#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
LINC00969	440993	broad.mit.edu	37	3	195410640	195410640	+	lincRNA	SNP	T	T	C	rs6583273	byFrequency	TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr3:195410640T>C	ENST00000445430.1	+	0	1837									long intergenic non-protein coding RNA 969																		TTGATGAGTATGATCACTCCA	0.468																																						ENST00000445430.1																			0																																																			0							g.chr3:195410640T>C	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410640T>C														0	1837	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.468	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	21	0	0	0	1	0	3	21				
NID1	4811	broad.mit.edu	37	1	236157113	236157113	+	Missense_Mutation	SNP	T	T	C	rs146903405	byFrequency	TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr1:236157113T>C	ENST00000264187.6	-	13	2669	c.2587A>G	c.(2587-2589)Aca>Gca	p.T863A	NID1_ENST00000366595.3_Missense_Mutation_p.T730A	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	863	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TGTGGGTCTGTCGCCCCCGCT	0.632													C|||	2	0.000399361	0.0	0.0	5008	,	,		15923	0.0		0.002	False		,,,				2504	0.0					ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2587-2589)Aca>Gca		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)	C	ALA/THR	1,4405	820.1+/-416.4	0,1,2202	36.0	38.0	37.0		2587	-0.9	0.0	1	dbSNP_134	37	17,8583	813.9+/-407.0	0,17,4283	yes	missense	NID1	NM_002508.2	58	0,18,6485	CC,CT,TT		0.1977,0.0227,0.1384	benign	863/1248	236157113	18,12988	2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236157113T>C	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2587A>G	1.37:g.236157113T>C	ENSP00000264187:p.Thr863Ala					NID1_ENST00000366595.3_Missense_Mutation_p.T730A	p.T863A	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		13	2669	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	863			Thyroglobulin type-1.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.2587A>G	CCDS1608.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	5.066	0.197760	0.09652	2.27E-4	0.001977	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.62498	0.02;0.02	4.88	-0.891	0.10573	Thyroglobulin type-1 (3);	1.317470	0.04934	N	0.457419	T	0.44767	0.1309	N	0.21448	0.665	0.09310	N	1	B;B	0.20164	0.042;0.0	B;B	0.19391	0.025;0.002	T	0.19877	-1.0292	10	0.19147	T	0.46	.	6.5024	0.22176	0.0:0.3777:0.1274:0.4949	.	730;863	P14543-2;P14543	.;NID1_HUMAN	A	863;730	ENSP00000264187:T863A;ENSP00000355554:T730A	ENSP00000264187:T863A	T	-	1	0	NID1	234223736	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.217000	0.17603	-0.102000	0.12197	-0.374000	0.07098	ACA		0.632	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		5	42	0	0	0	1	0	5	42				
FBXW10	10517	broad.mit.edu	37	17	18647965	18647965	+	Silent	SNP	T	T	C	rs145973790	byFrequency	TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr17:18647965T>C	ENST00000395665.4	+	1	629	c.408T>C	c.(406-408)taT>taC	p.Y136Y	FBXW10_ENST00000395667.1_Silent_p.Y136Y|FBXW10_ENST00000308799.4_Silent_p.Y136Y|FBXW10_ENST00000301938.4_Silent_p.Y136Y			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	136										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AGGCGAATTATACTCTCTTAC	0.443																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(406-408)taT>taC		F-box and WD repeat domain containing 10		T		1,4405	2.1+/-5.4	0,1,2202	106.0	106.0	106.0		408	-1.6	0.1	17	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FBXW10	NM_031456.3		0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154		136/1052	18647965	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10517							g.chr17:18647965T>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.408T>C	17.37:g.18647965T>C						FBXW10_ENST00000395667.1_Silent_p.Y136Y|FBXW10_ENST00000395665.4_Silent_p.Y136Y|FBXW10_ENST00000301938.4_Silent_p.Y136Y	p.Y136Y			Q5XX13	FBW10_HUMAN			1	627	+			136					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Silent	SNP	ENST00000395665.4	37	c.408T>C	CCDS11199.3																																																																																				0.443	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		7	83	0	0	0	1	0	7	83				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	59	0	0	0	1	0	5	59				
