#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
AMHR2	269	broad.mit.edu	37	12	53819001	53819001	+	Silent	SNP	G	G	C			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr12:53819001G>C	ENST00000257863.4	+	4	557	c.477G>C	c.(475-477)ctG>ctC	p.L159L	AMHR2_ENST00000550311.1_Silent_p.L159L|AMHR2_ENST00000379791.3_Silent_p.L159L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	159					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TCCTCCTCCTGCTGCTGCTGG	0.587																																						uc001scx.2																			0		p.L158L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(475-477)ctG>ctC		Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)						183.0	141.0	155.0					12																	53819001		2203	4300	6503	SO:0001819	synonymous_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819001G>C	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.477G>C	12.37:g.53819001G>C			Somatic				AMHR2_uc009zmy.2_Silent_p.L159L|AMHR2_uc021qyg.1_Silent_p.L159L	p.L159L	NM_020547	NP_065434	WXS	Illumina GAIIx	Phase_I	Q16671	AMHR2_HUMAN			3	557	+			159					A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	c.477G>C	CCDS8858.1																																																																																				0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		3	169	0	0	0	1	0	3	169				
TERT	7015	broad.mit.edu	37	5	1280418	1280418	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr5:1280418G>A	ENST00000310581.5	-	4	1862	c.1805C>T	c.(1804-1806)tCg>tTg	p.S602L	TERT_ENST00000508104.2_Missense_Mutation_p.S602L|TERT_ENST00000334602.6_Missense_Mutation_p.S602L|TERT_ENST00000296820.5_Missense_Mutation_p.S602L	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	602					DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CTCTGCTTCCGACAGCTCCCG	0.632									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1804-1806)tCg>tTg		Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.							56.0	53.0	54.0					5																	1280418		2203	4300	6503	SO:0001583	missense	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1280418G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1805C>T	5.37:g.1280418G>A	ENSP00000309572:p.Ser602Leu		Somatic				TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Missense_Mutation_p.S602L|TERT_uc003jca.1_Missense_Mutation_p.S602L|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.S54L	p.S602L	NM_198253	NP_937983	WXS	Illumina GAIIx	Phase_I	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		3	1863	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		602					O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.1805C>T	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614482	0.46631	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.97114	-4.25;-4.19;-4.14;-4.19	4.48	4.48	0.54585	.	0.123713	0.56097	D	0.000039	D	0.98124	0.9381	M	0.80183	2.485	0.33997	D	0.649852	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.69479	0.928;0.964;0.849	D	0.99971	1.2000	10	0.66056	D	0.02	-2.4207	14.0835	0.64939	0.0:0.0:1.0:0.0	.	602;602;602	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	L	602	ENSP00000309572:S602L;ENSP00000296820:S602L;ENSP00000334346:S602L;ENSP00000426042:S602L	ENSP00000296820:S602L	S	-	2	0	TERT	1333418	0.772000	0.28567	0.185000	0.23176	0.093000	0.18481	5.177000	0.65032	2.038000	0.60285	0.407000	0.27541	TCG		0.632	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			5	82	0	0	0	1	0	5	82				
