#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ATP1A1	476	broad.mit.edu	37	1	116932301	116932301	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr1:116932301T>G	ENST00000295598.5	+	8	1247	c.995T>G	c.(994-996)gTg>gGg	p.V332G	ATP1A1_ENST00000369496.4_Missense_Mutation_p.V301G|ATP1A1_ENST00000537345.1_Missense_Mutation_p.V332G|ATP1A1_ENST00000491156.1_3'UTR	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	332					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GTAGCCAATGTGCCGGAAGGT	0.507																																						uc001ege.3																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(994-996)gTg>gGg		Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						122.0	92.0	102.0					1																	116932301		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116932301T>G	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.995T>G	1.37:g.116932301T>G	ENSP00000295598:p.Val332Gly		Somatic				ATP1A1_uc010owv.1_Missense_Mutation_p.V301G|ATP1A1_uc010oww.2_Missense_Mutation_p.V332G|ATP1A1_uc010owx.2_Missense_Mutation_p.V301G	p.V332G	NM_000701	NP_001153706	WXS	Illumina GAIIx	Phase_I	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	7	1334	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	332					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.995T>G	CCDS887.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.513868	0.85389	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.92545	-3.06;-3.06;-3.06	4.87	4.87	0.63330	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97417	0.9155	H	0.98256	4.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98837	1.0753	10	0.87932	D	0	.	14.6423	0.68734	0.0:0.0:0.0:1.0	.	332;332	F5H3A1;P05023	.;AT1A1_HUMAN	G	332;332;331;301	ENSP00000295598:V332G;ENSP00000445306:V332G;ENSP00000358508:V301G	ENSP00000295598:V332G	V	+	2	0	ATP1A1	116733824	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	7.868000	0.87116	2.068000	0.61886	0.528000	0.53228	GTG		0.507	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		12	26	0	0	0	1	0	12	26				
PSG1	5669	broad.mit.edu	37	19	43382240	43382240	+	Silent	SNP	G	G	A	rs1058959		TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr19:43382240G>A	ENST00000436291.2	-	2	371	c.255C>T	c.(253-255)gaC>gaT	p.D85D	PSG1_ENST00000312439.6_Silent_p.D85D|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Silent_p.D85D|PSG1_ENST00000244296.2_Silent_p.D85D|PSG1_ENST00000595124.1_Silent_p.D85D|PSG1_ENST00000595356.1_Silent_p.D85D	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	85	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D85E(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TTATTTCACCGTCTACTACAT	0.448																																						uc002ovd.1																			2	Substitution - Missense(2)	p.D85E(2)	lung(2)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(253-255)gaC>gaT		Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.							257.0	250.0	253.0					19																	43382240		2202	4299	6501	SO:0001819	synonymous_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43382240G>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.255C>T	19.37:g.43382240G>A			Somatic				PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.D85D|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.D85D|PSG3_uc002ova.2_Silent_p.D85D|PSG3_uc002ouz.2_Silent_p.D85D|PSG3_uc002ovb.3_Silent_p.D85D	p.D85D	NM_006905	NP_008836	WXS	Illumina GAIIx	Phase_I	Q16557	PSG3_HUMAN			1	393	-		Prostate(69;0.00682)	85			Ig-like V-type.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	c.255C>T	CCDS54275.1																																																																																				0.448	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			18	438	0	0	0	1	0	18	438				
HADHA	3030	broad.mit.edu	37	2	26457150	26457150	+	Missense_Mutation	SNP	G	G	T	rs75929560		TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr2:26457150G>T	ENST00000380649.3	-	5	517	c.388C>A	c.(388-390)Ctt>Att	p.L130I	HADHA_ENST00000461025.1_5'UTR|HADHA_ENST00000457468.2_Missense_Mutation_p.L43I	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	130					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACTTTTCAAGTTTCTCAACT	0.423																																						uc002rgy.