#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FAM187B	148109	broad.mit.edu	37	19	35719389	35719389	+	Missense_Mutation	SNP	G	G	C			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr19:35719389G>C	ENST00000324675.3	-	1	243	c.195C>G	c.(193-195)agC>agG	p.S65R		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	65						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TATTGGTGAGGCTGGTGAGCC	0.507																																						ENST00000324675.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(193-195)agC>agG		family with sequence similarity 187, member B							58.0	60.0	59.0					19																	35719389		2203	4300	6503	SO:0001583	missense	148109					integral to membrane		g.chr19:35719389G>C	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.195C>G	19.37:g.35719389G>C	ENSP00000323355:p.Ser65Arg						p.S65R	NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN			1	243	-			65					Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	c.195C>G	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	G	1.628	-0.519733	0.04171	.	.	ENSG00000177558	ENST00000324675	T	0.22743	1.94	3.97	0.628	0.17681	Immunoglobulin-like fold (1);	3.059060	0.00827	N	0.001620	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B	0.34241	0.444	B	0.32149	0.141	T	0.13495	-1.0507	10	0.28530	T	0.3	-3.4383	3.3773	0.07242	0.2196:0.0:0.5628:0.2176	.	65	Q17R55	F187B_HUMAN	R	65	ENSP00000323355:S65R	ENSP00000323355:S65R	S	-	3	2	FAM187B	40411229	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.067000	0.11579	0.237000	0.21200	-0.251000	0.11542	AGC		0.507	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		14	39	0	0	0	1	0	14	39				
ZNF845	91664	broad.mit.edu	37	19	53854724	53854724	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr19:53854724A>G	ENST00000595091.1	+	5	1015	c.796A>G	c.(796-798)Act>Gct	p.T266A	ZNF845_ENST00000458035.1_Missense_Mutation_p.T266A			Q96IR2	ZN845_HUMAN	zinc finger protein 845	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAGATGTCACACTGGCAAGAA	0.388																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(796-798)Act>Gct		zinc finger protein 845							103.0	85.0	90.0					19																	53854724		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854724A>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.796A>G	19.37:g.53854724A>G	ENSP00000470005:p.Thr266Ala					ZNF845_ENST00000595091.1_Missense_Mutation_p.T266A	p.T266A	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	913	+			266						Missense_Mutation	SNP	ENST00000595091.1	37	c.796A>G	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	12.07	1.827114	0.32329	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.26518	1.73	1.91	1.91	0.25777	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31827	0.0809	M	0.73598	2.24	0.22240	N	0.999269	B	0.22276	0.067	B	0.31812	0.136	T	0.35674	-0.9779	9	0.59425	D	0.04	.	8.5551	0.33476	1.0:0.0:0.0:0.0	.	266	Q96IR2	ZN845_HUMAN	A	266	ENSP00000388311:T266A	ENSP00000412086:T266A	T	+	1	0	ZNF845	58546536	0.002000	0.14202	0.009000	0.14445	0.199000	0.23934	0.731000	0.26058	0.865000	0.35603	0.172000	0.16884	ACT		0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		14	33	0	0	0	1	0	14	33				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																729171							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	48	0	0	0	1	0	3	48				
KIAA2013	90231	broad.mit.edu	37	1	11985396	11985396	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr1:11985396A>G	ENST00000376572.3	-	1	1084	c.899T>C	c.(898-900)cTc>cCc	p.L300P	KIAA2013_ENST00000376576.3_Missense_Mutation_p.L300P	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	300						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCTTTTGAGCACCTGGGG	0.597																																						ENST00000376572.3																			0				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7						c.(898-900)cTc>cCc		KIAA2013							63.0	62.0	62.0					1																	11985396		2203	4300	6503	SO:0001583	missense	90231					integral to membrane		g.chr1:11985396A>G	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.899T>C	1.37:g.11985396A>G	ENSP00000365756:p.Leu300Pro					KIAA2013_ENST00000376576.3_Missense_Mutation_p.L300P	p.L300P	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1084	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	300					Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	c.899T>C	CCDS141.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542851	0.27563	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	3.9	3.9	0.45041	.	0.451826	0.20244	N	0.096238	T	0.53706	0.1813	L	0.40543	1.245	0.54753	D	0.999987	D;D	0.69078	0.997;0.97	P;P	0.62382	0.901;0.859	T	0.50110	-0.8866	9	0.27082	T	0.32	-7.7378	5.53	0.16978	0.8693:0.0:0.1307:0.0	.	300;300	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	P	300	.	ENSP00000365756:L300P	L	-	2	0	KIAA2013	11907983	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.737000	0.55060	1.767000	0.52121	0.421000	0.28195	CTC		0.597	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		3	32	0	0	0	1	0	3	32				
