#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
MST1L	11223	broad.mit.edu	37	1	17083685	17083685	+	RNA	SNP	C	C	A	rs3197973	byFrequency	TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr1:17083685C>A	ENST00000455405.2	-	0	903							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										ACTGTACTTACAAGTTTTGTC	0.403																																						ENST00000455405.2																			0																																																			11223							g.chr1:17083685C>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083685C>A														0	903	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.403	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		4	12	1	0	0.27861	1	0.27861	4	12				
ERICH6	131831	broad.mit.edu	37	3	150377880	150377880	+	Silent	SNP	C	C	T			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr3:150377880C>T	ENST00000295910.6	-	14	1843	c.1791G>A	c.(1789-1791)ctG>ctA	p.L597L	FAM194A_ENST00000491361.1_Silent_p.L451L	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTAAACTGGCCAGCAGAAGAA	0.438																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1789-1791)ctG>ctA		family with sequence similarity 194, member A							110.0	114.0	113.0					3																	150377880		2203	4300	6503	SO:0001819	synonymous_variant	131831							g.chr3:150377880C>T																												ENST00000295910.6:c.1791G>A	3.37:g.150377880C>T						FAM194A_ENST00000491361.1_Silent_p.L451L	p.L597L	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			14	1843	-			597						Silent	SNP	ENST00000295910.6	37	c.1791G>A	CCDS3151.2																																																																																				0.438	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			22	66	0	0	0	1	0	22	66				
AFAP1L1	134265	broad.mit.edu	37	5	148679174	148679174	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr5:148679174T>C	ENST00000296721.4	+	2	217	c.119T>C	c.(118-120)aTc>aCc	p.I40T	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.I40T|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	40						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCCTCCATCCTGCAGAGC	0.602																																						ENST00000296721.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(118-120)aTc>aCc		actin filament associated protein 1-like 1							70.0	68.0	69.0					5																	148679174		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148679174T>C	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.119T>C	5.37:g.148679174T>C	ENSP00000296721:p.Ile40Thr					AFAP1L1_ENST00000515000.1_Missense_Mutation_p.I40T|AFAP1L1_ENST00000522492.1_3'UTR	p.I40T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	217	+			40					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.119T>C	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.702353	0.68501	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.45276	0.9;0.9	4.78	4.78	0.61160	.	0.177079	0.48767	D	0.000167	T	0.50240	0.1604	M	0.65498	2.005	0.45390	D	0.998371	P;P;P	0.42692	0.561;0.747;0.787	P;B;P	0.46362	0.514;0.399;0.447	T	0.57476	-0.7805	10	0.87932	D	0	-16.1933	14.7627	0.69617	0.0:0.0:0.0:1.0	.	40;40;40	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	T	40	ENSP00000296721:I40T;ENSP00000424427:I40T	ENSP00000296721:I40T	I	+	2	0	AFAP1L1	148659367	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.144000	0.77357	2.127000	0.65507	0.533000	0.62120	ATC		0.602	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		6	42	0	0	0	1	0	6	42				
