.89287	3.02	0.38353	D	0.944395	D	0.76494	0.999	D	0.65874	0.939	T	0.03077	-1.1075	10	0.38643	T	0.18	-21.1257	16.4837	0.84171	0.0:0.0:0.0:1.0	.	282	Q9UQC9	CLCA2_HUMAN	A	282	ENSP00000359596:S282A	ENSP00000359596:S282A	S	+	1	0	CLCA2	86672888	0.990000	0.36364	0.466000	0.27168	0.070000	0.16714	4.116000	0.57871	2.371000	0.80710	0.533000	0.62120	TCT		0.483	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		6	70	0	0	0	1	0	6	70				
SIGLEC1	6614	broad.mit.edu	37	20	3673674	3673674	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr20:3673674G>A	ENST00000344754.4	-	14	3612	c.3613C>T	c.(3613-3615)Ctc>Ttc	p.L1205F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1205F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1205	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCGTGGCTGAGGGCCAGCTGG	0.706																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3613-3615)Ctc>Ttc		sialic acid binding Ig-like lectin 1, sialoadhesin							13.0	18.0	16.0					20																	3673674		2173	4270	6443	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673674G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3613C>T	20.37:g.3673674G>A	ENSP00000341141:p.Leu1205Phe					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1205F	p.L1205F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			14	3612	-			1205			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3613C>T	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.91|15.91	2.970979|2.970979	0.53614|0.53614	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000344754;ENST00000202578|ENST00000419548	T;T|.	0.16073|.	2.37;2.37|.	4.74|4.74	1.37|1.37	0.22104|0.22104	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.35870|.	N|.	0.002930|.	T|T	0.53546|0.53546	0.1803|0.1803	M|M	0.79693|0.79693	2.465|2.465	0.31406|0.31406	N|N	0.676079|0.676079	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.70935|.	0.971;0.951|.	T|T	0.57843|0.57843	-0.7741|-0.7741	10|5	0.62326|.	D|.	0.03|.	.|.	4.2731|4.2731	0.10796|0.10796	0.113:0.0:0.4782:0.4089|0.113:0.0:0.4782:0.4089	.|.	1205;1205|.	Q9BZZ2;Q9BZZ2-3|.	SN_HUMAN;.|.	F|L	1205|18	ENSP00000341141:L1205F;ENSP00000202578:L1205F|.	ENSP00000202578:L1205F|.	L|P	-|-	1|2	0|0	SIGLEC1|SIGLEC1	3621674|3621674	0.970000|0.970000	0.33590|0.33590	0.999000|0.999000	0.59377|0.59377	0.618000|0.618000	0.37518|0.37518	0.751000|0.751000	0.26348|0.26348	0.568000|0.568000	0.29311|0.29311	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.706	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		18	18	0	0	0	1	0	18	18				
TUBB3	10381	broad.mit.edu	37	16	89999982	89999982	+	Silent	SNP	C	C	T			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr16:89999982C>T	ENST00000315491.7	+	3	396	c.273C>T	c.(271-273)atC>atT	p.I91I	TUBB3_ENST00000553967.1_Silent_p.I91I|TUBB3_ENST00000555576.1_Silent_p.I91I|TUBB3_ENST00000554444.1_Silent_p.I19I|TUBB3_ENST00000304984.5_Silent_p.I19I|TUBB3_ENST00000554336.1_Silent_p.I91I|TUBB3_ENST00000556922.1_Silent_p.I438I	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	91					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	ACAATTTCATCTTTGGTAAGT	0.572																																						ENST00000304984.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(55-57)atC>atT		tubulin, beta 3 class III							143.0	135.0	137.0					16																	89999982		2198	4300	6498	SO:0001819	synonymous_variant	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:89999982C>T	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.273C>T	16.37:g.89999982C>T						TUBB3_ENST00000556922.1_Silent_p.I438I|TUBB3_ENST00000554336.1_Silent_p.I91I|TUBB3_ENST00000315491.7_Silent_p.I91I|TUBB3_ENST00000555576.1_Silent_p.I91I|TUBB3_ENST00000553967.1_Silent_p.I91I|TUBB3_ENST00000554444.1_Silent_p.I19I	p.I19I			Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	2	2352	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	91					A8K854|Q9BTZ0|Q9BW10	Silent	SNP	ENST00000315491.7	37	c.57C>T	CCDS10988.1																																																																																				0.572	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		33	17	0	0	0	1	0	33	17				
POMT1	10585	broad.mit.edu	37	9	134379661	134379661	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr9:134379661T>A	ENST00000372228.3	+	2	235	c.56T>A	c.(55-57)cTt>cAt	p.L19H	POMT1_ENST00000541219.1_Intron|POMT1_ENST00000354713.4_Missense_Mutation_p.L19H|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000423007.1_Missense_Mutation_p.L19H|POMT1_ENST00000404875.2_Intron|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000402686.3_Missense_Mutation_p.L19H	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	19					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AACTTGAGCCTTGTGGCCCTG	0.557											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(55-57)cTt>cAt		protein-O-mannosyltransferase 1							169.0	140.0	150.0					9																	134379661		2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134379661T>A	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.56T>A	9.37:g.134379661T>A	ENSP00000361302:p.Leu19His		OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	POMT1_ENST00000341012.7_Intron|POMT1_ENST00000354713.4_Missense_Mutation_p.L19H|POMT1_ENST00000402686.3_Missense_Mutation_p.L19H|POMT1_ENST00000372228.3_Missense_Mutation_p.L19H|POMT1_ENST00000404875.2_Intron|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000419118.2_Intron	p.L19H	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	2	498	+		Myeloproliferative disorder(178;0.204)	19					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.56T>A	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.720209	0.30503	.	.	ENSG00000130714	ENST00000423007;ENST00000372228;ENST00000402686;ENST00000354713;ENST00000418774	D;D;D;D;T	0.86562	-1.87;-1.85;-1.87;-2.14;-1.34	5.02	3.84	0.44239	.	0.804834	0.11102	N	0.599565	D	0.92322	0.7564	M	0.89785	3.06	0.42210	D	0.991806	P;D;D;P	0.67145	0.895;0.996;0.992;0.759	P;P;P;P	0.55871	0.497;0.786;0.691;0.669	D	0.88075	0.2803	10	0.23302	T	0.38	-16.732	10.9689	0.47428	0.0:0.0:0.1571:0.8429	.	19;19;19;19	B4DTW4;B4DWD8;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	H	19	ENSP00000404119:L19H;ENSP00000361302:L19H;ENSP00000385797:L19H;ENSP00000346748:L19H;ENSP00000390737:L19H	ENSP00000346748:L19H	L	+	2	0	POMT1	133369482	0.666000	0.27475	0.001000	0.08648	0.004000	0.04260	5.047000	0.64232	0.714000	0.32081	0.533000	0.62120	CTT		0.557	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		4	117	0	0	0	1	0	4	117				
C15orf40	123207	broad.mit.edu	37	15	83677356	83677356	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr15:83677356A>G	ENST00000513601.2	-	3	317	c.310T>C	c.(310-312)Tgt>Cgt	p.C104R	C15orf40_ENST00000538348.2_Missense_Mutation_p.C104R|C15orf40_ENST00000565712.1_Intron|C15orf40_ENST00000304177.5_Missense_Mutation_p.C77R|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000451195.3_Missense_Mutation_p.C104R			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	104										large_intestine(3)|lung(2)|skin(1)	6						AGATACCGACAGAGCTCAGCA	0.428																																						ENST00000304177.5																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(229-231)Tgt>Cgt		chromosome 15 open reading frame 40							109.0	99.0	103.0					15																	83677356		2203	4300	6503	SO:0001583	missense	123207							g.chr15:83677356A>G	BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.310T>C	15.37:g.83677356A>G	ENSP00000424666:p.Cys104Arg					C15orf40_ENST00000451195.3_Missense_Mutation_p.C104R|C15orf40_ENST00000513601.2_Missense_Mutation_p.C104R|C15orf40_ENST00000538348.2_Missense_Mutation_p.C104R|C15orf40_ENST00000565712.1_Intron|RP11-382A20.5_ENST00000566841.1_RNA	p.C77R	NM_001160114.1|NM_144597.2	NP_001153586.1|NP_653198.2	Q8WUR7	CO040_HUMAN			3	343	-			77					A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Missense_Mutation	SNP	ENST00000513601.2	37	c.229T>C	CCDS32312.2	.	.	.	.	.	.	.	.	.	.	A	22.1	4.239103	0.79800	.	.	ENSG00000169609	ENST00000538348;ENST00000451195;ENST00000304177;ENST00000513601	.	.	.	5.54	5.54	0.83059	.	0.152428	0.64402	D	0.000010	T	0.69015	0.3064	L	0.46947	1.48	0.80722	D	1	P;D;D;D	0.61080	0.947;0.981;0.989;0.988	P;P;D;P	0.65140	0.849;0.831;0.932;0.851	T	0.70970	-0.4727	9	0.59425	D	0.04	-12.3929	15.971	0.80019	1.0:0.0:0.0:0.0	.	77;104;104;104	Q8WUR7;F8WD31;F5GX92;G5EA00	CO040_HUMAN;.;.;.	R	104;104;77;104	.	ENSP00000307071:C77R	C	-	1	0	C15orf40	81468360	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	2.655000	0.46707	2.223000	0.72356	0.533000	0.62120	TGT		0.428	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597		6	56	0	0	0	1	0	6	56				