TECRL	253017	broad.mit.edu	37	4	65188460	65188460	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr4:65188460A>G	ENST00000381210.3	-	4	492	c.382T>C	c.(382-384)Tcc>Ccc	p.S128P	TECRL_ENST00000513125.1_5'Flank|TECRL_ENST00000507440.1_Missense_Mutation_p.S128P	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	128					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTGACAATGGAGGAAGCTGCA	0.323																																						ENST00000381210.3																			0				endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(382-384)Tcc>Ccc		trans-2,3-enoyl-CoA reductase-like							78.0	78.0	78.0					4																	65188460		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65188460A>G	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.382T>C	4.37:g.65188460A>G	ENSP00000370607:p.Ser128Pro					TECRL_ENST00000507440.1_Missense_Mutation_p.S128P	p.S128P	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			4	492	-			128						Missense_Mutation	SNP	ENST00000381210.3	37	c.382T>C	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.716850	0.48622	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.47869	0.83;0.83;0.83	5.78	5.78	0.91487	.	0.123068	0.56097	D	0.000025	T	0.67277	0.2876	M	0.74881	2.28	0.47659	D	0.999486	D;D	0.76494	0.999;0.995	D;D	0.83275	0.996;0.979	T	0.69316	-0.5177	10	0.51188	T	0.08	-1.2428	12.4839	0.55861	1.0:0.0:0.0:0.0	.	128;128	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	P	128	ENSP00000426043:S128P;ENSP00000370607:S128P;ENSP00000422497:S128P	ENSP00000370607:S128P	S	-	1	0	TECRL	64871055	1.000000	0.71417	0.958000	0.39756	0.093000	0.18481	5.636000	0.67848	2.202000	0.70862	0.477000	0.44152	TCC		0.323	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		4	73	0	0	0	1	0	4	73				
NIN	51199	broad.mit.edu	37	14	51190309	51190309	+	IGR	SNP	T	T	C			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr14:51190309T>C	ENST00000382041.3	-	0	6496				RP11-248J18.3_ENST00000602615.1_RNA|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000245441.5_Missense_Mutation_p.T2092A|NIN_ENST00000530997.2_Missense_Mutation_p.T2092A	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)						centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CGCTGTTCAGTCACTTCCAGA	0.443			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(6274-6276)Act>Gct		ninein (GSK3B interacting protein)							151.0	145.0	147.0					14																	51190309		1897	4114	6011	SO:0001628	intergenic_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51190309T>C	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569		14.37:g.51190309T>C						NIN_ENST00000389868.3_3'UTR|NIN_ENST00000530997.2_Missense_Mutation_p.T2092A	p.T2092A	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			31	6464	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1939					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.6274A>G	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.5|27.5	4.837077|4.837077	0.91117|0.91117	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997|ENST00000245441;ENST00000311149	.|T	.|0.41065	.|1.01	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.239380	.|0.40222	.|N	.|0.001147	T|T	0.57799|0.57799	0.2078|0.2078	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|D	.|0.61697	.|0.99	.|D	.|0.63113	.|0.911	T|T	0.53704|0.53704	-0.8401|-0.8401	5|10	.|0.13108	.|T	.|0.6	-9.965|-9.965	15.5442|15.5442	0.76081|0.76081	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2092	.|Q8N4C6-7	.|.	G|A	1582|2092;2075	.|ENSP00000245441:T2092A	.|ENSP00000245441:T2092A	D|T	-|-	2|1	0|0	NIN|NIN	50260059|50260059	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.517000|7.517000	0.81783|0.81783	2.266000|2.266000	0.75297|0.75297	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.443	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		4	78	0	0	0	1	0	4	78				
PLAT	5327	broad.mit.edu	37	8	42045067	42045067	+	Missense_Mutation	SNP	C	C	G			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr8:42045067C>G	ENST00000220809.4	-	6	644	c.388G>C	c.(388-390)Gac>Cac	p.D130H	PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.D130H|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000270189.6_Missense_Mutation_p.D130H|PLAT_ENST00000352041.3_Missense_Mutation_p.D84H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	130	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	ATGCCCTGGTCCTCGTAGCAC	0.637																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(388-390)Gac>Cac		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						43.0	36.0	39.0					8																	42045067		2203	4299	6502	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42045067C>G		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.388G>C	8.37:g.42045067C>G	ENSP00000220809:p.Asp130His					PLAT_ENST00000352041.3_Missense_Mutation_p.D84H|PLAT_ENST00000429089.2_Missense_Mutation_p.D130H|PLAT_ENST00000270189.6_Missense_Mutation_p.D130H|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000519510.1_Intron	p.D130H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		6	644	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	130			Kringle 1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.388G>C	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355743	0.61293	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000520523;ENST00000521694	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.95	5.95	0.96441	Kringle (4);Kringle-like fold (1);	0.413335	0.30800	N	0.008854	T	0.78874	0.4352	M	0.79805	2.47	0.27870	N	0.940078	P;P;P	0.48230	0.898;0.627;0.907	P;B;P	0.62014	0.533;0.094;0.897	T	0.74551	-0.3628	10	0.59425	D	0.04	.	