GAS2L2	246176	broad.mit.edu	37	17	34072885	34072885	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr17:34072885T>C	ENST00000254466.6	-	6	1658	c.1631A>G	c.(1630-1632)gAc>gGc	p.D544G	GAS2L2_ENST00000587565.1_Missense_Mutation_p.D528G	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	544					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCAGCCAGGTCCACAGTGAC	0.617																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1630-1632)gAc>gGc		growth arrest-specific 2 like 2							48.0	47.0	48.0					17																	34072885		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072885T>C	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1631A>G	17.37:g.34072885T>C	ENSP00000254466:p.Asp544Gly					GAS2L2_ENST00000587565.1_Missense_Mutation_p.D528G	p.D544G	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1658	-		Ovarian(249;0.17)	544					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1631A>G	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809551	0.31961	.	.	ENSG00000132139	ENST00000254466	T	0.19105	2.17	5.19	2.87	0.33458	.	0.604000	0.15371	N	0.265876	T	0.13030	0.0316	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.25641	-1.0126	10	0.32370	T	0.25	-4.5766	6.4032	0.21650	0.0:0.3139:0.0:0.6861	.	544	Q8NHY3	GA2L2_HUMAN	G	544	ENSP00000254466:D544G	ENSP00000254466:D544G	D	-	2	0	GAS2L2	31096998	0.000000	0.05858	0.003000	0.11579	0.060000	0.15804	-0.262000	0.08682	0.409000	0.25649	0.533000	0.62120	GAC		0.617	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		3	27	0	0	0	1	0	3	27				
GMPR	2766	broad.mit.edu	37	6	16274725	16274725	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr6:16274725C>T	ENST00000259727.4	+	5	659	c.545C>T	c.(544-546)cCa>cTa	p.P182L		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	182					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GGAGTTGGACCAGGTAAGACT	0.512																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(544-546)cCa>cTa		guanosine monophosphate reductase							132.0	127.0	129.0					6																	16274725		2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16274725C>T		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.545C>T	6.37:g.16274725C>T	ENSP00000259727:p.Pro182Leu						p.P182L	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			5	659	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	182					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.545C>T	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369020	0.95900	.	.	ENSG00000137198	ENST00000259727	D	0.82619	-1.63	5.91	5.91	0.95273	Aldolase-type TIM barrel (1);IMP dehydrogenase / GMP reductase, conserved site (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	H	0.99732	4.735	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97487	1.0051	10	0.87932	D	0	-1.8425	19.8936	0.96942	0.0:1.0:0.0:0.0	.	182	P36959	GMPR1_HUMAN	L	182	ENSP00000259727:P182L	ENSP00000259727:P182L	P	+	2	0	GMPR	16382704	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.301000	0.78850	2.793000	0.96121	0.655000	0.94253	CCA		0.512	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			7	39	0	0	0	1	0	7	39				
ABCB5	340273	broad.mit.edu	37	7	20698192	20698192	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr7:20698192G>A	ENST00000404938.2	+	14	2252	c.1600G>A	c.(1600-1602)Gca>Aca	p.A534T	ABCB5_ENST00000443026.2_Missense_Mutation_p.A89T|ABCB5_ENST00000406935.1_Missense_Mutation_p.A89T|ABCB5_ENST00000258738.6_Missense_Mutation_p.A89T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	534	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ACAGAGGATCGCAATTGCTCG	0.433																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(1600-1602)Gca>Aca		ATP-binding cassette, sub-family B (MDR/TAP), member 5							132.0	115.0	121.0					7																	20698192		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20698192G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1600G>A	7.37:g.20698192G>A	ENSP00000384881:p.Ala534Thr					ABCB5_ENST00000258738.6_Missense_Mutation_p.A89T|ABCB5_ENST00000443026.2_Missense_Mutation_p.A89T|ABCB5_ENST00000406935.1_Missense_Mutation_p.A89T	p.A534T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			14	2252	+			89			ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.1600G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087543	0.94100	.	.	ENSG00000004846	ENST00000404938;ENST00000443026;ENST00000406935;ENST00000258738	D;D;D;D	0.94576	-1.94;-3.46;-3.46;-1.94	5.77	5.77	0.91146	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000011	D	0.97405	0.9151	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;1.0	D	0.97524	1.0075	10	0.87932	D	0	.	19.335	0.94312	0.0:0.0:1.0:0.0	.	89;534;89;89	B5MD19;A7BKA4;Q2M3G0;Q2M3G0-2	.;.;ABCB5_HUMAN;.	T	534;89;89;89	ENSP00000384881:A534T;ENSP00000406730:A89T;ENSP00000383899:A89T;ENSP00000258738:A89T	ENSP00000258738:A89T	A	+	1	0	ABCB5	20664717	1.000000	0.71417	0.872000	0.34217	0.592000	0.36648	7.786000	0.85741	2.890000	0.99128	0.650000	0.86243	GCA		0.433	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		10	34	0	0	0	1	0	10	34				