FHL5	9457	broad.mit.edu	37	6	97058500	97058500	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr6:97058500G>T	ENST00000326771.2	+	6	937	c.557G>T	c.(556-558)tGt>tTt	p.C186F	FHL5_ENST00000541107.1_Missense_Mutation_p.C186F	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	186	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CATAAAGAGTGTTTTCTGTGT	0.443																																						ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(556-558)tGt>tTt		four and a half LIM domains 5							287.0	264.0	272.0					6																	97058500		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97058500G>T	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.557G>T	6.37:g.97058500G>T	ENSP00000326022:p.Cys186Phe					FHL5_ENST00000541107.1_Missense_Mutation_p.C186F	p.C186F	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	6	937	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	186			LIM zinc-binding 3.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.557G>T	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628505	0.87560	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.95412	-3.7;-3.7;-3.7	5.64	5.64	0.86602	Zinc finger, LIM-type (5);	0.000000	0.45606	D	0.000347	D	0.99217	0.9728	H	0.99946	5.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98595	1.0656	10	0.87932	D	0	.	19.7081	0.96082	0.0:0.0:1.0:0.0	.	186	Q5TD97	FHL5_HUMAN	F	186	ENSP00000442357:C186F;ENSP00000326022:C186F;ENSP00000396390:C186F	ENSP00000326022:C186F	C	+	2	0	FHL5	97165221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.430000	0.97488	2.675000	0.91044	0.650000	0.86243	TGT		0.443	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		53	82	1	0	3.40343e-31	1	4.06931e-31	53	82				
GLDC	2731	broad.mit.edu	37	9	6536172	6536172	+	Silent	SNP	C	C	T	rs144937031	byFrequency	TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr9:6536172C>T	ENST00000321612.6	-	23	2880	c.2730G>A	c.(2728-2730)tcG>tcA	p.S910S		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	910					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CCTTGTCCTCCGACTCAGTGG	0.572													C|||	3	0.000599042	0.0008	0.0	5008	,	,		18253	0.0		0.002	False		,,,				2504	0.0					ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2728-2730)tcG>tcA		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	C		2,4404	4.2+/-10.8	0,2,2201	49.0	40.0	43.0		2730	-10.7	0.8	9	dbSNP_134	43	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	GLDC	NM_000170.2		0,11,6492	TT,TC,CC		0.1047,0.0454,0.0846		910/1021	6536172	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6536172C>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2730G>A	9.37:g.6536172C>T							p.S910S	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	23	2880	-		Acute lymphoblastic leukemia(23;0.161)	910					Q2M2F8	Silent	SNP	ENST00000321612.6	37	c.2730G>A	CCDS34987.1																																																																																				0.572	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		4	22	0	0	0	1	0	4	22				
LTBP4	8425	broad.mit.edu	37	19	41135318	41135318	+	Nonsense_Mutation	SNP	G	G	T	rs543939793		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr19:41135318G>T	ENST00000308370.7	+	34	4735	c.4735G>T	c.(4735-4737)Gag>Tag	p.E1579*	LTBP4_ENST00000204005.9_Nonsense_Mutation_p.E1542*|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Nonsense_Mutation_p.E1512*|LTBP4_ENST00000243562.9_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1580	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAGTGTGATGAGGCCGAGGC	0.637																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4735-4737)Gag>Tag		latent transforming growth factor beta binding protein 4							50.0	54.0	52.0					19																	41135318		2159	4260	6419	SO:0001587	stop_gained	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41135318G>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4735G>T	19.37:g.41135318G>T	ENSP00000311905:p.Glu1579*					LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Nonsense_Mutation_p.E1512*|LTBP4_ENST00000204005.9_Nonsense_Mutation_p.E1542*|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR	p.E1579*	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		34	4735	+			1580			EGF-like 16.		O00508|O75412|O75413	Nonsense_Mutation	SNP	ENST00000308370.7	37	c.4735G>T		.	.	.	.	.	.	.	.	.	.	G	41	8.739644	0.98935	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819;ENST00000318809	.	.	.	3.75	3.75	0.43078	.	0.000000	0.38897	N	0.001538	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	14.8391	0.70209	0.0:0.0:1.0:0.0	.	.	.	.	X	1542;1579;1512;340	.	ENSP00000204005:E1542X	E	+	1	0	LTBP4	45827158	1.000000	0.71417	0.959000	0.39883	0.519000	0.34347	9.282000	0.95840	2.100000	0.63781	0.514000	0.50259	GAG		0.637	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		13	47	1	0	1.5739e-10	1	1.80342e-10	13	47				
HOXD9	3235	broad.mit.edu	37	2	176987556	176987556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr2:176987556C>A	ENST00000249499.6	+	1	469	c.60C>A	c.(58-60)taC>taA	p.Y20*	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	20					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TCAGCAACTACTACGTGGACT	0.692																																					GBM(47;924 952 7959 9248 12176)	ENST00000249499.6																			0				endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10						c.(58-60)taC>taA		homeobox D9							31.0	31.0	31.0					2																	176987556		2203	4300	6503	SO:0001587	stop_gained	3235					nucleus	sequence-specific DNA binding	g.chr2:176987556C>A		CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"""Homeoboxes / ANTP class : HOXL subclass"""	5140	protein-coding gene	gene with protein product		142982	"""homeo box D9"""	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.60C>A	2.37:g.176987556C>A	ENSP00000249499:p.Tyr20*					HOXD-AS2_ENST00000440016.2_RNA	p.Y20*	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	469	+			20					Q86ST1	Nonsense_Mutation	SNP	ENST00000249499.6	37	c.60C>A	CCDS2267.2	.	.	.	.	.	.	.	.	.	.	C	38	6.879020	0.97904	.	.	ENSG00000128709	ENST00000249499	.	.	.	4.3	3.42	0.39159	.	0.337787	0.21560	N	0.072594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5391	0.27727	0.0:0.7184:0.0:0.2816	.	.	.	.	X	20	.	ENSP00000249499:Y20X	Y	+	3	2	HOXD9	176695802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.966000	0.29331	1.153000	0.42468	0.511000	0.50034	TAC		0.692	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4			6	13	1	0	3.59834e-05	1	3.80593e-05	6	13				
