#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
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	284	0	0	0	1	0	6	284				
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	G	T	rs199749095	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr11:320606G>T	ENST00000399808.4	-	1	444	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	70	Interaction with SPP1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P70T(3)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632																																						ENST00000399808.4																			3	Substitution - Missense(3)	p.P70T(3)	endometrium(2)|central_nervous_system(1)	central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18						c.(208-210)Ccc>Acc		interferon induced transmembrane protein 3							89.0	95.0	93.0					11																	320606		2101	4210	6311	SO:0001583	missense	10410				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		g.chr11:320606G>T	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.208C>A	11.37:g.320606G>T	ENSP00000382707:p.Pro70Thr					IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA	p.P70T	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	444	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	70			Interaction with SPP1.		Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	37	c.208C>A	CCDS41585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|G	0.076|0.076	-1.193620|-1.193620	0.01594|0.01594	.|.	.|.	ENSG00000142089|ENSG00000142089	ENST00000270031|ENST00000399808;ENST00000526811	.|T;T	.|0.78595	.|-0.94;-1.19	4.65|4.65	-9.3|-9.3	0.00649|0.00649	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54447	.|0.1859	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.32375	.|-0.9909	.|9	.|0.22109	.|T	.|0.4	.|.	2.5632|2.5632	0.04777|0.04777	0.1587:0.0951:0.2785:0.4676|0.1587:0.0951:0.2785:0.4676	.|.	.|70	.|Q01628	.|IFM3_HUMAN	.|T	-1|70;49	.|ENSP00000382707:P70T;ENSP00000432108:P49T	.|ENSP00000382707:P70T	.|P	-|-	.|1	.|0	IFITM3|IFITM3	310606|310606	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	-1.460000|-1.460000	0.02368|0.02368	-3.272000|-3.272000	0.00199|0.00199	-2.532000|-2.532000	0.00182|0.00182	.|CCC		0.632	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034		5	150	1	0	0.000978159	1	0.00111034	5	150				
FRY	10129	broad.mit.edu	37	13	32698958	32698958	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr13:32698958T>C	ENST00000380250.3	+	7	1158	c.662T>C	c.(661-663)aTg>aCg	p.M221T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	221						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTGGCAATATGCATATTGTG	0.438																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(661-663)aTg>aCg		furry homolog (Drosophila)							142.0	137.0	139.0					13																	32698958		1934	4145	6079	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32698958T>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.662T>C	13.37:g.32698958T>C	ENSP00000369600:p.Met221Thr						p.M221T	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	7	1158	+		Lung SC(185;0.0271)	221					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.662T>C	CCDS41875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.62|17.62	3.434827|3.434827	0.62955|0.62955	.|.	.|.	ENSG00000073910|ENSG00000073910	ENST00000267067|ENST00000380250	.|T	.|0.23147	.|1.92	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24198|0.24198	0.0586|0.0586	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|B	.|0.30634	.|0.288	.|B	.|0.25140	.|0.058	T|T	0.03344|0.03344	-1.1046|-1.1046	6|10	0.87932|0.22706	D|T	0|0.39	.|.	15.5243|15.5243	0.75890|0.75890	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|221	.|Q5TBA9	.|FRY_HUMAN	R|T	148|221	.|ENSP00000369600:M221T	ENSP00000267067:C148R|ENSP00000369600:M221T	C|M	+|+	1|2	0|0	FRY|FRY	31596958|31596958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.040000|8.040000	0.89188|0.89188	2.081000|2.081000	0.62600|0.62600	0.459000|0.459000	0.35465|0.35465	TGC|ATG		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		5	201	0	0	0	1	0	5	201				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	261	0	0	0	1	0	6	261				
MYH7B	57644	broad.mit.edu	37	20	33578552	33578552	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr20:33578552C>A	ENST00000262873.7	+	21	2207	c.2115C>A	c.(2113-2115)aaC>aaA	p.N705K	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	663	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGAACCTCAACAAGCTGATGA	0.607																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2113-2115)aaC>aaA		myosin, heavy chain 7B, cardiac muscle, beta							58.0	66.0	63.0					20																	33578552		2098	4219	6317	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33578552C>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2115C>A	20.37:g.33578552C>A	ENSP00000262873:p.Asn705Lys						p.N705K	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		21	2207	+			663			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2115C>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877210	0.51801	.	.	ENSG00000078814	ENST00000262873	D	0.87103	-2.21	3.8	3.8	0.43715	Myosin head, motor domain (2);	0.000000	0.41396	D	0.000883	D	0.86096	0.5851	M	0.80332	2.49	0.47441	D	0.999425	B	0.29341	0.242	B	0.27796	0.083	D	0.86794	0.1987	10	0.87932	D	0	.	10.624	0.45497	0.0:0.9094:0.0:0.0906	.	663	A7E2Y1	MYH7B_HUMAN	K	705	ENSP00000262873:N705K	ENSP00000262873:N705K	N	+	3	2	MYH7B	33042213	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.573000	0.36472	2.422000	0.82143	0.561000	0.74099	AAC		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		4	68	1	0	0.150653	1	0.162242	4	68				
SYNPO2L	79933	broad.mit.edu	37	10	75406952	75406952	+	Missense_Mutation	SNP	A	A	G	rs200429699		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr10:75406952A>G	ENST00000394810.2	-	4	2607	c.2458T>C	c.(2458-2460)Ttt>Ctt	p.F820L	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.F596L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	820	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TGGGGGAAAAAGGGAGAGAGC	0.577													A|||	1	0.000199681	0.0	0.0	5008	,	,		15267	0.0		0.001	False		,,,				2504	0.0					ENST00000394810.2																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2458-2460)Ttt>Ctt		synaptopodin 2-like							62.0	74.0	70.0					10																	75406952		2202	4300	6502	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406952A>G	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2458T>C	10.37:g.75406952A>G	ENSP00000378289:p.Phe820Leu					SYNPO2L_ENST00000372873.4_Missense_Mutation_p.F596L|SYNPO2L_ENST00000372872.4_Intron	p.F820L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2607	-	Prostate(51;0.0112)		820			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2458T>C	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.813125	0.70912	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.22539	1.95;2.26	4.98	4.98	0.66077	.	0.119748	0.64402	D	0.000019	T	0.23766	0.0575	L	0.54323	1.7	0.44500	D	0.997447	P;P	0.45531	0.666;0.86	B;P	0.44561	0.162;0.453	T	0.03597	-1.1021	10	0.12103	T	0.63	-5.368	14.8374	0.70194	1.0:0.0:0.0:0.0	.	820;596	Q9H987;Q9H987-2	SYP2L_HUMAN;.	L	596;820	ENSP00000361964:F596L;ENSP00000378289:F820L	ENSP00000361964:F596L	F	-	1	0	SYNPO2L	75076958	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.139000	0.94554	2.090000	0.63153	0.402000	0.26972	TTT		0.577	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		3	147	0	0	0	1	0	3	147				
GGT1	2678	broad.mit.edu	37	22	25023483	25023483	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr22:25023483T>G	ENST00000400382.1	+	12	1860	c.1105T>G	c.(1105-1107)Tac>Gac	p.Y369D	GGT1_ENST00000401885.1_Missense_Mutation_p.Y25D|GGT1_ENST00000406383.2_Missense_Mutation_p.Y369D|GGT1_ENST00000404920.1_Missense_Mutation_p.Y25D|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400380.1_Missense_Mutation_p.Y369D|GGT1_ENST00000400383.1_Missense_Mutation_p.Y369D|GGT1_ENST00000248923.4_Missense_Mutation_p.Y369D|GGT1_ENST00000404223.1_Missense_Mutation_p.Y25D|GGT1_ENST00000404532.1_Missense_Mutation_p.Y25D|GGT1_ENST00000403838.1_Missense_Mutation_p.Y25D			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	369					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GATCTCCTACTACAAGCCCGA	0.627																																						ENST00000400382.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(1105-1107)Tac>Gac		gamma-glutamyltransferase 1	Glutathione(DB00143)						31.0	31.0	31.0					22																	25023483		2198	4294	6492	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25023483T>G	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1105T>G	22.37:g.25023483T>G	ENSP00000383232:p.Tyr369Asp					GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404532.1_Missense_Mutation_p.Y25D|GGT1_ENST00000400380.1_Missense_Mutation_p.Y369D|GGT1_ENST00000400383.1_Missense_Mutation_p.Y369D|GGT1_ENST00000248923.4_Missense_Mutation_p.Y369D|GGT1_ENST00000406383.2_Missense_Mutation_p.Y369D|GGT1_ENST00000404920.1_Missense_Mutation_p.Y25D|GGT1_ENST00000401885.1_Missense_Mutation_p.Y25D|GGT1_ENST00000403838.1_Missense_Mutation_p.Y25D|GGT1_ENST00000404223.1_Missense_Mutation_p.Y25D	p.Y369D			P19440	GGT1_HUMAN			12	1860	+			369					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.1105T>G	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	12.44	1.938502	0.34189	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383;ENST00000401885;ENST00000404532;ENST00000403838;ENST00000404223;ENST00000404920	T;T;T;T;T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19	3.54	2.46	0.29980	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	H	0.94734	3.575	0.45108	D	0.998125	D	0.89917	1.0	D	0.87578	0.998	T	0.18429	-1.0337	10	0.66056	D	0.02	-44.3186	8.4691	0.32975	0.1745:0.0:0.0:0.8255	.	369	P19440	GGT1_HUMAN	D	369;369;369;369;369;369;25;25;25;25;25	ENSP00000248923:Y369D;ENSP00000393537:Y369D;ENSP00000383232:Y369D;ENSP00000383233:Y369D;ENSP00000383231:Y369D;ENSP00000385975:Y369D;ENSP00000384381:Y25D;ENSP00000385445:Y25D;ENSP00000384820:Y25D;ENSP00000385016:Y25D;ENSP00000385001:Y25D	ENSP00000248923:Y369D	Y	+	1	0	GGT1	23353483	1.000000	0.71417	0.390000	0.26220	0.034000	0.12701	7.426000	0.80270	0.515000	0.28320	0.248000	0.18094	TAC		0.627	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		3	35	0	0	0	1	0	3	35				
ADAMTS19	171019	broad.mit.edu	37	5	128863519	128863519	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr5:128863519A>T	ENST00000274487.4	+	5	1292	c.1147A>T	c.(1147-1149)Act>Tct	p.T383S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	383	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCTCCATGAAACTCCAGTAAG	0.308																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1147-1149)Act>Tct		ADAM metallopeptidase with thrombospondin type 1 motif, 19							88.0	94.0	92.0					5																	128863519		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128863519A>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1147A>T	5.37:g.128863519A>T	ENSP00000274487:p.Thr383Ser					CTC-575N7.1_ENST00000503616.1_RNA	p.T383S	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	5	1292	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	383			Peptidase M12B.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1147A>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443333	0.43429	.	.	ENSG00000145808	ENST00000274487	T	0.62639	0.01	4.41	4.41	0.53225	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.158954	0.41712	D	0.000833	T	0.35770	0.0943	N	0.03608	-0.345	0.31821	N	0.625927	B	0.19200	0.034	B	0.26310	0.068	T	0.38156	-0.9674	9	.	.	.	.	9.5679	0.39409	0.7405:0.0:0.0:0.2595	.	383	Q8TE59	ATS19_HUMAN	S	383	ENSP00000274487:T383S	.	T	+	1	0	ADAMTS19	128891418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.529000	0.53532	2.209000	0.71365	0.460000	0.39030	ACT		0.308	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		48	79	0	0	0	1	0	48	79				
