#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
MAGI2	9863	broad.mit.edu	37	7	77764435	77764435	+	Silent	SNP	C	C	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:77764435C>A	ENST00000354212.4	-	17	3187	c.2934G>T	c.(2932-2934)gtG>gtT	p.V978V	MAGI2_ENST00000522391.1_Silent_p.V978V|MAGI2_ENST00000419488.1_Silent_p.V964V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	978	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACTGGCCATTCACTGCTAGGA	0.502																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2932-2934)gtG>gtT		membrane associated guanylate kinase, WW and PDZ domain containing 2							250.0	196.0	214.0					7																	77764435		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77764435C>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2934G>T	7.37:g.77764435C>A						MAGI2_ENST00000419488.1_Silent_p.V964V|MAGI2_ENST00000522391.1_Silent_p.V978V	p.V978V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			17	3187	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	978			PDZ 5.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.2934G>T	CCDS5594.1																																																																																				0.502	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		31	65	1	0	1.7881e-09	1	1.99847e-09	31	65				
CREBBP	1387	broad.mit.edu	37	16	3778738	3778738	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:3778738G>A	ENST00000262367.5	-	31	7119	c.6310C>T	c.(6310-6312)Cgc>Tgc	p.R2104C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R2066C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2104					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGGCTGTGCGCTGTTTGATG	0.622			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(6310-6312)Cgc>Tgc		CREB binding protein							107.0	119.0	115.0					16																	3778738		2197	4299	6496	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3778738G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6310C>T	16.37:g.3778738G>A	ENSP00000262367:p.Arg2104Cys					CREBBP_ENST00000382070.3_Missense_Mutation_p.R2066C	p.R2104C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	7119	-		Ovarian(90;0.0266)	2104					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.6310C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	8.149	0.786905	0.16189	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.88896	-2.44;-2.34	5.11	5.11	0.69529	Nuclear receptor coactivator, CREB-bp-like, interlocking (2);Nuclear receptor coactivator, interlocking (1);	0.074441	0.53938	D	0.000053	D	0.93344	0.7878	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93784	0.7086	10	0.87932	D	0	-14.4269	12.7605	0.57361	0.0:0.0:0.7233:0.2767	.	2134;2104	Q4LE28;Q92793	.;CBP_HUMAN	C	2104;2134;2066;639	ENSP00000262367:R2104C;ENSP00000371502:R2066C	ENSP00000262367:R2104C	R	-	1	0	CREBBP	3718739	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.874000	0.56101	2.387000	0.81309	0.655000	0.94253	CGC		0.622	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		7	398	0	0	0	1	0	7	398				
FBN1	2200	broad.mit.edu	37	15	48713823	48713823	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr15:48713823G>A	ENST00000316623.5	-	62	8086	c.7631C>T	c.(7630-7632)aCt>aTt	p.T2544I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2544	EGF-like 44; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCTTCCAGGAGTGTTCTGGCA	0.527																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(7630-7632)aCt>aTt		fibrillin 1							58.0	55.0	56.0					15																	48713823		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48713823G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7631C>T	15.37:g.48713823G>A	ENSP00000325527:p.Thr2544Ile						p.T2544I	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	62	8086	-		all_lung(180;0.00279)	2544			EGF-like 44; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7631C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689379	0.88735	.	.	ENSG00000166147	ENST00000316623	D	0.92911	-3.13	6.02	6.02	0.97574	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.047186	0.85682	D	0.000000	D	0.95579	0.8563	M	0.76170	2.325	0.80722	D	1	D	0.59767	0.986	P	0.60473	0.875	D	0.94943	0.8093	10	0.56958	D	0.05	.	20.1358	0.98028	0.0:0.0:1.0:0.0	.	2544	P35555	FBN1_HUMAN	I	2544	ENSP00000325527:T2544I	ENSP00000325527:T2544I	T	-	2	0	FBN1	46501115	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.542000	0.73869	2.865000	0.98341	0.655000	0.94253	ACT		0.527	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			12	22	0	0	0	1	0	12	22				
NQO1	1728	broad.mit.edu	37	16	69752046	69752046	+	Missense_Mutation	SNP	C	C	T	rs541026990	byFrequency	TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:69752046C>T	ENST00000320623.5	-	3	794	c.283G>A	c.(283-285)Gca>Aca	p.A95T	NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	95					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	ACAAGGTCTGCGGCTTCCAGC	0.488													C|||	3	0.000599042	0.0	0.0	5008	,	,		19199	0.0		0.0	False		,,,				2504	0.0031					ENST00000320623.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10						c.(283-285)Gca>Aca		NAD(P)H dehydrogenase, quinone 1	Dicumarol(DB00266)|Menadione(DB00170)						174.0	182.0	180.0					16																	69752046		2198	4300	6498	SO:0001583	missense	1728				nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity	g.chr16:69752046C>T	M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"""diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"""	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.283G>A	16.37:g.69752046C>T	ENSP00000319788:p.Ala95Thr					NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T	p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN			3	794	-			95					B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	ENST00000320623.5	37	c.283G>A	CCDS10883.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531448	0.96446	.	.	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	6.03	5.08	0.68730	Flavodoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.992;0.996;0.999	T	0.64960	-0.6284	9	.	.	.	-7.291	15.2408	0.73468	0.0:0.9322:0.0:0.0678	.	95;95;95;95	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	T	95	ENSP00000319788:A95T;ENSP00000368335:A95T;ENSP00000368334:A95T;ENSP00000398330:A95T	.	A	-	1	0	NQO1	68309547	1.000000	0.71417	0.989000	0.46669	0.973000	0.67179	5.380000	0.66202	1.562000	0.49601	0.655000	0.94253	GCA		0.488	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			5	325	0	0	0	1	0	5	325				