SAMD9L	219285	broad.mit.edu	37	7	92763379	92763379	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr7:92763379G>A	ENST00000318238.4	-	5	3122	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	SAMD9L_ENST00000411955.1_Missense_Mutation_p.P636S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.P636S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	636					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCACGGGCGGGCAAAAACCTT	0.398																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1906-1908)Ccc>Tcc		sterile alpha motif domain containing 9-like							85.0	87.0	87.0					7																	92763379		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92763379G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1906C>T	7.37:g.92763379G>A	ENSP00000326247:p.Pro636Ser					SAMD9L_ENST00000437805.1_Missense_Mutation_p.P636S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P636S	p.P636S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3122	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		636					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1906C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582453	0.65992	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.38887	1.11;1.11;1.11	4.86	3.98	0.46160	.	0.076822	0.50627	N	0.000101	T	0.54902	0.1887	M	0.69823	2.125	0.46701	D	0.999167	D	0.67145	0.996	P	0.54924	0.764	T	0.61598	-0.7030	10	0.87932	D	0	-4.6903	12.8163	0.57667	0.0802:0.0:0.9198:0.0	.	636	Q8IVG5	SAM9L_HUMAN	S	636	ENSP00000326247:P636S;ENSP00000405760:P636S;ENSP00000408796:P636S	ENSP00000326247:P636S	P	-	1	0	SAMD9L	92601315	1.000000	0.71417	0.992000	0.48379	0.755000	0.42902	5.258000	0.65479	1.266000	0.44231	0.467000	0.42956	CCC		0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		4	121	0	0	0	1	0	4	121				
BCOR	54880	broad.mit.edu	37	X	39911406	39911406	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chrX:39911406C>G	ENST00000378444.4	-	15	5452	c.5224G>C	c.(5224-5226)Gag>Cag	p.E1742Q	BCOR_ENST00000342274.4_Missense_Mutation_p.E1708Q|BCOR_ENST00000397354.3_Missense_Mutation_p.E1708Q|BCOR_ENST00000378455.4_Missense_Mutation_p.E1690Q|BCOR_ENST00000378463.1_Missense_Mutation_p.E585Q	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1742	Necessary and sufficient for interaction with PCGF1.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGAGCCACTCTACAGAGGAG	0.493			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(5122-5124)Gag>Cag		BCL6 corepressor							42.0	33.0	36.0					X																	39911406		2202	4299	6501	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39911406C>G	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.5224G>C	X.37:g.39911406C>G	ENSP00000367705:p.Glu1742Gln					BCOR_ENST00000378455.4_Missense_Mutation_p.E1690Q|BCOR_ENST00000397354.3_Missense_Mutation_p.E1708Q|BCOR_ENST00000378444.4_Missense_Mutation_p.E1742Q|BCOR_ENST00000378463.1_Missense_Mutation_p.E585Q	p.E1708Q	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			15	5484	-			1742					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.5122G>C	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056059	0.55325	.	.	ENSG00000183337	ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274	T;T;T;T;T	0.51817	0.69;0.81;0.79;0.75;0.79	5.83	5.83	0.93111	.	.	.	.	.	T	0.61048	0.2316	L	0.49126	1.545	0.46376	D	0.999018	D;P;D	0.65815	0.995;0.952;0.985	P;P;P	0.61397	0.888;0.678;0.888	T	0.63278	-0.6673	9	0.87932	D	0	-24.6141	15.4856	0.75564	0.0:0.8556:0.1444:0.0	.	1690;1742;1708	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	Q	585;1690;1708;1742;1708	ENSP00000367724:E585Q;ENSP00000367716:E1690Q;ENSP00000380512:E1708Q;ENSP00000367705:E1742Q;ENSP00000345923:E1708Q	ENSP00000345923:E1708Q	E	-	1	0	BCOR	39796350	1.000000	0.71417	0.964000	0.40570	0.718000	0.41266	5.546000	0.67243	2.464000	0.83262	0.594000	0.82650	GAG		0.493	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		3	26	0	0	0	1	0	3	26				