YY2	404281	broad.mit.edu	37	X	21875408	21875408	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chrX:21875408C>T	ENST00000429584.2	+	1	1304	c.806C>T	c.(805-807)gCc>gTc	p.A269V	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	269	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CGGGATTACGCCGCCATGAGA	0.498																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(805-807)gCc>gTc		YY2 transcription factor							122.0	123.0	122.0					X																	21875408		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875408C>T	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.806C>T	X.37:g.21875408C>T	ENSP00000389381:p.Ala269Val					MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron	p.A269V	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	1304	+			269			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.806C>T	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	C	9.218	1.032576	0.19590	.	.	ENSG00000230797	ENST00000429584	T	0.10382	2.88	4.52	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061473	0.64402	U	0.000002	T	0.08980	0.0222	L	0.29908	0.895	0.09310	N	1	B	0.27316	0.175	B	0.24701	0.055	T	0.21999	-1.0229	10	0.87932	D	0	.	13.0524	0.58962	0.0:0.5116:0.4884:0.0	.	269	O15391	TYY2_HUMAN	V	269	ENSP00000389381:A269V	ENSP00000389381:A269V	A	+	2	0	YY2	21785329	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	2.107000	0.41844	0.104000	0.17725	-0.202000	0.12741	GCC		0.498	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		5	310	0	0	0	1	0	5	310				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	70	0	0	0	1	0	5	70				
AMBP	259	broad.mit.edu	37	9	116839008	116839008	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr9:116839008A>C	ENST00000265132.3	-	2	392	c.130T>G	c.(130-132)Tgg>Ggg	p.W44G		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	44					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGGTTGTACCACTTCCCATAG	0.597																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(130-132)Tgg>Ggg		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						110.0	78.0	89.0					9																	116839008		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116839008A>C	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.130T>G	9.37:g.116839008A>C	ENSP00000265132:p.Trp44Gly						p.W44G	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			2	392	-			44					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.130T>G	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995141	0.54147	.	.	ENSG00000106927	ENST00000265132	D	0.99557	-6.16	3.86	3.86	0.44501	Lipocalin conserved site (1);Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98797	1.0738	10	0.59425	D	0.04	.	8.9958	0.36052	1.0:0.0:0.0:0.0	.	44	P02760	AMBP_HUMAN	G	44	ENSP00000265132:W44G	ENSP00000265132:W44G	W	-	1	0	AMBP	115878829	1.000000	0.71417	0.969000	0.41365	0.962000	0.63368	5.463000	0.66712	1.624000	0.50355	0.459000	0.35465	TGG		0.597	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		19	49	0	0	0	1	0	19	49				
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711																																						ENST00000374888.1																			2	Substitution - Missense(2)	p.G206R(2)	lung(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(616-618)Ggg>Agg		zinc finger, X-linked, duplicated B							12.0	14.0	13.0					X																	57619097		2186	4257	6443	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619097G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.616G>A	X.37:g.57619097G>A	ENSP00000364023:p.Gly206Arg						p.G206R	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	829	+			206					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.616G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.654782	0.00108	.	.	ENSG00000198455	ENST00000374888	T	0.11063	2.81	2.65	1.78	0.24846	.	0.160870	0.29602	N	0.011697	T	0.04452	0.0122	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41787	-0.9489	10	0.15952	T	0.53	.	4.3042	0.10938	0.3435:0.0:0.6565:0.0	.	206	P98169	ZXDB_HUMAN	R	206	ENSP00000364023:G206R	ENSP00000364023:G206R	G	+	1	0	ZXDB	57635822	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-0.287000	0.08388	0.520000	0.28426	0.556000	0.70494	GGG		0.711	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		4	35	0	0	0	1	0	4	35				
GPLD1	2822	broad.mit.edu	37	6	24446031	24446031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr6:24446031C>A	ENST00000230036.1	-	19	1959	c.1849G>T	c.(1849-1851)Gag>Tag	p.E617*		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	617					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTCTTTTTCTCATCTCGGATG	0.532																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(1849-1851)Gag>Tag		glycosylphosphatidylinositol specific phospholipase D1							112.0	111.0	111.0					6																	24446031		2203	4300	6503	SO:0001587	stop_gained	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24446031C>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1849G>T	6.37:g.24446031C>A	ENSP00000230036:p.Glu617*						p.E617*	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			19	1959	-			617					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Nonsense_Mutation	SNP	ENST00000230036.1	37	c.1849G>T	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	35	5.555615	0.96514	.	.	ENSG00000112293	ENST00000230036	.	.	.	5.49	4.62	0.57501	.	0.478268	0.20745	N	0.086463	.	.	.	.	.	.	0.24283	N	0.995196	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-12.6895	11.0533	0.47903	0.0:0.8494:0.0:0.1506	.	.	.	.	X	617	.	ENSP00000230036:E617X	E	-	1	0	GPLD1	24554010	0.009000	0.17119	0.015000	0.15790	0.404000	0.30871	1.849000	0.39318	1.301000	0.44836	0.655000	0.94253	GAG		0.532	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		4	105	1	0	1	1	1	4	105				
ARHGEF7	8874	broad.mit.edu	37	13	111870032	111870032	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr13:111870032A>G	ENST00000375741.2	+	6	788	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.T87A|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.T130A|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.T159A|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.T2A|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.T77A|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.T2A|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.T2A	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	180					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTAGGACATGACCGATAATAG	0.378																																						ENST00000375741.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(538-540)Acc>Gcc		Rho guanine nucleotide exchange factor (GEF) 7							109.0	104.0	105.0					13																	111870032		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111870032A>G	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.538A>G	13.37:g.111870032A>G	ENSP00000364893:p.Thr180Ala					ARHGEF7_ENST00000317133.5_Missense_Mutation_p.T159A|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.T2A|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.T87A|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.T130A|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.T2A|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.T77A|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.T2A	p.T180A	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		6	788	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		180					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.538A>G	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.377007	0.61735	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000449979;ENST00000370623;ENST00000545635;ENST00000491775;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000467053;ENST00000426073;ENST00000426768;ENST00000375737;ENST00000375723	T;T;T;T;D;T;T;T;T;T;T;T;T	0.94828	0.65;0.65;0.65;0.9;-3.53;0.7;0.68;0.71;0.7;0.71;0.89;0.67;0.65	4.82	4.82	0.62117	.	0.054190	0.64402	D	0.000001	D	0.90246	0.6950	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.25521	0.021;0.121;0.025;0.128	B;B;B;B	0.25759	0.014;0.063;0.034;0.06	D	0.88542	0.3110	10	0.66056	D	0.02	.	14.697	0.69129	1.0:0.0:0.0:0.0	.	77;130;180;159	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	A	159;180;130;2;87;157;2;2;2;2;2;2;77;77;2	ENSP00000325994:T159A;ENSP00000364893:T180A;ENSP00000364891:T130A;ENSP00000406732:T2A;ENSP00000359657:T87A;ENSP00000418067:T2A;ENSP00000218789:T2A;ENSP00000364888:T2A;ENSP00000420592:T2A;ENSP00000397068:T2A;ENSP00000389890:T77A;ENSP00000364889:T77A;ENSP00000364875:T2A	ENSP00000218789:T2A	T	+	1	0	ARHGEF7	110668033	1.000000	0.71417	0.987000	0.45799	0.915000	0.54546	5.480000	0.66820	1.918000	0.55548	0.533000	0.62120	ACC		0.378	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		3	63	0	0	0	1	0	3	63				
DNM1P47	100216544	broad.mit.edu	37	15	102305084	102305084	+	RNA	SNP	T	T	C			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr15:102305084T>C	ENST00000561463.1	+	0	13130									DNM1 pseudogene 47																		GACATCAACATGAACACCATC	0.632																																						ENST00000561463.1																			0																																																			0							g.chr15:102305084T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305084T>C														0	13130	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	27	0	0	0	1	0	3	27				
MT-ATP6	4508	broad.mit.edu	37	M	9040	9040	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chrM:9040C>T	ENST00000361899.2	+	1	514	c.514C>T	c.(514-516)Cac>Tac	p.H172Y	MT-ND4L_ENST00000361335.1_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	172					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						ACCTACTCATGCACCTAATTG	0.443																																						ENST00000361899.2																			0				breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						c.(514-516)Cac>Tac		mitochondrially encoded ATP synthase 6																																				SO:0001583	missense	4508							g.chrM:9040C>T			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.514C>T	M.37:g.9040C>T	ENSP00000354632:p.His172Tyr						p.H172Y							1	514	+								Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	ENST00000361899.2	37	c.514C>T																																																																																					0.443	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024031		2	1	0	0	0	1	0	2	1				