MIER2	54531	broad.mit.edu	37	19	334487	334487	+	Silent	SNP	C	C	T			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr19:334487C>T	ENST00000264819.4	-	3	166	c.156G>A	c.(154-156)caG>caA	p.Q52Q	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	52					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTGTAGTTCTGTGACAGGA	0.597																																						ENST00000264819.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(154-156)caG>caA		mesoderm induction early response 1, family member 2							131.0	112.0	118.0					19																	334487		2203	4300	6503	SO:0001819	synonymous_variant	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:334487C>T	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.156G>A	19.37:g.334487C>T						MIER2_ENST00000592722.1_5'UTR	p.Q52Q	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	166	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	52					Q9ULM7	Silent	SNP	ENST00000264819.4	37	c.156G>A	CCDS32855.1																																																																																				0.597	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		21	86	0	0	0	1	0	21	86				
MYH13	8735	broad.mit.edu	37	17	10265497	10265497	+	Missense_Mutation	SNP	C	C	T	rs202246911		TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr17:10265497C>T	ENST00000418404.3	-	4	606	c.443G>A	c.(442-444)cGc>cAc	p.R148H	MYH13_ENST00000252172.4_Missense_Mutation_p.R148H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	148	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGCCTCCTGGCGCTTTTTGCC	0.527																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(442-444)cGc>cAc		myosin, heavy chain 13, skeletal muscle		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	82.0	92.0	88.0		443	4.1	1.0	17		88	1,8593	1.2+/-3.3	0,1,4296	no	missense	MYH13	NM_003802.2	29	0,4,6496	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	148/1939	10265497	4,12996	2203	4297	6500	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10265497C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.443G>A	17.37:g.10265497C>T	ENSP00000404570:p.Arg148His					MYH13_ENST00000252172.4_Missense_Mutation_p.R148H|MYH13_ENST00000570743.1_Missense_Mutation_p.R148H	p.R148H			Q9UKX3	MYH13_HUMAN			4	606	-			148			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.443G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302836	0.81136	6.81E-4	1.16E-4	ENSG00000006788	ENST00000252172	D	0.88354	-2.37	4.08	4.08	0.47627	Myosin head, motor domain (2);	.	.	.	.	D	0.96228	0.8770	H	0.96430	3.82	0.46061	D	0.998848	D	0.89917	1.0	D	0.77004	0.989	D	0.97787	1.0236	9	0.87932	D	0	.	16.8101	0.85717	0.0:1.0:0.0:0.0	.	148	Q9UKX3	MYH13_HUMAN	H	148	ENSP00000252172:R148H	ENSP00000252172:R148H	R	-	2	0	MYH13	10206222	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	7.492000	0.81482	2.272000	0.75746	0.313000	0.20887	CGC		0.527	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		63	121	0	0	0	1	0	63	121				
SMARCD3	6604	broad.mit.edu	37	7	150936733	150936733	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr7:150936733G>A	ENST00000262188.8	-	11	1683	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	SMARCD3_ENST00000477169.1_5'Flank|MIR671_ENST00000390183.1_RNA|SMARCD3_ENST00000392811.2_Missense_Mutation_p.R412C|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000356800.2_Missense_Mutation_p.R412C	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	425					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCTGGGAGCGGAGCAGGTCT	0.537																																						ENST00000392811.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15						c.(1234-1236)Cgc>Tgc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3							108.0	111.0	110.0					7																	150936733		2203	4300	6503	SO:0001583	missense	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150936733G>A	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.1273C>T	7.37:g.150936733G>A	ENSP00000262188:p.Arg425Cys					SMARCD3_ENST00000356800.2_Missense_Mutation_p.R412C|SMARCD3_ENST00000262188.8_Missense_Mutation_p.R425C	p.R412C	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	1708	-			425					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	c.1234C>T	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364043	0.41902	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.44482	0.92;0.92;0.92	5.09	4.21	0.49690	.	0.267477	0.39687	N	0.001296	T	0.26702	0.0653	N	0.14661	0.345	0.49582	D	0.999804	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.05484	-1.0882	10	0.56958	D	0.05	-5.6327	11.3474	0.49569	0.0888:0.0:0.9112:0.0	.	412;425	Q6STE5-2;Q6STE5	.;SMRD3_HUMAN	C	425;412;412;377	ENSP00000262188:R425C;ENSP00000376558:R412C;ENSP00000349254:R412C	ENSP00000262188:R425C	R	-	1	0	SMARCD3	150567666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.304000	0.43655	1.148000	0.42385	0.655000	0.94253	CGC		0.537	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		15	112	0	0	0	1	0	15	112				