15.517	0.75833	0.0:0.9324:0.0:0.0676	.	130;84;130	B8ZX62;P00750-3;P00750	.;.;TPA_HUMAN	H	130;130;130;84;130;130	ENSP00000270189:D130H;ENSP00000392045:D130H;ENSP00000220809:D130H;ENSP00000270188:D84H;ENSP00000428797:D130H;ENSP00000429801:D130H	ENSP00000220809:D130H	D	-	1	0	PLAT	42164224	0.407000	0.25352	0.853000	0.33588	0.272000	0.26649	4.273000	0.58914	2.824000	0.97209	0.655000	0.94253	GAC		0.637	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		8	19	0	0	0	1	0	8	19				
ALOX15	246	broad.mit.edu	37	17	4535050	4535050	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr17:4535050C>A	ENST00000570836.1	-	15	1930	c.1834G>T	c.(1834-1836)Gag>Tag	p.E612*	ALOX15_ENST00000574640.1_Nonsense_Mutation_p.E573*|ALOX15_ENST00000545513.1_Nonsense_Mutation_p.E634*|ALOX15_ENST00000293761.3_Nonsense_Mutation_p.E612*			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	612	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GAAAAATACTCCTCCTCATGC	0.577																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(1834-1836)Gag>Tag		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						101.0	102.0	101.0					17																	4535050		2203	4300	6503	SO:0001587	stop_gained	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4535050C>A	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1834G>T	17.37:g.4535050C>A	ENSP00000458832:p.Glu612*					ALOX15_ENST00000574640.1_Nonsense_Mutation_p.E573*|ALOX15_ENST00000545513.1_Nonsense_Mutation_p.E634*|ALOX15_ENST00000293761.3_Nonsense_Mutation_p.E612*	p.E612*			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	15	1930	-			612			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Nonsense_Mutation	SNP	ENST00000570836.1	37	c.1834G>T	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301126	0.95601	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	.	.	.	3.99	1.71	0.24356	.	0.243593	0.32473	N	0.006054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-0.5896	9.8294	0.40932	0.0:0.5937:0.4063:0.0	.	.	.	.	X	612;634	.	ENSP00000293761:E612X	E	-	1	0	ALOX15	4481799	0.985000	0.35326	0.998000	0.56505	0.994000	0.84299	-0.000000	0.12993	0.820000	0.34516	0.563000	0.77884	GAG		0.577	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			4	52	1	0	0.00024832	1	0.00027936	4	52				
ATG9B	285973	broad.mit.edu	37	7	150713794	150713794	+	Missense_Mutation	SNP	C	C	A			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr7:150713794C>A	ENST00000377974.2	-	11	2477	c.2402G>T	c.(2401-2403)cGa>cTa	p.R801L	ATG9B_ENST00000444312.1_Missense_Mutation_p.R287L|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	802					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGGCAATTCGGGAAATGGA	0.662																																						ENST00000377974.2																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(2401-2403)cGa>cTa		autophagy related 9B							35.0	39.0	38.0					7																	150713794		692	1591	2283	SO:0001583	missense	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150713794C>A	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2402G>T	7.37:g.150713794C>A	ENSP00000475005:p.Arg801Leu					ATG9B_ENST00000444312.1_Missense_Mutation_p.R287L|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR	p.R801L			Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	2477	-	all_neural(206;0.219)		802					A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37	c.2402G>T		.	.	.	.	.	.	.	.	.	.	C	13.92	2.381004	0.42207	.	.	ENSG00000248602	ENST00000377974;ENST00000444312	.	.	.	5.54	3.47	0.39725	.	0.544272	0.19726	N	0.107478	T	0.26919	0.0659	.	.	.	.	.	.	P	0.43024	0.798	B	0.37692	0.256	T	0.24799	-1.0150	7	0.33940	T	0.23	-17.2276	7.254	0.26166	0.1735:0.7294:0.0:0.0971	.	802	Q674R7	ATG9B_HUMAN	L	801;287	.	ENSP00000444232:R801L	R	-	2	0	AC010973.1	150344727	.	.	0.957000	0.39632	0.907000	0.53573	.	.	2.595000	0.87683	0.561000	0.74099	CGA		0.662	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		3	13	1	0	0.004672	1	0.00485169	3	13				