DMBT1	1755	broad.mit.edu	37	10	124336139	124336139	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr10:124336139C>T	ENST00000338354.3	+	7	614	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	DMBT1_ENST00000359586.6_Missense_Mutation_p.R170C|DMBT1_ENST00000368909.3_Missense_Mutation_p.R170C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R170C|DMBT1_ENST00000330163.4_Missense_Mutation_p.R170C|DMBT1_ENST00000368956.2_Missense_Mutation_p.R170C|DMBT1_ENST00000368955.3_Missense_Mutation_p.R170C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	170	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGATGATGTGCGCTGCTCAGG	0.587																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(508-510)Cgc>Tgc		deleted in malignant brain tumors 1							147.0	143.0	145.0					10																	124336139		2068	4243	6311	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124336139C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.508C>T	10.37:g.124336139C>T	ENSP00000342210:p.Arg170Cys					DMBT1_ENST00000368955.3_Missense_Mutation_p.R170C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R170C|DMBT1_ENST00000359586.6_Missense_Mutation_p.R170C|DMBT1_ENST00000330163.4_Missense_Mutation_p.R170C|DMBT1_ENST00000368956.2_Missense_Mutation_p.R170C|DMBT1_ENST00000338354.3_Missense_Mutation_p.R170C	p.R170C	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			7	614	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	170			SRCR 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.508C>T		.	.	.	.	.	.	.	.	.	.	c	14.36	2.513656	0.44763	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.63	-5.58	0.02512	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.895030	0.03666	U	0.243313	T	0.70168	0.3193	M	0.92880	3.355	0.09310	N	1	B;D;P;D;D;D	0.89917	0.405;0.999;0.954;0.998;0.997;1.0	B;D;P;P;P;D	0.74023	0.04;0.931;0.592;0.627;0.804;0.982	T	0.71006	-0.4717	10	0.52906	T	0.07	.	12.8229	0.57704	0.3295:0.1672:0.5033:0.0	.	170;170;170;170;170;170	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	C	170	ENSP00000342210:R170C;ENSP00000343175:R170C;ENSP00000327747:R170C;ENSP00000357905:R170C;ENSP00000357951:R170C;ENSP00000357952:R170C;ENSP00000352593:R170C	ENSP00000331522:R170C	R	+	1	0	DMBT1	124326129	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.709000	0.00056	-1.523000	0.01767	-0.176000	0.13171	CGC		0.587	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		5	217	0	0	0	1	0	5	217				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000564451.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000567960.1_RNA								0	1255	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	39	0	0	0	1	0	3	39				
MAGI3	260425	broad.mit.edu	37	1	114137161	114137161	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr1:114137161C>A	ENST00000307546.9	+	6	1072	c.997C>A	c.(997-999)Cct>Act	p.P333T	MAGI3_ENST00000369617.4_Missense_Mutation_p.P333T|MAGI3_ENST00000369615.1_Missense_Mutation_p.P333T|MAGI3_ENST00000369611.4_Missense_Mutation_p.P333T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	333					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCCAAAGCCCCTGAAGACTG	0.368																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(997-999)Cct>Act		membrane associated guanylate kinase, WW and PDZ domain containing 3							100.0	104.0	102.0					1																	114137161		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114137161C>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.997C>A	1.37:g.114137161C>A	ENSP00000304604:p.Pro333Thr					MAGI3_ENST00000369611.4_Missense_Mutation_p.P333T|MAGI3_ENST00000369617.4_Missense_Mutation_p.P333T|MAGI3_ENST00000307546.9_Missense_Mutation_p.P333T	p.P333T	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1059	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	333					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.997C>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683308	0.88542	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.20332	2.33;2.08;2.31;2.31	5.53	5.53	0.82687	.	0.049103	0.85682	D	0.000000	T	0.37237	0.0996	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.982;0.996	T	0.13388	-1.0511	10	0.87932	D	0	-17.557	19.4668	0.94946	0.0:1.0:0.0:0.0	.	333;333;333	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	T	333	ENSP00000358630:P333T;ENSP00000304604:P333T;ENSP00000358628:P333T;ENSP00000358624:P333T	ENSP00000304604:P333T	P	+	1	0	MAGI3	113938684	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.613000	0.88420	0.585000	0.79938	CCT		0.368	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	115	1	0	0.184627	1	0.18913	4	115				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			2	8	0	0	0	1	0	2	8				
GLI2	2736	broad.mit.edu	37	2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A	rs540240518		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr2:121708835G>A	ENST00000452319.1	+	4	331	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCCTCAGCGGCAGCCCTGT	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17960	0.0		0.0	False		,,,				2504	0.0					ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(271-273)Ggc>Agc		GLI family zinc finger 2							98.0	111.0	107.0					2																	121708835		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121708835G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.271G>A	2.37:g.121708835G>A	ENSP00000390436:p.Gly91Ser					GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR	p.G91S			P10070	GLI2_HUMAN			4	331	+	Renal(3;0.0496)	Prostate(154;0.0623)	91						Missense_Mutation	SNP	ENST00000452319.1	37	c.271G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043608	0.75732	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.41400	1.0;1.0	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.958;0.967;0.955	T	0.40496	-0.9560	10	0.05525	T	0.97	.	19.1082	0.93305	0.0:0.0:1.0:0.0	.	91;91;91	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	S	91	ENSP00000390436:G91S;ENSP00000354586:G91S	ENSP00000354586:G91S	G	+	1	0	GLI2	121425305	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.611000	0.74183	2.751000	0.94390	0.555000	0.69702	GGC		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		6	194	0	0	0	1	0	6	194				
MIR1324	100302212	broad.mit.edu	37	3	75679970	75679970	+	RNA	SNP	G	G	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr3:75679970G>T	ENST00000408868.1	+	0	57					NR_031714.1				microRNA 1324																		CTTCCCTCTGGGTACCAGACA	0.507																																						ENST00000408868.1																			0																				77.0	76.0	76.0					3																	75679970		1568	3578	5146			0							g.chr3:75679970G>T			3	2011-09-12		2008-12-18	ENSG00000221795	ENSG00000221795		"""ncRNAs / Micro RNAs"""	35377	non-coding RNA	RNA, micro				MIRN1324			Standard	NR_031714		Approved	hsa-mir-1324	uc021xar.1				3.37:g.75679970G>T								NR_031714.1						0	57	+									RNA	SNP	ENST00000408868.1	37																																																																																						0.507	MIR1324-201	KNOWN	basic	miRNA	miRNA		NR_031714		7	120	1	0	0.00448238	1	0.00495421	7	120				
NRXN1	9378	broad.mit.edu	37	2	50779760	50779760	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr2:50779760C>A	ENST00000406316.2	-	9	3200	c.1724G>T	c.(1723-1725)tGg>tTg	p.W575L	NRXN1_ENST00000401669.2_Missense_Mutation_p.W575L|NRXN1_ENST00000406859.3_Missense_Mutation_p.W575L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.W567L|NRXN1_ENST00000404971.1_Missense_Mutation_p.W615L|NRXN1_ENST00000405472.3_Missense_Mutation_p.W567L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	575	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACATGATACCATTCTCCATC	0.463																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(1843-1845)tGg>tTg		neurexin 1							146.0	136.0	139.0					2																	50779760		1896	4108	6004	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50779760C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1724G>T	2.37:g.50779760C>A	ENSP00000384311:p.Trp575Leu					NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.W575L|NRXN1_ENST00000405472.3_Missense_Mutation_p.W567L|NRXN1_ENST00000401669.2_Missense_Mutation_p.W575L|NRXN1_ENST00000406859.3_Missense_Mutation_p.W575L|NRXN1_ENST00000402717.3_Missense_Mutation_p.W567L	p.W615L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		10	3183	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	575			Laminin G-like 3.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1844G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989854	0.93106	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.92097	0.7495	H	0.94964	3.605	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.985;0.999;1.0	D	0.93322	0.6693	10	0.87932	D	0	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	615;575;567	Q9ULB1-3;F8WB18;A7E294	.;.;.	L	615;575;567;575;616;567;575	ENSP00000385142:W615L;ENSP00000384311:W575L;ENSP00000434015:W567L;ENSP00000385017:W575L;ENSP00000385434:W567L;ENSP00000385681:W575L	ENSP00000385017:W575L	W	-	2	0	NRXN1	50633264	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.764000	0.85297	2.814000	0.96858	0.591000	0.81541	TGG		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			5	155	1	0	0.184627	1	0.18913	5	155				
LBP	3929	broad.mit.edu	37	20	37002620	37002620	+	Missense_Mutation	SNP	G	G	A	rs544709874		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr20:37002620G>A	ENST00000217407.2	+	14	1525	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	455					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGCTGAAGCGTGTTCAGCTC	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		20557	0.001		0.0	False		,,,				2504	0.0					ENST00000217407.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(1363-1365)cGt>cAt		lipopolysaccharide binding protein							93.0	85.0	88.0					20																	37002620		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:37002620G>A		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.1364G>A	20.37:g.37002620G>A	ENSP00000217407:p.Arg455His						p.R455H	NM_004139.3	NP_004130.2	P18428	LBP_HUMAN			14	1525	+		Myeloproliferative disorder(115;0.00878)	455					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.1364G>A	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.599005	0.00125	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.06528	3.29	5.01	-10.0	0.00425	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.482540	0.03811	N	0.265874	T	0.03827	0.0108	N	0.03000	-0.44	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.52895	-0.8514	10	0.25751	T	0.34	5.3301	22.978	0.99978	0.222:0.0:0.778:0.0	.	455	P18428	LBP_HUMAN	H	455	ENSP00000217407:R455H	ENSP00000217407:R455H	R	+	2	0	LBP	36436034	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.634000	0.00869	-3.973000	0.00085	-1.084000	0.02203	CGT		0.488	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		28	79	0	0	0	1	0	28	79				
ARMCX3	51566	broad.mit.edu	37	X	100880307	100880307	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chrX:100880307C>A	ENST00000341189.4	+	5	1204	c.338C>A	c.(337-339)tCa>tAa	p.S113*	ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.S113*|ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.S113*|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	113					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCCCCCAATTCAGATGATACC	0.527																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(337-339)tCa>tAa		armadillo repeat containing, X-linked 3							60.0	55.0	56.0					X																	100880307		2202	4299	6501	SO:0001587	stop_gained	51566					integral to membrane	binding	g.chrX:100880307C>A	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.338C>A	X.37:g.100880307C>A	ENSP00000340672:p.Ser113*					ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.S113*|ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.S113*	p.S113*	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1204	+			113					Q53HC6|Q7LCF5|Q9NPE4	Nonsense_Mutation	SNP	ENST00000341189.4	37	c.338C>A	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	C	38	7.008815	0.97998	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	.	.	.	4.08	4.08	0.47627	.	0.333185	0.23211	N	0.050664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.8572	10.7694	0.46314	0.0:1.0:0.0:0.0	.	.	.	.	X	113	.	.	S	+	2	0	ARMCX3	100766963	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.018000	0.49625	2.305000	0.77605	0.523000	0.50628	TCA		0.527	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		13	108	1	0	5.50884e-06	1	6.42698e-06	13	108				