LILRA4	23547	broad.mit.edu	37	19	54849922	54849922	+	Missense_Mutation	SNP	C	C	T	rs560878491		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr19:54849922C>T	ENST00000291759.4	-	3	156	c.100G>A	c.(100-102)Gag>Aag	p.E34K	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	34	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGACCTGGCTCGGCCCACAGG	0.572											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C|||	1	0.000199681	0.0	0.0	5008	,	,		19641	0.0		0.0	False		,,,				2504	0.001					ENST00000291759.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(100-102)Gag>Aag		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							68.0	64.0	65.0					19																	54849922		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54849922C>T	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.100G>A	19.37:g.54849922C>T	ENSP00000291759:p.Glu34Lys		OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1003		p.E34K	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	3	156	-	Ovarian(34;0.19)		34			Ig-like C2-type 1.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.100G>A	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	19.30	3.801172	0.70567	.	.	ENSG00000239961	ENST00000291759	T	0.14022	2.54	2.5	2.5	0.30297	Immunoglobulin-like fold (1);	0.117789	0.38111	N	0.001805	T	0.32704	0.0838	M	0.76838	2.35	0.25443	N	0.988072	D	0.89917	1.0	D	0.72338	0.977	T	0.02015	-1.1229	10	0.87932	D	0	.	8.6093	0.33793	0.0:1.0:0.0:0.0	.	34	P59901	LIRA4_HUMAN	K	34	ENSP00000291759:E34K	ENSP00000291759:E34K	E	-	1	0	LILRA4	59541734	0.048000	0.20356	0.848000	0.33437	0.044000	0.14063	0.896000	0.28377	1.699000	0.51192	0.557000	0.71058	GAG		0.572	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		15	35	0	0	0	1	0	15	35				
ATIC	471	broad.mit.edu	37	2	216189998	216189998	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr2:216189998A>G	ENST00000236959.9	+	5	651	c.325A>G	c.(325-327)Aca>Gca	p.T109A	ATIC_ENST00000435675.1_Missense_Mutation_p.T108A|ATIC_ENST00000540518.1_Missense_Mutation_p.T50A	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	109					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CTTTGTAAAGACAGTGGCTTC	0.408			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(322-324)Aca>Gca		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						122.0	122.0	122.0					2																	216189998		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216189998A>G		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.325A>G	2.37:g.216189998A>G	ENSP00000236959:p.Thr109Ala					ATIC_ENST00000540518.1_Missense_Mutation_p.T50A|ATIC_ENST00000236959.9_Missense_Mutation_p.T109A	p.T108A			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	4	713	+		Renal(323;0.229)	109					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.322A>G	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.826889	0.50739	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000413174	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.87	5.87	0.94306	Methylglyoxal synthase-like domain (4);	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	M	0.70595	2.14	0.80722	D	1	B;B	0.25169	0.119;0.046	B;B	0.28784	0.082;0.094	T	0.81385	-0.0957	10	0.54805	T	0.06	-4.0078	16.2377	0.82389	1.0:0.0:0.0:0.0	.	108;109	E9PBU3;P31939	.;PUR9_HUMAN	A	109;50;108;50	ENSP00000236959:T109A;ENSP00000440523:T50A;ENSP00000415935:T108A;ENSP00000402393:T50A	ENSP00000236959:T109A	T	+	1	0	ATIC	215898243	1.000000	0.71417	0.998000	0.56505	0.339000	0.28857	7.303000	0.78871	2.371000	0.80710	0.533000	0.62120	ACA		0.408	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		30	47	0	0	0	1	0	30	47				
ARHGAP5	394	broad.mit.edu	37	14	32560136	32560136	+	Silent	SNP	A	A	G			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr14:32560136A>G	ENST00000345122.3	+	2	576	c.261A>G	c.(259-261)gaA>gaG	p.E87E	ARHGAP5_ENST00000432921.1_Silent_p.E87E|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.E87E|ARHGAP5_ENST00000539826.2_Silent_p.E87E	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	87					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATGGAGTAGAATGCAAAATTC	0.388																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(259-261)gaA>gaG		Rho GTPase activating protein 5							96.0	96.0	96.0					14																	32560136		2203	4299	6502	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560136A>G	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.261A>G	14.37:g.32560136A>G						ARHGAP5_ENST00000539826.2_Silent_p.E87E|ARHGAP5_ENST00000556611.1_Silent_p.E87E|ARHGAP5_ENST00000432921.1_Silent_p.E87E|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	p.E87E	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	576	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		87					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.261A>G	CCDS32062.1																																																																																				0.388	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		4	66	0	0	0	1	0	4	66				
FREM1	158326	broad.mit.edu	37	9	14801770	14801770	+	Missense_Mutation	SNP	G	G	A	rs371449178		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr9:14801770G>A	ENST00000380880.3	-	20	4357	c.3574C>T	c.(3574-3576)Cgc>Tgc	p.R1192C	FREM1_ENST00000380881.4_Missense_Mutation_p.R1193C|FREM1_ENST00000422223.2_Missense_Mutation_p.R1192C			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1192					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGCCATGGCGTGGCTTTTGA	0.527																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3577-3579)Cgc>Tgc		FRAS1 related extracellular matrix 1		G	CYS/ARG	2,4082		0,2,2040	148.0	146.0	146.0		3574	4.6	0.2	9		146	0,8426		0,0,4213	no	missense	FREM1	NM_144966.5	180	0,2,6253	AA,AG,GG		0.0,0.049,0.016	possibly-damaging	1192/2180	14801770	2,12508	2042	4213	6255	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14801770G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3574C>T	9.37:g.14801770G>A	ENSP00000370262:p.Arg1192Cys					FREM1_ENST00000380880.3_Missense_Mutation_p.R1192C|FREM1_ENST00000422223.2_Missense_Mutation_p.R1192C	p.R1193C			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	21	4392	-			1192					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.3577C>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861951	0.71949	4.9E-4	0.0	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.31769	1.48;1.48;1.48	5.51	4.6	0.57074	.	0.526027	0.22337	N	0.061381	T	0.44286	0.1286	M	0.80183	2.485	0.34696	D	0.726252	D	0.71674	0.998	P	0.51657	0.676	T	0.62148	-0.6915	10	0.59425	D	0.04	-3.6478	8.2194	0.31532	0.0854:0.0:0.7578:0.1568	.	1192	Q5H8C1	FREM1_HUMAN	C	1193;1192;1192	ENSP00000370263:R1193C;ENSP00000412940:R1192C;ENSP00000370262:R1192C	ENSP00000370257:R1195C	R	-	1	0	FREM1	14791770	0.133000	0.22466	0.195000	0.23364	0.195000	0.23768	2.872000	0.48467	1.290000	0.44636	0.591000	0.81541	CGC		0.527	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		30	41	0	0	0	1	0	30	41				
SYNE1	23345	broad.mit.edu	37	6	152652494	152652494	+	Silent	SNP	G	G	A			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr6:152652494G>A	ENST00000367255.5	-	78	13927	c.13326C>T	c.(13324-13326)ggC>ggT	p.G4442G	SYNE1_ENST00000265368.4_Silent_p.G4442G|SYNE1_ENST00000423061.1_Silent_p.G4371G|SYNE1_ENST00000341594.5_Silent_p.G4307G|SYNE1_ENST00000448038.1_Silent_p.G4371G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4442					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTCGCTGGCCCACTAAGT	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(13324-13326)ggC>ggT		spectrin repeat containing, nuclear envelope 1							100.0	91.0	94.0					6																	152652494		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652494G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13326C>T	6.37:g.152652494G>A		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.G4307G|SYNE1_ENST00000265368.4_Silent_p.G4442G|SYNE1_ENST00000448038.1_Silent_p.G4371G|SYNE1_ENST00000423061.1_Silent_p.G4371G	p.G4442G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	13927	-		Ovarian(120;0.0955)	4442					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.13326C>T	CCDS5236.2																																																																																				0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		23	43	0	0	0	1	0	23	43				