FMOD	2331	broad.mit.edu	37	1	203316735	203316735	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr1:203316735G>A	ENST00000354955.4	-	2	1127	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	222					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			AGTGACCGGAGGCCCCTCATG	0.567																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(664-666)Ctc>Ttc		fibromodulin							94.0	92.0	93.0					1																	203316735		2203	4300	6503	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316735G>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.664C>T	1.37:g.203316735G>A	ENSP00000347041:p.Leu222Phe					FMOD_ENST00000464898.1_5'UTR	p.L222F	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1127	-			222					Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.664C>T	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453974	0.63290	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.71698	-0.59	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.81475	0.4830	M	0.80508	2.5	0.58432	D	0.999996	D	0.67145	0.996	P	0.61477	0.889	D	0.83844	0.0259	10	0.87932	D	0	-14.4651	10.8507	0.46769	0.0867:0.0:0.9133:0.0	.	222	Q06828	FMOD_HUMAN	F	209;222	ENSP00000347041:L222F	ENSP00000347041:L222F	L	-	1	0	FMOD	201583358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.863000	0.48396	2.414000	0.81942	0.655000	0.94253	CTC		0.567	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		20	72	0	0	0	1	0	20	72				
PLAT	5327	broad.mit.edu	37	8	42045068	42045068	+	Silent	SNP	C	C	T			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr8:42045068C>T	ENST00000220809.4	-	6	643	c.387G>A	c.(385-387)gaG>gaA	p.E129E	PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Silent_p.E129E|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000270189.6_Silent_p.E129E|PLAT_ENST00000352041.3_Silent_p.E83E	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	129	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	TGCCCTGGTCCTCGTAGCACG	0.637																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(385-387)gaG>gaA		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						43.0	36.0	38.0					8																	42045068		2203	4299	6502	SO:0001819	synonymous_variant	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42045068C>T		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.387G>A	8.37:g.42045068C>T						PLAT_ENST00000352041.3_Silent_p.E83E|PLAT_ENST00000429089.2_Silent_p.E129E|PLAT_ENST00000270189.6_Silent_p.E129E|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000519510.1_Intron	p.E129E	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		6	643	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	129			Kringle 1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Silent	SNP	ENST00000220809.4	37	c.387G>A	CCDS6126.1																																																																																				0.637	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		8	19	0	0	0	1	0	8	19				
TRIM38	10475	broad.mit.edu	37	6	25966899	25966899	+	Missense_Mutation	SNP	A	A	C			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr6:25966899A>C	ENST00000357085.3	+	3	625	c.149A>C	c.(148-150)aAg>aCg	p.K50T	TRIM38_ENST00000349458.3_Missense_Mutation_p.K50T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	50					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CCAAGCCAAAAGCAACTGAGG	0.507																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(148-150)aAg>aCg		tripartite motif containing 38							87.0	84.0	85.0					6																	25966899		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25966899A>C	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.149A>C	6.37:g.25966899A>C	ENSP00000349596:p.Lys50Thr					TRIM38_ENST00000349458.3_Missense_Mutation_p.K50T	p.K50T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			3	625	+			50					B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.149A>C	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	a	0.093	-1.163495	0.01673	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.08008	3.14;3.14;3.14	3.09	-6.19	0.02078	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	7.995230	0.00166	N	0.000000	T	0.01189	0.0039	L	0.29908	0.895	0.09310	N	1	B;B	0.22983	0.078;0.078	B;B	0.25614	0.062;0.062	T	0.40831	-0.9542	10	0.13853	T	0.58	.	2.3194	0.04207	0.261:0.432:0.1128:0.1942	.	50;50	B2R862;O00635	.;TRI38_HUMAN	T	50	ENSP00000443976:K50T;ENSP00000230099:K50T;ENSP00000349596:K50T	ENSP00000230099:K50T	K	+	2	0	TRIM38	26074878	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.956000	0.00326	-2.627000	0.00436	0.477000	0.44152	AAG		0.507	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			3	44	0	0	0	1	0	3	44				
POLA1	5422	broad.mit.edu	37	X	24761358	24761358	+	Silent	SNP	T	T	C			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chrX:24761358T>C	ENST00000379059.3	+	23	2475	c.2460T>C	c.(2458-2460)gaT>gaC	p.D820D	POLA1_ENST00000379068.3_Silent_p.D826D|SCARNA23_ENST00000516060.1_RNA	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	820					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GAGATGAAGATGAAGAAATTG	0.378																																						ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(2476-2478)gaT>gaC		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)						96.0	90.0	92.0					X																	24761358		2203	4300	6503	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24761358T>C		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2460T>C	X.37:g.24761358T>C						POLA1_ENST00000379059.3_Silent_p.D820D	p.D826D			P09884	DPOLA_HUMAN			23	2521	+			820					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.2478T>C	CCDS14214.1																																																																																				0.378	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		3	37	0	0	0	1	0	3	37				