FITM2	128486	broad.mit.edu	37	20	42935521	42935521	+	Missense_Mutation	SNP	G	G	A	rs138125328		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr20:42935521G>A	ENST00000396825.3	-	2	553	c.533C>T	c.(532-534)aCg>aTg	p.T178M		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	178					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						GCTTCGGTCCGTCTTCACCTC	0.542																																						uc002xlr.1																			0				endometrium(2)|lung(2)|skin(2)	6						c.(532-534)aCg>aTg		Homo sapiens fat storage-inducing transmembrane protein 2 (FITM2), mRNA.		G	MET/THR	3,4403	6.2+/-15.9	0,3,2200	100.0	78.0	86.0		533	2.1	1.0	20	dbSNP_134	86	0,8600		0,0,4300	no	missense	FITM2	NM_001080472.1	81	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	178/263	42935521	3,13003	2203	4300	6503	SO:0001583	missense	128486				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane		g.chr20:42935521G>A	BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"""fat inducing transcript 2"""	612029	"""chromosome 20 open reading frame 142"""	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.533C>T	20.37:g.42935521G>A	ENSP00000380037:p.Thr178Met		Somatic					p.T178M	NM_001080472	NP_001073941	WXS	Illumina GAIIx	Phase_I	Q8N6M3	FITM2_HUMAN			1	634	-			178					A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Missense_Mutation	SNP	ENST00000396825.3	37	c.533C>T	CCDS33473.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324080	0.24080	6.81E-4	0.0	ENSG00000197296	ENST00000396825	.	.	.	5.57	2.07	0.26955	.	0.448802	0.25872	N	0.027753	T	0.27765	0.0683	N	0.17474	0.49	0.31861	N	0.620962	B	0.16166	0.016	B	0.11329	0.006	T	0.19451	-1.0305	9	0.34782	T	0.22	.	8.2401	0.31654	0.1967:0.0:0.6726:0.1308	.	178	Q8N6M3	FITM2_HUMAN	M	178	.	ENSP00000380037:T178M	T	-	2	0	FITM2	42368935	0.880000	0.30214	0.993000	0.49108	0.797000	0.45037	2.159000	0.42339	0.696000	0.31696	0.563000	0.77884	ACG		0.542	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	XM_371399		3	78	0	0	0	1	0	3	78				
C9orf69	90120	broad.mit.edu	37	9	139008660	139008660	+	Silent	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr9:139008660G>A	ENST00000418388.1	-	2	589	c.87C>T	c.(85-87)cgC>cgT	p.R29R	C9orf69_ENST00000561457.1_Missense_Mutation_p.A54V			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	29					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GGTGGGAGGCGCGCACGGGCC	0.667																																						uc004cgx.4																			0				endometrium(1)	1						c.(160-162)gCg>gTg		Homo sapiens chromosome 9 open reading frame 69 (C9orf69), mRNA.							35.0	43.0	40.0					9																	139008660		1966	4128	6094	SO:0001819	synonymous_variant	90120							g.chr9:139008660G>A		CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.87C>T	9.37:g.139008660G>A			Somatic				C9orf69_uc004cgy.2_Non-coding_Transcript	p.A54V	NM_152833	NP_690046	WXS	Illumina GAIIx	Phase_I				OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)	1	612	-		Myeloproliferative disorder(178;0.0511)							Missense_Mutation	SNP	ENST00000418388.1	37	c.161C>T	CCDS59155.1																																																																																				0.667	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055043.3	NM_152833		12	20	0	0	0	1	0	12	20				
CASKIN2	57513	broad.mit.edu	37	17	73498980	73498980	+	Silent	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr17:73498980G>A	ENST00000321617.3	-	18	2761	c.2175C>T	c.(2173-2175)agC>agT	p.S725S	CASKIN2_ENST00000433559.2_Silent_p.S643S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	725	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGGGGGGGCTGGGATCTC	0.647																																						uc002joc.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2173-2175)agC>agT		Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.							19.0	21.0	20.0					17																	73498980		2164	4241	6405	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73498980G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2175C>T	17.37:g.73498980G>A			Somatic				CASKIN2_uc010wsc.2_Silent_p.S643S	p.S725S	NM_020753	NP_001136115	WXS	Illumina GAIIx	Phase_I	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		17	2725	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		725			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.2175C>T	CCDS11723.1																																																																																				0.647	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		3	57	0	0	0	1	0	3	57				