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(388-390)Ctt>Att		Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						131.0	121.0	124.0					2																	26457150		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26457150G>T	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.388C>A	2.37:g.26457150G>T	ENSP00000370023:p.Leu130Ile		Somatic				HADHA_uc010yks.2_Missense_Mutation_p.L43I|HADHA_uc010ykt.1_Missense_Mutation_p.L43I	p.L130I	NM_000182	NP_000173	WXS	Illumina GAIIx	Phase_I	P40939	ECHA_HUMAN			4	518	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		130					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.388C>A	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	G	4.807	0.150098	0.09185	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.69306	-0.39;-0.39	5.47	3.65	0.41850	Crotonase, core (1);	0.165507	0.53938	D	0.000052	T	0.42017	0.1184	N	0.05306	-0.075	0.43814	D	0.996378	B;B;B	0.15141	0.012;0.0;0.0	B;B;B	0.23574	0.047;0.008;0.008	T	0.35051	-0.9804	10	0.05351	T	0.99	-23.7369	14.0503	0.64732	0.0:0.288:0.712:0.0	.	43;130;130	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	I	130;43	ENSP00000370023:L130I;ENSP00000405344:L43I	ENSP00000370023:L130I	L	-	1	0	HADHA	26310654	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.333000	0.52090	0.677000	0.31305	0.655000	0.94253	CTT		0.423	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		5	79	0	0	0	1	0	5	79				
TWISTNB	221830	broad.mit.edu	37	7	19738204	19738204	+	Missense_Mutation	SNP	G	G	C	rs555342790	byFrequency	TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr7:19738204G>C	ENST00000222567.5	-	4	822	c.752C>G	c.(751-753)gCa>gGa	p.A251G		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	251	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						AGTGTCATCTGCATCATCTGC	0.433													G|||	12	0.00239617	0.0	0.0	5008	,	,		17396	0.001		0.0	False		,,,				2504	0.0112					uc003sup.1																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(751-753)gCa>gGa		Homo sapiens TWIST neighbor (TWISTNB), mRNA.							268.0	279.0	275.0					7																	19738204		2203	4300	6503	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738204G>C	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.752C>G	7.37:g.19738204G>C	ENSP00000222567:p.Ala251Gly		Somatic					p.A251G	NM_001002926	NP_001002926	WXS	Illumina GAIIx	Phase_I	Q3B726	RPA43_HUMAN			3	773	-			251			Lys-rich.		A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.752C>G	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108219	0.37242	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.99	3.12	0.35913	.	0.956275	0.08858	N	0.883396	T	0.40067	0.1102	L	0.56769	1.78	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34700	-0.9818	9	0.18710	T	0.47	-0.0331	4.85	0.13531	0.0808:0.1489:0.6162:0.1541	.	251	Q3B726	RPA43_HUMAN	G	251	.	ENSP00000222567:A251G	A	-	2	0	TWISTNB	19704729	0.000000	0.05858	0.027000	0.17364	0.571000	0.35966	0.184000	0.16939	0.593000	0.29745	0.484000	0.47621	GCA		0.433	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			10	224	0	0	0	1	0	10	224				
DNMT3A	1788	broad.mit.edu	37	2	25470535	25470535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr2:25470535C>T	ENST00000264709.3	-	8	1276	c.939G>A	c.(937-939)tgG>tgA	p.W313*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W313*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W90*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W124*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	313	Interaction with DNMT1 and DNMT3B.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGTCATCCACCAAGACACAA	0.637			"""Mis, F, N, S"""		AML																																	uc002rgc.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0		p.S312F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(937-939)tgG>tgA		Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.							91.0	95.0	94.0					2																	25470535		2203	4300	6503	SO:0001587	stop_gained	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25470535C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.939G>A	2.37:g.25470535C>T	ENSP00000264709:p.Trp313*		Somatic				DNMT3A_uc002rgd.3_Nonsense_Mutation_p.W313*|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Nonsense_Mutation_p.W124*	p.W313*	NM_022552	NP_783328	WXS	Illumina GAIIx	Phase_I	Q9Y6K1	DNM3A_HUMAN			7	1196	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		313			Interaction with DNMT1 and DNMT3B.|PWWP.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	c.939G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	40	8.118433	0.98662	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0978	16.948	0.86235	0.0:1.0:0.0:0.0	.	.	.	.	X	124;313;313;90	.	ENSP00000264709:W313X	W	-	3	0	DNMT3A	25324039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.848000	0.55903	2.584000	0.87258	0.462000	0.41574	TGG		0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		7	68	0	0	0	1	0	7	68				