POLN	353497	broad.mit.edu	37	4	2129863	2129863	+	Silent	SNP	T	T	C			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr4:2129863T>C	ENST00000511885.2	-	19	2312	c.1959A>G	c.(1957-1959)gtA>gtG	p.V653V	POLN_ENST00000382865.1_Silent_p.V653V			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	653					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GAGTAGAAAATACATCATCTC	0.368								DNA polymerases (catalytic subunits)																														ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(1957-1959)gtA>gtG	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							74.0	73.0	73.0					4																	2129863		2203	4300	6503	SO:0001819	synonymous_variant	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2129863T>C	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1959A>G	4.37:g.2129863T>C						POLN_ENST00000382865.1_Silent_p.V653V	p.V653V			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		19	2312	-			653					A2A336|B4E158|Q4TTW4|Q6ZNF4	Silent	SNP	ENST00000511885.2	37	c.1959A>G	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.275758	0.23307	.	.	ENSG00000130997	ENST00000511098	.	.	.	5.19	-9.85	0.00476	.	.	.	.	.	T	0.48021	0.1477	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.58907	-0.7553	4	.	.	.	-18.8352	10.1676	0.42890	0.0:0.5005:0.3452:0.1543	.	.	.	.	C	286	.	.	Y	-	2	0	POLN	2099661	0.002000	0.14202	0.883000	0.34634	0.993000	0.82548	-3.097000	0.00606	-1.324000	0.02272	-0.408000	0.06270	TAT		0.368	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		6	26	0	0	0	1	0	6	26				
SORCS3	22986	broad.mit.edu	37	10	106976779	106976779	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr10:106976779G>A	ENST00000369701.3	+	19	2860	c.2633G>A	c.(2632-2634)gGc>gAc	p.G878D	SORCS3_ENST00000369699.4_Missense_Mutation_p.G164D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	878	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCGAGGACGGCATCAAGCAC	0.517																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2632-2634)gGc>gAc		sortilin-related VPS10 domain containing receptor 3							181.0	137.0	152.0					10																	106976779		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976779G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2633G>A	10.37:g.106976779G>A	ENSP00000358715:p.Gly878Asp					SORCS3_ENST00000369699.4_Missense_Mutation_p.G164D	p.G878D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	19	2860	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	878			PKD.		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2633G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025951	0.93518	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.61859	0.07;0.07	5.87	5.87	0.94306	PKD domain (4);	0.000000	0.85682	D	0.000000	T	0.76926	0.4056	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73789	-0.3872	9	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	878	Q9UPU3	SORC3_HUMAN	D	878;164	ENSP00000358715:G878D;ENSP00000358713:G164D	.	G	+	2	0	SORCS3	106966769	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	GGC		0.517	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		3	50	0	0	0	1	0	3	50				
AQP7	364	broad.mit.edu	37	9	33385626	33385626	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr9:33385626G>A	ENST00000537089.1	-	6	806	c.488C>T	c.(487-489)cCa>cTa	p.P163L	AQP7_ENST00000541274.1_Silent_p.P123P|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.P255L			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TCAAAGGAATGGGCCTGGGCA	0.622																																						ENST00000537089.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(487-489)cCa>cTa		aquaporin 7							43.0	51.0	48.0					9																	33385626		2201	4299	6500	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385626G>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.488C>T	9.37:g.33385626G>A	ENSP00000441619:p.Pro163Leu					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.P255L|AQP7_ENST00000541274.1_Silent_p.P123P	p.P163L			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	6	806	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37	c.488C>T		.	.	.	.	.	.	.	.	.	.	g	16.76	3.211768	0.58452	.	.	ENSG00000165269	ENST00000537089;ENST00000379506;ENST00000539936;ENST00000379503	D;D;D;D	0.94758	-3.09;-2.02;-2.01;-3.51	4.57	1.49	0.22878	.	.	.	.	.	D	0.95993	0.8695	.	.	.	0.09310	N	0.999995	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.973	D	0.88018	0.2767	8	0.87932	D	0	.	5.5898	0.17295	0.1855:0.0:0.6552:0.1593	.	254;255	Q5T5M0;B7Z4U2	.;.	L	163;254;255;191	ENSP00000441619:P163L;ENSP00000368820:P254L;ENSP00000439534:P255L;ENSP00000368817:P191L	ENSP00000368817:P191L	P	-	2	0	AQP7	33375626	0.000000	0.05858	0.002000	0.10522	0.359000	0.29487	0.295000	0.19065	0.660000	0.30964	0.550000	0.68814	CCA		0.622	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	52	0	0	0	1	0	4	52				