CSMD1	64478	broad.mit.edu	37	8	3205573	3205573	+	Missense_Mutation	SNP	C	C	T	rs372041329		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr8:3205573C>T	ENST00000520002.1	-	23	3973	c.3418G>A	c.(3418-3420)Ggc>Agc	p.G1140S	CSMD1_ENST00000539096.1_Missense_Mutation_p.G1139S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1139S|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1140S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1140S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1139S|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1140S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1140	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGCCCTTGCCGGCTTCTGTT	0.378																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(3418-3420)Ggc>Agc		CUB and Sushi multiple domains 1		C	SER/GLY	0,3634		0,0,1817	66.0	60.0	62.0		3415	5.6	1.0	8		62	1,8137		0,1,4068	no	missense	CSMD1	NM_033225.5	56	0,1,5885	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	1139/3565	3205573	1,11771	1817	4069	5886	SO:0001583	missense	64478					integral to membrane		g.chr8:3205573C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3418G>A	8.37:g.3205573C>T	ENSP00000430733:p.Gly1140Ser					CSMD1_ENST00000542608.1_Missense_Mutation_p.G1139S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1140S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1139S|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1139S|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1140S|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1140S	p.G1140S			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	23	3973	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1140			CUB 7.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3418G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.130897|4.130897	0.77549|0.77549	0.0|0.0	1.23E-4|1.23E-4	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95;0.95|.	5.64|5.64	5.64|5.64	0.86602|0.86602	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78413|0.78413	0.4279|0.4279	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.77744|0.77744	-0.2473|-0.2473	10|5	0.72032|.	D|.	0.01|.	.|.	19.7076|19.7076	0.96081|0.96081	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1140;1140;1140|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|Q	1140;1140;1002;1139;1139;1139|619	ENSP00000383047:G1140S;ENSP00000430733:G1140S;ENSP00000441462:G1139S;ENSP00000446243:G1139S;ENSP00000441675:G1139S|.	ENSP00000320445:G1002S|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	3192980|3192980	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.077000|0.077000	0.17291|0.17291	7.635000|7.635000	0.83286|0.83286	2.642000|2.642000	0.89623|0.89623	0.650000|0.650000	0.86243|0.86243	GGC|CGG		0.378	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		11	12	0	0	0	1	0	11	12				
ZNF395	55893	broad.mit.edu	37	8	28218558	28218558	+	Silent	SNP	G	G	A	rs370573792|rs576883875	byFrequency	TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr8:28218558G>A	ENST00000344423.5	-	2	215	c.84C>T	c.(82-84)ccC>ccT	p.P28P	ZNF395_ENST00000523095.1_Silent_p.P28P|ZNF395_ENST00000523202.1_Silent_p.P28P	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGCAGCCGAGGGCCCCTCCG	0.682																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(82-84)ccC>ccT		zinc finger protein 395		G		1,4381		0,1,2190	19.0	22.0	21.0		84	-6.0	0.0	8		21	0,8556		0,0,4278	no	coding-synonymous	ZNF395	NM_018660.2		0,1,6468	AA,AG,GG		0.0,0.0228,0.0077		28/514	28218558	1,12937	2191	4278	6469	SO:0001819	synonymous_variant	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28218558G>A	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.84C>T	8.37:g.28218558G>A						ZNF395_ENST00000523202.1_Silent_p.P28P|ZNF395_ENST00000523095.1_Silent_p.P28P	p.P28P	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	2	215	-		Ovarian(32;2.06e-05)	28					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	ENST00000344423.5	37	c.84C>T	CCDS6067.1																																																																																				0.682	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			3	35	0	0	0	1	0	3	35				
KRTAP5-10	387273	broad.mit.edu	37	11	71276861	71276861	+	Silent	SNP	T	T	C	rs12792973		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr11:71276861T>C	ENST00000398531.1	+	1	253	c.228T>C	c.(226-228)tcT>tcC	p.S76S	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	76	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACTGTGGCTCTTGTGGGGGCT	0.677																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(226-228)tcT>tcC		keratin associated protein 5-10																																				SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276861T>C	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.228T>C	11.37:g.71276861T>C						KRTAP5-10_ENST00000376536.4_Intron	p.S76S	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	253	+			76			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.228T>C	CCDS41684.1																																																																																				0.677	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			5	178	0	0	0	1	0	5	178				
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469). {ECO:0000305}.	transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393																																						ENST00000300619.7																			1	Substitution - Missense(1)	p.R333H(1)	large_intestine(1)								c.(997-999)cGt>cAt		zinc finger protein 91							72.0	76.0	75.0					19																	23544783		2120	4254	6374	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544783C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.998G>A	19.37:g.23544783C>T	ENSP00000300619:p.Arg333His					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H	p.R333H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1203	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	333	R -> H (in Ref. 1; AAA59469).				A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.998G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075438	0.08485	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17854	2.25;2.25	1.97	-3.94	0.04130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07279	0.0184	N	0.20845	0.615	0.09310	N	1	P;D	0.61080	0.566;0.989	B;B	0.41988	0.043;0.372	T	0.25257	-1.0137	9	0.14252	T	0.57	.	3.5074	0.07696	0.1773:0.4543:0.0:0.3684	rs410211	301;333	Q05481-2;Q05481	.;ZNF91_HUMAN	H	333;301	ENSP00000300619:R333H;ENSP00000380272:R301H	ENSP00000300619:R333H	R	-	2	0	ZNF91	23336623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.928000	0.03761	0.162000	0.16502	CGT		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		4	117	0	0	0	1	0	4	117				
PLXNA1	5361	broad.mit.edu	37	3	126730864	126730864	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr3:126730864A>C	ENST00000393409.2	+	9	2176	c.2176A>C	c.(2176-2178)Acc>Ccc	p.T726P	PLXNA1_ENST00000251772.4_Missense_Mutation_p.T703P	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	726					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.T703P(2)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AAAACCCATCACCCTGGCCGC	0.652																																						ENST00000251772.4																			2	Substitution - Missense(2)	p.T703P(2)	lung(1)|central_nervous_system(1)	breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2107-2109)Acc>Ccc		plexin A1							85.0	78.0	80.0					3																	126730864		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126730864A>C	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2176A>C	3.37:g.126730864A>C	ENSP00000377061:p.Thr726Pro					PLXNA1_ENST00000393409.2_Missense_Mutation_p.T726P	p.T703P			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	9	2176	+			726						Missense_Mutation	SNP	ENST00000393409.2	37	c.2107A>C	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	A	14.87	2.663159	0.47572	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11063	2.81;2.81	3.87	3.87	0.44632	.	0.092739	0.45606	D	0.000357	T	0.35393	0.0930	M	0.86178	2.8	0.50632	D	0.999887	D	0.89917	1.0	D	0.83275	0.996	T	0.30621	-0.9972	10	0.59425	D	0.04	.	12.8542	0.57876	1.0:0.0:0.0:0.0	.	726	Q9UIW2	PLXA1_HUMAN	P	726;703	ENSP00000377061:T726P;ENSP00000251772:T703P	ENSP00000251772:T703P	T	+	1	0	PLXNA1	128213554	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	4.282000	0.58971	1.633000	0.50488	0.402000	0.26972	ACC		0.652	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		7	44	0	0	0	1	0	7	44				