KIAA0141	9812	broad.mit.edu	37	5	141305054	141305054	+	Missense_Mutation	SNP	C	C	T	rs529722497		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:141305054C>T	ENST00000432126.2	+	3	360	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C	KIAA0141_ENST00000194118.4_Missense_Mutation_p.R76C	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	76					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGTCTTCCCGTGTCTCCCC	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		18516	0.001		0.0	False		,,,				2504	0.0					ENST00000432126.2																			0				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(226-228)Cgt>Tgt		KIAA0141							195.0	146.0	163.0					5																	141305054		2203	4300	6503	SO:0001583	missense	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141305054C>T	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.226C>T	5.37:g.141305054C>T	ENSP00000396225:p.Arg76Cys					KIAA0141_ENST00000194118.4_Missense_Mutation_p.R76C	p.R76C	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	360	+		all_hematologic(541;0.118)	76					Q969R4|Q96EU9	Missense_Mutation	SNP	ENST00000432126.2	37	c.226C>T	CCDS4268.1	.	.	.	.	.	.	.	.	.	.	C	5.869	0.344522	0.11126	.	.	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.19669	2.59;2.59;2.13	4.85	3.08	0.35506	.	0.351137	0.27451	N	0.019301	T	0.20780	0.0500	M	0.62723	1.935	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.19943	-1.0290	10	0.56958	D	0.05	-0.0775	7.7561	0.28925	0.0:0.8044:0.0:0.1956	.	76	Q14154	DELE_HUMAN	C	76	ENSP00000396225:R76C;ENSP00000194118:R76C;ENSP00000422686:R76C	ENSP00000194118:R76C	R	+	1	0	KIAA0141	141285238	0.000000	0.05858	0.777000	0.31699	0.061000	0.15899	0.024000	0.13555	0.484000	0.27630	-0.467000	0.05162	CGT		0.547	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		4	155	0	0	0	1	0	4	155				
ZNF746	155061	broad.mit.edu	37	7	149174826	149174826	+	Missense_Mutation	SNP	C	C	T	rs147702038		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:149174826C>T	ENST00000340622.3	-	5	821	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	ZNF746_ENST00000458143.2_Missense_Mutation_p.A181T			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	181					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGGTCTGGGGCGGGAACTGGG	0.647																																						ENST00000340622.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(541-543)Gcc>Acc		zinc finger protein 746		C	THR/ALA,THR/ALA	0,4404		0,0,2202	15.0	18.0	17.0		541,541	4.9	1.0	7	dbSNP_134	17	1,8599		0,1,4299	no	missense,missense	ZNF746	NM_001163474.1,NM_152557.4	58,58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	181/646,181/645	149174826	1,13003	2202	4300	6502	SO:0001583	missense	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149174826C>T	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.541G>A	7.37:g.149174826C>T	ENSP00000345140:p.Ala181Thr					ZNF746_ENST00000458143.2_Missense_Mutation_p.A181T	p.A181T			Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		5	821	-	Melanoma(164;0.165)		181					A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	c.541G>A	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889995	0.72524	0.0	1.16E-4	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.08984	3.09;3.03	4.94	4.94	0.65067	.	0.151159	0.30695	N	0.009065	T	0.16041	0.0386	L	0.36672	1.1	0.39851	D	0.973248	D;D	0.89917	1.0;0.999	D;P	0.67382	0.951;0.894	T	0.12811	-1.0533	10	0.13108	T	0.6	-21.7367	13.6907	0.62544	0.0:1.0:0.0:0.0	.	181;181	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	T	181	ENSP00000345140:A181T;ENSP00000395007:A181T	ENSP00000345140:A181T	A	-	1	0	ZNF746	148805759	0.071000	0.21146	1.000000	0.80357	0.550000	0.35303	0.211000	0.17474	2.286000	0.76751	0.563000	0.77884	GCC		0.647	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		8	25	0	0	0	1	0	8	25				
DCC	1630	broad.mit.edu	37	18	50432638	50432638	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr18:50432638T>A	ENST00000442544.2	+	3	1253	c.637T>A	c.(637-639)Tca>Aca	p.S213T	DCC_ENST00000412726.1_Missense_Mutation_p.S61T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	213	Ig-like C2-type 2.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTACCGATGCTCAGCTCGAAA	0.493																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(637-639)Tca>Aca		deleted in colorectal carcinoma							91.0	90.0	90.0					18																	50432638		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50432638T>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.637T>A	18.37:g.50432638T>A	ENSP00000389140:p.Ser213Thr					DCC_ENST00000412726.1_Missense_Mutation_p.S61T	p.S213T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	3	1253	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	213			Ig-like C2-type 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.637T>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.406515	0.42715	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.65549	-0.16;-0.16	5.71	-1.68	0.08212	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.321794	0.23300	N	0.049689	T	0.23688	0.0573	N	0.03050	-0.425	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.06445	-1.0826	10	0.10111	T	0.7	.	1.1508	0.01785	0.4096:0.104:0.139:0.3474	.	61;213	E7EQM8;P43146	.;DCC_HUMAN	T	213;146;61	ENSP00000389140:S213T;ENSP00000397322:S61T	ENSP00000304146:S146T	S	+	1	0	DCC	48686636	0.992000	0.36948	0.959000	0.39883	0.954000	0.61252	0.300000	0.19156	-0.203000	0.10251	0.533000	0.62120	TCA		0.493	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		38	61	0	0	0	1	0	38	61				
MFN2	9927	broad.mit.edu	37	1	12052706	12052706	+	Silent	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:12052706G>A	ENST00000235329.5	+	4	592	c.270G>A	c.(268-270)gaG>gaA	p.E90E	MFN2_ENST00000444836.1_Silent_p.E90E	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	90					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCATCAGTGAGGTGCTGGCTC	0.532																																						ENST00000235329.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(268-270)gaG>gaA		mitofusin 2							247.0	223.0	231.0					1																	12052706		2203	4300	6503	SO:0001819	synonymous_variant	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12052706G>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.270G>A	1.37:g.12052706G>A						MFN2_ENST00000444836.1_Silent_p.E90E	p.E90E	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	4	592	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	90					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	ENST00000235329.5	37	c.270G>A	CCDS30587.1																																																																																				0.532	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		96	280	0	0	0	1	0	96	280				