SLC12A4	6560	broad.mit.edu	37	16	67986272	67986272	+	Silent	SNP	C	C	T	rs372226074		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr16:67986272C>T	ENST00000316341.3	-	7	872	c.732G>A	c.(730-732)tcG>tcA	p.S244S	SLC12A4_ENST00000422611.2_Silent_p.S246S|SLC12A4_ENST00000338335.3_Silent_p.S244S|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000541864.2_Silent_p.S213S|SLC12A4_ENST00000572037.1_Silent_p.S196S|SLC12A4_ENST00000537830.2_Silent_p.S238S|SLC12A4_ENST00000576616.1_Silent_p.S244S	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	244					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGTGGCATTCGACGTGTCAT	0.453																																						uc010cew.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(496-498)cGa>cAa		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 5, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)	C	,,,,	1,4395	2.1+/-5.4	0,1,2197	185.0	171.0	176.0		732,738,714,639,732	-8.1	0.1	16		176	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	,,,,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,,,,	244/1080,246/1088,238/1080,213/1055,244/1086	67986272	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67986272C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.732G>A	16.37:g.67986272C>T			Somatic				SLC12A4_uc010ceu.2_Silent_p.S238S|SLC12A4_uc010vkh.1_Silent_p.S213S|SLC12A4_uc002euz.2_Silent_p.S244S|SLC12A4_uc010vki.1_Silent_p.S244S|SLC12A4_uc010vkj.1_Silent_p.S246S|SLC12A4_uc002eva.2_Silent_p.S244S|SLC12A4_uc002evb.2_Non-coding_Transcript	p.R166Q			WXS	Illumina GAIIx	Phase_I	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	7	889	-		Ovarian(137;0.192)	0					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.497G>A	CCDS10855.1																																																																																				0.453	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		48	85	0	0	0	1	0	48	85				
LRRFIP1	9208	broad.mit.edu	37	2	238667405	238667405	+	Intron	SNP	G	G	T			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr2:238667405G>T	ENST00000392000.4	+	10	864				LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000308482.9_Missense_Mutation_p.V420L	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CTTTGATTCCGTAAGGAGTGA	0.383																																						uc002vxc.3																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(1258-1260)Gta>Tta		Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 1, mRNA.							147.0	138.0	141.0					2																	238667405		1568	3582	5150	SO:0001627	intron_variant	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238667405G>T	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.748-1302G>T	2.37:g.238667405G>T			Somatic				LRRFIP1_uc010znm.2_Intron|LRRFIP1_uc002vxe.3_Intron|LRRFIP1_uc002vxd.3_Intron|LRRFIP1_uc002vxf.3_Intron	p.V420L	NM_001137550	NP_001131022	WXS	Illumina GAIIx	Phase_I	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	17	1322	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	288					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.1258G>T	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	7.382	0.629073	0.14257	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	T	0.26223	1.75	5.73	-6.45	0.01914	.	.	.	.	.	T	0.10294	0.0252	N	0.11313	0.125	0.80722	D	1	B	0.24675	0.109	B	0.30316	0.114	T	0.39396	-0.9616	9	0.02654	T	1	.	12.504	0.55972	0.32:0.1056:0.5745:0.0	.	420	E9PGZ2	.	L	420;410	ENSP00000310109:V420L	ENSP00000310109:V420L	V	+	1	0	LRRFIP1	238332144	0.994000	0.37717	0.841000	0.33234	0.993000	0.82548	0.601000	0.24119	-1.121000	0.02949	-0.302000	0.09304	GTA		0.383	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		48	66	0	0	0	1	0	48	66				