CROCCP2	84809	broad.mit.edu	37	1	16956575	16956575	+	lincRNA	SNP	G	G	A			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr1:16956575G>A	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCTCGCTGTCGCTAAGCTGCT	0.647																																						ENST00000412962.1																			0																																																			84809							g.chr1:16956575G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956575G>A														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.647	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	30	0	0	0	1	0	3	30				
BZRAP1	9256	broad.mit.edu	37	17	56386005	56386005	+	Missense_Mutation	SNP	T	T	C	rs369628618		TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr17:56386005T>C	ENST00000343736.4	-	22	4791	c.4628A>G	c.(4627-4629)aAt>aGt	p.N1543S	BZRAP1_ENST00000355701.3_Missense_Mutation_p.N1543S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.N1483S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1543						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGCCTGAATTGGCCTTCGG	0.677																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(4627-4629)aAt>aGt		benzodiazapine receptor (peripheral) associated protein 1		T	SER/ASN,SER/ASN	1,4405		0,1,2202	29.0	31.0	30.0		4448,4628	-1.5	0.5	17		30	0,8598		0,0,4299	no	missense,missense	BZRAP1	NM_024418.1,NM_004758.2	46,46	0,1,6501	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	1483/1798,1543/1858	56386005	1,13003	2203	4299	6502	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56386005T>C	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4628A>G	17.37:g.56386005T>C	ENSP00000345824:p.Asn1543Ser					BZRAP1_ENST00000343736.4_Missense_Mutation_p.N1543S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.N1483S	p.N1543S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			22	5498	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1543					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.4628A>G	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	T	4.073	0.011482	0.07912	2.27E-4	0.0	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04275	3.66;3.66;3.67	5.26	-1.46	0.08800	.	1.110590	0.06523	N	0.739955	T	0.02304	0.0071	N	0.12746	0.255	0.09310	N	1	B;B;B	0.16166	0.001;0.016;0.008	B;B;B	0.14023	0.001;0.01;0.005	T	0.46992	-0.9151	10	0.08837	T	0.75	.	3.2281	0.06739	0.148:0.4746:0.152:0.2254	.	1543;1483;1543	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	S	1543;1543;1483	ENSP00000347929:N1543S;ENSP00000345824:N1543S;ENSP00000268893:N1483S	ENSP00000268893:N1483S	N	-	2	0	BZRAP1	53741004	0.000000	0.05858	0.534000	0.28014	0.714000	0.41099	-1.092000	0.03366	0.034000	0.15491	0.374000	0.22700	AAT		0.677	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		8	14	0	0	0	1	0	8	14				
MTOR	2475	broad.mit.edu	37	1	11169377	11169377	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr1:11169377T>A	ENST00000361445.4	-	56	7574	c.7498A>T	c.(7498-7500)Att>Ttt	p.I2500F	MTOR_ENST00000376838.1_Missense_Mutation_p.I705F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2500	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTGTTAATAATCTGGATAGCT	0.408																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(7498-7500)Att>Ttt		mechanistic target of rapamycin (serine/threonine kinase)							177.0	156.0	163.0					1																	11169377		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11169377T>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7498A>T	1.37:g.11169377T>A	ENSP00000354558:p.Ile2500Phe					MTOR_ENST00000376838.1_Missense_Mutation_p.I705F	p.I2500F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			56	7574	-			2500			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.7498A>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	34	5.335683	0.95758	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.30182	3.07;2.84;1.54	5.82	5.82	0.92795	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.047538	0.85682	D	0.000000	T	0.58921	0.2156	M	0.87328	2.875	0.80722	D	1	D	0.71674	0.998	D	0.64506	0.926	T	0.66650	-0.5870	10	0.87932	D	0	-10.0412	13.9151	0.63893	0.0:0.0:0.0:1.0	.	