MACF1	23499	broad.mit.edu	37	1	39920741	39920741	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:39920741G>A	ENST00000372915.3	+	88	20831	c.20744G>A	c.(20743-20745)cGa>cAa	p.R6915Q	MACF1_ENST00000539005.1_Missense_Mutation_p.R4827Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R4957Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R4957Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R4957Q|MACF1_ENST00000564288.1_Missense_Mutation_p.R7016Q|MACF1_ENST00000289893.4_Missense_Mutation_p.R5459Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R7053Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6915					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R4957Q(1)|p.R5459Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACATTGACCGAGTTAAAGCC	0.527																																						ENST00000564288.1																			2	Substitution - Missense(2)	p.R4957Q(1)|p.R5459Q(1)	skin(2)	breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(21046-21048)cGa>cAa		microtubule-actin crosslinking factor 1							135.0	116.0	122.0					1																	39920741		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39920741G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20744G>A	1.37:g.39920741G>A	ENSP00000362006:p.Arg6915Gln					MACF1_ENST00000289893.4_Missense_Mutation_p.R5459Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R4827Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R7053Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R4957Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R6915Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R4957Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R4957Q	p.R7016Q			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		89	21824	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6915					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.21047G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.02|16.02	3.004591|3.004591	0.54254|0.54254	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000360115|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.50277	.|1.4;1.4;1.4;0.75;1.4;1.4	5.63|5.63	4.71|4.71	0.59529|0.59529	.|.	.|0.161226	.|0.31279	.|N	.|0.007928	T|T	0.16128|0.16128	0.0388|0.0388	N|N	0.01109|0.01109	-1.01|-1.01	0.80722|0.80722	D|D	1|1	.|B;B	.|0.24823	.|0.112;0.019	.|B;B	.|0.21917	.|0.037;0.019	T|T	0.12167|0.12167	-1.0558|-1.0558	5|10	.|0.28530	.|T	.|0.3	.|.	5.3506|5.3506	0.16034|0.16034	0.2715:0.0:0.7285:0.0|0.2715:0.0:0.7285:0.0	.|.	.|6915;4957	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	K|Q	59|4957;6915;4957;4957;4827;5459	.|ENSP00000439537:R4957Q;ENSP00000362006:R6915Q;ENSP00000354573:R4957Q;ENSP00000313438:R4957Q;ENSP00000444364:R4827Q;ENSP00000289893:R5459Q	.|ENSP00000289893:R5459Q	E|R	+|+	1|2	0|0	MACF1|MACF1	39693328|39693328	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.016000|5.016000	0.64041|0.64041	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.527	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		9	68	0	0	0	1	0	9	68				
PTPRN2	5799	broad.mit.edu	37	7	157931053	157931053	+	Silent	SNP	C	C	T	rs144691858	byFrequency	TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:157931053C>T	ENST00000389418.4	-	7	1074	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	PTPRN2_ENST00000409483.1_Silent_p.A317A|PTPRN2_ENST00000389416.4_Silent_p.A338A|PTPRN2_ENST00000389413.3_Silent_p.A355A|PTPRN2_ENST00000404321.2_Silent_p.A378A	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	355					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCCCAGGGCCGCTCTCCCAG	0.672																																						ENST00000389413.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(1063-1065)gcG>gcA		protein tyrosine phosphatase, receptor type, N polypeptide 2							51.0	54.0	53.0					7																	157931053		2203	4300	6503	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157931053C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1065G>A	7.37:g.157931053C>T						PTPRN2_ENST00000404321.2_Silent_p.A378A|PTPRN2_ENST00000409483.1_Silent_p.A317A|PTPRN2_ENST00000389418.4_Silent_p.A355A|PTPRN2_ENST00000389416.4_Silent_p.A338A	p.A355A	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	7	1168	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	355					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.1065G>A	CCDS5947.1																																																																																				0.672	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			39	41	0	0	0	1	0	39	41				
COL6A3	1293	broad.mit.edu	37	2	238275374	238275374	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:238275374G>A	ENST00000295550.4	-	11	5908	c.5456C>T	c.(5455-5457)gCg>gTg	p.A1819V	COL6A3_ENST00000353578.4_Missense_Mutation_p.A1613V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1613V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1212V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1618V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1619V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1819	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCATGCATCGCATCATGCAA	0.498																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5455-5457)gCg>gTg		collagen, type VI, alpha 3							128.0	117.0	120.0					2																	238275374		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275374G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5456C>T	2.37:g.238275374G>A	ENSP00000295550:p.Ala1819Val					COL6A3_ENST00000346358.4_Missense_Mutation_p.A1619V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1613V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1212V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1618V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1613V	p.A1819V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5908	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1819			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5456C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268852	0.23136	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88509	-2.39;-2.37;-2.37;-2.39;-2.37;-2.35	5.19	5.19	0.71726	.	0.000000	0.53938	D	0.000046	D	0.89781	0.6814	M	0.72118	2.19	0.43207	D	0.995069	D;D;P	0.61080	0.989;0.988;0.462	P;P;B	0.49528	0.54;0.614;0.018	D	0.88375	0.2997	10	0.30854	T	0.27	.	13.0908	0.59166	0.0767:0.0:0.9233:0.0	.	1212;1613;1819	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	V	1819;1618;1613;1212;1613;1619	ENSP00000295550:A1819V;ENSP00000315609:A1618V;ENSP00000315873:A1613V;ENSP00000418285:A1212V;ENSP00000386844:A1613V;ENSP00000295546:A1619V	ENSP00000295550:A1819V	A	-	2	0	COL6A3	237940113	1.000000	0.71417	0.079000	0.20413	0.093000	0.18481	3.434000	0.52841	2.416000	0.81992	0.655000	0.94253	GCG		0.498	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		60	131	0	0	0	1	0	60	131				
UBFD1	56061	broad.mit.edu	37	16	23578315	23578315	+	Silent	SNP	T	T	C			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:23578315T>C	ENST00000395878.3	+	6	1125	c.744T>C	c.(742-744)acT>acC	p.T248T	UBFD1_ENST00000219638.4_Silent_p.T472T|CTD-2196E14.6_ENST00000568262.2_RNA|UBFD1_ENST00000567212.1_Silent_p.T239T	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	248							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		TAGAGCGGACTGAGAAATTGC	0.498																																					Melanoma(22;290 1069 22358 48158)	ENST00000395878.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(742-744)acT>acC		ubiquitin family domain containing 1							121.0	119.0	120.0					16																	23578315		1897	4109	6006	SO:0001819	synonymous_variant	56061							g.chr16:23578315T>C	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.744T>C	16.37:g.23578315T>C						UBFD1_ENST00000567212.1_Silent_p.T239T|UBFD1_ENST00000219638.4_Silent_p.T472T	p.T248T	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	6	1125	+			248					A8MW58|D3DWF2	Silent	SNP	ENST00000395878.3	37	c.744T>C	CCDS10613.2																																																																																				0.498	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116		5	119	0	0	0	1	0	5	119				