IL4R	3566	broad.mit.edu	37	16	27374978	27374978	+	Missense_Mutation	SNP	G	G	T			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr16:27374978G>T	ENST00000395762.2	+	11	2564	c.2305G>T	c.(2305-2307)Gtt>Ttt	p.V769F	IL4R_ENST00000170630.2_Missense_Mutation_p.V769F|IL4R_ENST00000380922.3_Missense_Mutation_p.V754F|IL4R_ENST00000543915.2_Missense_Mutation_p.V769F	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	769					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TCCAGGTGGGGTTCCACTGGA	0.637																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(2305-2307)Gtt>Ttt		interleukin 4 receptor							33.0	37.0	36.0					16																	27374978		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27374978G>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.2305G>T	16.37:g.27374978G>T	ENSP00000379111:p.Val769Phe					IL4R_ENST00000170630.2_Missense_Mutation_p.V769F|IL4R_ENST00000380922.3_Missense_Mutation_p.V754F|IL4R_ENST00000543915.2_Missense_Mutation_p.V769F	p.V769F	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			11	2564	+			769					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.2305G>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016350	0.54468	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	4.63	-7.34	0.01427	.	20.742600	0.00166	N	0.000001	T	0.10551	0.0258	L	0.51422	1.61	0.09310	N	1	P;P;P	0.41910	0.764;0.764;0.764	B;B;B	0.31245	0.126;0.126;0.126	T	0.42032	-0.9475	10	0.72032	D	0.01	-1.3257	7.6406	0.28292	0.4881:0.3725:0.1394:0.0	.	754;769;769	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	F	769;769;754;769	ENSP00000379111:V769F;ENSP00000441667:V769F;ENSP00000370309:V754F;ENSP00000170630:V769F	ENSP00000170630:V769F	V	+	1	0	IL4R	27282479	0.000000	0.05858	0.000000	0.03702	0.670000	0.39368	-0.514000	0.06298	-1.238000	0.02535	-0.229000	0.12294	GTT		0.637	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			13	28	1	0	0.00010058	1	0.000118072	13	28				
LPCAT3	10162	broad.mit.edu	37	12	7086308	7086308	+	Nonstop_Mutation	SNP	T	T	G			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr12:7086308T>G	ENST00000261407.4	-	12	1549	c.1464A>C	c.(1462-1464)taA>taC	p.*488Y	LPCAT3_ENST00000535021.1_5'UTR|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	0					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						GGGAAATGGATTATTCCATCT	0.368																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(1462-1464)taA>taC		lysophosphatidylcholine acyltransferase 3							63.0	68.0	66.0					12																	7086308		2203	4300	6503	SO:0001578	stop_lost	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7086308T>G	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1464A>C	12.37:g.7086308T>G						U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_5'UTR	p.*488Y	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			12	1549	-			0					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Nonstop_Mutation	SNP	ENST00000261407.4	37	c.1464A>C	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	T	2.998	-0.206735	0.06180	.	.	ENSG00000111684	ENST00000261407	.	.	.	4.77	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1826	0.31319	0.0:0.0903:0.0:0.9097	.	.	.	.	Y	488	.	.	X	-	3	2	LPCAT3	6956569	0.940000	0.31905	0.403000	0.26384	0.226000	0.24999	1.552000	0.36244	0.863000	0.35553	0.459000	0.35465	TAA		0.368	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		19	45	0	0	0	1	0	19	45				
LRP1	4035	broad.mit.edu	37	12	57589943	57589943	+	Silent	SNP	C	C	T	rs139174222		TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr12:57589943C>T	ENST00000243077.3	+	55	9241	c.8775C>T	c.(8773-8775)aaC>aaT	p.N2925N	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2925	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCTCTGCAACGGCCAGGATG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19395	0.0		0.0	False		,,,				2504	0.0					ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8773-8775)aaC>aaT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	C		0,4406		0,0,2203	64.0	58.0	60.0		8775	-7.9	0.2	12	dbSNP_134	60	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LRP1	NM_002332.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		2925/4545	57589943	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57589943C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8775C>T	12.37:g.57589943C>T							p.N2925N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	55	9241	+			2925			LDL-receptor class A 20.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.8775C>T	CCDS8932.1																																																																																				0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		16	40	0	0	0	1	0	16	40				