GRXCR1	389207	broad.mit.edu	37	4	42964970	42964970	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr4:42964970T>C	ENST00000399770.2	+	2	446	c.446T>C	c.(445-447)gTc>gCc	p.V149A		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	149	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CTTCGTGTGGTCCGGACAACC	0.388																																						uc003gwt.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(445-447)gTc>gCc		Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.							171.0	165.0	167.0					4																	42964970		1867	4102	5969	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42964970T>C		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.446T>C	4.37:g.42964970T>C	ENSP00000382670:p.Val149Ala		Somatic					p.V149A	NM_001080476	NP_001073945	WXS	Illumina GAIIx	Phase_I	A8MXD5	GRCR1_HUMAN			1	447	+			149			Glutaredoxin.			Missense_Mutation	SNP	ENST00000399770.2	37	c.446T>C	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.635716	0.87760	.	.	ENSG00000215203	ENST00000399770	T	0.22743	1.94	5.78	5.78	0.91487	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000009	T	0.52500	0.1738	M	0.86502	2.82	0.58432	D	0.999999	D	0.69078	0.997	D	0.79108	0.992	T	0.60454	-0.7260	10	0.72032	D	0.01	-9.2496	15.2809	0.73784	0.0:0.0:0.0:1.0	.	149	A8MXD5	GRCR1_HUMAN	A	149	ENSP00000382670:V149A	ENSP00000382670:V149A	V	+	2	0	GRXCR1	42659727	1.000000	0.71417	0.960000	0.40013	0.958000	0.62258	7.698000	0.84413	2.199000	0.70637	0.533000	0.62120	GTC		0.388	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		4	80	0	0	0	1	0	4	80				
CNTNAP1	8506	broad.mit.edu	37	17	40836233	40836233	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr17:40836233C>T	ENST00000264638.4	+	3	566	c.349C>T	c.(349-351)Cga>Tga	p.R117*	CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000332438.4_5'Flank|CCR10_ENST00000591765.1_5'Flank|CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	117	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTTCTACCAGCGAGGGCACAA	0.612																																						uc002iay.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(349-351)Cga>Tga		Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.							102.0	104.0	103.0					17																	40836233		2203	4300	6503	SO:0001587	stop_gained	8506				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding	g.chr17:40836233C>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.349C>T	17.37:g.40836233C>T	ENSP00000264638:p.Arg117*		Somatic				CCR10_uc002iax.4_5'Flank|CNTNAP1_uc010wgs.2_Non-coding_Transcript	p.R117*	NM_003632	NP_003623	WXS	Illumina GAIIx	Phase_I	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	2	565	+		Breast(137;0.000143)	117			F5/8 type C.			Nonsense_Mutation	SNP	ENST00000264638.4	37	c.349C>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	37	6.588271	0.97684	.	.	ENSG00000108797	ENST00000264638	.	.	.	5.42	2.23	0.28157	.	1.154550	0.06474	N	0.731757	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	14.4318	0.67257	0.3828:0.6172:0.0:0.0	.	.	.	.	X	117	.	ENSP00000264638:R117X	R	+	1	2	CNTNAP1	38089759	0.944000	0.32072	0.407000	0.26434	0.972000	0.66771	1.680000	0.37607	0.231000	0.21079	0.462000	0.41574	CGA		0.612	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		17	134	0	0	0	1	0	17	134				
CTNND2	1501	broad.mit.edu	37	5	11098687	11098687	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr5:11098687C>T	ENST00000304623.8	-	15	2826	c.2637G>A	c.(2635-2637)aaG>aaA	p.K879K	CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Splice_Site_p.K788K|CTNND2_ENST00000503622.1_Splice_Site_p.K542K|CTNND2_ENST00000458100.2_Splice_Site_p.K446K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	879					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGGCCATACCTTCCAGCTCC	0.463																																						uc003jfa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.e15+1		Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.							59.0	58.0	58.0					5																	11098687		2203	4300	6503	SO:0001630	splice_region_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11098687C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2637+1G>A	5.37:g.11098687C>T			Somatic				CTNND2_uc010itt.2_Splice_Site_p.K788_splice|CTNND2_uc011cmy.1_Splice_Site_p.K542_splice|CTNND2_uc011cmz.1_Splice_Site_p.K446_splice|CTNND2_uc010itu.1_Splice_Site|CTNND2_uc011cmx.1_Splice_Site_p.K446_splice	p.K879_splice	NM_001332	NP_001323	WXS	Illumina GAIIx	Phase_I	Q9UQB3	CTND2_HUMAN			15	2782	-			879					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Splice_Site	SNP	ENST00000304623.8	37	c.2637_splice	CCDS3881.1																																																																																				0.463	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	Silent	4	62	0	0	0	1	0	4	62				