KCNJ5	3762	broad.mit.edu	37	11	128781968	128781968	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr11:128781968G>T	ENST00000338350.4	+	3	1152	c.800G>T	c.(799-801)cGc>cTc	p.R267L	KCNJ5_ENST00000533599.1_Missense_Mutation_p.R267L|KCNJ5_ENST00000529694.1_Missense_Mutation_p.R267L			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	267					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	GGCGACGACCGCCTCTTCCTT	0.552																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(799-801)cGc>cTc		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						77.0	84.0	81.0					11																	128781968		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781968G>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.800G>T	11.37:g.128781968G>T	ENSP00000339960:p.Arg267Leu					KCNJ5_ENST00000338350.4_Missense_Mutation_p.R267L|KCNJ5_ENST00000533599.1_Missense_Mutation_p.R267L	p.R267L	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1176	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	267					B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.800G>T	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979664	0.74360	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.94497	-3.44;-3.44;-3.44	5.46	4.54	0.55810	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98021	0.9348	H	0.94345	3.525	0.47374	D	0.9994	D	0.89917	1.0	D	0.85130	0.997	D	0.99201	1.0873	10	0.87932	D	0	.	16.283	0.82707	0.0:0.1326:0.8674:0.0	.	267	P48544	IRK5_HUMAN	L	267	ENSP00000433295:R267L;ENSP00000339960:R267L;ENSP00000434266:R267L	ENSP00000339960:R267L	R	+	2	0	KCNJ5	128287178	1.000000	0.71417	0.976000	0.42696	0.978000	0.69477	8.062000	0.89475	1.284000	0.44531	0.561000	0.74099	CGC		0.552	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		46	89	1	0	2.81305e-35	1	3.3405e-35	46	89				
NEBL	10529	broad.mit.edu	37	10	21158736	21158736	+	Missense_Mutation	SNP	G	G	A	rs548438161		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr10:21158736G>A	ENST00000377122.4	-	6	911	c.515C>T	c.(514-516)aCg>aTg	p.T172M	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.T172M|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	172					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCACTGTACGTGTGGGTGTC	0.378																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(514-516)aCg>aTg		nebulette							212.0	176.0	188.0					10																	21158736		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21158736G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.515C>T	10.37:g.21158736G>A	ENSP00000366326:p.Thr172Met					NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.T172M|NEBL_ENST00000377159.4_Intron	p.T172M	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			6	911	-			172					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.515C>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	6.904	0.536265	0.13188	.	.	ENSG00000078114	ENST00000377122;ENST00000377119	T;T	0.19669	3.4;2.13	5.97	-3.84	0.04256	.	0.704316	0.14904	N	0.291621	T	0.10465	0.0256	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.17379	-1.0371	10	0.44086	T	0.13	.	2.734	0.05235	0.3257:0.088:0.4106:0.1757	.	172	O76041	NEBL_HUMAN	M	172	ENSP00000366326:T172M;ENSP00000366323:T172M	ENSP00000366323:T172M	T	-	2	0	NEBL	21198742	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.771000	0.04699	-0.463000	0.06973	0.655000	0.94253	ACG		0.378	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		24	42	0	0	0	1	0	24	42				
ADAP1	11033	broad.mit.edu	37	7	939748	939748	+	Silent	SNP	C	C	G	rs139452042		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:939748C>G	ENST00000265846.5	-	8	1005	c.786G>C	c.(784-786)acG>acC	p.T262T	ADAP1_ENST00000449296.2_Silent_p.T190T|ADAP1_ENST00000539900.1_Silent_p.T273T	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	262	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						CCTTGGGCCCCGTCTTCTCCA	0.647																																						ENST00000265846.5																			0				endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						c.(784-786)acG>acC		ArfGAP with dual PH domains 1							130.0	118.0	122.0					7																	939748		2203	4300	6503	SO:0001819	synonymous_variant	11033				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	g.chr7:939748C>G	AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16486	protein-coding gene	gene with protein product		608114	"""centaurin, alpha 1"""	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.786G>C	7.37:g.939748C>G						ADAP1_ENST00000539900.1_Silent_p.T273T|ADAP1_ENST00000449296.2_Silent_p.T190T	p.T262T	NM_006869.2	NP_006860.1	O75689	ADAP1_HUMAN			8	1005	-			262			PH 2.		A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Silent	SNP	ENST00000265846.5	37	c.786G>C	CCDS5318.1	.	.	.	.	.	.	.	.	.	.	c	1.235	-0.622918	0.03636	.	.	ENSG00000105963	ENST00000446141;ENST00000437486	.	.	.	4.22	-8.16	0.01061	.	.	.	.	.	T	0.46600	0.1401	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52079	-0.8623	4	.	.	.	-13.6862	7.4618	0.27300	0.0:0.2535:0.2519:0.4946	.	.	.	.	P	245;196	.	.	R	-	2	0	ADAP1	906274	0.000000	0.05858	0.925000	0.36789	0.121000	0.20230	-9.208000	0.00013	-1.742000	0.01342	-1.168000	0.01747	CGG		0.647	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2	NM_006869		51	138	0	0	0	1	0	51	138				
ZBTB47	92999	broad.mit.edu	37	3	42704607	42704607	+	Silent	SNP	G	G	A	rs374607271		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:42704607G>A	ENST00000232974.6	+	4	2006	c.1725G>A	c.(1723-1725)ccG>ccA	p.P575P	ZBTB47_ENST00000505904.1_Silent_p.P121P|ZBTB47_ENST00000457842.3_Silent_p.P199P			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GGGAGAAGCCGTTCAGATGTG	0.602																																						ENST00000457842.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13						c.(595-597)ccG>ccA		zinc finger and BTB domain containing 47		G		1,4311		0,1,2155	83.0	93.0	90.0		1725	-6.4	0.9	3		90	0,8558		0,0,4279	no	coding-synonymous	ZBTB47	NM_145166.3		0,1,6434	AA,AG,GG		0.0,0.0232,0.0078		575/748	42704607	1,12869	2156	4279	6435	SO:0001819	synonymous_variant	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42704607G>A	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1725G>A	3.37:g.42704607G>A						ZBTB47_ENST00000232974.6_Silent_p.P575P|ZBTB47_ENST00000505904.1_Silent_p.P121P	p.P199P	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	4	2006	+			199					H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Silent	SNP	ENST00000232974.6	37	c.597G>A	CCDS46805.2																																																																																				0.602	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166		6	118	0	0	0	1	0	6	118				