KRTAP9-4	85280	broad.mit.edu	37	17	39406130	39406130	+	Missense_Mutation	SNP	G	G	A	rs201060748		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr17:39406130G>A	ENST00000334109.2	+	1	192	c.158G>A	c.(157-159)cGc>cAc	p.R53H		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	53	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)		p.R53H(4)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTTGCTGCCGCCCAACTTGC	0.642													.|||	1	0.000199681	0.0	0.0	5008	,	,		19351	0.0		0.001	False		,,,				2504	0.0					ENST00000334109.2																			4	Substitution - Missense(4)	p.R53H(4)	lung(3)|upper_aerodigestive_tract(1)	breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(157-159)cGc>cAc		keratin associated protein 9-4							60.0	49.0	53.0					17																	39406130		2203	4299	6502	SO:0001583	missense	85280					keratin filament		g.chr17:39406130G>A	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.158G>A	17.37:g.39406130G>A	ENSP00000334922:p.Arg53His						p.R53H	NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	192	+		Breast(137;0.000496)	53			15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Missense_Mutation	SNP	ENST00000334109.2	37	c.158G>A	CCDS11386.1	.	.	.	.	.	.	.	.	.	.	.	2.344	-0.350422	0.05173	.	.	ENSG00000241595	ENST00000334109	T	0.01099	5.34	2.57	-5.14	0.02875	.	.	.	.	.	T	0.01254	0.0041	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39099	-0.9630	9	0.40728	T	0.16	.	2.8899	0.05673	0.2815:0.2222:0.4039:0.0924	.	53	Q9BYQ2	KRA94_HUMAN	H	53	ENSP00000334922:R53H	ENSP00000334922:R53H	R	+	2	0	KRTAP9-4	36659656	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.235000	0.01202	-3.785000	0.00107	-2.699000	0.00136	CGC		0.642	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			6	141	0	0	0	1	0	6	141				
MUC17	140453	broad.mit.edu	37	7	100681033	100681033	+	Silent	SNP	G	G	A	rs368015481	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr7:100681033G>A	ENST00000306151.4	+	3	6400	c.6336G>A	c.(6334-6336)acG>acA	p.T2112T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2112	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCACGCCGGTGGCCA	0.498													G|||	3	0.000599042	0.0	0.0	5008	,	,		25736	0.002		0.001	False		,,,				2504	0.0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6334-6336)acG>acA		mucin 17, cell surface associated		G		0,4406		0,0,2203	209.0	212.0	211.0		6336	-1.9	0.0	7		211	3,8597	819.1+/-406.8	0,3,4297	no	coding-synonymous	MUC17	NM_001040105.1		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		2112/4494	100681033	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681033G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6336G>A	7.37:g.100681033G>A							p.T2112T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6400	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2112			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6336G>A	CCDS34711.1																																																																																				0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	436	0	0	0	1	0	6	436				
CRIPAK	285464	broad.mit.edu	37	4	1388635	1388635	+	Silent	SNP	T	T	C	rs74518227	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr4:1388635T>C	ENST00000324803.4	+	1	3296	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	112					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.C112C(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGTGCCCATGTGGAGTGCCCG	0.672													N|||	258	0.0515176	0.0348	0.0548	5008	,	,		16946	0.0069		0.0507	False		,,,				2504	0.1186					ENST00000324803.4																			1	Substitution - coding silent(1)	p.C112C(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(334-336)tgT>tgC		cysteine-rich PAK1 inhibitor							189.0	145.0	160.0					4																	1388635		2203	4299	6502	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388635T>C	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.336T>C	4.37:g.1388635T>C							p.C112C	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3296	+			112					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.336T>C	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	5.811	0.333996	0.11013	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.08	0.09936	.	.	.	.	.	T	0.21427	0.0516	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.27123	-1.0083	5	0.25106	T	0.35	.	4.049	0.09786	0.3111:0.0:0.0:0.6889	.	.	.	.	R	96	.	ENSP00000372402:W96R	W	+	1	0	CRIPAK	1378635	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-1.127000	0.03251	-0.202000	0.10268	0.102000	0.15555	TGG		0.672	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		5	254	0	0	0	1	0	5	254				
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	G	T	rs199749095	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr11:320606G>T	ENST00000399808.4	-	1	444	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	70	Interaction with SPP1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P70T(3)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632																																						ENST00000399808.4																			3	Substitution - Missense(3)	p.P70T(3)	endometrium(2)|central_nervous_system(1)	central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18						c.(208-210)Ccc>Acc		interferon induced transmembrane protein 3							89.0	95.0	93.0					11																	320606		2101	4210	6311	SO:0001583	missense	10410				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		g.chr11:320606G>T	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.208C>A	11.37:g.320606G>T	ENSP00000382707:p.Pro70Thr					IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA	p.P70T	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	444	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	70			Interaction with SPP1.		Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	37	c.208C>A	CCDS41585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|G	0.076|0.076	-1.193620|-1.193620	0.01594|0.01594	.|.	.|.	ENSG00000142089|ENSG00000142089	ENST00000270031|ENST00000399808;ENST00000526811	.|T;T	.|0.78595	.|-0.94;-1.19	4.65|4.65	-9.3|-9.3	0.00649|0.00649	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54447	.|0.1859	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.32375	.|-0.9909	.|9	.|0.22109	.|T	.|0.4	.|.	2.5632|2.5632	0.04777|0.04777	0.1587:0.0951:0.2785:0.4676|0.1587:0.0951:0.2785:0.4676	.|.	.|70	.|Q01628	.|IFM3_HUMAN	.|T	-1|70;49	.|ENSP00000382707:P70T;ENSP00000432108:P49T	.|ENSP00000382707:P70T	.|P	-|-	.|1	.|0	IFITM3|IFITM3	310606|310606	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	-1.460000|-1.460000	0.02368|0.02368	-3.272000|-3.272000	0.00199|0.00199	-2.532000|-2.532000	0.00182|0.00182	.|CCC		0.632	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034		5	150	1	0	0.000978159	1	0.00112636	5	150				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	284	0	0	0	1	0	6	284				
FRY	10129	broad.mit.edu	37	13	32698958	32698958	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr13:32698958T>C	ENST00000380250.3	+	7	1158	c.662T>C	c.(661-663)aTg>aCg	p.M221T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	221						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTGGCAATATGCATATTGTG	0.438																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(661-663)aTg>aCg		furry homolog (Drosophila)							142.0	137.0	139.0					13																	32698958		1934	4145	6079	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32698958T>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.662T>C	13.37:g.32698958T>C	ENSP00000369600:p.Met221Thr						p.M221T	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	7	1158	+		Lung SC(185;0.0271)	221					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.662T>C	CCDS41875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.62|17.62	3.434827|3.434827	0.62955|0.62955	.|.	.|.	ENSG00000073910|ENSG00000073910	ENST00000267067|ENST00000380250	.|T	.|0.23147	.|1.92	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24198|0.24198	0.0586|0.0586	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|B	.|0.30634	.|0.288	.|B	.|0.25140	.|0.058	T|T	0.03344|0.03344	-1.1046|-1.1046	6|10	0.87932|0.22706	D|T	0|0.39	.|.	15.5243|15.5243	0.75890|0.75890	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|221	.|Q5TBA9	.|FRY_HUMAN	R|T	148|221	.|ENSP00000369600:M221T	ENSP00000267067:C148R|ENSP00000369600:M221T	C|M	+|+	1|2	0|0	FRY|FRY	31596958|31596958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.040000|8.040000	0.89188|0.89188	2.081000|2.081000	0.62600|0.62600	0.459000|0.459000	0.35465|0.35465	TGC|ATG		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		5	201	0	0	0	1	0	5	201				
SYNPO2L	79933	broad.mit.edu	37	10	75406952	75406952	+	Missense_Mutation	SNP	A	A	G	rs200429699		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr10:75406952A>G	ENST00000394810.2	-	4	2607	c.2458T>C	c.(2458-2460)Ttt>Ctt	p.F820L	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.F596L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	820	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TGGGGGAAAAAGGGAGAGAGC	0.577													A|||	1	0.000199681	0.0	0.0	5008	,	,		15267	0.0		0.001	False		,,,				2504	0.0					ENST00000394810.2																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2458-2460)Ttt>Ctt		synaptopodin 2-like							62.0	74.0	70.0					10																	75406952		2202	4300	6502	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406952A>G	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2458T>C	10.37:g.75406952A>G	ENSP00000378289:p.Phe820Leu					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.F596L	p.F820L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2607	-	Prostate(51;0.0112)		820			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2458T>C	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.813125	0.70912	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.22539	1.95;2.26	4.98	4.98	0.66077	.	0.119748	0.64402	D	0.000019	T	0.23766	0.0575	L	0.54323	1.7	0.44500	D	0.997447	P;P	0.45531	0.666;0.86	B;P	0.44561	0.162;0.453	T	0.03597	-1.1021	10	0.12103	T	0.63	-5.368	14.8374	0.70194	1.0:0.0:0.0:0.0	.	820;596	Q9H987;Q9H987-2	SYP2L_HUMAN;.	L	596;820	ENSP00000361964:F596L;ENSP00000378289:F820L	ENSP00000361964:F596L	F	-	1	0	SYNPO2L	75076958	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.139000	0.94554	2.090000	0.63153	0.402000	0.26972	TTT		0.577	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		3	147	0	0	0	1	0	3	147				