SPTA1	6708	broad.mit.edu	37	1	158608028	158608028	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr1:158608028C>A	ENST00000368147.4	-	36	5164	c.4984G>T	c.(4984-4986)Gca>Tca	p.A1662S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1662					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)					TCCTTGAGTGCATCCTAGAAA	0.428																																						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.(4984-4986)Gca>Tca		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							64.0	60.0	61.0					1																	158608028		1882	4110	5992	SO:0001583	missense	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.chr1:158608028C>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.4984G>T	1.37:g.158608028C>A	ENSP00000357129:p.Ala1662Ser					SPTA1_ENST00000368147.3_Missense_Mutation_p.A1662S	p.A1662S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			36	5164	-	all_hematologic(112;0.0378)		1662					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4984G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312800	0.40895	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49139	0.79;0.79	5.24	0.84	0.18912	.	0.277026	0.19389	N	0.115459	T	0.17534	0.0421	L	0.46157	1.445	0.09310	N	1	B	0.29115	0.233	B	0.33121	0.158	T	0.16453	-1.0402	10	0.41790	T	0.15	.	3.2872	0.06936	0.2676:0.282:0.3647:0.0857	.	1662	P02549	SPTA1_HUMAN	S	1662	ENSP00000357130:A1662S;ENSP00000357129:A1662S	ENSP00000357129:A1662S	A	-	1	0	SPTA1	156874652	0.984000	0.35163	0.142000	0.22268	0.987000	0.75469	2.964000	0.49192	0.340000	0.23745	0.591000	0.81541	GCA		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		18	38	1	0	2.35188e-11	1	2.7522e-11	18	38				
TRPM1	4308	broad.mit.edu	37	15	31355425	31355425	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr15:31355425C>A	ENST00000256552.6	-	8	1008	c.861G>T	c.(859-861)ttG>ttT	p.L287F	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.L265F|TRPM1_ENST00000542188.1_Missense_Mutation_p.L304F	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCAGGTATTCCAAGACGATGG	0.587																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(910-912)ttG>ttT		transient receptor potential cation channel, subfamily M, member 1							82.0	92.0	89.0					15																	31355425		2053	4201	6254	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31355425C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.861G>T	15.37:g.31355425C>A	ENSP00000256552:p.Leu287Phe					TRPM1_ENST00000397795.2_Missense_Mutation_p.L265F|TRPM1_ENST00000256552.6_Missense_Mutation_p.L287F	p.L304F	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	7	1225	-		all_lung(180;1.92e-11)	265						Missense_Mutation	SNP	ENST00000256552.6	37	c.912G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995326	0.93167	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.33654	1.4;1.4;1.4	5.67	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.59918	0.2229	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.59177	-0.7503	10	0.41790	T	0.15	-21.1952	16.117	0.81314	0.0:0.8664:0.1336:0.0	.	265;265	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	F	265;304;287;265	ENSP00000380897:L265F;ENSP00000437849:L304F;ENSP00000256552:L287F	ENSP00000256552:L287F	L	-	3	2	TRPM1	29142717	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.688000	0.37690	2.673000	0.90976	0.655000	0.94253	TTG		0.587	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		3	31	1	0	0.00909568	1	0.00926412	3	31				
PPP2CB	5516	broad.mit.edu	37	8	30655146	30655146	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr8:30655146A>C	ENST00000221138.4	-	3	887	c.437T>G	c.(436-438)tTt>tGt	p.F146C	PPP2CB_ENST00000518564.1_Intron|PPP2CB_ENST00000520500.1_5'Flank	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	146					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	GAGATCTGTAAAATATTTCCA	0.378																																						ENST00000221138.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9						c.(436-438)tTt>tGt		protein phosphatase 2, catalytic subunit, beta isozyme	Vitamin E(DB00163)						105.0	101.0	103.0					8																	30655146		2203	4300	6503	SO:0001583	missense	5516				protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding	g.chr8:30655146A>C		CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9300	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, beta isoform"""	176916	"""protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"""			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.437T>G	8.37:g.30655146A>C	ENSP00000221138:p.Phe146Cys					PPP2CB_ENST00000518564.1_Intron	p.F146C	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	3	887	-			146					D3DSV4|P11082|Q6FHK5	Missense_Mutation	SNP	ENST00000221138.4	37	c.437T>G	CCDS6079.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419931	0.62622	.	.	ENSG00000104695	ENST00000221138;ENST00000406655;ENST00000518243;ENST00000520056	T;T;T	0.54479	0.57;0.57;0.57	4.87	4.87	0.63330	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	N	0.11927	0.2	0.80722	D	1	B	0.31193	0.312	P	0.49387	0.609	T	0.48948	-0.8989	10	0.20519	T	0.43	-3.183	14.4643	0.67472	1.0:0.0:0.0:0.0	.	146	P62714	PP2AB_HUMAN	C	146;146;99;81	ENSP00000221138:F146C;ENSP00000428618:F99C;ENSP00000428866:F81C	ENSP00000221138:F146C	F	-	2	0	PPP2CB	30774688	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.339000	0.96797	1.949000	0.56562	0.528000	0.53228	TTT		0.378	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	NM_001009552		7	61	0	0	0	1	0	7	61				
AKAP4	8852	broad.mit.edu	37	X	49958074	49958074	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chrX:49958074C>A	ENST00000376056.2	-	5	1413	c.1263G>T	c.(1261-1263)ttG>ttT	p.L421F	AKAP4_ENST00000358526.2_Missense_Mutation_p.L430F|AKAP4_ENST00000376064.3_Missense_Mutation_p.L421F|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GGGCACTGACCAAGCGCTTCA	0.458																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1261-1263)ttG>ttT		A kinase (PRKA) anchor protein 4							110.0	101.0	104.0					X																	49958074		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958074C>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1263G>T	X.37:g.49958074C>A	ENSP00000365224:p.Leu421Phe					AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.L421F|AKAP4_ENST00000358526.2_Missense_Mutation_p.L430F	p.L421F			Q5JQC9	AKAP4_HUMAN			5	1413	-	Ovarian(276;0.236)		430						Missense_Mutation	SNP	ENST00000376056.2	37	c.1263G>T	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	8.020	0.759438	0.15846	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.15487	2.42;2.42;2.42	4.6	-3.32	0.04973	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.39083	N	0.001474	T	0.28797	0.0714	M	0.77820	2.39	0.46609	D	0.999126	D	0.76494	0.999	D	0.91635	0.999	T	0.30995	-0.9959	9	.	.	.	-7.7426	0.4257	0.00463	0.2963:0.1979:0.2893:0.2166	.	430	Q5JQC9	AKAP4_HUMAN	F	421;430;421	ENSP00000365224:L421F;ENSP00000351327:L430F;ENSP00000365232:L421F	.	L	-	3	2	AKAP4	49844814	0.077000	0.21312	0.677000	0.29947	0.058000	0.15608	-0.957000	0.03861	-0.386000	0.07821	-0.374000	0.07098	TTG		0.458	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		53	9	1	0	9.86064e-34	1	1.20519e-33	53	9				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			0							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	34	0	0	0	1	0	3	34				
GPR125	166647	broad.mit.edu	37	4	22414907	22414907	+	Silent	SNP	G	G	A			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr4:22414907G>A	ENST00000334304.5	-	14	2399	c.2130C>T	c.(2128-2130)aaC>aaT	p.N710N	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	710	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTCCTTGTCCGTTCAGCAAAT	0.453																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2128-2130)aaC>aaT		G protein-coupled receptor 125							170.0	166.0	167.0					4																	22414907		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22414907G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2130C>T	4.37:g.22414907G>A						GPR125_ENST00000282943.5_5'UTR	p.N710N	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			14	2399	-		Breast(46;0.198)	710			GPS.		Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2130C>T	CCDS33964.1																																																																																				0.453	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			4	85	0	0	0	1	0	4	85				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	41	0	0	0	1	0	3	41				