ANKRD35	148741	broad.mit.edu	37	1	145561391	145561391	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:145561391C>T	ENST00000355594.4	+	10	1166	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	360										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGCAAGGCTCTAGTCTCCGG	0.592																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(1078-1080)tCt>tTt		ankyrin repeat domain 35							37.0	38.0	38.0					1																	145561391		2203	4300	6503	SO:0001583	missense	148741							g.chr1:145561391C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1079C>T	1.37:g.145561391C>T	ENSP00000347802:p.Ser360Phe						p.S360F	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	1166	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		360					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.1079C>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852275	0.32699	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.67523	-0.27	6.07	3.05	0.35203	.	1.044410	0.07537	N	0.913128	T	0.39410	0.1077	L	0.51422	1.61	0.09310	N	1	P	0.38642	0.641	B	0.32289	0.143	T	0.34625	-0.9821	10	0.54805	T	0.06	0.04	8.482	0.33049	0.0:0.6299:0.2905:0.0796	.	360	Q8N283	ANR35_HUMAN	F	269;360	ENSP00000347802:S360F	ENSP00000347802:S360F	S	+	2	0	ANKRD35	144272748	0.000000	0.05858	0.001000	0.08648	0.535000	0.34838	-0.016000	0.12613	0.819000	0.34492	0.655000	0.94253	TCT		0.592	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		22	40	0	0	0	1	0	22	40				
OR8B2	26595	broad.mit.edu	37	11	124252655	124252655	+	Silent	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr11:124252655G>A	ENST00000375013.2	-	1	603	c.585C>T	c.(583-585)aaC>aaT	p.N195N		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAACCACCTCGTTGACATAGG	0.438																																						ENST00000375013.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23						c.(583-585)aaC>aaT		olfactory receptor, family 8, subfamily B, member 2							90.0	91.0	91.0					11																	124252655		2201	4299	6500	SO:0001819	synonymous_variant	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252655G>A	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.585C>T	11.37:g.124252655G>A							p.N195N	NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	603	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	195					Q8NGH2	Silent	SNP	ENST00000375013.2	37	c.585C>T	CCDS31708.1																																																																																				0.438	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		37	90	0	0	0	1	0	37	90				
VWF	7450	broad.mit.edu	37	12	6125273	6125273	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr12:6125273C>A	ENST00000261405.5	-	31	5691	c.5437G>T	c.(5437-5439)Gat>Tat	p.D1813Y		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1813	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGCGGCATCAGCTGCTGCA	0.517																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5437-5439)Gat>Tat		von Willebrand factor	Antihemophilic Factor(DB00025)						47.0	44.0	45.0					12																	6125273		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6125273C>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5437G>T	12.37:g.6125273C>A	ENSP00000261405:p.Asp1813Tyr						p.D1813Y	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			31	5691	-			1813			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.5437G>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	9.520	1.108064	0.20714	.	.	ENSG00000110799	ENST00000261405	T	0.77877	-1.13	5.11	2.19	0.27852	von Willebrand factor, type A (3);	0.866627	0.09747	N	0.761092	T	0.70316	0.3210	L	0.42245	1.32	0.09310	N	1	P	0.37573	0.6	B	0.42282	0.382	T	0.55711	-0.8098	10	0.27082	T	0.32	.	4.8886	0.13715	0.0:0.4587:0.2928:0.2485	.	1813	P04275	VWF_HUMAN	Y	1813	ENSP00000261405:D1813Y	ENSP00000261405:D1813Y	D	-	1	0	VWF	5995534	0.000000	0.05858	0.000000	0.03702	0.545000	0.35147	0.206000	0.17375	0.155000	0.19261	0.555000	0.69702	GAT		0.517	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		10	44	1	0	6.40141e-05	1	6.75704e-05	10	44				
TNS1	7145	broad.mit.edu	37	2	218683436	218683436	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:218683436G>T	ENST00000171887.4	-	24	3759	c.3307C>A	c.(3307-3309)Ccc>Acc	p.P1103T	TNS1_ENST00000419504.1_Missense_Mutation_p.P1090T|TNS1_ENST00000430930.1_Missense_Mutation_p.P1082T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1103	Ser-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGCGTCCGGGGACCCTGGTCA	0.617																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(3307-3309)Ccc>Acc		tensin 1							31.0	35.0	34.0					2																	218683436		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218683436G>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3307C>A	2.37:g.218683436G>T	ENSP00000171887:p.Pro1103Thr					TNS1_ENST00000419504.1_Missense_Mutation_p.P1090T|TNS1_ENST00000430930.1_Missense_Mutation_p.P1082T	p.P1103T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	24	3759	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1103			Ser-rich.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3307C>A	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	7.016	0.557757	0.13436	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91011	-2.77;2.27;-2.76;-2.77	5.27	4.38	0.52667	.	0.615665	0.16554	N	0.209341	T	0.81721	0.4882	N	0.14661	0.345	0.34594	D	0.715792	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.001;0.002;0.002	T	0.79776	-0.1661	10	0.37606	T	0.19	.	10.5207	0.44918	0.0:0.121:0.6916:0.1874	.	1103;1082;1090	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	T	1103;241;1090;1082	ENSP00000171887:P1103T;ENSP00000394171:P241T;ENSP00000408724:P1090T;ENSP00000406016:P1082T	ENSP00000171887:P1103T	P	-	1	0	TNS1	218391681	0.960000	0.32886	0.987000	0.45799	0.627000	0.37826	1.222000	0.32515	1.214000	0.43395	0.655000	0.94253	CCC		0.617	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		5	73	1	0	0.014758	1	0.014758	5	73				
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|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	188	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.S188S(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				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(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.(562-564)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							77.0	84.0	82.0					9																	20414280		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414280G>A	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.564C>T	9.37:g.20414280G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S	p.S188S	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	850	-			188			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.564C>T	CCDS6494.1																																																																																				0.502	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	134	0	0	0	1	0	5	134				