ADAMTS19	171019	broad.mit.edu	37	5	128863519	128863519	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr5:128863519A>T	ENST00000274487.4	+	5	1292	c.1147A>T	c.(1147-1149)Act>Tct	p.T383S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	383	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCTCCATGAAACTCCAGTAAG	0.308																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1147-1149)Act>Tct		ADAM metallopeptidase with thrombospondin type 1 motif, 19							88.0	94.0	92.0					5																	128863519		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128863519A>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1147A>T	5.37:g.128863519A>T	ENSP00000274487:p.Thr383Ser					CTC-575N7.1_ENST00000503616.1_RNA	p.T383S	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	5	1292	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	383			Peptidase M12B.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1147A>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443333	0.43429	.	.	ENSG00000145808	ENST00000274487	T	0.62639	0.01	4.41	4.41	0.53225	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.158954	0.41712	D	0.000833	T	0.35770	0.0943	N	0.03608	-0.345	0.31821	N	0.625927	B	0.19200	0.034	B	0.26310	0.068	T	0.38156	-0.9674	9	.	.	.	.	9.5679	0.39409	0.7405:0.0:0.0:0.2595	.	383	Q8TE59	ATS19_HUMAN	S	383	ENSP00000274487:T383S	.	T	+	1	0	ADAMTS19	128891418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.529000	0.53532	2.209000	0.71365	0.460000	0.39030	ACT		0.308	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		48	79	0	0	0	1	0	48	79				
MUC17	140453	broad.mit.edu	37	7	100681033	100681033	+	Silent	SNP	G	G	A	rs368015481	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr7:100681033G>A	ENST00000306151.4	+	3	6400	c.6336G>A	c.(6334-6336)acG>acA	p.T2112T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2112	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCACGCCGGTGGCCA	0.498													G|||	3	0.000599042	0.0	0.0	5008	,	,		25736	0.002		0.001	False		,,,				2504	0.0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6334-6336)acG>acA		mucin 17, cell surface associated		G		0,4406		0,0,2203	209.0	212.0	211.0		6336	-1.9	0.0	7		211	3,8597	819.1+/-406.8	0,3,4297	no	coding-synonymous	MUC17	NM_001040105.1		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		2112/4494	100681033	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681033G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6336G>A	7.37:g.100681033G>A							p.T2112T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6400	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2112			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6336G>A	CCDS34711.1																																																																																				0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	436	0	0	0	1	0	6	436				
YY2	404281	broad.mit.edu	37	X	21875408	21875408	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chrX:21875408C>T	ENST00000429584.2	+	1	1304	c.806C>T	c.(805-807)gCc>gTc	p.A269V	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	269	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CGGGATTACGCCGCCATGAGA	0.498																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(805-807)gCc>gTc		YY2 transcription factor							122.0	123.0	122.0					X																	21875408		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875408C>T	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.806C>T	X.37:g.21875408C>T	ENSP00000389381:p.Ala269Val					MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR	p.A269V	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	1304	+			269			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.806C>T	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	C	9.218	1.032576	0.19590	.	.	ENSG00000230797	ENST00000429584	T	0.10382	2.88	4.52	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061473	0.64402	U	0.000002	T	0.08980	0.0222	L	0.29908	0.895	0.09310	N	1	B	0.27316	0.175	B	0.24701	0.055	T	0.21999	-1.0229	10	0.87932	D	0	.	13.0524	0.58962	0.0:0.5116:0.4884:0.0	.	269	O15391	TYY2_HUMAN	V	269	ENSP00000389381:A269V	ENSP00000389381:A269V	A	+	2	0	YY2	21785329	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	2.107000	0.41844	0.104000	0.17725	-0.202000	0.12741	GCC		0.498	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		5	310	0	0	0	1	0	5	310				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	70	0	0	0	1	0	5	70				
AMBP	259	broad.mit.edu	37	9	116839008	116839008	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr9:116839008A>C	ENST00000265132.3	-	2	392	c.130T>G	c.(130-132)Tgg>Ggg	p.W44G		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	44					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGGTTGTACCACTTCCCATAG	0.597																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(130-132)Tgg>Ggg		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						110.0	78.0	89.0					9																	116839008		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116839008A>C	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.130T>G	9.37:g.116839008A>C	ENSP00000265132:p.Trp44Gly						p.W44G	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			2	392	-			44					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.130T>G	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995141	0.54147	.	.	ENSG00000106927	ENST00000265132	D	0.99557	-6.16	3.86	3.86	0.44501	Lipocalin conserved site (1);Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98797	1.0738	10	0.59425	D	0.04	.	8.9958	0.36052	1.0:0.0:0.0:0.0	.	44	P02760	AMBP_HUMAN	G	44	ENSP00000265132:W44G	ENSP00000265132:W44G	W	-	1	0	AMBP	115878829	1.000000	0.71417	0.969000	0.41365	0.962000	0.63368	5.463000	0.66712	1.624000	0.50355	0.459000	0.35465	TGG		0.597	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		19	49	0	0	0	1	0	19	49				
MYH7B	57644	broad.mit.edu	37	20	33578552	33578552	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr20:33578552C>A	ENST00000262873.7	+	21	2207	c.2115C>A	c.(2113-2115)aaC>aaA	p.N705K	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	663	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGAACCTCAACAAGCTGATGA	0.607																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2113-2115)aaC>aaA		myosin, heavy chain 7B, cardiac muscle, beta							58.0	66.0	63.0					20																	33578552		2098	4219	6317	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33578552C>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2115C>A	20.37:g.33578552C>A	ENSP00000262873:p.Asn705Lys						p.N705K	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		21	2207	+			663			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2115C>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877210	0.51801	.	.	ENSG00000078814	ENST00000262873	D	0.87103	-2.21	3.8	3.8	0.43715	Myosin head, motor domain (2);	0.000000	0.41396	D	0.000883	D	0.86096	0.5851	M	0.80332	2.49	0.47441	D	0.999425	B	0.29341	0.242	B	0.27796	0.083	D	0.86794	0.1987	10	0.87932	D	0	.	10.624	0.45497	0.0:0.9094:0.0:0.0906	.	663	A7E2Y1	MYH7B_HUMAN	K	705	ENSP00000262873:N705K	ENSP00000262873:N705K	N	+	3	2	MYH7B	33042213	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.573000	0.36472	2.422000	0.82143	0.561000	0.74099	AAC		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		4	68	1	0	0.150653	1	0.163567	4	68				
PLXNA1	5361	broad.mit.edu	37	3	126730864	126730864	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr3:126730864A>C	ENST00000393409.2	+	9	2176	c.2176A>C	c.(2176-2178)Acc>Ccc	p.T726P	PLXNA1_ENST00000251772.4_Missense_Mutation_p.T703P	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	726					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.T703P(2)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AAAACCCATCACCCTGGCCGC	0.652																																						ENST00000251772.4																			2	Substitution - Missense(2)	p.T703P(2)	lung(1)|central_nervous_system(1)	breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2107-2109)Acc>Ccc		plexin A1							85.0	78.0	80.0					3																	126730864		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126730864A>C	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2176A>C	3.37:g.126730864A>C	ENSP00000377061:p.Thr726Pro					PLXNA1_ENST00000393409.2_Missense_Mutation_p.T726P	p.T703P			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	9	2176	+			726						Missense_Mutation	SNP	ENST00000393409.2	37	c.2107A>C	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	A	14.87	2.663159	0.47572	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11063	2.81;2.81	3.87	3.87	0.44632	.	0.092739	0.45606	D	0.000357	T	0.35393	0.0930	M	0.86178	2.8	0.50632	D	0.999887	D	0.89917	1.0	D	0.83275	0.996	T	0.30621	-0.9972	10	0.59425	D	0.04	.	12.8542	0.57876	1.0:0.0:0.0:0.0	.	726	Q9UIW2	PLXA1_HUMAN	P	726;703	ENSP00000377061:T726P;ENSP00000251772:T703P	ENSP00000251772:T703P	T	+	1	0	PLXNA1	128213554	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	4.282000	0.58971	1.633000	0.50488	0.402000	0.26972	ACC		0.652	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		6	73	0	0	0	1	0	6	73				
GPLD1	2822	broad.mit.edu	37	6	24446031	24446031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr6:24446031C>A	ENST00000230036.1	-	19	1959	c.1849G>T	c.(1849-1851)Gag>Tag	p.E617*		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	617					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTCTTTTTCTCATCTCGGATG	0.532																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(1849-1851)Gag>Tag		glycosylphosphatidylinositol specific phospholipase D1							112.0	111.0	111.0					6																	24446031		2203	4300	6503	SO:0001587	stop_gained	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24446031C>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1849G>T	6.37:g.24446031C>A	ENSP00000230036:p.Glu617*						p.E617*	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			19	1959	-			617					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Nonsense_Mutation	SNP	ENST00000230036.1	37	c.1849G>T	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	35	5.555615	0.96514	.	.	ENSG00000112293	ENST00000230036	.	.	.	5.49	4.62	0.57501	.	0.478268	0.20745	N	0.086463	.	.	.	.	.	.	0.24283	N	0.995196	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-12.6895	11.0533	0.47903	0.0:0.8494:0.0:0.1506	.	.	.	.	X	617	.	ENSP00000230036:E617X	E	-	1	0	GPLD1	24554010	0.009000	0.17119	0.015000	0.15790	0.404000	0.30871	1.849000	0.39318	1.301000	0.44836	0.655000	0.94253	GAG		0.532	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		4	105	1	0	1	1	1	4	105				