VSTM4	196740	broad.mit.edu	37	10	50227748	50227748	+	Missense_Mutation	SNP	C	C	T	rs141399513	byFrequency	TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr10:50227748C>T	ENST00000332853.4	-	8	933	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	RP11-523O18.1_ENST00000422966.1_RNA	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTGGTGGGGGCGCCTTTGGCA	0.493													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16391	0.001		0.0	False		,,,				2504	0.0					ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(910-912)Gcc>Acc		V-set and transmembrane domain containing 4		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	70.0	71.0	70.0		910	-8.5	0.0	10	dbSNP_134	70	4,8596	3.7+/-12.6	0,4,4296	yes	missense	VSTM4	NM_001031746.3	58	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	304/321	50227748	5,13001	2203	4300	6503	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50227748C>T	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.910G>A	10.37:g.50227748C>T	ENSP00000331062:p.Ala304Thr						p.A304T	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			8	933	-			304					B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.910G>A	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	6.318	0.426831	0.11987	2.27E-4	4.65E-4	ENSG00000165633	ENST00000332853	T	0.06528	3.29	5.78	-8.5	0.00927	.	1.574440	0.03188	N	0.172958	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39643	-0.9604	10	0.22706	T	0.39	-0.8756	8.6658	0.34121	0.0:0.265:0.2592:0.4758	.	304	Q8IW00	VSTM4_HUMAN	T	304	ENSP00000331062:A304T	ENSP00000331062:A304T	A	-	1	0	VSTM4	49897754	0.000000	0.05858	0.000000	0.03702	0.332000	0.28634	-2.696000	0.00827	-1.173000	0.02758	-1.054000	0.02325	GCC		0.493	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		22	23	0	0	0	1	0	22	23				
CCDC28A	25901	broad.mit.edu	37	6	139095001	139095001	+	Missense_Mutation	SNP	C	C	T	rs200225836	byFrequency	TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr6:139095001C>T	ENST00000332797.6	+	1	345	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	64										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CGGGTCTTTGCGGGTTGCGGA	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		13588	0.001		0.0	False		,,,				2504	0.001					ENST00000332797.6																			0				autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13						c.(190-192)Cgg>Tgg		coiled-coil domain containing 28A							68.0	85.0	79.0					6																	139095001		2203	4300	6503	SO:0001583	missense	25901							g.chr6:139095001C>T	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.190C>T	6.37:g.139095001C>T	ENSP00000332716:p.Arg64Trp						p.R64W	NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	1	345	+			64					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.190C>T	CCDS5192.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.28	2.487247	0.44249	.	.	ENSG00000024862	ENST00000332797	T	0.25579	1.79	4.93	3.15	0.36227	.	1.391920	0.05417	N	0.543593	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	D	0.53885	0.963	B	0.33799	0.17	T	0.08310	-1.0728	10	0.72032	D	0.01	-2.5804	7.0938	0.25299	0.0:0.8032:0.0:0.1968	.	64	Q8IWP9	CC28A_HUMAN	W	64	ENSP00000332716:R64W	ENSP00000332716:R64W	R	+	1	2	CCDC28A	139136694	0.000000	0.05858	0.006000	0.13384	0.596000	0.36781	0.095000	0.15127	1.450000	0.47717	-0.215000	0.12644	CGG		0.617	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		4	126	0	0	0	1	0	4	126				
CTC1	80169	broad.mit.edu	37	17	8132109	8132109	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr17:8132109A>C	ENST00000315684.8	-	21	3330	c.3323T>G	c.(3322-3324)cTa>cGa	p.L1108R		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1108					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GACGAAATCTAGGAGGGAGGC	0.597																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(3322-3324)cTa>cGa		CTS telomere maintenance complex component 1							46.0	49.0	48.0					17																	8132109		2027	4185	6212	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8132109A>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3323T>G	17.37:g.8132109A>C	ENSP00000313759:p.Leu1108Arg						p.L1108R	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			21	3330	-			1108					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.3323T>G	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.833737	0.32421	.	.	ENSG00000178971	ENST00000315684	D	0.84589	-1.87	5.56	4.42	0.53409	.	0.154450	0.43260	D	0.000595	D	0.88407	0.6428	M	0.63428	1.95	0.32299	N	0.565254	D	0.67145	0.996	D	0.63381	0.914	D	0.89259	0.3596	10	0.62326	D	0.03	-10.6023	8.1672	0.31233	0.8218:0.0:0.0:0.1782	.	1108	Q2NKJ3	CTC1_HUMAN	R	1108	ENSP00000313759:L1108R	ENSP00000313759:L1108R	L	-	2	0	CTC1	8072834	0.989000	0.36119	0.918000	0.36340	0.349000	0.29174	3.050000	0.49877	2.133000	0.65898	0.533000	0.62120	CTA		0.597	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		4	10	0	0	0	1	0	4	10				
EMR2	30817	broad.mit.edu	37	19	14884750	14884750	+	Splice_Site	SNP	C	C	T			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr19:14884750C>T	ENST00000315576.3	-	4	650	c.199G>A	c.(199-201)Gac>Aac	p.D67N	EMR2_ENST00000594076.1_Splice_Site_p.D67N|EMR2_ENST00000353876.1_Splice_Site_p.D67N|EMR2_ENST00000595839.1_Splice_Site_p.D67N|EMR2_ENST00000353005.1_Splice_Site_p.D67N|EMR2_ENST00000594294.1_Splice_Site_p.D67N|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000392965.3_Splice_Site_p.D67N|EMR2_ENST00000346057.1_Splice_Site_p.D67N|EMR2_ENST00000392967.2_Splice_Site_p.D67N|EMR2_ENST00000596991.2_Splice_Site_p.D67N|EMR2_ENST00000601345.1_Splice_Site_p.D67N|EMR2_ENST00000392964.3_5'Flank	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	67	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.D67N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GCCTCTGTACCGTCACAAGTC	0.582																																						ENST00000315576.3																			1	Substitution - Missense(1)	p.D67N(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.e4+1		egf-like module containing, mucin-like, hormone receptor-like 2							130.0	122.0	125.0					19																	14884750		2203	4300	6503	SO:0001630	splice_region_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14884750C>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.199+1G>A	19.37:g.14884750C>T						EMR2_ENST00000392965.3_Splice_Site_p.D67_splice|EMR2_ENST00000601345.1_Splice_Site_p.D67_splice|EMR2_ENST00000594076.1_Splice_Site_p.D67_splice|EMR2_ENST00000392967.2_Splice_Site_p.D67_splice|EMR2_ENST00000353876.1_Splice_Site_p.D67_splice|EMR2_ENST00000346057.1_Splice_Site_p.D67_splice|EMR2_ENST00000594294.1_Splice_Site_p.D67_splice|EMR2_ENST00000353005.1_Splice_Site_p.D67_splice|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000595839.1_Splice_Site_p.D67_splice|EMR2_ENST00000596991.2_Splice_Site_p.D67_splice	p.D67_splice	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			4	650	-			67			EGF-like 2; calcium-binding.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Splice_Site	SNP	ENST00000315576.3	37	c.199_splice	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299094	0.60195	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000360222;ENST00000392965;ENST00000392962	D;D;D;D;D;D;D	0.99051	-5.37;-5.37;-5.37;-5.37;-5.37;-5.37;-5.37	3.87	2.83	0.33086	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99086	0.9686	M	0.83012	2.62	0.24000	N	0.99621	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.991;1.0;1.0	D;D;P;D;P;D;D	0.91635	0.999;0.982;0.908;0.96;0.633;0.985;0.975	D	0.95651	0.8707	8	.	.	.	.	8.0793	0.30735	0.0:0.8795:0.0:0.1205	.	67;67;67;67;67;67;67	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	N	67	ENSP00000319883:D67N;ENSP00000376694:D67N;ENSP00000263380:D67N;ENSP00000319454:D67N;ENSP00000319838:D67N;ENSP00000376692:D67N;ENSP00000376689:D67N	.	D	-	1	0	EMR2	14745750	0.524000	0.26282	0.330000	0.25442	0.038000	0.13279	2.233000	0.43027	0.930000	0.37217	-0.507000	0.04495	GAC		0.582	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		Missense_Mutation	4	121	0	0	0	1	0	4	121				