2500	P42345	MTOR_HUMAN	F	2500;705;156	ENSP00000354558:I2500F;ENSP00000366034:I705F;ENSP00000398745:I156F	ENSP00000354558:I2500F	I	-	1	0	MTOR	11091964	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.466000	0.80914	2.223000	0.72356	0.482000	0.46254	ATT		0.408	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		16	52	0	0	0	1	0	16	52				
ZNF319	57567	broad.mit.edu	37	16	58032116	58032116	+	Silent	SNP	T	T	A			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr16:58032116T>A	ENST00000299237.2	-	2	676	c.54A>T	c.(52-54)ccA>ccT	p.P18P	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	18	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GAGGCTGCGGTGGCTGTGGCT	0.637																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(52-54)ccA>ccT		zinc finger protein 319							49.0	53.0	51.0					16																	58032116		2198	4298	6496	SO:0001819	synonymous_variant	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58032116T>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.54A>T	16.37:g.58032116T>A							p.P18P	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	676	-			18			Pro-rich.		Q52LH8	Silent	SNP	ENST00000299237.2	37	c.54A>T	CCDS32462.1																																																																																				0.637	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			11	44	0	0	0	1	0	11	44				
SMC4	10051	broad.mit.edu	37	3	160142806	160142806	+	Splice_Site	SNP	A	A	G			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr3:160142806A>G	ENST00000357388.3	+	16	2928	c.2477A>G	c.(2476-2478)cAg>cGg	p.Q826R	SMC4_ENST00000462787.1_Splice_Site_p.Q826R|SMC4_ENST00000469762.1_Splice_Site_p.Q801R|SMC4_ENST00000344722.5_Splice_Site_p.Q826R|SMC4_ENST00000360111.2_Splice_Site_p.Q826R|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	826					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCAAGCATCCAGgtatgtgtg	0.363																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.e16+1		structural maintenance of chromosomes 4							53.0	49.0	51.0					3																	160142806		2203	4300	6503	SO:0001630	splice_region_variant	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160142806A>G	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2478+1A>G	3.37:g.160142806A>G						RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Splice_Site_p.Q826_splice|SMC4_ENST00000462787.1_Splice_Site_p.Q826_splice|SMC4_ENST00000469762.1_Splice_Site_p.Q801_splice|SMC4_ENST00000344722.5_Splice_Site_p.Q826_splice	p.Q826_splice	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		16	2928	+			826					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Splice_Site	SNP	ENST00000357388.3	37	c.2478_splice	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412648	0.42817	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.18	5.18	0.71444	RecF/RecN/SMC (1);	0.183375	0.49305	D	0.000145	D	0.85327	0.5671	M	0.77616	2.38	0.58432	D	0.999994	P;B;D;B	0.64830	0.529;0.024;0.994;0.063	B;B;D;B	0.76575	0.228;0.035;0.988;0.063	D	0.84567	0.0653	10	0.32370	T	0.25	-13.5001	15.3102	0.74026	1.0:0.0:0.0:0.0	.	826;801;801;826	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	R	826;826;801;826;826;420	ENSP00000349961:Q826R;ENSP00000353225:Q826R;ENSP00000417964:Q801R;ENSP00000420734:Q826R;ENSP00000341382:Q826R	ENSP00000341382:Q826R	Q	+	2	0	SMC4	161625500	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	5.481000	0.66826	2.071000	0.62044	0.482000	0.46254	CAG		0.363	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		Missense_Mutation	3	16	0	0	0	1	0	3	16				