ARHGEF7	8874	broad.mit.edu	37	13	111870032	111870032	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr13:111870032A>G	ENST00000375741.2	+	6	788	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.T87A|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.T130A|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.T159A|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.T2A|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.T77A|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.T2A|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.T2A	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	180					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTAGGACATGACCGATAATAG	0.378																																						ENST00000375741.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(538-540)Acc>Gcc		Rho guanine nucleotide exchange factor (GEF) 7							109.0	104.0	105.0					13																	111870032		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111870032A>G	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.538A>G	13.37:g.111870032A>G	ENSP00000364893:p.Thr180Ala					ARHGEF7_ENST00000317133.5_Missense_Mutation_p.T159A|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.T130A|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.T77A|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.T2A|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.T87A	p.T180A	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		6	788	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		180					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.538A>G	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.377007	0.61735	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000449979;ENST00000370623;ENST00000545635;ENST00000491775;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000467053;ENST00000426073;ENST00000426768;ENST00000375737;ENST00000375723	T;T;T;T;D;T;T;T;T;T;T;T;T	0.94828	0.65;0.65;0.65;0.9;-3.53;0.7;0.68;0.71;0.7;0.71;0.89;0.67;0.65	4.82	4.82	0.62117	.	0.054190	0.64402	D	0.000001	D	0.90246	0.6950	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.25521	0.021;0.121;0.025;0.128	B;B;B;B	0.25759	0.014;0.063;0.034;0.06	D	0.88542	0.3110	10	0.66056	D	0.02	.	14.697	0.69129	1.0:0.0:0.0:0.0	.	77;130;180;159	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	A	159;180;130;2;87;157;2;2;2;2;2;2;77;77;2	ENSP00000325994:T159A;ENSP00000364893:T180A;ENSP00000364891:T130A;ENSP00000406732:T2A;ENSP00000359657:T87A;ENSP00000418067:T2A;ENSP00000218789:T2A;ENSP00000364888:T2A;ENSP00000420592:T2A;ENSP00000397068:T2A;ENSP00000389890:T77A;ENSP00000364889:T77A;ENSP00000364875:T2A	ENSP00000218789:T2A	T	+	1	0	ARHGEF7	110668033	1.000000	0.71417	0.987000	0.45799	0.915000	0.54546	5.480000	0.66820	1.918000	0.55548	0.533000	0.62120	ACC		0.378	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		3	63	0	0	0	1	0	3	63				
DNM1P47	100216544	broad.mit.edu	37	15	102305084	102305084	+	RNA	SNP	T	T	C			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr15:102305084T>C	ENST00000561463.1	+	0	13130									DNM1 pseudogene 47																		GACATCAACATGAACACCATC	0.632																																						ENST00000561463.1																			0																																																			0							g.chr15:102305084T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305084T>C														0	13130	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	27	0	0	0	1	0	3	27				
MT-ATP6	4508	broad.mit.edu	37	M	9040	9040	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chrM:9040C>T	ENST00000361899.2	+	1	514	c.514C>T	c.(514-516)Cac>Tac	p.H172Y	MT-ND4L_ENST00000361335.1_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	172					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						ACCTACTCATGCACCTAATTG	0.443																																						ENST00000361899.2																			0				breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						c.(514-516)Cac>Tac		mitochondrially encoded ATP synthase 6																																				SO:0001583	missense	4508							g.chrM:9040C>T			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.514C>T	M.37:g.9040C>T	ENSP00000354632:p.His172Tyr						p.H172Y							1	514	+								Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	ENST00000361899.2	37	c.514C>T																																																																																					0.443	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024031		2	1	0	0	0	1	0	2	1				
DMBT1	1755	broad.mit.edu	37	10	124336139	124336139	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr10:124336139C>T	ENST00000338354.3	+	7	614	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	DMBT1_ENST00000359586.6_Missense_Mutation_p.R170C|DMBT1_ENST00000368909.3_Missense_Mutation_p.R170C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R170C|DMBT1_ENST00000330163.4_Missense_Mutation_p.R170C|DMBT1_ENST00000368956.2_Missense_Mutation_p.R170C|DMBT1_ENST00000368955.3_Missense_Mutation_p.R170C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	170	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGATGATGTGCGCTGCTCAGG	0.587																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(508-510)Cgc>Tgc		deleted in malignant brain tumors 1							147.0	143.0	145.0					10																	124336139		2068	4243	6311	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124336139C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.508C>T	10.37:g.124336139C>T	ENSP00000342210:p.Arg170Cys					DMBT1_ENST00000359586.6_Missense_Mutation_p.R170C|DMBT1_ENST00000368956.2_Missense_Mutation_p.R170C|DMBT1_ENST00000330163.4_Missense_Mutation_p.R170C|DMBT1_ENST00000368955.3_Missense_Mutation_p.R170C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R170C|DMBT1_ENST00000338354.3_Missense_Mutation_p.R170C	p.R170C	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			7	614	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	170			SRCR 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.508C>T		.	.	.	.	.	.	.	.	.	.	c	14.36	2.513656	0.44763	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.63	-5.58	0.02512	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.895030	0.03666	U	0.243313	T	0.70168	0.3193	M	0.92880	3.355	0.09310	N	1	B;D;P;D;D;D	0.89917	0.405;0.999;0.954;0.998;0.997;1.0	B;D;P;P;P;D	0.74023	0.04;0.931;0.592;0.627;0.804;0.982	T	0.71006	-0.4717	10	0.52906	T	0.07	.	12.8229	0.57704	0.3295:0.1672:0.5033:0.0	.	170;170;170;170;170;170	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	C	170	ENSP00000342210:R170C;ENSP00000343175:R170C;ENSP00000327747:R170C;ENSP00000357905:R170C;ENSP00000357951:R170C;ENSP00000357952:R170C;ENSP00000352593:R170C	ENSP00000331522:R170C	R	+	1	0	DMBT1	124326129	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.709000	0.00056	-1.523000	0.01767	-0.176000	0.13171	CGC		0.587	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		5	217	0	0	0	1	0	5	217				
MAGI3	260425	broad.mit.edu	37	1	114137161	114137161	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr1:114137161C>A	ENST00000307546.9	+	6	1072	c.997C>A	c.(997-999)Cct>Act	p.P333T	MAGI3_ENST00000369617.4_Missense_Mutation_p.P333T|MAGI3_ENST00000369615.1_Missense_Mutation_p.P333T|MAGI3_ENST00000369611.4_Missense_Mutation_p.P333T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	333					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCCAAAGCCCCTGAAGACTG	0.368																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(997-999)Cct>Act		membrane associated guanylate kinase, WW and PDZ domain containing 3							100.0	104.0	102.0					1																	114137161		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114137161C>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.997C>A	1.37:g.114137161C>A	ENSP00000304604:p.Pro333Thr					MAGI3_ENST00000307546.9_Missense_Mutation_p.P333T|MAGI3_ENST00000369617.4_Missense_Mutation_p.P333T|MAGI3_ENST00000369611.4_Missense_Mutation_p.P333T	p.P333T	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1059	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	333					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.997C>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683308	0.88542	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.20332	2.33;2.08;2.31;2.31	5.53	5.53	0.82687	.	0.049103	0.85682	D	0.000000	T	0.37237	0.0996	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.982;0.996	T	0.13388	-1.0511	10	0.87932	D	0	-17.557	19.4668	0.94946	0.0:1.0:0.0:0.0	.	333;333;333	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	T	333	ENSP00000358630:P333T;ENSP00000304604:P333T;ENSP00000358628:P333T;ENSP00000358624:P333T	ENSP00000304604:P333T	P	+	1	0	MAGI3	113938684	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.613000	0.88420	0.585000	0.79938	CCT		0.368	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	115	1	0	0.184627	1	0.189617	4	115				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			2	8	0	0	0	1	0	2	8				
GLI2	2736	broad.mit.edu	37	2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A	rs540240518		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr2:121708835G>A	ENST00000452319.1	+	4	331	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCCTCAGCGGCAGCCCTGT	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17960	0.0		0.0	False		,,,				2504	0.0					ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(271-273)Ggc>Agc		GLI family zinc finger 2							98.0	111.0	107.0					2																	121708835		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121708835G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.271G>A	2.37:g.121708835G>A	ENSP00000390436:p.Gly91Ser					GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR	p.G91S			P10070	GLI2_HUMAN			4	331	+	Renal(3;0.0496)	Prostate(154;0.0623)	91						Missense_Mutation	SNP	ENST00000452319.1	37	c.271G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043608	0.75732	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.41400	1.0;1.0	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.958;0.967;0.955	T	0.40496	-0.9560	10	0.05525	T	0.97	.	19.1082	0.93305	0.0:0.0:1.0:0.0	.	91;91;91	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	S	91	ENSP00000390436:G91S;ENSP00000354586:G91S	ENSP00000354586:G91S	G	+	1	0	GLI2	121425305	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.611000	0.74183	2.751000	0.94390	0.555000	0.69702	GGC		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		6	194	0	0	0	1	0	6	194				
MIR1324	100302212	broad.mit.edu	37	3	75679970	75679970	+	RNA	SNP	G	G	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr3:75679970G>T	ENST00000408868.1	+	0	57					NR_031714.1				microRNA 1324																		CTTCCCTCTGGGTACCAGACA	0.507																																						ENST00000408868.1																			0																				77.0	76.0	76.0					3																	75679970		1568	3578	5146			0							g.chr3:75679970G>T			3	2011-09-12		2008-12-18	ENSG00000221795	ENSG00000221795		"""ncRNAs / Micro RNAs"""	35377	non-coding RNA	RNA, micro				MIRN1324			Standard	NR_031714		Approved	hsa-mir-1324	uc021xar.1				3.37:g.75679970G>T								NR_031714.1						0	57	+									RNA	SNP	ENST00000408868.1	37																																																																																						0.507	MIR1324-201	KNOWN	basic	miRNA	miRNA		NR_031714		7	120	1	0	0.00448238	1	0.00500972	7	120				
NRXN1	9378	broad.mit.edu	37	2	50779760	50779760	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr2:50779760C>A	ENST00000406316.2	-	9	3200	c.1724G>T	c.(1723-1725)tGg>tTg	p.W575L	NRXN1_ENST00000401669.2_Missense_Mutation_p.W575L|NRXN1_ENST00000406859.3_Missense_Mutation_p.W575L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.W567L|NRXN1_ENST00000404971.1_Missense_Mutation_p.W615L|NRXN1_ENST00000405472.3_Missense_Mutation_p.W567L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	575	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACATGATACCATTCTCCATC	0.463																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(1843-1845)tGg>tTg		neurexin 1							146.0	136.0	139.0					2																	50779760		1896	4108	6004	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50779760C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1724G>T	2.37:g.50779760C>A	ENSP00000384311:p.Trp575Leu					NRXN1_ENST00000401669.2_Missense_Mutation_p.W575L|NRXN1_ENST00000406316.2_Missense_Mutation_p.W575L|NRXN1_ENST00000402717.3_Missense_Mutation_p.W567L|NRXN1_ENST00000406859.3_Missense_Mutation_p.W575L|NRXN1_ENST00000405472.3_Missense_Mutation_p.W567L|NRXN1_ENST00000331040.5_5'UTR	p.W615L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		10	3183	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	575			Laminin G-like 3.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1844G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989854	0.93106	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.92097	0.7495	H	0.94964	3.605	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.985;0.999;1.0	D	0.93322	0.6693	10	0.87932	D	0	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	615;575;567	Q9ULB1-3;F8WB18;A7E294	.;.;.	L	615;575;567;575;616;567;575	ENSP00000385142:W615L;ENSP00000384311:W575L;ENSP00000434015:W567L;ENSP00000385017:W575L;ENSP00000385434:W567L;ENSP00000385681:W575L	ENSP00000385017:W575L	W	-	2	0	NRXN1	50633264	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.764000	0.85297	2.814000	0.96858	0.591000	0.81541	TGG		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			5	155	1	0	0.184627	1	0.189617	5	155				