CCDC129	223075	broad.mit.edu	37	7	31690866	31690866	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:31690866C>A	ENST00000407970.3	+	12	2732	c.2694C>A	c.(2692-2694)gaC>gaA	p.D898E	CCDC129_ENST00000409210.1_Missense_Mutation_p.D806E|CCDC129_ENST00000319386.3_Missense_Mutation_p.D750E|CCDC129_ENST00000451887.2_Missense_Mutation_p.D924E	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	898										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTTCCAGGGACATGTCAGAGG	0.473																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(2248-2250)gaC>gaA		coiled-coil domain containing 129							95.0	95.0	95.0					7																	31690866		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31690866C>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2694C>A	7.37:g.31690866C>A	ENSP00000384416:p.Asp898Glu					CCDC129_ENST00000451887.2_Missense_Mutation_p.D924E|CCDC129_ENST00000407970.3_Missense_Mutation_p.D898E|CCDC129_ENST00000409210.1_Missense_Mutation_p.D806E	p.D750E			Q6ZRS4	CC129_HUMAN			12	3243	+			898					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2250C>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910813	0.52439	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.81	2.97	0.34412	.	0.326457	0.26380	N	0.024705	T	0.39253	0.1071	M	0.66939	2.045	0.20074	N	0.999931	D;B;B;B	0.55605	0.972;0.049;0.049;0.29	P;B;B;B	0.53912	0.737;0.085;0.085;0.185	T	0.15093	-1.0449	10	0.42905	T	0.14	-5.1573	6.3051	0.21135	0.0:0.6846:0.1503:0.1651	.	924;908;898;750	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	E	750;898;924;908;806	ENSP00000313062:D750E;ENSP00000384416:D898E;ENSP00000395835:D924E;ENSP00000387214:D806E	ENSP00000313062:D750E	D	+	3	2	CCDC129	31657391	0.997000	0.39634	0.985000	0.45067	0.678000	0.39670	0.488000	0.22371	0.818000	0.34468	-0.145000	0.13849	GAC		0.473	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		38	97	1	0	1.69901e-12	1	1.93687e-12	38	97				
ALDH1L1	10840	broad.mit.edu	37	3	125850358	125850358	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:125850358G>T	ENST00000393434.2	-	13	1841	c.1492C>A	c.(1492-1494)Cag>Aag	p.Q498K	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q498K|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q397K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q508K|ALDH1L1_ENST00000393431.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	498	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCTGGTGCTGCTCCATGAGA	0.642																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(1492-1494)Cag>Aag		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						61.0	55.0	57.0					3																	125850358		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125850358G>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1492C>A	3.37:g.125850358G>T	ENSP00000377083:p.Gln498Lys					ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q397K|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q498K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q508K	p.Q498K	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	13	1841	-			498			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1492C>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	6.425	0.446504	0.12223	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	4.08	2.03	0.26663	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.205951	0.38492	N	0.001663	T	0.03520	0.0101	N	0.02315	-0.6	0.80722	D	1	B;B	0.27068	0.167;0.0	B;B	0.29663	0.105;0.003	T	0.50083	-0.8869	10	0.31617	T	0.26	.	11.0126	0.47671	0.0:0.5153:0.4847:0.0	.	397;498	E9PBX3;O75891	.;AL1L1_HUMAN	K	508;498;397;498	ENSP00000273450:Q508K;ENSP00000420293:Q498K;ENSP00000395881:Q397K;ENSP00000377083:Q498K	ENSP00000273450:Q508K	Q	-	1	0	ALDH1L1	127333048	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	1.425000	0.34859	1.009000	0.39289	0.467000	0.42956	CAG		0.642	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		7	67	1	0	0.00448238	1	0.00456242	7	67				
PDZD2	23037	broad.mit.edu	37	5	32090990	32090990	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:32090990G>A	ENST00000438447.1	+	20	7824	c.7436G>A	c.(7435-7437)cGc>cAc	p.R2479H	PDZD2_ENST00000282493.3_Missense_Mutation_p.R2479H			O15018	PDZD2_HUMAN	PDZ domain containing 2	2479					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCCGTGTCCCGCTCCAAGCTC	0.592																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(7435-7437)cGc>cAc		PDZ domain containing 2							58.0	58.0	58.0					5																	32090990		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090990G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7436G>A	5.37:g.32090990G>A	ENSP00000402033:p.Arg2479His					PDZD2_ENST00000282493.3_Missense_Mutation_p.R2479H	p.R2479H			O15018	PDZD2_HUMAN			20	7824	+			2479					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.7436G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251372	0.80135	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.17213	2.29;2.29	5.15	4.28	0.50868	.	0.000000	0.51477	D	0.000092	T	0.38957	0.1060	M	0.71581	2.175	0.38599	D	0.950623	D	0.89917	1.0	D	0.85130	0.997	T	0.34030	-0.9845	10	0.54805	T	0.06	.	11.4515	0.50156	0.0884:0.0:0.9116:0.0	.	2479	O15018	PDZD2_HUMAN	H	2479;2280;2479	ENSP00000402033:R2479H;ENSP00000282493:R2479H	ENSP00000282493:R2479H	R	+	2	0	PDZD2	32126747	1.000000	0.71417	0.999000	0.59377	0.825000	0.46686	6.598000	0.74122	1.154000	0.42482	0.561000	0.74099	CGC		0.592	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	124	0	0	0	1	0	4	124				
PIK3CA	5290	broad.mit.edu	37	3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:178916936G>A	ENST00000263967.3	+	2	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		19	Substitution - Missense(14)|Deletion - In frame(5)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)	endometrium(7)|large_intestine(5)|lung(4)|breast(2)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(322-324)cGt>cAt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							87.0	82.0	84.0					3																	178916936		1822	4071	5893	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916936G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.323G>A	3.37:g.178916936G>A	ENSP00000263967:p.Arg108His	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R108H	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	480	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		108			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.323G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677294	0.88445	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74209	0.8;-0.82	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84808	0.5554	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.83714	0.0189	9	.	.	.	-11.9048	19.4271	0.94746	0.0:0.0:1.0:0.0	.	108	P42336	PK3CA_HUMAN	H	108	ENSP00000263967:R108H;ENSP00000417479:R108H	.	R	+	2	0	PIK3CA	180399630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.584000	0.87258	0.555000	0.69702	CGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			6	96	0	0	0	1	0	6	96				
ATG16L1	55054	broad.mit.edu	37	2	234178654	234178654	+	Silent	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:234178654G>A	ENST00000392017.4	+	6	905	c.648G>A	c.(646-648)cgG>cgA	p.R216R	ATG16L1_ENST00000392018.1_Silent_p.R216R|ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000392020.4_Silent_p.R216R|ATG16L1_ENST00000373525.5_Silent_p.R72R|ATG16L1_ENST00000347464.5_Silent_p.R72R	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	216	WIPI2-binding. {ECO:0000269|PubMed:24954904}.				autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		ACAGGAGGCGGCAAGCCCGGC	0.433																																						ENST00000392017.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25						c.(646-648)cgG>cgA		autophagy related 16-like 1 (S. cerevisiae)							69.0	82.0	78.0					2																	234178654		2203	4300	6503	SO:0001819	synonymous_variant	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234178654G>A	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.648G>A	2.37:g.234178654G>A						ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000347464.5_Silent_p.R72R|ATG16L1_ENST00000392018.1_Silent_p.R216R|ATG16L1_ENST00000373525.5_Silent_p.R72R|ATG16L1_ENST00000392020.4_Silent_p.R216R	p.R216R	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	6	905	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	216					A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Silent	SNP	ENST00000392017.4	37	c.648G>A	CCDS2503.2																																																																																				0.433	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		4	116	0	0	0	1	0	4	116				