SNX9	51429	broad.mit.edu	37	6	158342658	158342658	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr6:158342658G>A	ENST00000392185.3	+	10	1216	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	349	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AGAAAGTGAAGTTTTCCAGCA	0.428																																						ENST00000392185.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1045-1047)Gtt>Att		sorting nexin 9							85.0	81.0	83.0					6																	158342658		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158342658G>A	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1045G>A	6.37:g.158342658G>A	ENSP00000376024:p.Val349Ile						p.V349I	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	10	1216	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	349			PX.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.1045G>A	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	G	8.882	0.951906	0.18431	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.42131	0.98	5.68	0.548	0.17208	Phox homologous domain (5);	0.183339	0.47455	D	0.000233	T	0.21145	0.0509	L	0.38175	1.15	0.58432	D	0.999999	B	0.23937	0.094	B	0.25140	0.058	T	0.23297	-1.0192	10	0.18710	T	0.47	-26.299	20.9179	0.99941	0.0:0.6978:0.3022:0.0	.	349	Q9Y5X1	SNX9_HUMAN	I	349;349;149	ENSP00000376024:V349I	ENSP00000252631:V149I	V	+	1	0	SNX9	158262646	1.000000	0.71417	0.574000	0.28523	0.732000	0.41865	3.692000	0.54727	2.159000	0.67721	0.459000	0.35465	GTT		0.428	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			24	44	0	0	0	1	0	24	44				
ZNRF2P2	100271874	broad.mit.edu	37	7	29690658	29690658	+	RNA	SNP	A	A	C	rs1728537	byFrequency	TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr7:29690658A>C	ENST00000426767.1	-	0	663					NR_024278.1				zinc and ring finger 2 pseudogene 2																		AAAGGTCAGGAGAGCCCTAGG	0.527													a|||	1264	0.252396	0.4107	0.2968	5008	,	,		16834	0.0694		0.2445	False		,,,				2504	0.2035					ENST00000426767.1																			0																																																			0							g.chr7:29690658A>C			7p14.3	2011-08-22			ENSG00000239968	ENSG00000225264			42793	pseudogene	pseudogene							Standard	NR_027347		Approved				OTTHUMG00000152750		7.37:g.29690658A>C								NR_024278.1						0	663	-									RNA	SNP	ENST00000426767.1	37																																																																																						0.527	ZNRF2P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000327679.1	NR_027347		4	27	0	0	0	1	0	4	27				
TRAK1	22906	broad.mit.edu	37	3	42167045	42167045	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr3:42167045T>G	ENST00000327628.5	+	2	625	c.225T>G	c.(223-225)atT>atG	p.I75M	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	75	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CACCTCTCATTTCTCCAGATG	0.463																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(223-225)atT>atG		trafficking protein, kinesin binding 1							148.0	139.0	142.0					3																	42167045		1962	4151	6113	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42167045T>G		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.225T>G	3.37:g.42167045T>G	ENSP00000328998:p.Ile75Met					TRAK1_ENST00000487159.1_3'UTR	p.I75M	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			2	625	+			75			HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.225T>G	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.449698	0.43531	.	.	ENSG00000182606	ENST00000327628;ENST00000543338	T	0.16897	2.31	5.73	-0.277	0.12898	.	0.272610	0.33670	N	0.004662	T	0.09686	0.0238	N	0.22421	0.69	0.80722	D	1	P;B	0.39022	0.655;0.304	B;B	0.39771	0.309;0.214	T	0.25433	-1.0132	10	0.30078	T	0.28	.	6.4178	0.21725	0.0:0.3471:0.1282:0.5246	.	75;75	B7Z347;Q9UPV9	.;TRAK1_HUMAN	M	75	ENSP00000328998:I75M	ENSP00000328998:I75M	I	+	3	3	TRAK1	42142049	0.981000	0.34729	0.994000	0.49952	0.997000	0.91878	0.160000	0.16462	-0.037000	0.13646	0.533000	0.62120	ATT		0.463	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		50	99	0	0	0	1	0	50	99				
FREM2	341640	broad.mit.edu	37	13	39263731	39263731	+	Silent	SNP	C	C	T	rs41292755	byFrequency	TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr13:39263731C>T	ENST00000280481.7	+	1	2466	c.2250C>T	c.(2248-2250)gaC>gaT	p.D750D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	750					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D750E(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGACACAGACGAAAATCACC	0.527													c|||	500	0.0998403	0.0121	0.0879	5008	,	,		18719	0.1032		0.1153	False		,,,				2504	0.2076					ENST00000280481.7																			1	Substitution - Missense(1)	p.D750E(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2248-2250)gaC>gaT		FRAS1 related extracellular matrix protein 2		C		76,4330	68.1+/-105.8	0,76,2127	75.0	79.0	78.0		2250	0.7	1.0	13	dbSNP_127	78	876,7724	198.0+/-242.5	33,810,3457	no	coding-synonymous	FREM2	NM_207361.4		33,886,5584	TT,TC,CC		10.186,1.7249,7.3197		750/3170	39263731	952,12054	2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263731C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2250C>T	13.37:g.39263731C>T							p.D750D	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2466	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	750					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.2250C>T	CCDS31960.1																																																																																				0.527	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	47	0	0	0	1	0	4	47				