DHCR24	1718	broad.mit.edu	37	1	55337177	55337177	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr1:55337177C>T	ENST00000371269.3	-	5	820	c.722G>A	c.(721-723)cGt>cAt	p.R241H	DHCR24_ENST00000537443.1_Missense_Mutation_p.R73H|DHCR24_ENST00000535035.1_Missense_Mutation_p.R200H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	241					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TGGCTCGAAACGCAGCTTGAC	0.607																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(721-723)cGt>cAt		24-dehydrocholesterol reductase							80.0	74.0	76.0					1																	55337177		2203	4300	6503	SO:0001583	missense	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55337177C>T	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.722G>A	1.37:g.55337177C>T	ENSP00000360316:p.Arg241His					DHCR24_ENST00000535035.1_Missense_Mutation_p.R200H|DHCR24_ENST00000537443.1_Missense_Mutation_p.R73H	p.R241H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			5	820	-			241					B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	c.722G>A	CCDS600.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304770	0.23736	.	.	ENSG00000116133	ENST00000371269;ENST00000537443;ENST00000535035	D;D;D	0.93426	-3.21;-2.17;-3.22	5.31	3.08	0.35506	.	0.239616	0.42548	D	0.000696	T	0.74839	0.3769	N	0.00841	-1.15	0.33444	D	0.58284	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.70988	-0.4722	10	0.41790	T	0.15	0.0126	2.3237	0.04217	0.227:0.4329:0.0:0.3401	.	200;200;241	B7Z817;B7ZAV4;Q15392	.;.;DHC24_HUMAN	H	241;73;200	ENSP00000360316:R241H;ENSP00000439852:R73H;ENSP00000440191:R200H	ENSP00000360316:R241H	R	-	2	0	DHCR24	55109765	0.136000	0.22515	0.911000	0.35937	0.299000	0.27559	0.503000	0.22610	1.401000	0.46761	-0.119000	0.15052	CGT		0.607	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		16	7	0	0	0	1	0	16	7				
LARP4	113251	broad.mit.edu	37	12	50869343	50869343	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr12:50869343A>C	ENST00000398473.2	+	16	1983	c.1871A>C	c.(1870-1872)cAg>cCg	p.Q624P	LARP4_ENST00000347328.5_Missense_Mutation_p.Q553P|LARP4_ENST00000518444.1_Missense_Mutation_p.Q623P|LARP4_ENST00000429001.3_Missense_Mutation_p.Q630P|LARP4_ENST00000293618.8_Missense_Mutation_p.Q553P	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	624					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GAAGTGTGCCAGAAGCCCCCT	0.398																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(1870-1872)cAg>cCg		La ribonucleoprotein domain family, member 4							191.0	191.0	191.0					12																	50869343		1823	4090	5913	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50869343A>C	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1871A>C	12.37:g.50869343A>C	ENSP00000381490:p.Gln624Pro					LARP4_ENST00000429001.3_Missense_Mutation_p.Q630P|LARP4_ENST00000518444.1_Missense_Mutation_p.Q623P|LARP4_ENST00000347328.5_Missense_Mutation_p.Q553P|LARP4_ENST00000293618.8_Missense_Mutation_p.Q553P	p.Q624P	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			16	1983	+			624					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.1871A>C	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.608476	0.87258	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.75777	2.31	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.988;1.0;0.994;0.994;0.999;0.999	T	0.69774	-0.5054	10	0.87932	D	0	.	15.7951	0.78404	1.0:0.0:0.0:0.0	.	505;34;623;553;553;624;630	Q71RC2-2;Q8WVX5;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;.;LARP4_HUMAN;.	P	553;630;624;623;505;553	ENSP00000293618:Q553P;ENSP00000415464:Q630P;ENSP00000381490:Q624P;ENSP00000429077:Q623P;ENSP00000340901:Q553P	ENSP00000293618:Q553P	Q	+	2	0	LARP4	49155610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.598000	0.90852	2.202000	0.70862	0.523000	0.50628	CAG		0.398	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		13	259	0	0	0	1	0	13	259				
ZNF574	64763	broad.mit.edu	37	19	42584019	42584019	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr19:42584019C>T	ENST00000600245.1	+	2	1916	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	ZNF574_ENST00000222339.7_Missense_Mutation_p.P511S|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.P421S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	421	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TGTCCCTCTGCCCACAACACC	0.577																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1261-1263)Ccc>Tcc		zinc finger protein 574							85.0	74.0	78.0					19																	42584019		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584019C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1261C>T	19.37:g.42584019C>T	ENSP00000469029:p.Pro421Ser					ZNF574_ENST00000359044.4_Missense_Mutation_p.P421S|ZNF574_ENST00000222339.7_Missense_Mutation_p.P511S|CTB-59C6.3_ENST00000594531.1_RNA	p.P421S			Q6ZN55	ZN574_HUMAN			2	1916	+		Prostate(69;0.059)	421			Pro-rich.		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1261C>T	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	c	13.38	2.219696	0.39201	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.06768	3.26;3.28	4.29	4.29	0.51040	.	0.000000	0.64402	D	0.000001	T	0.04227	0.0117	N	0.08118	0	0.29637	N	0.844981	B;B	0.28713	0.141;0.22	B;B	0.22880	0.012;0.042	T	0.17228	-1.0376	10	0.40728	T	0.16	-21.9209	9.7919	0.40710	0.0:0.9025:0.0:0.0975	.	421;510	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	S	511;421;28	ENSP00000222339:P511S;ENSP00000351939:P421S	ENSP00000222339:P511S	P	+	1	0	ZNF574	47275859	0.948000	0.32251	1.000000	0.80357	0.870000	0.49936	2.713000	0.47194	2.389000	0.81357	0.598000	0.82781	CCC		0.577	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		23	36	0	0	0	1	0	23	36				
PPP4R4	57718	broad.mit.edu	37	14	94732161	94732161	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr14:94732161G>A	ENST00000304338.3	+	22	2469	c.2315G>A	c.(2314-2316)cGa>cAa	p.R772Q		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	772					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAACTGATTCGAAGCCAGTCT	0.363																																						ENST00000304338.3																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(2314-2316)cGa>cAa		protein phosphatase 4, regulatory subunit 4							89.0	92.0	91.0					14																	94732161		2202	4299	6501	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94732161G>A	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2315G>A	14.37:g.94732161G>A	ENSP00000305924:p.Arg772Gln						p.R772Q	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			22	2469	+			772					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.2315G>A	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945773	0.92593	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.39	5.39	0.77823	.	0.317552	0.28241	N	0.016061	T	0.77532	0.4144	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.75374	-0.3340	9	0.38643	T	0.18	-3.0727	19.212	0.93760	0.0:0.0:1.0:0.0	.	772	Q6NUP7	PP4R4_HUMAN	Q	772	.	ENSP00000305924:R772Q	R	+	2	0	PPP4R4	93801914	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.937000	0.75898	2.547000	0.85894	0.644000	0.83932	CGA		0.363	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		39	65	0	0	0	1	0	39	65				
