#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
KIAA1755	85449	broad.mit.edu	37	20	36869018	36869018	+	Silent	SNP	A	A	G			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr20:36869018A>G	ENST00000279024.4	-	3	1786	c.1515T>C	c.(1513-1515)tcT>tcC	p.S505S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	505										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGGGTTTAGGAGAGTAGAGGG	0.507																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(1513-1515)tcT>tcC		KIAA1755							133.0	129.0	130.0					20																	36869018		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36869018A>G	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1515T>C	20.37:g.36869018A>G							p.S505S	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	1786	-		Myeloproliferative disorder(115;0.00874)	505					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.1515T>C	CCDS33467.1																																																																																				0.507	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		5	88	0	0	0	1	0	5	88				
NBEA	26960	broad.mit.edu	37	13	35644944	35644944	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr13:35644944T>C	ENST00000400445.3	+	10	2060	c.1526T>C	c.(1525-1527)tTg>tCg	p.L509S	NBEA_ENST00000540320.1_Missense_Mutation_p.L509S|NBEA_ENST00000379939.2_Missense_Mutation_p.L509S|NBEA_ENST00000310336.4_Missense_Mutation_p.L509S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	509					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTGCCCAATTGGATAATAGG	0.363																																						ENST00000400445.3																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(1525-1527)tTg>tCg		neurobeachin							126.0	121.0	122.0					13																	35644944		2203	4300	6503	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35644944T>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1526T>C	13.37:g.35644944T>C	ENSP00000383295:p.Leu509Ser					NBEA_ENST00000310336.4_Missense_Mutation_p.L509S|NBEA_ENST00000540320.1_Missense_Mutation_p.L509S|NBEA_ENST00000379939.2_Missense_Mutation_p.L509S	p.L509S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	10	2060	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	509					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.1526T>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.536301	0.85812	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.23	5.23	0.72850	.	0.089806	0.46758	D	0.000276	D	0.86306	0.5901	M	0.81802	2.56	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.87258	0.2277	10	0.49607	T	0.09	.	15.4227	0.75025	0.0:0.0:0.0:1.0	.	509	Q5T321	.	S	509	ENSP00000440951:L509S;ENSP00000383295:L509S;ENSP00000369271:L509S;ENSP00000308534:L509S	ENSP00000308534:L509S	L	+	2	0	NBEA	34542944	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.795000	0.85887	2.118000	0.64928	0.254000	0.18369	TTG		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		11	58	0	0	0	1	0	11	58				
LRRC37BP1	147172	broad.mit.edu	37	17	28960263	28960263	+	RNA	SNP	C	C	T			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr17:28960263C>T	ENST00000417404.1	+	0	1124									leucine rich repeat containing 37B pseudogene 1																		AAGCTCATGTCGCGAACAGGC	0.443																																						ENST00000417404.1																			0																																																			147172							g.chr17:28960263C>T	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28960263C>T						SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA								0	1124	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.443	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		3	46	0	0	0	1	0	3	46				
TSPAN13	27075	broad.mit.edu	37	7	16818665	16818665	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr7:16818665C>T	ENST00000262067.4	+	5	897	c.464C>T	c.(463-465)gCt>gTt	p.A155V	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	155						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		TCGCCATGTGCTCCAATCATA	0.358																																						ENST00000262067.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7						c.(463-465)gCt>gTt		tetraspanin 13							155.0	147.0	149.0					7																	16818665		2203	4300	6503	SO:0001583	missense	27075					integral to plasma membrane|membrane fraction		g.chr7:16818665C>T	AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"""Tetraspanins"""	21643	protein-coding gene	gene with protein product		613139	"""transmembrane 4 superfamily member 13"""	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.464C>T	7.37:g.16818665C>T	ENSP00000262067:p.Ala155Val					TSPAN13_ENST00000466195.1_3'UTR	p.A155V	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.188)	5	897	+	Lung NSC(10;0.0494)|all_lung(11;0.109)		155						Missense_Mutation	SNP	ENST00000262067.4	37	c.464C>T	CCDS5363.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877279	0.51801	.	.	ENSG00000106537	ENST00000262067	T	0.78595	-1.19	5.75	4.87	0.63330	.	0.100778	0.64402	D	0.000002	T	0.80237	0.4586	L	0.57536	1.79	0.48511	D	0.999664	P	0.42078	0.77	P	0.50270	0.636	T	0.76176	-0.3055	10	0.17369	T	0.5	-16.0514	14.9314	0.70916	0.0:0.9313:0.0:0.0687	.	155	O95857	TSN13_HUMAN	V	155	ENSP00000262067:A155V	ENSP00000262067:A155V	A	+	2	0	TSPAN13	16785190	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	5.409000	0.66374	1.431000	0.47355	0.561000	0.74099	GCT		0.358	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250178.2	NM_014399		17	58	0	0	0	1	0	17	58				