PLEKHA5	54477	broad.mit.edu	37	12	19408022	19408022	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr12:19408022A>G	ENST00000299275.6	+	5	361	c.355A>G	c.(355-357)Ata>Gta	p.I119V	PLEKHA5_ENST00000543806.1_Missense_Mutation_p.I11V|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.I119V|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.I119V|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.I119V|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.I11V|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.I119V|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.I119V|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.I119V	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	119					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGAACGGCCAATAAGTATGAT	0.358																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(355-357)Ata>Gta		pleckstrin homology domain containing, family A member 5							120.0	112.0	115.0					12																	19408022		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19408022A>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.355A>G	12.37:g.19408022A>G	ENSP00000299275:p.Ile119Val					PLEKHA5_ENST00000309364.4_Missense_Mutation_p.I119V|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.I11V|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.I119V|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.I119V|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.I119V|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.I119V|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.I11V|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.I119V	p.I119V	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			5	359	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		119					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.355A>G	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	2.445	-0.327616	0.05314	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000412219;ENST00000429027;ENST00000299275;ENST00000538714;ENST00000538305;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.28666	2.75;2.75;2.75;2.75;2.75;2.75;2.75;1.6;3.04;3.04;3.03	4.87	2.47	0.30058	.	0.455403	0.24625	N	0.036935	T	0.10465	0.0256	N	0.08118	0	0.48901	D	0.999728	B;B;B;B;B;B	0.11235	0.004;0.001;0.001;0.002;0.001;0.002	B;B;B;B;B;B	0.11329	0.006;0.003;0.002;0.002;0.003;0.004	T	0.25152	-1.0140	10	0.02654	T	1	-7.9378	3.3669	0.07207	0.5517:0.2052:0.2431:0.0	.	119;11;11;119;119;119	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0;Q9HAU0-2	.;.;.;.;PKHA5_HUMAN;.	V	119;119;119;119;119;119;119;119;119;11;11;11;11	ENSP00000325155:I119V;ENSP00000347560:I119V;ENSP00000352104:I119V;ENSP00000311239:I119V;ENSP00000404296:I119V;ENSP00000299275:I119V;ENSP00000439673:I119V;ENSP00000446308:I11V;ENSP00000400411:I11V;ENSP00000439837:I11V;ENSP00000440371:I11V	ENSP00000299275:I119V	I	+	1	0	PLEKHA5	19299289	0.098000	0.21812	0.744000	0.31058	0.977000	0.68977	0.552000	0.23376	0.336000	0.23639	0.377000	0.23210	ATA		0.358	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		21	57	0	0	0	1	0	21	57				
PPL	5493	broad.mit.edu	37	16	4934540	4934540	+	Silent	SNP	G	G	A			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr16:4934540G>A	ENST00000345988.2	-	22	4205	c.4116C>T	c.(4114-4116)gcC>gcT	p.A1372A	PPL_ENST00000590782.2_Silent_p.A1370A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1372					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGATGCTCTCGGCAAAGGCGC	0.677																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4114-4116)gcC>gcT		periplakin							92.0	99.0	97.0					16																	4934540		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934540G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4116C>T	16.37:g.4934540G>A						PPL_ENST00000590782.2_Silent_p.A1370A	p.A1372A	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4205	-			1372					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.4116C>T	CCDS10526.1																																																																																				0.677	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		29	211	0	0	0	1	0	29	211				
CYP4F24P	388514	broad.mit.edu	37	19	15871692	15871692	+	lincRNA	SNP	G	G	A			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr19:15871692G>A	ENST00000595525.1	+	0	508																											GAGTTGAAGCGGAAGGGGTTG	0.577																																						ENST00000595525.1																			0																																																			0							g.chr19:15871692G>A																													19.37:g.15871692G>A						CYP4F24P_ENST00000587443.2_RNA								0	508	+									RNA	SNP	ENST00000595525.1	37																																																																																						0.577	LLNLR-249E10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000472008.1			25	54	0	0	0	1	0	25	54				