LBP	3929	broad.mit.edu	37	20	37002620	37002620	+	Missense_Mutation	SNP	G	G	A	rs544709874		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr20:37002620G>A	ENST00000217407.2	+	14	1525	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	455					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGCTGAAGCGTGTTCAGCTC	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		20557	0.001		0.0	False		,,,				2504	0.0					ENST00000217407.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(1363-1365)cGt>cAt		lipopolysaccharide binding protein							93.0	85.0	88.0					20																	37002620		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:37002620G>A		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.1364G>A	20.37:g.37002620G>A	ENSP00000217407:p.Arg455His						p.R455H	NM_004139.3	NP_004130.2	P18428	LBP_HUMAN			14	1525	+		Myeloproliferative disorder(115;0.00878)	455					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.1364G>A	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.599005	0.00125	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.06528	3.29	5.01	-10.0	0.00425	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.482540	0.03811	N	0.265874	T	0.03827	0.0108	N	0.03000	-0.44	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.52895	-0.8514	10	0.25751	T	0.34	5.3301	22.978	0.99978	0.222:0.0:0.778:0.0	.	455	P18428	LBP_HUMAN	H	455	ENSP00000217407:R455H	ENSP00000217407:R455H	R	+	2	0	LBP	36436034	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.634000	0.00869	-3.973000	0.00085	-1.084000	0.02203	CGT		0.488	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		28	79	0	0	0	1	0	28	79				
ARMCX3	51566	broad.mit.edu	37	X	100880307	100880307	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chrX:100880307C>A	ENST00000341189.4	+	5	1204	c.338C>A	c.(337-339)tCa>tAa	p.S113*	ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.S113*|ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.S113*|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	113					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCCCCCAATTCAGATGATACC	0.527																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(337-339)tCa>tAa		armadillo repeat containing, X-linked 3							60.0	55.0	56.0					X																	100880307		2202	4299	6501	SO:0001587	stop_gained	51566					integral to membrane	binding	g.chrX:100880307C>A	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.338C>A	X.37:g.100880307C>A	ENSP00000340672:p.Ser113*					ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.S113*|ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.S113*	p.S113*	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1204	+			113					Q53HC6|Q7LCF5|Q9NPE4	Nonsense_Mutation	SNP	ENST00000341189.4	37	c.338C>A	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	C	38	7.008815	0.97998	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	.	.	.	4.08	4.08	0.47627	.	0.333185	0.23211	N	0.050664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.8572	10.7694	0.46314	0.0:1.0:0.0:0.0	.	.	.	.	X	113	.	.	S	+	2	0	ARMCX3	100766963	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.018000	0.49625	2.305000	0.77605	0.523000	0.50628	TCA		0.527	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		13	108	1	0	5.50884e-06	1	6.75277e-06	13	108				
ABCC10	89845	broad.mit.edu	37	6	43415125	43415125	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr6:43415125A>C	ENST00000372530.4	+	17	3899	c.3684A>C	c.(3682-3684)gaA>gaC	p.E1228D	ABCC10_ENST00000244533.3_Missense_Mutation_p.E1200D	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1228					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGCCCCAGGAACCCCAGGGCC	0.632																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3598-3600)gaA>gaC		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							35.0	38.0	37.0					6																	43415125		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415125A>C	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3684A>C	6.37:g.43415125A>C	ENSP00000361608:p.Glu1228Asp					ABCC10_ENST00000372530.4_Missense_Mutation_p.E1228D	p.E1200D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		15	3959	+	all_lung(25;0.00536)		1228			ABC transmembrane type-1 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3600A>C	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455118	0.84209	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.94417	-3.42;-3.42	5.22	3.14	0.36123	.	0.160266	0.42964	D	0.000625	D	0.94905	0.8353	M	0.66378	2.025	0.58432	D	0.999995	D;D	0.76494	0.999;0.965	D;P	0.72982	0.979;0.535	D	0.94112	0.7372	10	0.48119	T	0.1	-6.2539	10.3735	0.44068	0.2203:0.0:0.7797:0.0	.	1200;1228	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	D	1228;1200	ENSP00000361608:E1228D;ENSP00000244533:E1200D	ENSP00000244533:E1200D	E	+	3	2	ABCC10	43523103	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.892000	0.39748	1.166000	0.42689	-0.462000	0.05337	GAA		0.632	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		6	44	0	0	0	1	0	6	44				
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	lincRNA	INS	-	-	T	rs373675312		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708																																						ENST00000457478.1																			0																																																			0							g.chr2:2910722_2910723insT																													2.37:g.2910723_2910723dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.708	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			6	11						6	11	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			2	4						2	4	---	---	---	---
AIM1	202	broad.mit.edu	37	6	106989150	106989150	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr6:106989150delG	ENST00000535438.1	+	1	122	c.58delG	c.(58-60)ggafs	p.G20fs	AIM1_ENST00000369066.3_Intron			Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		gtcagctcttggaactgcttt	0.438																																						ENST00000535438.1																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(58-60)gafs		absent in melanoma 1							8.0	7.0	7.0					6																	106989150		854	1947	2801	SO:0001589	frameshift_variant	202						sugar binding	g.chr6:106989150delG	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000535438.1:c.58delG	6.37:g.106989150delG	ENSP00000439183:p.Gly20fs					AIM1_ENST00000369066.3_Intron	p.G20fs			Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	1	122	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	463					Q6P2P0|Q9BTM3	Frame_Shift_Del	DEL	ENST00000535438.1	37	c.58delG																																																																																					0.438	AIM1-201	KNOWN	basic	protein_coding	protein_coding				2	4						2	4	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-	rs532596157		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6673270delA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6673270delA			OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635					Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	1071	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.502	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		3	5						3	5	---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8234868	8234869	+	In_Frame_Ins	INS	-	-	GCCGCT	rs59372311|rs150979349	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr8:8234868_8234869insGCCGCT	ENST00000520004.1	-	3	1314_1315	c.1050_1051insAGCGGC	c.(1048-1053)ggcgcc>ggcAGCGGCgcc	p.349_350insGS	SGK223_ENST00000330777.4_In_Frame_Ins_p.349_350insGS			Q86YV5	SG223_HUMAN		349							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.G350_A351insSG(1)|p.G350_S351insSG(1)									GGGCTACTGGCGCCGCTGCCGC	0.653														2980	0.595048	0.7254	0.4942	5008	,	,		15838	0.629		0.3827	False		,,,				2504	0.6738				GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			2	Insertion - In frame(2)	p.G350_A351insSG(1)|p.G350_S351insSG(1)	breast(2)								c.(1048-1053)ggccag>ggAGCGGCccag																																						SO:0001652	inframe_insertion	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234868_8234869insGCCGCT																												ENST00000520004.1:c.1045_1050dupAGCGGC	8.37:g.8234869_8234874dupGCCGCT	ENSP00000428054:p.Gly348_Ser349dup					SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ	p.350_351GQ>GAAQ			Q86YV5	SG223_HUMAN			3	1314_1315	-			350					Q8N3N5	In_Frame_Ins	INS	ENST00000520004.1	37	c.1050_1051insAGCGGC	CCDS43706.1																																																																																				0.653	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			11	43						11	43	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48866910	48866910	+	Frame_Shift_Del	DEL	T	T	-	rs537061158	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr8:48866910delT	ENST00000314191.2	-	5	552	c.496delA	c.(496-498)atafs	p.I166fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.I166fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	166					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GTATCTGGTATTTTTTTTTTC	0.264								Non-homologous end-joining					|||unknown(HR)	8	0.00159744	0.0023	0.0014	5008	,	,		17272	0.0		0.003	False		,,,				2504	0.001				Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(496-498)tafs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide			,	47,343,2950		2,0,43,130,83,1412	31.0	29.0	30.0		,	5.3	1.0	8		31	117,632,6877		0,3,114,225,179,3292	no	codingComplex,codingComplex	PRKDC	NM_006904.6,NM_001081640.1	,	2,3,157,355,262,4704	A1A1,A1A2,A1R,A2A2,A2R,RR		9.8217,11.6766,10.3866	,	,	48866910	164,975,9827	1731	3983	5714	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48866910delT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.496delA	8.37:g.48866910delT	ENSP00000313420:p.Ile166fs					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.I166fs	p.I166fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			5	552	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	166					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.496delA																																																																																					0.264	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		2	4						2	4	---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs147271628|rs34427285|rs35266724|rs34222232	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.69														955	0.190695	0.1808	0.3184	5008	,	,		11493	0.0565		0.2356	False		,,,				2504	0.2055					ENST00000298532.2																			2	Deletion - In frame(2)	p.S542delS(2)	prostate(1)|central_nervous_system(1)	biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(1624-1626)del		small nuclear RNA activating complex, polypeptide 4, 190kDa																																				SO:0001651	inframe_deletion	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139277995_139277997delGCT	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1624_1626delAGC	9.37:g.139278004_139278006delGCT	ENSP00000298532:p.Ser542del						p.S542del	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	15	1992_1994	-		Myeloproliferative disorder(178;0.0511)	542						In_Frame_Del	DEL	ENST00000298532.2	37	c.1624_1626delAGC	CCDS6998.1																																																																																				0.690	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		9	13						9	13	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	68						8	68	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518687	108518689	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr13:108518687_108518689delCTG	ENST00000375915.2	-	1	394_396	c.256_258delCAG	c.(256-258)cagdel	p.Q86del		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	86	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						gccgctgcctctgctgctgctgc	0.719																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(256-258)del		family with sequence similarity 155, member A																																				SO:0001651	inframe_deletion	728215					integral to membrane	binding	g.chr13:108518687_108518689delCTG	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.256_258delCAG	13.37:g.108518696_108518698delCTG	ENSP00000365080:p.Gln86del						p.Q86del	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	394_396	-			86			Poly-Gln.		B2RUV1|B7Z334	In_Frame_Del	DEL	ENST00000375915.2	37	c.256_258delCAG	CCDS32006.1																																																																																				0.719	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		7	65						7	65	---	---	---	---