SLC17A6	57084	broad.mit.edu	37	11	22396360	22396360	+	Silent	SNP	A	A	G			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr11:22396360A>G	ENST00000263160.3	+	9	1538	c.1101A>G	c.(1099-1101)ggA>ggG	p.G367G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	367					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTATTGGGGGACAAATTGCAG	0.388																																						ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(1099-1101)ggA>ggG		solute carrier family 17 (vesicular glutamate transporter), member 6							226.0	222.0	224.0					11																	22396360		2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22396360A>G	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1101A>G	11.37:g.22396360A>G							p.G367G	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN			9	1538	+			367					A6NKS2	Silent	SNP	ENST00000263160.3	37	c.1101A>G	CCDS7856.1																																																																																				0.388	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		45	113	0	0	0	1	0	45	113				
PTPN12	5782	broad.mit.edu	37	7	77256458	77256458	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr7:77256458G>A	ENST00000248594.6	+	13	1734	c.1462G>A	c.(1462-1464)Ggt>Agt	p.G488S	PTPN12_ENST00000415482.2_Missense_Mutation_p.G369S|PTPN12_ENST00000435495.2_Missense_Mutation_p.G358S	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	488					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCTAAATGTCGGTGATACTTC	0.383																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(1462-1464)Ggt>Agt		protein tyrosine phosphatase, non-receptor type 12							70.0	69.0	69.0					7																	77256458		2203	4300	6503	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256458G>A		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1462G>A	7.37:g.77256458G>A	ENSP00000248594:p.Gly488Ser					PTPN12_ENST00000415482.2_Missense_Mutation_p.G369S|PTPN12_ENST00000435495.2_Missense_Mutation_p.G358S	p.G488S	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			13	1734	+			488					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.1462G>A	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	g	0.064	-1.216375	0.01542	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.05925	3.96;3.37;3.37	5.92	0.738	0.18319	.	0.610150	0.17747	N	0.163343	T	0.02418	0.0074	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48536	-0.9027	10	0.10377	T	0.69	.	8.9549	0.35812	0.1963:0.192:0.6117:0.0	.	488	Q05209	PTN12_HUMAN	S	488;369;369;358	ENSP00000248594:G488S;ENSP00000392429:G369S;ENSP00000397991:G358S	ENSP00000248594:G488S	G	+	1	0	PTPN12	77094394	0.014000	0.17966	0.000000	0.03702	0.227000	0.25037	1.413000	0.34725	-0.342000	0.08363	-1.972000	0.00464	GGT		0.383	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			4	63	0	0	0	1	0	4	63				
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-	rs193031527		TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)cagdel	p.Q775del	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	775					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626																																						ENST00000366835.3																			1	Deletion - In frame(1)	p.Q775delQ(1)	breast(1)	breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(2323-2325)del		transmembrane protein 63A																																				SO:0001651	inframe_deletion	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226034840_226034842delCTG		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2323_2325delCAG	1.37:g.226034849_226034851delCTG	ENSP00000355800:p.Gln775del						p.Q775del	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			24	2593_2595	-	Breast(184;0.197)		775					Q53GI7|Q5TE96|Q8N2U2	In_Frame_Del	DEL	ENST00000366835.3	37	c.2323_2325delCAG	CCDS31042.1																																																																																				0.626	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		7	126						7	126	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195703972	195703973	+	RNA	DEL	AG	AG	-			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr3:195703972_195703973delAG	ENST00000427841.1	-	0	1171_1172					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GCGGATCTCCAGAGTCATCCAC	0.574																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195703972_195703973delAG	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195703974_195703975delAG								NR_003264.2						0	1171_1172	-									RNA	DEL	ENST00000427841.1	37																																																																																						0.574	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	5						4	5	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			643180							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			2	4						2	4	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93540315	93540316	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr15:93540315_93540316insA	ENST00000394196.4	+	29	4792_4793	c.3724_3725insA	c.(3724-3726)gaafs	p.E1242fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.E1242fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1242					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACCCTGAAGAAAAAAAAAAG	0.347																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(3724-3726)aaafs		chromodomain helicase DNA binding protein 2																																				SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93540315_93540316insA	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3735dupA	15.37:g.93540325_93540325dupA	ENSP00000377747:p.Glu1242fs					CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1242fs	p.K1242fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		29	4792_4793	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1242					C6G482|Q96IP5	Frame_Shift_Ins	INS	ENST00000394196.4	37	c.3724_3725insA	CCDS10374.2																																																																																				0.347	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		8	69						8	69	---	---	---	---