CXCL8	3576	broad.mit.edu	37	4	74606394	74606394	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr4:74606394G>T	ENST00000307407.3	+	1	172	c.19G>T	c.(19-21)Gtg>Ttg	p.V7L	IL8_ENST00000401931.1_Missense_Mutation_p.V7L	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN		7					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of neutrophil chemotaxis (GO:0090023)|receptor internalization (GO:0031623)|regulation of cell adhesion (GO:0030155)|regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091)|response to endoplasmic reticulum stress (GO:0034976)|response to molecule of bacterial origin (GO:0002237)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|interleukin-8 receptor binding (GO:0005153)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)		CAAGCTGGCCGTGGCTCTCTT	0.488																																						ENST00000307407.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6						c.(19-21)Gtg>Ttg		interleukin 8	Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744)						230.0	213.0	219.0					4																	74606394		2203	4300	6503	SO:0001583	missense	0				angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication	extracellular space|intracellular	chemokine activity|interleukin-8 receptor binding	g.chr4:74606394G>T																												ENST00000307407.3:c.19G>T	4.37:g.74606394G>T	ENSP00000306512:p.Val7Leu					IL8_ENST00000401931.1_Missense_Mutation_p.V7L	p.V7L	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN	all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)	1	172	+	Breast(15;0.00102)		7					B2R4L8|Q6FGF6|Q6LAE6|Q96RG6|Q9C077|Q9UCE1|Q9UCR8|Q9UCR9|Q9UCS0	Missense_Mutation	SNP	ENST00000307407.3	37	c.19G>T	CCDS34005.1	.	.	.	.	.	.	.	.	.	.	G	6.833	0.522951	0.13066	.	.	ENSG00000169429	ENST00000307407;ENST00000401931	T;T	0.04454	3.73;3.62	5.79	-5.21	0.02815	.	1.177220	0.05939	N	0.636582	T	0.02494	0.0076	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.45789	-0.9237	9	0.27082	T	0.32	-1.2703	1.6977	0.02866	0.4569:0.1029:0.1995:0.2406	.	7;7	C9J4T6;P10145	.;IL8_HUMAN	L	7	ENSP00000306512:V7L;ENSP00000385908:V7L	ENSP00000306512:V7L	V	+	1	0	IL8	74825258	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.814000	0.04486	-1.136000	0.02892	-0.156000	0.13503	GTG		0.488	IL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322211.1			8	117	1	0	1.58986e-06	1	1.71456e-06	8	117				
AKAP1	8165	broad.mit.edu	37	17	55183580	55183580	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr17:55183580A>C	ENST00000337714.3	+	2	988	c.755A>C	c.(754-756)cAg>cCg	p.Q252P	AKAP1_ENST00000314126.3_Missense_Mutation_p.Q252P|AKAP1_ENST00000571629.1_Missense_Mutation_p.Q252P|AKAP1_ENST00000572557.1_Missense_Mutation_p.Q252P|AKAP1_ENST00000539273.1_Missense_Mutation_p.Q252P	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	252					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGCTCATCCCAGGTGGTGGGG	0.567																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(754-756)cAg>cCg		A kinase (PRKA) anchor protein 1							111.0	115.0	113.0					17																	55183580		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183580A>C	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.755A>C	17.37:g.55183580A>C	ENSP00000337736:p.Gln252Pro					AKAP1_ENST00000571629.1_Missense_Mutation_p.Q252P|AKAP1_ENST00000572557.1_Missense_Mutation_p.Q252P|AKAP1_ENST00000539273.1_Missense_Mutation_p.Q252P|AKAP1_ENST00000314126.3_Missense_Mutation_p.Q252P	p.Q252P	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			2	988	+	Breast(9;5.46e-08)		252					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.755A>C	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.525699	0.44969	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.20069	2.34;2.1;2.34	4.68	-4.38	0.03622	.	1.229450	0.05529	N	0.563699	T	0.15089	0.0364	L	0.50333	1.59	0.09310	N	1	P	0.38335	0.627	B	0.34489	0.184	T	0.18555	-1.0333	10	0.56958	D	0.05	1.0988	2.4146	0.04433	0.2674:0.4068:0.0809:0.2449	.	252	Q92667	AKAP1_HUMAN	P	252;252;294;252	ENSP00000337736:Q252P;ENSP00000314075:Q252P;ENSP00000443139:Q252P	ENSP00000314075:Q252P	Q	+	2	0	AKAP1	52538579	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.237000	0.08990	-1.023000	0.03342	0.533000	0.62120	CAG		0.567	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			22	38	0	0	0	1	0	22	38				
HEY2	23493	broad.mit.edu	37	6	126080681	126080681	+	Silent	SNP	C	C	T			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr6:126080681C>T	ENST00000368364.3	+	5	944	c.747C>T	c.(745-747)tgC>tgT	p.C249C	HEY2_ENST00000368365.1_Silent_p.C203C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	249					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCGCCCCCTGCGTGCCACCTC	0.672																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(745-747)tgC>tgT		hes-related family bHLH transcription factor with YRPW motif 2							170.0	151.0	157.0					6																	126080681		2203	4300	6503	SO:0001819	synonymous_variant	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080681C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.747C>T	6.37:g.126080681C>T						HEY2_ENST00000368365.1_Silent_p.C203C	p.C249C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	944	+			249						Silent	SNP	ENST00000368364.3	37	c.747C>T	CCDS5131.1																																																																																				0.672	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			37	157	0	0	0	1	0	37	157				
HPCA	3208	broad.mit.edu	37	1	33359401	33359401	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr1:33359401delA	ENST00000373467.3	+	4	622	c.520delA	c.(520-522)aaafs	p.K174fs	TMEM54_ENST00000475208.1_5'Flank	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	174	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inner ear development (GO:0048839)		actin binding (GO:0003779)|calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCGCGGGGCCAAAAGCGACCC	0.692																																						ENST00000373467.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(520-522)aafs		hippocalcin							30.0	26.0	27.0					1																	33359401		2198	4294	6492	SO:0001589	frameshift_variant	3208						actin binding|calcium ion binding	g.chr1:33359401delA	BC001777	CCDS370.1	1p35-p34.2	2013-01-10			ENSG00000121905	ENSG00000121905		"""EF-hand domain containing"""	5144	protein-coding gene	gene with protein product		142622				8166736, 9931466	Standard	NM_002143		Approved		uc001bwh.3	P84074	OTTHUMG00000004017	ENST00000373467.3:c.520delA	1.37:g.33359401delA	ENSP00000362566:p.Lys174fs						p.K174fs	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN			4	622	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	174			EF-hand 4.		B2R9T3|D3DPQ7|P32076|P41211|P70510	Frame_Shift_Del	DEL	ENST00000373467.3	37	c.520delA	CCDS370.1																																																																																				0.692	HPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011480.1	NM_002143		2	4						2	4	---	---	---	---
NGEF	25791	broad.mit.edu	37	2	233792687	233792687	+	Intron	DEL	A	A	-			TCGA-ZG-A9LZ-01A-11D-A41K-08	TCGA-ZG-A9LZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678b42ec-7932-47a8-98df-39f5d25b7562	4194550d-f14a-484d-85d6-a2a15cd7a2ad	g.chr2:233792687delA	ENST00000264051.3	-	4	662				NGEF_ENST00000409079.1_Frame_Shift_Del_p.F8fs|NGEF_ENST00000373552.4_Frame_Shift_Del_p.F8fs	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor						apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGCGGCGCTGAAGGCAGCGGC	0.781																																						ENST00000373552.4																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(22-24)tcfs		neuronal guanine nucleotide exchange factor							2.0	2.0	2.0					2																	233792687		1071	2669	3740	SO:0001627	intron_variant	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233792687delA	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.384-791T>-	2.37:g.233792687delA						NGEF_ENST00000409079.1_Frame_Shift_Del_p.F8fs|NGEF_ENST00000264051.3_Intron	p.F8fs	NM_001114090.1	NP_001107562.1	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	1	177	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	0			Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Frame_Shift_Del	DEL	ENST00000264051.3	37	c.23delT	CCDS2500.1																																																																																				0.781	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		2	4						2	4	---	---	---	---