SCAF8	22828	broad.mit.edu	37	6	155126575	155126575	+	Silent	SNP	A	A	C			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr6:155126575A>C	ENST00000367178.3	+	9	1512	c.936A>C	c.(934-936)ctA>ctC	p.L312L	SCAF8_ENST00000417268.1_Silent_p.L312L|SCAF8_ENST00000367186.4_Silent_p.L378L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	312	Gln-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AGCAAAACCTAGAACATCTCA	0.358																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(934-936)ctA>ctC		SR-related CTD-associated factor 8							80.0	78.0	79.0					6																	155126575		2203	4300	6503	SO:0001819	synonymous_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155126575A>C	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.936A>C	6.37:g.155126575A>C						SCAF8_ENST00000367186.4_Silent_p.L378L|SCAF8_ENST00000417268.1_Silent_p.L312L	p.L312L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			9	1512	+			312			Gln-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	ENST00000367178.3	37	c.936A>C	CCDS5247.1																																																																																				0.358	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		7	69	0	0	0	1	0	7	69				
COL5A3	50509	broad.mit.edu	37	19	10089840	10089840	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr19:10089840G>A	ENST00000264828.3	-	39	2927	c.2842C>T	c.(2842-2844)Ctt>Ttt	p.L948F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	948	Collagen-like 4.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGGCCAGGAAGACCTTGTTCA	0.567																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(2842-2844)Ctt>Ttt		collagen, type V, alpha 3							47.0	47.0	47.0					19																	10089840		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10089840G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2842C>T	19.37:g.10089840G>A	ENSP00000264828:p.Leu948Phe						p.L948F	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		39	2927	-			948			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.2842C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	g	12.87	2.067278	0.36470	.	.	ENSG00000080573	ENST00000264828	D	0.93604	-3.25	3.98	3.98	0.46160	.	0.000000	0.56097	U	0.000030	D	0.95108	0.8415	L	0.56199	1.76	0.41958	D	0.990696	D	0.76494	0.999	D	0.91635	0.999	D	0.94737	0.7915	10	0.44086	T	0.13	.	13.58	0.61896	0.0:0.0:1.0:0.0	.	948	P25940	CO5A3_HUMAN	F	948	ENSP00000264828:L948F	ENSP00000264828:L948F	L	-	1	0	COL5A3	9950840	0.997000	0.39634	0.999000	0.59377	0.702000	0.40608	1.508000	0.35769	1.776000	0.52262	0.298000	0.19748	CTT		0.567	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		8	36	0	0	0	1	0	8	36				
LLPH	84298	broad.mit.edu	37	12	66517700	66517700	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr12:66517700T>C	ENST00000266604.2	-	3	380	c.310A>G	c.(310-312)Agg>Ggg	p.R104G	TMBIM4_ENST00000539652.1_3'UTR|LLPH_ENST00000446587.2_Missense_Mutation_p.R104G	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	104	Lys-rich.						poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						GCCTTCAGCCTTTTTCTTTGC	0.408																																						ENST00000266604.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(310-312)Agg>Ggg		LLP homolog, long-term synaptic facilitation (Aplysia)							191.0	167.0	175.0					12																	66517700		2203	4300	6503	SO:0001583	missense	84298							g.chr12:66517700T>C	AK057947	CCDS8974.1	12q14.3	2014-05-09	2008-10-02	2008-10-02	ENSG00000139233	ENSG00000139233			28229	protein-coding gene	gene with protein product	"""human LAPS18-like protein"""		"""chromosome 12 open reading frame 31"""	C12orf31		12477932	Standard	NM_032338		Approved	MGC14817, hLLP	uc010ssw.2	Q9BRT6	OTTHUMG00000168959	ENST00000266604.2:c.310A>G	12.37:g.66517700T>C	ENSP00000266604:p.Arg104Gly					LLPH_ENST00000446587.2_Missense_Mutation_p.R104G|TMBIM4_ENST00000539652.1_3'UTR	p.R104G	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN			3	380	-			104			Lys-rich.		Q3B766	Missense_Mutation	SNP	ENST00000266604.2	37	c.310A>G	CCDS8974.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754956	0.49362	.	.	ENSG00000139233	ENST00000266604;ENST00000446587	.	.	.	4.49	2.01	0.26516	.	0.142496	0.64402	D	0.000008	T	0.48926	0.1527	M	0.68593	2.085	0.28223	N	0.92644	B	0.20887	0.049	B	0.27887	0.084	T	0.43909	-0.9362	8	.	.	.	-13.6114	10.5959	0.45338	0.0:0.0:0.3087:0.6913	.	104	Q9BRT6	LLPH_HUMAN	G	104	.	.	R	-	1	2	LLPH	64803967	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.237000	0.58681	0.306000	0.22856	0.528000	0.53228	AGG		0.408	LLPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401752.1	NM_032338		5	135	0	0	0	1	0	5	135				