TSPAN4	7106	broad.mit.edu	37	11	864455	864455	+	Missense_Mutation	SNP	C	C	G			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr11:864455C>G	ENST00000397404.1	+	5	533	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672																																						uc001lsd.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(274-276)Ctg>Gtg		Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.							98.0	95.0	96.0					11																	864455		2203	4299	6502	SO:0001583	missense	7106				protein complex assembly	integral to plasma membrane		g.chr11:864455C>G	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.274C>G	11.37:g.864455C>G	ENSP00000380553:p.Leu92Val		Somatic				TSPAN4_uc001lse.1_Missense_Mutation_p.L28V|TSPAN4_uc001lsf.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsg.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsh.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsi.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsj.1_Missense_Mutation_p.L92V	p.L92V	NM_003271	NP_001020410	WXS	Illumina GAIIx	Phase_I	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	483	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	Missense_Mutation	SNP	ENST00000397404.1	37	c.274C>G	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	7.339	0.620549	0.14193	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000532375;ENST00000346501;ENST00000409531;ENST00000527644	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	3.04	1.98	0.26296	.	0.388801	0.23310	N	0.049564	T	0.54431	0.1858	N	0.04508	-0.205	0.32506	N	0.538191	B	0.12013	0.005	B	0.15870	0.014	T	0.53493	-0.8431	10	0.17369	T	0.5	.	6.829	0.23898	0.4405:0.5595:0.0:0.0	.	92	O14817	TSN4_HUMAN	V	92;92;28;92;28;92;92;28;92;28;92;111;92	ENSP00000380552:L92V;ENSP00000380558:L92V;ENSP00000380551:L28V;ENSP00000380555:L92V;ENSP00000433980:L28V;ENSP00000380554:L92V;ENSP00000386513:L92V;ENSP00000431943:L28V;ENSP00000380553:L92V;ENSP00000434818:L28V;ENSP00000324304:L92V;ENSP00000386899:L111V;ENSP00000436260:L92V	ENSP00000324304:L92V	L	+	1	2	TSPAN4	854455	0.162000	0.22906	1.000000	0.80357	0.819000	0.46315	0.131000	0.15870	1.557000	0.49525	0.313000	0.20887	CTG		0.672	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			3	198	0	0	0	1	0	3	198				
NCL	4691	broad.mit.edu	37	2	232326634	232326634	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr2:232326634G>A	ENST00000322723.4	-	3	470	c.230C>T	c.(229-231)cCa>cTa	p.P77L	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	77	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTTCTTGGCTGGTGTGGCAAC	0.512																																						uc002vru.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(229-231)cCa>cTa		Homo sapiens nucleolin (NCL), mRNA.							186.0	181.0	183.0					2																	232326634		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding	g.chr2:232326634G>A		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.230C>T	2.37:g.232326634G>A	ENSP00000318195:p.Pro77Leu		Somatic				SNORD82_uc010fxw.1_5'Flank	p.P77L	NM_005381	NP_005372	WXS	Illumina GAIIx	Phase_I	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	2	371	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	77			8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.230C>T	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846316	0.71603	.	.	ENSG00000115053	ENST00000322723;ENST00000322732;ENST00000454824;ENST00000417652;ENST00000453992;ENST00000436894	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.37	5.37	0.77165	.	0.115688	0.64402	D	0.000014	T	0.40595	0.1123	L	0.55990	1.75	0.80722	D	1	D	0.55605	0.972	P	0.48304	0.573	T	0.35450	-0.9788	10	0.87932	D	0	-15.3601	18.1506	0.89672	0.0:0.0:1.0:0.0	.	77	P19338	NUCL_HUMAN	L	77;77;61;61;61;61	ENSP00000318195:P77L;ENSP00000401620:P61L;ENSP00000392747:P61L;ENSP00000413775:P61L;ENSP00000401322:P61L	ENSP00000318195:P77L	P	-	2	0	NCL	232034878	1.000000	0.71417	0.950000	0.38849	0.833000	0.47200	7.237000	0.78164	2.528000	0.85240	0.650000	0.86243	CCA		0.512	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		4	190	0	0	0	1	0	4	190				