DHRS4	10901	broad.mit.edu	37	14	24424420	24424420	+	Splice_Site	SNP	C	C	T	rs537144117	byFrequency	TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000543741.2_Splice_Site_p.T102M|DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													.|||	14	0.00279553	0.0008	0.0	5008	,	,		13962	0.003		0.004	False		,,,				2504	0.0061					ENST00000313250.5																			4	Substitution - Missense(4)	p.T102M(4)	central_nervous_system(2)|lung(1)|kidney(1)	central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e2+1		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)																																			SO:0001630	splice_region_variant	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24424420C>T	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.306+1C>T	14.37:g.24424420C>T						DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice	p.T102_splice	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	508	+			102	T -> M (in Ref. 1; AAD02292).				B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Splice_Site	SNP	ENST00000313250.5	37	c.306_splice	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797295	0.16327	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.78	0.837	0.18896	NAD(P)-binding domain (1);	0.264094	0.42294	N	0.000732	D	0.83839	0.5341	M	0.77712	2.385	0.36055	D	0.841007	P;B;B;B;B;B	0.45011	0.848;0.001;0.002;0.065;0.05;0.035	B;B;B;B;B;B	0.34180	0.177;0.002;0.001;0.016;0.064;0.044	T	0.80294	-0.1443	10	0.37606	T	0.19	.	7.6245	0.28204	0.0:0.6987:0.0:0.3013	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	M	102;84;84;84;84;102;102;102	ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M	ENSP00000311993:T84M	T	+	2	0	DHRS4	23494260	0.410000	0.25376	0.968000	0.41197	0.539000	0.34962	-0.130000	0.10498	-0.015000	0.14150	0.479000	0.44913	ACG		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3		Missense_Mutation	3	17	0	0	0	1	0	3	17				
RAD51AP2	729475	broad.mit.edu	37	2	17696549	17696549	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr2:17696549T>C	ENST00000399080.2	-	1	3157	c.3134A>G	c.(3133-3135)cAa>cGa	p.Q1045R		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1045										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAATAAACTTTGGTGACTTTT	0.358																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3133-3135)cAa>cGa		RAD51 associated protein 2							126.0	115.0	118.0					2																	17696549		1825	4085	5910	SO:0001583	missense	729475							g.chr2:17696549T>C	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.3134A>G	2.37:g.17696549T>C	ENSP00000382030:p.Gln1045Arg						p.Q1045R	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	3157	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		1045						Missense_Mutation	SNP	ENST00000399080.2	37	c.3134A>G	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896375	0.72639	.	.	ENSG00000214842	ENST00000399080	T	0.37915	1.17	5.3	5.3	0.74995	.	.	.	.	.	T	0.49762	0.1576	L	0.32530	0.975	0.29777	N	0.834311	D	0.76494	0.999	D	0.72075	0.976	T	0.51020	-0.8758	9	0.87932	D	0	-5.417	14.711	0.69232	0.0:0.0:0.0:1.0	.	1045	Q09MP3	R51A2_HUMAN	R	1045	ENSP00000382030:Q1045R	ENSP00000382030:Q1045R	Q	-	2	0	RAD51AP2	17560030	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	3.896000	0.56266	2.133000	0.65898	0.533000	0.62120	CAA		0.358	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		4	60	0	0	0	1	0	4	60				
NBPF10	100132406	broad.mit.edu	37	1	145296418	145296418	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr1:145296418C>T	ENST00000342960.5	+	3	375	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	114						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGAGAAGTTACGGGAAGGGAG	0.522																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(340-342)Cgg>Tgg		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296418C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.340C>T	1.37:g.145296418C>T	ENSP00000345684:p.Arg114Trp					NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron	p.R114W	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	375	+	all_hematologic(923;0.032)		114					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.340C>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	6.556	0.470945	0.12461	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.04083	3.71	1.15	0.109	0.14578	.	.	.	.	.	T	0.04227	0.0117	M	0.77820	2.39	0.09310	N	1	.	.	.	.	.	.	T	0.29822	-0.9999	7	0.87932	D	0	.	5.127	0.14890	0.0:0.6223:0.3777:0.0	.	.	.	.	W	114;39;114	ENSP00000345684:R114W	ENSP00000345684:R114W	R	+	1	2	NBPF10	144007775	0.010000	0.17322	0.001000	0.08648	0.044000	0.14063	-1.193000	0.03049	0.058000	0.16222	0.121000	0.15741	CGG		0.522	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	324	0	0	0	1	0	5	324				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	119	0	0	0	1	0	5	119				