DPEP1	1800	broad.mit.edu	37	16	89702399	89702399	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr16:89702399G>A	ENST00000393092.3	+	3	479	c.188G>A	c.(187-189)gGc>gAc	p.G63D	DPEP1_ENST00000421184.1_Missense_Mutation_p.G63D|DPEP1_ENST00000261615.4_Missense_Mutation_p.G63D	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	63					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	ACCTTGGCCGGCACACACACC	0.637																																						ENST00000393092.3																			0				large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14						c.(187-189)gGc>gAc		dipeptidase 1 (renal)	Cilastatin(DB01597)																																			SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89702399G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.188G>A	16.37:g.89702399G>A	ENSP00000376807:p.Gly63Asp					DPEP1_ENST00000261615.4_Missense_Mutation_p.G63D|DPEP1_ENST00000421184.1_Missense_Mutation_p.G63D	p.G63D	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	3	479	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	63					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.188G>A	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	G	5.767	0.325901	0.10900	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.19394	2.15;2.15;2.15	5.25	-10.5	0.00291	.	1.951450	0.02006	N	0.046636	T	0.11965	0.0291	N	0.17872	0.535	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.06844	-1.0804	10	0.21014	T	0.42	0.1765	12.1777	0.54194	0.2598:0.1635:0.5767:0.0	.	63	P16444	DPEP1_HUMAN	D	63	ENSP00000397313:G63D;ENSP00000376807:G63D;ENSP00000261615:G63D	ENSP00000261615:G63D	G	+	2	0	DPEP1	88229900	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.962000	0.01514	-2.473000	0.00528	-2.110000	0.00354	GGC		0.637	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		3	19	0	0	0	1	0	3	19				
TENM1	10178	broad.mit.edu	37	X	123526098	123526098	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chrX:123526098T>G	ENST00000371130.3	-	27	5534	c.5471A>C	c.(5470-5472)gAc>gCc	p.D1824A	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.D1831A	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1824					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCCAGTCTGGTCATAAAGAAT	0.423																																						ENST00000422452.2																			0											c.(5491-5493)gAc>gCc		teneurin transmembrane protein 1							106.0	96.0	99.0					X																	123526098		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123526098T>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5471A>C	X.37:g.123526098T>G	ENSP00000360171:p.Asp1824Ala					TENM1_ENST00000371130.3_Missense_Mutation_p.D1824A|STAG2_ENST00000469481.1_Intron	p.D1831A	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					28	5555	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.5492A>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094661	0.76870	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90261	-2.64;-2.61	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.95169	0.8434	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.80764	0.994;0.963;0.958	D	0.95565	0.8633	10	0.66056	D	0.02	.	14.7475	0.69499	0.0:0.0:0.0:1.0	.	1830;1831;1824	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	A	1824;1831	ENSP00000360171:D1824A;ENSP00000403954:D1831A	ENSP00000360171:D1824A	D	-	2	0	ODZ1	123353779	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.289000	0.72696	1.863000	0.54032	0.486000	0.48141	GAC		0.423	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		36	54	0	0	0	1	0	36	54				