PPRC1	23082	broad.mit.edu	37	10	103898733	103898733	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr10:103898733G>A	ENST00000278070.2	+	4	626	c.587G>A	c.(586-588)aGt>aAt	p.S196N	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.S196N	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGTAGAGGGAGTGGGGTAAGC	0.557																																						uc001kum.3																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(586-588)aGt>aAt		Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.							57.0	63.0	61.0					10																	103898733		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding	g.chr10:103898733G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.587G>A	10.37:g.103898733G>A	ENSP00000278070:p.Ser196Asn		Somatic				PPRC1_uc001kun.3_Missense_Mutation_p.S76N|PPRC1_uc010qqj.2_Missense_Mutation_p.S196N|PPRC1_uc009xxa.3_5'Flank	p.S196N	NM_015062	NP_055877	WXS	Illumina GAIIx	Phase_I	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	3	626	+		Colorectal(252;0.122)	196					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.587G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119789	0.37436	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.59364	0.27;0.27	4.5	0.519	0.17035	.	0.449943	0.22173	N	0.063604	T	0.33381	0.0861	N	0.19112	0.55	0.25122	N	0.990637	B;B;B	0.11235	0.003;0.004;0.001	B;B;B	0.11329	0.003;0.006;0.004	T	0.17198	-1.0377	10	0.59425	D	0.04	.	1.0618	0.01602	0.2692:0.1543:0.4179:0.1585	.	196;76;196	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	N	196	ENSP00000278070:S196N;ENSP00000399743:S196N	ENSP00000278070:S196N	S	+	2	0	PPRC1	103888723	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	0.681000	0.25320	0.011000	0.14865	0.561000	0.74099	AGT		0.557	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		3	86	0	0	0	1	0	3	86				
ZCCHC10	54819	broad.mit.edu	37	5	132334494	132334494	+	Silent	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr5:132334494G>A	ENST00000509437.1	-	5	367	c.360C>T	c.(358-360)gcC>gcT	p.A120A	ZCCHC10_ENST00000355372.2_Silent_p.A114A|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000324170.3_Silent_p.A98A|ZCCHC10_ENST00000513848.1_Silent_p.A84A|ZCCHC10_ENST00000509008.1_3'UTR			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	120	Ser-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAATCACTGGCAGAACTGT	0.438																																						uc003kyh.3																			0				skin(1)	1						c.(358-360)gcC>gcT		Homo sapiens zinc finger, CCHC domain containing 10 (ZCCHC10), mRNA.							143.0	133.0	136.0					5																	132334494		2203	4300	6503	SO:0001819	synonymous_variant	54819						nucleic acid binding|zinc ion binding	g.chr5:132334494G>A	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"""Zinc fingers, CCHC domain containing"""	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.360C>T	5.37:g.132334494G>A			Somatic				ZCCHC10_uc003kyg.3_Silent_p.A98A|ZCCHC10_uc011cxl.2_Silent_p.A84A	p.A120A	NM_017665	NP_060135	WXS	Illumina GAIIx	Phase_I	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	371	-			120			Ser-rich.		Q9NXR4	Silent	SNP	ENST00000509437.1	37	c.360C>T																																																																																					0.438	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	NM_017665		48	69	0	0	0	1	0	48	69				
SLC1A6	6511	broad.mit.edu	37	19	15073100	15073100	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr19:15073100C>T	ENST00000221742.3	-	5	656	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	SLC1A6_ENST00000600144.1_Missense_Mutation_p.G217R|SLC1A6_ENST00000544886.2_Missense_Mutation_p.G217R|SLC1A6_ENST00000430939.2_Missense_Mutation_p.G153R|SLC1A6_ENST00000598504.1_Missense_Mutation_p.G217R	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	217					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGCTCAGACCCGTTCTCTGTC	0.552																																						uc002naa.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(649-651)Ggg>Agg		Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	L-Glutamic Acid(DB00142)						125.0	116.0	119.0					19																	15073100		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15073100C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.649G>A	19.37:g.15073100C>T	ENSP00000221742:p.Gly217Arg		Somatic				SLC1A6_uc010dzu.1_Missense_Mutation_p.G217R|SLC1A6_uc010xod.1_Missense_Mutation_p.G153R|SLC1A6_uc002nab.3_Missense_Mutation_p.G217R|SLC1A6_uc002nac.3_Missense_Mutation_p.G217R	p.G217R	NM_005071	NP_005062	WXS	Illumina GAIIx	Phase_I	P48664	EAA4_HUMAN			4	656	-			217					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.649G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	7.204	0.594043	0.13875	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.70869	-0.52;0.56;1.3	4.42	3.33	0.38152	.	