LILRB1	10859	broad.mit.edu	37	19	55145098	55145098	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr19:55145098G>A	ENST00000396331.1	+	9	1628	c.1271G>A	c.(1270-1272)gGg>gAg	p.G424E	LILRB1_ENST00000427581.2_Missense_Mutation_p.G460E|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Missense_Mutation_p.G424E|LILRB1_ENST00000396327.3_Missense_Mutation_p.G424E|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Missense_Mutation_p.G424E|LILRB1_ENST00000434867.2_Missense_Mutation_p.G424E|LILRB1_ENST00000396321.2_Missense_Mutation_p.G424E|LILRB1_ENST00000396315.1_Missense_Mutation_p.G424E|LILRB1_ENST00000396317.1_Intron|LILRB1_ENST00000324602.7_Missense_Mutation_p.G424E	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	424					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGACCGTCTGGGGGCCCCAGC	0.612										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1270-1272)gGg>gAg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							27.0	32.0	31.0					19																	55145098		1913	4118	6031	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55145098G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1271G>A	19.37:g.55145098G>A	ENSP00000379622:p.Gly424Glu	HNSCC(37;0.09)				LILRB1_ENST00000396327.3_Missense_Mutation_p.G424E|LILRB1_ENST00000396332.4_Missense_Mutation_p.G424E|LILRB1_ENST00000427581.2_Missense_Mutation_p.G460E|LILRB1_ENST00000396315.1_Missense_Mutation_p.G424E|LILRB1_ENST00000396321.2_Missense_Mutation_p.G424E|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Missense_Mutation_p.G424E|LILRB1_ENST00000396317.1_Intron|LILRB1_ENST00000324602.7_Missense_Mutation_p.G424E|LILRB1_ENST00000434867.2_Missense_Mutation_p.G424E	p.G424E	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	9	1628	+			424					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1271G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.438043	0.01098	.	.	ENSG00000104972	ENST00000396321;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396315	T;T;T;T;T;T;T;T;T	0.00505	7.07;6.93;7.07;7.05;7.03;7.07;7.07;7.06;7.03	2.02	-0.245	0.13027	.	.	.	.	.	T	0.00328	0.0010	L	0.39245	1.2	0.09310	N	1	B;B;B;B	0.16396	0.007;0.017;0.016;0.011	B;B;B;B	0.23852	0.02;0.027;0.049;0.016	T	0.45131	-0.9282	9	0.02654	T	1	.	4.1604	0.10280	0.3938:0.0:0.6062:0.0	.	424;424;424;424	Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;LIRB1_HUMAN	E	424;424;424;424;424;424;424;460;424	ENSP00000379614:G424E;ENSP00000409968:G424E;ENSP00000379622:G424E;ENSP00000379618:G424E;ENSP00000315997:G424E;ENSP00000405243:G424E;ENSP00000379623:G424E;ENSP00000395004:G460E;ENSP00000379608:G424E	ENSP00000315997:G424E	G	+	2	0	LILRB1	59836910	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.050000	0.14120	0.013000	0.14918	0.195000	0.17529	GGG		0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			13	8	0	0	0	1	0	13	8				
LEMD1	93273	broad.mit.edu	37	1	205350961	205350961	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr1:205350961G>A	ENST00000367153.4	-	6	473	c.371C>T	c.(370-372)aCc>aTc	p.T124I	LEMD1_ENST00000367154.1_Missense_Mutation_p.P77S|LEMD1_ENST00000367151.2_Missense_Mutation_p.T83I|LEMD1_ENST00000367149.3_Missense_Mutation_p.P36S|LEMD1_ENST00000367152.1_Missense_Mutation_p.T83I|LEMD1_ENST00000391936.2_Missense_Mutation_p.P77S|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000476884.1_5'UTR	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	124						integral component of membrane (GO:0016021)				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			TGTGATTCTGGTGCTTGGTGC	0.512																																						ENST00000367153.4																			0				breast(1)|lung(2)	3						c.(370-372)aCc>aTc		LEM domain containing 1							221.0	193.0	203.0					1																	205350961		2203	4300	6503	SO:0001583	missense	93273					integral to membrane|nuclear envelope		g.chr1:205350961G>A		CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1	1q32.1	2009-03-25			ENSG00000186007	ENSG00000186007			18725	protein-coding gene	gene with protein product	"""cancer/testis antigen 50"""	610480				15254688	Standard	NM_001199050		Approved	LEMP-1, CT50	uc001hcj.2	Q68G75	OTTHUMG00000037201	ENST00000367153.4:c.371C>T	1.37:g.205350961G>A	ENSP00000356121:p.Thr124Ile					LEMD1_ENST00000391936.2_Missense_Mutation_p.P77S|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367149.3_Missense_Mutation_p.P36S|LEMD1_ENST00000367152.1_Missense_Mutation_p.T83I|LEMD1_ENST00000367151.2_Missense_Mutation_p.T83I|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367154.1_Missense_Mutation_p.P77S	p.T124I	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0938)		6	473	-	Breast(84;0.247)		124					Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4	Missense_Mutation	SNP	ENST00000367153.4	37	c.371C>T	CCDS55679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.76|11.76	1.735113|1.735113	0.30774|0.30774	.