KTN1	3895	broad.mit.edu	37	14	56139949	56139949	+	Silent	SNP	A	A	G			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr14:56139949A>G	ENST00000395314.3	+	40	3815	c.3747A>G	c.(3745-3747)gtA>gtG	p.V1249V	KTN1_ENST00000438792.2_Intron|KTN1_ENST00000416613.1_Silent_p.V1249V|KTN1_ENST00000395309.3_Silent_p.V1249V|KTN1_ENST00000555573.1_Intron|KTN1_ENST00000554507.1_Intron|KTN1_ENST00000395308.1_Intron|KTN1_ENST00000413890.2_Intron|KTN1_ENST00000395311.1_Intron	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1249					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CTGAAGCAGTAAGACAGAATG	0.373			T	RET	papillary thryoid																																	uc001xcb.3				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3745-3747)gtA>gtG		Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.							87.0	85.0	85.0					14																	56139949		2203	4300	6503	SO:0001819	synonymous_variant	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56139949A>G		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3747A>G	14.37:g.56139949A>G			Somatic				KTN1_uc001xcc.3_Silent_p.V1249V|KTN1_uc001xcd.3_Intron|KTN1_uc001xce.3_Intron|KTN1_uc010trb.2_Intron|KTN1_uc001xcf.1_Intron|KTN1_uc010aoq.3_Intron|KTN1_uc010trc.2_Intron|KTN1_uc001xcg.3_Intron	p.V1249V	NM_182926	NP_891556	WXS	Illumina GAIIx	Phase_I	Q86UP2	KTN1_HUMAN			40	4049	+			1249					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	c.3747A>G	CCDS41957.1																																																																																				0.373	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			3	17	0	0	0	1	0	3	17				
PTCHD1	139411	broad.mit.edu	37	X	23411839	23411839	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chrX:23411839A>T	ENST00000379361.4	+	3	3064	c.2204A>T	c.(2203-2205)gAg>gTg	p.E735V		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	735					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GTGTCCGTGGAGTTTGGAGTG	0.413																																						uc004dal.4																			0		p.A735D(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(2203-2205)gAg>gTg		Homo sapiens patched domain containing 1 (PTCHD1), mRNA.							156.0	133.0	141.0					X																	23411839		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23411839A>T	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2204A>T	X.37:g.23411839A>T	ENSP00000368666:p.Glu735Val		Somatic					p.E735V	NM_173495	NP_775766	WXS	Illumina GAIIx	Phase_I	Q96NR3	PTHD1_HUMAN			2	2212	+			735					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.2204A>T	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	A	16.34	3.094441	0.56075	.	.	ENSG00000165186	ENST00000379361	D	0.85773	-2.03	5.18	5.18	0.71444	.	0.056235	0.64402	D	0.000001	T	0.80502	0.4635	L	0.46157	1.445	0.53688	D	0.999978	B	0.15141	0.012	B	0.24006	0.05	T	0.74328	-0.3701	10	0.14252	T	0.57	.	14.1343	0.65276	1.0:0.0:0.0:0.0	.	735	Q96NR3	PTHD1_HUMAN	V	735	ENSP00000368666:E735V	ENSP00000368666:E735V	E	+	2	0	PTCHD1	23321760	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.957000	0.93082	1.715000	0.51383	0.425000	0.28330	GAG		0.413	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		4	78	0	0	0	1	0	4	78				