0.365309	0.27797	N	0.017813	T	0.52533	0.1740	L	0.38175	1.15	0.20074	N	0.999932	B;B;B	0.15930	0.011;0.007;0.015	B;B;B	0.13407	0.008;0.004;0.009	T	0.17048	-1.0382	10	0.16420	T	0.52	-19.7986	5.2147	0.15336	0.0:0.7687:0.0:0.2313	.	153;217;217	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	R	153;217;217	ENSP00000409386:G153R;ENSP00000221742:G217R;ENSP00000446175:G217R	ENSP00000221742:G217R	G	-	1	0	SLC1A6	14934100	0.126000	0.22350	0.765000	0.31456	0.648000	0.38561	0.921000	0.28718	2.310000	0.77875	0.454000	0.30748	GGG		0.552	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		55	103	0	0	0	1	0	55	103				
CCDC39	339829	broad.mit.edu	37	3	180370001	180370001	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr3:180370001delC	ENST00000442201.2	-	8	1103	c.984delG	c.(982-984)ctgfs	p.L328fs	CCDC39_ENST00000273654.4_Frame_Shift_Del_p.L412fs	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	328					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TATTTTTCCTCAGAGCTTCTA	0.274																																						uc010hxe.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(982-984)ctgfs		Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.							30.0	28.0	28.0					3																	180370001		1729	3892	5621	SO:0001589	frameshift_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180370001delC	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.984delG	3.37:g.180370001delC	ENSP00000405708:p.Leu328fs		Somatic				CCDC39_uc003fkn.3_Non-coding_Transcript	p.L328fs	NM_181426	NP_852091	WXS	Illumina GAIIx	Phase_I	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		7	1099	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		328					B4E2H1	Frame_Shift_Del	DEL	ENST00000442201.2	37	c.984delG	CCDS46964.1																																																																																				0.274	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		2	4						2	4	---	---	---	---
C20orf144	128864	broad.mit.edu	37	20	32251496	32251497	+	In_Frame_Ins	INS	-	-	CTG			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr20:32251496_32251497insCTG	ENST00000375222.3	+	2	347_348	c.285_286insCTG	c.(286-288)ctg>CTGctg	p.96_96L>LL	NECAB3_ENST00000375238.4_Intron|ACTL10_ENST00000330271.4_5'Flank|NECAB3_ENST00000606525.1_5'Flank|NECAB3_ENST00000246190.6_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	96										lung(1)	1						GGATGCCGGTACTGCTGCTGCT	0.748																																						uc002wzs.2																			0				lung(1)	1						c.(283-288)insCTG		Homo sapiens chromosome 20 open reading frame 144 (C20orf144), mRNA.			,,	9,2599		4,1,1299					,,	-5.1	0.0		dbSNP_134	4	8,5796		2,4,2896	no	coding,intron,intron	NECAB3,C20orf144	NM_080825.3,NM_031232.3,NM_031231.3	,,	6,5,4195	A1A1,A1R,RR		0.1378,0.3451,0.2021	,,	,,		17,8395				SO:0001652	inframe_insertion	128864							g.chr20:32251496_32251497insCTG	AL121906	CCDS13223.1	20q11.22	2012-07-17			ENSG00000149609	ENSG00000149609			16137	protein-coding gene	gene with protein product	"""bcl-2-like protein from testis"""					11780052	Standard	NM_080825		Approved	dJ63M2.6, bclt	uc002wzs.2	Q9BQM9	OTTHUMG00000032263	ENST00000375222.3:c.295_297dupCTG	20.37:g.32251503_32251505dupCTG	ENSP00000364370:p.Leu99dup		Somatic				NECAB3_uc002wzl.3_5'Flank|NECAB3_uc002wzm.4_Intron|NECAB3_uc002wzn.4_Intron|NECAB3_uc002wzo.4_Intron|ACTL10_uc002wzt.3_5'Flank	p.99_100insL	NM_080825	NP_543015	WXS	Illumina GAIIx	Phase_I	Q9BQM9	CT144_HUMAN			1	345_346	+			99					Q1AHR2	In_Frame_Ins	INS	ENST00000375222.3	37	c.285_286insCTG	CCDS13223.1																																																																																				0.748	C20orf144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078714.2	NM_080825		6	6						6	6	---	---	---	---