|.	.|.	ENSG00000186007|ENSG00000186007	ENST00000367154;ENST00000391936;ENST00000367149|ENST00000367152;ENST00000367153;ENST00000367151	T;T;T|T;T;T	0.58358|0.45668	0.95;0.95;0.34|0.89;0.89;0.89	4.31|4.31	-1.56|-1.56	0.08532|0.08532	.|.	.|1.535450	.|0.03609	.|N	.|0.234517	T|T	0.28928|0.28928	0.0718|0.0718	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B;B	0.26483|0.16396	0.15|0.017;0.002	B|B;B	0.23852|0.10450	0.049|0.005;0.002	T|T	0.20338|0.20338	-1.0278|-1.0278	8|9	0.87932|0.46703	D|T	0|0.11	-22.5303|-22.5303	4.7233|4.7233	0.12929|0.12929	0.4016:0.1537:0.4447:0.0|0.4016:0.1537:0.4447:0.0	.|.	77|83;124	Q68G75-5|Q68G75-3;Q68G75	.|.;LEMD1_HUMAN	S|I	77;77;36|83;124;83	ENSP00000356122:P77S;ENSP00000375801:P77S;ENSP00000356117:P36S|ENSP00000356120:T83I;ENSP00000356121:T124I;ENSP00000356119:T83I	ENSP00000356117:P36S|ENSP00000356119:T83I	P|T	-|-	1|2	0|0	LEMD1|LEMD1	203617584|203617584	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-0.071000|-0.071000	0.11505|0.11505	-0.383000|-0.383000	0.07858|0.07858	-0.163000|-0.163000	0.13421|0.13421	CCA|ACC		0.512	LEMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090401.1	NM_001001552		54	108	0	0	0	1	0	54	108				
UBA7	7318	broad.mit.edu	37	3	49847804	49847804	+	Missense_Mutation	SNP	C	C	T	rs115185290	byFrequency	TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr3:49847804C>T	ENST00000333486.3	-	13	1683	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	509	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGCGGGATCACCTGTAAGTCT	0.582													C|||	6	0.00119808	0.0	0.0029	5008	,	,		18972	0.0		0.003	False		,,,				2504	0.001					ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(1525-1527)Gtg>Atg		ubiquitin-like modifier activating enzyme 7		C	MET/VAL	3,4403	6.2+/-15.9	0,3,2200	93.0	97.0	96.0		1525	5.7	0.4	3	dbSNP_132	96	42,8558	27.9+/-77.7	0,42,4258	yes	missense	UBA7	NM_003335.2	21	0,45,6458	TT,TC,CC		0.4884,0.0681,0.346	probably-damaging	509/1013	49847804	45,12961	2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847804C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1525G>A	3.37:g.49847804C>T	ENSP00000333266:p.Val509Met						p.V509M	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	13	1683	-			509			2 approximate repeats.		Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.1525G>A	CCDS2805.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	C	16.76	3.211115	0.58343	6.81E-4	0.004884	ENSG00000182179	ENST00000333486	T	0.55234	0.53	5.67	5.67	0.87782	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.122178	0.56097	D	0.000025	T	0.73869	0.3642	H	0.95745	3.715	0.43798	D	0.996347	D	0.53312	0.959	P	0.58130	0.833	D	0.83691	0.0177	10	0.72032	D	0.01	-14.5634	19.7607	0.96316	0.0:1.0:0.0:0.0	.	509	P41226	UBA7_HUMAN	M	509	ENSP00000333266:V509M	ENSP00000333266:V509M	V	-	1	0	UBA7	49822808	0.993000	0.37304	0.423000	0.26634	0.300000	0.27592	2.803000	0.47924	2.686000	0.91538	0.561000	0.74099	GTG		0.582	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		9	125	0	0	0	1	0	9	125				
ARHGAP29	9411	broad.mit.edu	37	1	94652132	94652132	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr1:94652132delG	ENST00000260526.6	-	16	1885	c.1703delC	c.(1702-1704)ccafs	p.P568fs	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	568					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGGTGTTCGTGGAAGTTTTCG	0.378																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1702-1704)cafs		Rho GTPase activating protein 29							168.0	167.0	168.0					1																	94652132		2203	4300	6503	SO:0001589	frameshift_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94652132delG		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1703delC	1.37:g.94652132delG	ENSP00000260526:p.Pro568fs					ARHGAP29_ENST00000482481.1_5'UTR	p.P568fs	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	16	1885	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	568					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Frame_Shift_Del	DEL	ENST00000260526.6	37	c.1703delC	CCDS748.1																																																																																				0.378	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		22	118						22	118	---	---	---	---