POLG	5428	broad.mit.edu	37	15	89876827	89876828	+	In_Frame_Ins	INS	-	-	TGCTGC	rs527965158|rs369920352|rs41550117|rs587781118|rs59510277	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr15:89876827_89876828insTGCTGC	ENST00000268124.5	-	2	491_492	c.158_159insGCAGCA	c.(157-159)caa>caGCAGCAa	p.53_53Q>QQQ	POLG_ENST00000442287.2_In_Frame_Ins_p.53_53Q>QQQ|POLG_ENST00000525806.1_5'Flank|RP11-217B1.2_ENST00000569473.1_RNA|RP11-217B1.2_ENST00000562356.1_RNA	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	53	Poly-Gln.				aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			gaggctgctgttgctgctgctg	0.693								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(157-159)cca>cGCAGCAca	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma																																				SO:0001652	inframe_insertion	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89876827_89876828insTGCTGC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.153_158dupGCAGCA	15.37:g.89876828_89876833dupTGCTGC	ENSP00000268124:p.GlnGln55dup					POLG_ENST00000442287.2_In_Frame_Ins_p.53_53P>RST	p.53_53P>RST	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		2	491_492	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		53			Poly-Gln.		Q8NFM2|Q92515	In_Frame_Ins	INS	ENST00000268124.5	37	c.158_159insGCAGCA	CCDS10350.1																																																																																				0.693	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		9	24						9	24	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33044257	33044259	+	In_Frame_Del	DEL	GCT	GCT	-	rs369631764		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr21:33044257_33044259delGCT	ENST00000286835.7	-	20	3279_3281	c.2897_2899delAGC	c.(2896-2901)cagcca>cca	p.Q966del	SCAF4_ENST00000434667.3_In_Frame_Del_p.Q951del|SCAF4_ENST00000399804.1_In_Frame_Del_p.Q944del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	966	Poly-Gln.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GATGGTGgtggctgctgctgctg	0.581																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2896-2901)cca>c		SR-related CTD-associated factor 4																																				SO:0001651	inframe_deletion	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044257_33044259delGCT	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2897_2899delAGC	21.37:g.33044266_33044268delGCT	ENSP00000286835:p.Gln966del					SCAF4_ENST00000399804.1_In_Frame_Del_p.QP944del|SCAF4_ENST00000434667.3_In_Frame_Del_p.QP951del	p.QP966del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	3279_3281	-			966			Poly-Gln.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	In_Frame_Del	DEL	ENST00000286835.7	37	c.2897_2899delAGC	CCDS33537.1																																																																																				0.581	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		9	214						9	214	---	---	---	---
ATXN1	6310	broad.mit.edu	37	6	16327903	16327904	+	In_Frame_Ins	INS	-	-	TGA	rs3817753		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr6:16327903_16327904insTGA	ENST00000244769.4	-	8	1574_1575	c.638_639insTCA	c.(637-639)cag>caTCAg	p.212_213insH	ATXN1_ENST00000436367.1_In_Frame_Ins_p.212_213insH	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	212	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgatgctg	0.668																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(637-639)cca>cTCAca		ataxin 1																																				SO:0001652	inframe_insertion	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327903_16327904insTGA	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.638_639insTCA	6.37:g.16327903_16327904insTGA	ENSP00000244769:p.Gln212_Gln213insHis					ATXN1_ENST00000436367.1_In_Frame_Ins_p.213_213P>LT	p.213_213P>LT	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1574_1575	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	213			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	c.638_639insTCA	CCDS34342.1																																																																																				0.668	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		8	11						8	11	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48866910	48866910	+	Frame_Shift_Del	DEL	T	T	-	rs537061158	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr8:48866910delT	ENST00000314191.2	-	5	552	c.496delA	c.(496-498)atafs	p.I166fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.I166fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	166					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GTATCTGGTATTTTTTTTTTC	0.264								Non-homologous end-joining					|||unknown(HR)	8	0.00159744	0.0023	0.0014	5008	,	,		17272	0.0		0.003	False		,,,				2504	0.001				Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(496-498)tafs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide			,	47,343,2950		2,0,43,130,83,1412	31.0	29.0	30.0		,	5.3	1.0	8		31	117,632,6877		0,3,114,225,179,3292	no	codingComplex,codingComplex	PRKDC	NM_006904.6,NM_001081640.1	,	2,3,157,355,262,4704	A1A1,A1A2,A1R,A2A2,A2R,RR		9.8217,11.6766,10.3866	,	,	48866910	164,975,9827	1731	3983	5714	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48866910delT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.496delA	8.37:g.48866910delT	ENSP00000313420:p.Ile166fs					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.I166fs	p.I166fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			5	552	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	166					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.496delA																																																																																					0.264	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		2	4						2	4	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	68						8	68	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518687	108518689	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr13:108518687_108518689delCTG	ENST00000375915.2	-	1	394_396	c.256_258delCAG	c.(256-258)cagdel	p.Q86del		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	86	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						gccgctgcctctgctgctgctgc	0.719																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(256-258)del		family with sequence similarity 155, member A																																				SO:0001651	inframe_deletion	728215					integral to membrane	binding	g.chr13:108518687_108518689delCTG	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.256_258delCAG	13.37:g.108518696_108518698delCTG	ENSP00000365080:p.Gln86del						p.Q86del	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	394_396	-			86			Poly-Gln.		B2RUV1|B7Z334	In_Frame_Del	DEL	ENST00000375915.2	37	c.256_258delCAG	CCDS32006.1																																																																																				0.719	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		7	65						7	65	---	---	---	---
KTN1-AS1	100129075	broad.mit.edu	37	14	56014150	56014151	+	RNA	INS	-	-	A	rs66533357		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr14:56014150_56014151insA	ENST00000554558.1	-	0	364							Q86SY8	KTAS1_HUMAN	KTN1 antisense RNA 1																		aacactgtctcaaaaaaaaaaa	0.46																																						ENST00000554558.1																			0																																																			0							g.chr14:56014150_56014151insA			14q22.3	2012-10-12	2012-08-15	2011-12-07	ENSG00000186615	ENSG00000186615		"""Long non-coding RNAs"""	19842	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 33"", ""KTN1 antisense RNA 1 (non-protein coding)"""	C14orf33			Standard	NR_027123		Approved		uc001xbz.2	Q86SY8	OTTHUMG00000171057		14.37:g.56014161_56014161dupA														0	364	-									RNA	INS	ENST00000554558.1	37																																																																																						0.460	KTN1-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000411452.1	NR_027123		3	4						3	4	---	---	---	---
MIR381HG	378881	broad.mit.edu	37	14	101514904	101514907	+	lincRNA	DEL	GTGT	GTGT	-			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr14:101514904_101514907delGTGT	ENST00000553692.1	+	0	28				MIR889_ENST00000401280.1_RNA|MIR487B_ENST00000385021.1_RNA|MIR381_ENST00000362150.1_RNA|MIR655_ENST00000362159.2_RNA|MIR544A_ENST00000384855.1_RNA|MIR539_ENST00000365690.2_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		CACCTCTGGGgtgtgtgtgtgtgt	0.471																																						ENST00000553692.1																			0																																																			0							g.chr14:101514904_101514907delGTGT	AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101514912_101514915delGTGT														0	28	+									RNA	DEL	ENST00000553692.1	37																																																																																						0.471	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			3	4						3	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	7						5	7	---	---	---	---
CTB-134H23.3	0	broad.mit.edu	37	16	29118702	29118704	+	RNA	DEL	AGC	AGC	-	rs374747642		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr16:29118702_29118704delAGC	ENST00000562618.1	-	0	328_330				RRN3P2_ENST00000564580.1_RNA																							GCCAGGTCCAagcagcagcagca	0.66																																						ENST00000562618.1																			0																																																			0							g.chr16:29118702_29118704delAGC																													16.37:g.29118711_29118713delAGC						RRN3P2_ENST00000564580.1_RNA								0	328_330	-									RNA	DEL	ENST00000562618.1	37																																																																																						0.660	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			2	4						2	4	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			8	17						8	17	---	---	---	---