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					ENST00000565869.1																			0																																																			645752							g.chr15:78208916C>G																													15.37:g.78208916C>G														0	53	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	56	0	0	0	1	0	4	56				
HSPA1L	3305	broad.mit.edu	37	6	31779583	31779583	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr6:31779583G>A	ENST00000375654.4	-	2	356	c.167C>T	c.(166-168)gCg>gTg	p.A56V	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A56V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	56					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTTCTTGGCCGCATCCCCAAT	0.532																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(166-168)gCg>gTg		heat shock 70kDa protein 1-like							123.0	110.0	114.0					6																	31779583		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31779583G>A	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.167C>T	6.37:g.31779583G>A	ENSP00000364805:p.Ala56Val					HSPA1L_ENST00000417199.3_Missense_Mutation_p.A56V	p.A56V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	356	-			56					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.167C>T	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	8.636	0.894753	0.17613	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01084	5.36;5.36	4.52	3.65	0.41850	.	.	.	.	.	T	0.01156	0.0038	M	0.86864	2.845	0.80722	D	1	B	0.19935	0.04	B	0.15870	0.014	T	0.23691	-1.0181	9	0.87932	D	0	.	10.2878	0.43577	0.0971:0.0:0.9029:0.0	.	56	P34931	HS71L_HUMAN	V	56	ENSP00000364805:A56V;ENSP00000387691:A56V	ENSP00000364804:A56V	A	-	2	0	HSPA1L	31887562	1.000000	0.71417	0.307000	0.25127	0.017000	0.09413	7.815000	0.86186	1.106000	0.41623	-0.384000	0.06662	GCG		0.532	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			4	115	0	0	0	1	0	4	115				
NOMO1	23420	broad.mit.edu	37	16	14972620	14972620	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr16:14972620T>C	ENST00000287667.7	+	23	2857	c.2686T>C	c.(2686-2688)Tcc>Ccc	p.S896P		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	896						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AGTCCTCTTATCCCTGAGCGG	0.498																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(2686-2688)Tcc>Ccc		NODAL modulator 1							190.0	193.0	192.0					16																	14972620		2197	4300	6497	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14972620T>C	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2686T>C	16.37:g.14972620T>C	ENSP00000287667:p.Ser896Pro						p.S896P	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			23	2857	+			896					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.2686T>C	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	15.91	2.973037	0.53614	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.08458	3.09	3.19	3.19	0.36642	Carbohydrate-binding-like fold (1);	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.04509	-1.0946	10	0.66056	D	0.02	-21.5814	9.7805	0.40645	0.0:0.0:0.0:1.0	.	896	Q15155	NOMO1_HUMAN	P	896;896;729	ENSP00000287667:S896P	ENSP00000287667:S896P	S	+	1	0	NOMO1	14880121	1.000000	0.71417	0.996000	0.52242	0.407000	0.30961	7.650000	0.83521	1.457000	0.47850	0.327000	0.21459	TCC		0.498	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			16	160	0	0	0	1	0	16	160				
CDH11	1009	broad.mit.edu	37	16	65038741	65038741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr16:65038741delA	ENST00000268603.4	-	3	647	c.32delT	c.(31-33)ctgfs	p.L11fs	CDH11_ENST00000394156.3_Frame_Shift_Del_p.L11fs|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	11					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAGGCACACCAGGGCGGCTTG	0.597			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(31-33)cgfs		cadherin 11, type 2, OB-cadherin (osteoblast)							22.0	28.0	26.0					16																	65038741		2190	4293	6483	SO:0001589	frameshift_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65038741delA	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.32delT	16.37:g.65038741delA	ENSP00000268603:p.Leu11fs	TSP Lung(24;0.17)				CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron|CDH11_ENST00000268603.4_Frame_Shift_Del_p.L11fs	p.L11fs			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	3	485	-		Ovarian(137;0.0973)	11					A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Frame_Shift_Del	DEL	ENST00000268603.4	37	c.32delT	CCDS10803.1																																																																																				0.597	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		2	4						2	4	---	---	---	---