TNFAIP1	7126	broad.mit.edu	37	17	26671480	26671492	+	Frame_Shift_Del	DEL	GCCACAAGCCGTA	GCCACAAGCCGTA	-	rs373733645		TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr17:26671480_26671492delGCCACAAGCCGTA	ENST00000226225.2	+	7	1072_1084	c.805_817delGCCACAAGCCGTA	c.(805-819)gccacaagccgtagcfs	p.ATSRS269fs	TNFAIP1_ENST00000583213.1_3'UTR|TNFAIP1_ENST00000544907.2_Frame_Shift_Del_p.ATSRS165fs|POLDIP2_ENST00000003607.4_5'Flank	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	269					apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CTTGTTGGAGGCCACAAGCCGTAGCCGCAGCCA	0.592																																						ENST00000226225.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12						c.(805-819)gcfs		tumor necrosis factor, alpha-induced protein 1 (endothelial)																																				SO:0001589	frameshift_variant	7126				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr17:26671480_26671492delGCCACAAGCCGTA		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.805_817delGCCACAAGCCGTA	17.37:g.26671480_26671492delGCCACAAGCCGTA	ENSP00000226225:p.Ala269fs					TNFAIP1_ENST00000544907.2_Frame_Shift_Del_p.ATSRS165fs|TNFAIP1_ENST00000583213.1_3'UTR	p.ATSRS269fs	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	7	1072_1084	+	all_lung(13;0.000294)|Lung NSC(42;0.000964)		269					B7Z6M4|Q5TZQ1	Frame_Shift_Del	DEL	ENST00000226225.2	37	c.805_817delGCCACAAGCCGTA	CCDS11227.1																																																																																				0.592	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137		8	21						8	21	---	---	---	---
KRTAP9-9	81870	broad.mit.edu	37	17	39411670	39411671	+	In_Frame_Ins	INS	-	-	ACCTGCTGCAGGACC	rs67700678|rs540633489	byFrequency	TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr17:39411670_39411671insACCTGCTGCAGGACC	ENST00000394008.1	+	1	35_36	c.33_34insACCTGCTGCAGGACC	c.(34-36)acc>ACCTGCTGCAGGACCacc	p.12_12T>TCCRTT		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	12	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGTCAGCCTACCTGCTGCAG	0.604														2488	0.496805	0.298	0.647	5008	,	,		16406	0.4196		0.5805	False		,,,				2504	0.6524					ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(31-36)cccctg>ccACCTGCTGCAGGACCcctg		keratin associated protein 9-9																																				SO:0001652	inframe_insertion	81870					keratin filament		g.chr17:39411670_39411671insACCTGCTGCAGGACC	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.34_48dupACCTGCTGCAGGACC	17.37:g.39411670_39411671insACCTGCTGCAGGACC	Exception_encountered						p.10_11insPPAAG	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	35_36	+		Breast(137;0.000496)	10					B5MDD6|Q9BYQ1	In_Frame_Ins	INS	ENST00000394008.1	37	c.33_34insACCTGCTGCAGGACC	CCDS54127.1																																																																																				0.604	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		7	30						7	30	---	---	---	---
PPM1E	22843	broad.mit.edu	37	17	56833457	56833458	+	In_Frame_Ins	INS	-	-	GAACCC	rs3834568|rs201186780|rs74256772	byFrequency	TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr17:56833457_56833458insGAACCC	ENST00000308249.2	+	1	228_229	c.99_100insGAACCC	c.(100-102)gaa>GAACCCgaa	p.34_34E>EPE		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaacc	0.673														1948	0.388978	0.4493	0.2896	5008	,	,		9152	0.3323		0.4036	False		,,,				2504	0.4213					ENST00000308249.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(97-102)ccaacc>ccGAACCCaacc		protein phosphatase, Mg2+/Mn2+ dependent, 1E																																				SO:0001652	inframe_insertion	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:56833457_56833458insGAACCC	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.124_129dupGAACCC	17.37:g.56833458_56833463dupGAACCC	ENSP00000312411:p.ProGlu44dup						p.32_33insPN	NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		1	228_229	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		32			11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich.		Q8N8J9|Q96DB8	In_Frame_Ins	INS	ENST00000308249.2	37	c.99_100insGAACCC	CCDS11613.1																																																																																				0.673	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		6	4						6	4	---	---	---	---