MYOM1	8736	broad.mit.edu	37	18	3188963	3188963	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr18:3188963G>A	ENST00000356443.4	-	4	887	c.554C>T	c.(553-555)aCg>aTg	p.T185M	MYOM1_ENST00000261606.7_Missense_Mutation_p.T185M|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.T185M	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	185	6 X 6 AA tandem repeats.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTTGGATGCCGTGGACTGTTT	0.507																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(553-555)aCg>aTg		myomesin 1							326.0	301.0	309.0					18																	3188963		2013	4186	6199	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3188963G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.554C>T	18.37:g.3188963G>A	ENSP00000348821:p.Thr185Met					MYOM1_ENST00000261606.7_Missense_Mutation_p.T185M|MYOM1_ENST00000400569.3_Missense_Mutation_p.T185M	p.T185M	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			4	887	-			185			6 X 6 AA tandem repeats.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.554C>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	4.552	0.102493	0.08731	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.52057	0.85;0.86;0.68	3.1	1.26	0.21427	.	.	.	.	.	T	0.24431	0.0592	N	0.08118	0	0.09310	N	1	P;B	0.40660	0.726;0.003	B;B	0.38562	0.276;0.003	T	0.08806	-1.0704	9	0.46703	T	0.11	.	5.3862	0.16220	0.2831:0.0:0.7169:0.0	.	185;185	P52179-2;P52179	.;MYOM1_HUMAN	M	185	ENSP00000348821:T185M;ENSP00000383413:T185M;ENSP00000261606:T185M	ENSP00000261606:T185M	T	-	2	0	MYOM1	3178963	0.003000	0.15002	0.020000	0.16555	0.522000	0.34438	0.006000	0.13152	0.080000	0.16959	-0.592000	0.04112	ACG		0.507	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		4	73	0	0	0	1	0	4	73				
HSPG2	3339	broad.mit.edu	37	1	22199255	22199255	+	Splice_Site	DEL	T	T	-			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr1:22199255delT	ENST00000374695.3	-	32	3968		c.e32-2			NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CACCTGGGCCTGGGTAGACGG	0.682																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.e32-2		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						28.0	34.0	32.0					1																	22199255		2202	4298	6500	SO:0001630	splice_region_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22199255delT	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3889-2A>-	1.37:g.22199255delT								NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	32	3968	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)						Q16287|Q5SZI3|Q9H3V5	Splice_Site	DEL	ENST00000374695.3	37		CCDS30625.1																																																																																				0.682	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	Intron	2	4						2	4	---	---	---	---
FER1L5	90342	broad.mit.edu	37	2	97361186	97361186	+	RNA	DEL	G	G	-			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr2:97361186delG	ENST00000457909.1	+	0	3185							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TCTCTGGCCAGGACCCCATTA	0.632																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)																																						90342					integral to membrane		g.chr2:97361186delG	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97361186delG										A0AVI2	FR1L5_HUMAN			0	3185	+								Q17RH2|Q6ZU24	RNA	DEL	ENST00000457909.1	37																																																																																						0.632	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		2	4						2	4	---	---	---	---
AC073321.4	0	broad.mit.edu	37	2	217475031	217475032	+	lincRNA	INS	-	-	AA	rs71401156|rs59472818	byFrequency	TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr2:217475031_217475032insAA	ENST00000441803.1	+	0	195																											AATTTTATTTCAAAAAAAAAAA	0.376																																						ENST00000441803.1																			0																																																			0							g.chr2:217475031_217475032insAA																													2.37:g.217475040_217475041dupAA														0	195	+									RNA	INS	ENST00000441803.1	37																																																																																						0.376	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			4	5						4	5	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			9	37						9	37	---	---	---	---