MED15P9	285103	broad.mit.edu	37	2	130893081	130893081	+	RNA	DEL	A	A	-			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr2:130893081delA	ENST00000427638.1	+	0	542					NR_033903.1				mediator complex subunit 15 pseudogene 9																		actccatctcaaaaaaaaaaa	0.562																																						ENST00000427638.1																			0																																																			0							g.chr2:130893081delA	BC036597		2q21.1	2014-05-06	2013-08-13	2013-08-13	ENSG00000223760	ENSG00000223760			44130	pseudogene	pseudogene			"""CCDC74B antisense RNA 1 (non-protein coding)"", ""CCDC74B antisense RNA 1"""	CCDC74B-AS1			Standard	NR_033903		Approved		uc021voa.1				2.37:g.130893081delA								NR_033903.1						0	542	+									RNA	DEL	ENST00000427638.1	37																																																																																						0.562	MED15P9-002	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000470767.1	NR_033903		4	3						4	3	---	---	---	---
RASEF	158158	broad.mit.edu	37	9	85611935	85611936	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr9:85611935_85611936insA	ENST00000376447.3	-	14	2171_2172	c.1911_1912insT	c.(1909-1914)gatatgfs	p.M638fs		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	638					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACCTCAATCATATCTACCCATT	0.371																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1909-1914)gatgatfs		RAS and EF-hand domain containing																																				SO:0001589	frameshift_variant	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85611935_85611936insA	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1912dupT	9.37:g.85611936_85611936dupA	ENSP00000365630:p.Met638fs						p.D638fs	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			14	2171_2172	-			638					A6NC29|Q96N04	Frame_Shift_Ins	INS	ENST00000376447.3	37	c.1911_1912insT	CCDS6662.1																																																																																				0.371	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		10	53						10	53	---	---	---	---
DDIT4	54541	broad.mit.edu	37	10	74034179	74034185	+	Splice_Site	DEL	GGTGAGC	GGTGAGC	-			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr10:74034179_74034185delGGTGAGC	ENST00000307365.3	+	2	406	c.205delGGTGAGC	c.(205-207)ggt>gt	p.G69fs	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	69					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GCCGGAGGAAGGTGAGCGGTGGGCGGG	0.7																																						ENST00000307365.3																			0				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.e2+1		DNA-damage-inducible transcript 4																																				SO:0001630	splice_region_variant	54541				apoptosis			g.chr10:74034179_74034185delGGTGAGC	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.205+1GGTGAGC>-	10.37:g.74034179_74034185delGGTGAGC							p.69_splice	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN			2	406	+			69					Q9H0S3	Splice_Site	DEL	ENST00000307365.3	37	c.205_splice	CCDS7315.1																																																																																				0.700	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058	Frame_Shift_Del	7	48						7	48	---	---	---	---
ABTB2	25841	broad.mit.edu	37	11	34184192	34184201	+	Frame_Shift_Del	DEL	GGGCCTTGGT	GGGCCTTGGT	-			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr11:34184192_34184201delGGGCCTTGGT	ENST00000435224.2	-	10	2564_2573	c.2140_2149delACCAAGGCCC	c.(2140-2151)accaaggccctafs	p.TKAL714fs	ABTB2_ENST00000298992.2_Frame_Shift_Del_p.TKAL528fs	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	714					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GCCTCCTGTAGGGCCTTGGTGCGGGTCCGG	0.662																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(2140-2151)tafs		ankyrin repeat and BTB (POZ) domain containing 2																																				SO:0001589	frameshift_variant	25841						DNA binding	g.chr11:34184192_34184201delGGGCCTTGGT	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2140_2149delACCAAGGCCC	11.37:g.34184192_34184201delGGGCCTTGGT	ENSP00000410157:p.Thr714fs					ABTB2_ENST00000298992.2_Frame_Shift_Del_p.TKAL528fs	p.TKAL714fs	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			10	2564_2573	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	528					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Frame_Shift_Del	DEL	ENST00000435224.2	37	c.2140_2149delACCAAGGCCC	CCDS7890.2																																																																																				0.662	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		12	52						12	52	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	8990110	8990111	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr12:8990110_8990111delGA	ENST00000299698.7	+	8	983_984	c.803_804delGA	c.