RASGRF2	5924	broad.mit.edu	37	5	80508237	80508237	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr5:80508237G>A	ENST00000265080.4	+	23	3276	c.3209G>A	c.(3208-3210)cGt>cAt	p.R1070H	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1070	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GTCAGCTCCCGTGCCAACGCC	0.542																																						uc003kha.2																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(3208-3210)cGt>cAt		Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.							63.0	57.0	59.0					5																	80508237		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	g.chr5:80508237G>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3209G>A	5.37:g.80508237G>A	ENSP00000265080:p.Arg1070His		Somatic				RNU5E-1_uc011cto.1_Intron|RASGRF2_uc011ctn.2_Non-coding_Transcript	p.R1070H	NM_006909	NP_008840	WXS	Illumina GAIIx	Phase_I	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	22	3259	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	1070			Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.3209G>A	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580562	0.86645	.	.	ENSG00000113319	ENST00000265080	T	0.70986	-0.53	5.84	4.06	0.47325	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.096157	0.64402	D	0.000003	D	0.89399	0.6704	H	0.98295	4.195	0.53005	D	0.999965	D	0.89917	1.0	D	0.91635	0.999	D	0.91147	0.4950	10	0.87932	D	0	.	11.4321	0.50047	0.0683:0.1267:0.805:0.0	.	1070	O14827	RGRF2_HUMAN	H	1070	ENSP00000265080:R1070H	ENSP00000265080:R1070H	R	+	2	0	RASGRF2	80543993	1.000000	0.71417	0.057000	0.19452	0.986000	0.74619	9.864000	0.99589	0.806000	0.34183	0.655000	0.94253	CGT		0.542	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		11	34	0	0	0	1	0	11	34				
COL4A6	1288	broad.mit.edu	37	X	107417689	107417689	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chrX:107417689G>C	ENST00000372216.4	-	31	3222	c.3122C>G	c.(3121-3123)cCa>cGa	p.P1041R	COL4A6_ENST00000394872.2_Missense_Mutation_p.P1041R|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1040R|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1040R|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1040R	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1041	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGGCATTCCTGGGAAACCTGT	0.547									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.4																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(3121-3123)cCa>cGa		Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.							68.0	68.0	68.0					X																	107417689		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107417689G>C	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3122C>G	X.37:g.107417689G>C	ENSP00000361290:p.Pro1041Arg		Somatic				COL4A6_uc004env.4_Missense_Mutation_p.P1040R|COL4A6_uc011msn.2_Missense_Mutation_p.P1040R|COL4A6_uc010npk.3_Missense_Mutation_p.P1040R	p.P1041R	NM_001847	NP_001838	WXS	Illumina GAIIx	Phase_I	Q14031	CO4A6_HUMAN			30	3225	-			1041			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.3122C>G	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524268	0.27299	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23;-4.23	4.74	2.9	0.33743	.	0.198657	0.25217	N	0.032276	D	0.97629	0.9223	M	0.74881	2.28	0.39761	D	0.972029	D;D;D;P	0.67145	0.995;0.995;0.996;0.941	D;D;D;P	0.66716	0.91;0.91;0.946;0.854	D	0.97072	0.9778	10	0.72032	D	0.01	.	9.0755	0.36519	0.0809:0.0:0.7715:0.1476	.	1040;1040;1041;1040	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	R	1041;1040;1041;1040;1040;1040	ENSP00000361290:P1041R;ENSP00000334733:P1040R;ENSP00000378340:P1041R;ENSP00000443707:P1040R;ENSP00000445236:P1040R	ENSP00000334733:P1040R	P	-	2	0	COL4A6	107304345	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	4.732000	0.62029	0.478000	0.27488	0.538000	0.68166	CCA		0.547	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			11	85	0	0	0	1	0	11	85				
C1QL2	165257	broad.mit.edu	37	2	119915192	119915192	+	Silent	SNP	G	G	A			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr2:119915192G>A	ENST00000272520.3	-	1	1273	c.654C>T	c.(652-654)agC>agT	p.S218S		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	218	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CCGCCCACATGCTGGTGCCGT	0.642										HNSCC(49;0.14)																												uc002tlo.2																			0				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(652-654)agC>agT		Homo sapiens complement component 1, q subcomponent-like 2 (C1QL2), mRNA.							48.0	54.0	52.0					2																	119915192		2201	4300	6501	SO:0001819	synonymous_variant	165257					collagen		g.chr2:119915192G>A	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.654C>T	2.37:g.119915192G>A		HNSCC(49;0.14)	Somatic					p.S218S	NM_182528	NP_872334	WXS	Illumina GAIIx	Phase_I	Q7Z5L3	C1QL2_HUMAN			0	1280	-			218			C1q.			Silent	SNP	ENST00000272520.3	37	c.654C>T	CCDS42737.1																																																																																				0.642	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		10	28	0	0	0	1	0	10	28				