HCG17	414778	broad.mit.edu	37	6	30227450	30227450	+	lincRNA	SNP	C	C	G			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr6:30227450C>G	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		CTTGGGGGCCCTGGCCCTGAC	0.716																																						ENST00000453558.1																			0																																																			0							g.chr6:30227450C>G	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30227450C>G						HLA-L_ENST00000463348.1_RNA								0	126	-									RNA	SNP	ENST00000453558.1	37																																																																																						0.716	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		3	46	0	0	0	1	0	3	46				
NDUFB10	4716	broad.mit.edu	37	16	2011248	2011248	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:2011248C>G	ENST00000268668.6	+	2	342	c.225C>G	c.(223-225)gaC>gaG	p.D75E	NDUFB10_ENST00000543683.2_Missense_Mutation_p.D75E|SNORA64_ENST00000384674.1_RNA|SNORA10_ENST00000384084.1_RNA|NDUFB10_ENST00000569148.1_Missense_Mutation_p.D75E	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	75					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						AGGAGGAGGACATCATGTGCA	0.532																																						ENST00000543683.2																			0				lung(1)|urinary_tract(1)	2						c.(223-225)gaC>gaG		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	NADH(DB00157)						201.0	146.0	164.0					16																	2011248		2199	4300	6499	SO:0001583	missense	4716				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr16:2011248C>G	AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"""Mitochondrial respiratory chain complex / Complex I"""	7696	protein-coding gene	gene with protein product	"""complex I PDSW subunit"""	603843	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"""			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.225C>G	16.37:g.2011248C>G	ENSP00000268668:p.Asp75Glu					NDUFB10_ENST00000569148.1_Missense_Mutation_p.D75E|NDUFB10_ENST00000268668.6_Missense_Mutation_p.D75E	p.D75E			O96000	NDUBA_HUMAN			2	307	+			75					Q96II6	Missense_Mutation	SNP	ENST00000268668.6	37	c.225C>G	CCDS10451.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407197	0.42715	.	.	ENSG00000140990	ENST00000268668;ENST00000543683	.	.	.	5.12	-9.62	0.00547	.	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	M	0.87269	2.87	0.45791	D	0.99867	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.976	D	0.87363	0.2345	9	0.87932	D	0	-16.5956	22.302	0.99969	0.0:0.8736:0.0:0.1264	.	75;75	Q96II6;O96000	.;NDUBA_HUMAN	E	75	.	ENSP00000268668:D75E	D	+	3	2	NDUFB10	1951249	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.552000	0.06020	-2.089000	0.00860	-0.940000	0.02684	GAC		0.532	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250614.2	NM_004548		37	98	0	0	0	1	0	37	98				
SLC9A3	6550	broad.mit.edu	37	5	482257	482257	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:482257G>T	ENST00000264938.3	-	8	1381	c.1372C>A	c.(1372-1374)Cct>Act	p.P458T	CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Intron|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	458					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGCACCAGAGGCTTGATGGTC	0.692																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1372-1374)Cct>Act		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							30.0	30.0	30.0					5																	482257		2202	4300	6502	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482257G>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1372C>A	5.37:g.482257G>T	ENSP00000264938:p.Pro458Thr					SLC9A3_ENST00000514375.1_Intron	p.P458T	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		8	1381	-			458					B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1372C>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414020	0.83449	.	.	ENSG00000066230	ENST00000264938	T	0.19938	2.11	4.0	4.0	0.46444	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.56077	0.1961	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70457	-0.4866	10	0.72032	D	0.01	.	16.0686	0.80907	0.0:0.0:1.0:0.0	.	458	P48764	SL9A3_HUMAN	T	458	ENSP00000264938:P458T	ENSP00000264938:P458T	P	-	1	0	SLC9A3	535257	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.357000	0.73051	1.942000	0.56320	0.555000	0.69702	CCT		0.692	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		17	32	1	0	1.15919e-05	1	1.27065e-05	17	32				
RNF6	6049	broad.mit.edu	37	13	26789603	26789603	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr13:26789603C>T	ENST00000381588.4	-	5	1168	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.R139Q|RNF6_ENST00000381570.3_Missense_Mutation_p.R139Q|RNF6_ENST00000399762.2_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	139					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CGGGTTTGTTCGACTCACAGC	0.403																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(415-417)cGa>cAa		ring finger protein (C3H2C3 type) 6							116.0	96.0	103.0					13																	26789603		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26789603C>T	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.416G>A	13.37:g.26789603C>T	ENSP00000371000:p.Arg139Gln					RNF6_ENST00000346166.3_Missense_Mutation_p.R139Q|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.R139Q	p.R139Q	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	1168	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	139					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.416G>A	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543314	0.65198	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.12039	2.72;2.72;2.72	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000006	T	0.14141	0.0342	L	0.42581	1.335	0.80722	D	1	D	0.63046	0.992	B	0.44085	0.44	T	0.01409	-1.1362	10	0.46703	T	0.11	-12.0354	11.8905	0.52626	0.0:0.9156:0.0:0.0844	.	139	Q9Y252	RNF6_HUMAN	Q	139	ENSP00000342121:R139Q;ENSP00000371000:R139Q;ENSP00000370982:R139Q	ENSP00000342121:R139Q	R	-	2	0	RNF6	25687603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.573000	0.67417	2.330000	0.79161	0.557000	0.71058	CGA		0.403	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		6	91	0	0	0	1	0	6	91				