(802-804)cgafs	p.R268fs		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TACTGGTATCGAGAGGTGGAAC	0.495																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(802-804)cfs		alpha-2-macroglobulin-like 1																																				SO:0001589	frameshift_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8990110_8990111delGA	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.803_804delGA	12.37:g.8990112_8990113delGA	ENSP00000299698:p.Arg268fs						p.R268fs	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			8	983_984	+			112						Frame_Shift_Del	DEL	ENST00000299698.7	37	c.803_804delGA	CCDS8596.2																																																																																				0.495	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		29	91						29	91	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20138377	20138377	+	RNA	DEL	A	A	-	rs374461730		TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr14:20138377delA	ENST00000548261.1	+	0	391																											CAaaagaaagaaagaaagaaa	0.383																																						ENST00000548261.1																			0																																																			0							g.chr14:20138377delA																													14.37:g.20138377delA														0	391	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.383	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			3	5						3	5	---	---	---	---
NPIPB1P	729602	broad.mit.edu	37	18	11625378	11625379	+	RNA	INS	-	-	A	rs141097667	byFrequency	TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr18:11625378_11625379insA	ENST00000547442.1	-	0	621									nuclear pore complex interacting protein family, member B1, pseudogene																		CTCTTCCCCCGAAAAATGACAA	0.401													aaaaaa|AAAAA|AAAAAA|deletion	3507	0.70028	0.3805	0.8501	5008	,	,		12701	0.8056		0.7843	False		,,,				2504	0.8313					ENST00000547442.1																			0																																																			0							g.chr18:11625378_11625379insA			18p11.21	2013-06-11			ENSG00000257513	ENSG00000257513			37452	pseudogene	pseudogene							Standard	NG_023368		Approved				OTTHUMG00000170512		18.37:g.11625383_11625383dupA														0	621	-									RNA	INS	ENST00000547442.1	37																																																																																						0.401	NPIPB1P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000409451.1	NG_023368		6	8						6	8	---	---	---	---
CD209	30835	broad.mit.edu	37	19	7810420	7810420	+	Frame_Shift_Del	DEL	C	C	-	rs199880715		TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr19:7810420delC	ENST00000315599.7	-	4	754	c.732delG	c.(730-732)cagfs	p.Q244fs	CD209_ENST00000601256.1_Frame_Shift_Del_p.Q220fs|CD209_ENST00000593660.1_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000315591.8_Frame_Shift_Del_p.Q220fs|CD209_ENST00000301357.8_Frame_Shift_Del_p.Q108fs|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000204801.8_Frame_Shift_Del_p.Q200fs|CD209_ENST00000354397.6_Frame_Shift_Del_p.Q244fs|CD209_ENST00000601951.1_Frame_Shift_Del_p.Q220fs	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	244	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAGCCTTCAGCTGGGTCAGCT	0.567																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(730-732)cafs		CD209 molecule							152.0	156.0	155.0					19																	7810420		2203	4300	6503	SO:0001589	frameshift_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810420delC	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.732delG	19.37:g.7810420delC	ENSP00000315477:p.Gln244fs					CD209_ENST00000354397.6_Frame_Shift_Del_p.Q244fs|CD209_ENST00000601951.1_Frame_Shift_Del_p.Q220fs|CD209_ENST00000593821.1_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000601256.1_Frame_Shift_Del_p.Q220fs|CD209_ENST00000301357.8_Frame_Shift_Del_p.Q108fs|CD209_ENST00000204801.8_Frame_Shift_Del_p.Q200fs|CD209_ENST00000315591.8_Frame_Shift_Del_p.Q220fs	p.Q244fs	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	754	-			244			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Frame_Shift_Del	DEL	ENST00000315599.7	37	c.732delG	CCDS12186.1																																																																																				0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		10	171						10	171	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58883399	58883400	+	lincRNA	INS	-	-	T	rs35369169|rs111867069|rs11408280	byFrequency	TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr20:58883399_58883400insT	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						ggaccgggaaacagatgcttac	0.569													T|-|T|deletion	1366	0.272764	0.4244	0.1657	5008	,	,		18567	0.127		0.2455	False		,,,				2504	0.3221					ENST00000432910.1																			0																																																			0							g.chr20:58883399_58883400insT																													20.37:g.58883399_58883400insT								NR_046099.1						0	332	+									RNA	INS	ENST00000432910.1	37																																																																																						0.569	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			2	4						2	4	---	---	---	---