ANKRD6	22881	broad.mit.edu	37	6	90340367	90340367	+	Missense_Mutation	SNP	G	G	C	rs537834165		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr6:90340367G>C	ENST00000522441.1	+	16	2469	c.1828G>C	c.(1828-1830)Gct>Cct	p.A610P	LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.A605P|ANKRD6_ENST00000520793.1_Missense_Mutation_p.A546P|ANKRD6_ENST00000339746.4_Missense_Mutation_p.A610P|ANKRD6_ENST00000369408.5_Missense_Mutation_p.A575P	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	610					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TGATCAGCAGGCTGGGCCCTG	0.582																																						ENST00000369408.5																			0				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(1723-1725)Gct>Cct		ankyrin repeat domain 6							25.0	28.0	27.0					6																	90340367		2058	4192	6250	SO:0001583	missense	22881						protein binding	g.chr6:90340367G>C	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1828G>C	6.37:g.90340367G>C	ENSP00000430985:p.Ala610Pro					ANKRD6_ENST00000339746.4_Missense_Mutation_p.A610P|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.A605P|ANKRD6_ENST00000522441.1_Missense_Mutation_p.A610P|ANKRD6_ENST00000520793.1_Missense_Mutation_p.A546P	p.A575P	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	15	2072	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	610					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.1723G>C	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521907	0.27211	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000520793	T;T;T;T;T	0.67523	1.21;1.2;1.2;1.2;-0.27	5.01	2.22	0.28083	.	0.348517	0.24791	N	0.035569	T	0.29028	0.0721	N	0.22421	0.69	0.80722	D	1	P;B;B;B	0.37955	0.612;0.203;0.305;0.0	B;B;B;B	0.37267	0.121;0.113;0.245;0.001	T	0.16778	-1.0391	10	0.49607	T	0.09	-2.9958	2.7036	0.05156	0.345:0.0:0.3189:0.3361	.	546;610;575;605	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	P	575;610;605;610;546	ENSP00000358416:A575P;ENSP00000345767:A610P;ENSP00000396771:A605P;ENSP00000430985:A610P;ENSP00000429782:A546P	ENSP00000345767:A610P	A	+	1	0	ANKRD6	90397088	0.998000	0.40836	0.999000	0.59377	0.440000	0.31957	1.391000	0.34475	0.791000	0.33826	0.563000	0.77884	GCT		0.582	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			9	29	0	0	0	1	0	9	29				
KCNA3	3738	broad.mit.edu	37	1	111216384	111216384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:111216384G>A	ENST00000369769.2	-	1	1271	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	350					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TTGCCCTGTCGTTCGGCCAGC	0.547																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1048-1050)Cga>Tga		potassium voltage-gated channel, shaker-related subfamily, member 3							99.0	99.0	99.0					1																	111216384		2203	4300	6503	SO:0001587	stop_gained	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216384G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1048C>T	1.37:g.111216384G>A	ENSP00000358784:p.Arg350*						p.R350*	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1271	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	350					Q5VWN2	Nonsense_Mutation	SNP	ENST00000369769.2	37	c.1048C>T	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	37	6.378648	0.97520	.	.	ENSG00000177272	ENST00000369769	.	.	.	5.47	4.49	0.54785	.	0.134805	0.43579	U	0.000551	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	16.8206	0.85745	0.0:0.0:0.8175:0.1825	.	.	.	.	X	350	.	ENSP00000358784:R350X	R	-	1	2	KCNA3	111017907	0.990000	0.36364	1.000000	0.80357	0.990000	0.78478	0.912000	0.28597	2.573000	0.86826	0.655000	0.94253	CGA		0.547	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		53	117	0	0	0	1	0	53	117				
TROVE2	6738	broad.mit.edu	37	1	193046080	193046080	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:193046080A>G	ENST00000367446.3	+	5	1196	c.986A>G	c.(985-987)gAa>gGa	p.E329G	TROVE2_ENST00000367441.1_Missense_Mutation_p.E329G|TROVE2_ENST00000432079.1_Missense_Mutation_p.E54G|TROVE2_ENST00000416058.2_Missense_Mutation_p.E54G|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367443.1_Missense_Mutation_p.E329G|TROVE2_ENST00000367445.3_Missense_Mutation_p.E329G|TROVE2_ENST00000367444.3_Missense_Mutation_p.E329G|TROVE2_ENST00000400968.2_Missense_Mutation_p.E329G	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	329	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						ATCGCATTAGAAACTTACAAG	0.338																																						ENST00000432079.1																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(160-162)gAa>gGa		TROVE domain family, member 2							94.0	85.0	88.0					1																	193046080		1876	4098	5974	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193046080A>G	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.986A>G	1.37:g.193046080A>G	ENSP00000356416:p.Glu329Gly					TROVE2_ENST00000367441.1_Missense_Mutation_p.E329G|TROVE2_ENST00000367446.3_Missense_Mutation_p.E329G|TROVE2_ENST00000367445.3_Missense_Mutation_p.E329G|TROVE2_ENST00000367443.1_Missense_Mutation_p.E329G|TROVE2_ENST00000367444.3_Missense_Mutation_p.E329G|TROVE2_ENST00000416058.2_Missense_Mutation_p.E54G|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000400968.2_Missense_Mutation_p.E329G	p.E54G			P10155	RO60_HUMAN			4	729	+			329			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.161A>G	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494404	0.85069	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36	5.81	5.81	0.92471	TROVE (2);	0.045776	0.85682	D	0.000000	T	0.19087	0.0458	M	0.62723	1.935	0.58432	D	0.999997	B;B;P;P	0.45176	0.346;0.346;0.574;0.852	B;B;B;B	0.36335	0.125;0.125;0.209;0.222	T	0.03240	-1.1057	10	0.30854	T	0.27	-19.7425	16.2155	0.82211	1.0:0.0:0.0:0.0	.	329;329;329;329	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	G	329;54;329;329;329;329;329	ENSP00000383752:E329G;ENSP00000411421:E54G;ENSP00000356416:E329G;ENSP00000356413:E329G;ENSP00000356415:E329G;ENSP00000356414:E329G;ENSP00000356411:E329G	ENSP00000356411:E329G	E	+	2	0	TROVE2	191312703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	2.234000	0.73211	0.524000	0.50904	GAA		0.338	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		10	22	0	0	0	1	0	10	22				
PRELID1	27166	broad.mit.edu	37	5	176731691	176731691	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:176731691G>A	ENST00000303204.4	+	2	370	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	RAB24_ENST00000303251.6_5'Flank|PRELID1_ENST00000503216.1_Missense_Mutation_p.R53Q|RAB24_ENST00000393611.2_5'Flank|PRELID1_ENST00000502670.1_3'UTR|RAB24_ENST00000303270.6_5'Flank			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	53	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				apoptotic process (GO:0006915)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of cellular respiration (GO:1901857)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of T cell apoptotic process (GO:0070234)|regulation of membrane lipid distribution (GO:0097035)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of T cell differentiation (GO:0045580)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTGTCCCGGCGACTCCTG	0.567																																						ENST00000303204.4																			0				endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7						c.(157-159)cGg>cAg		PRELI domain containing 1							58.0	54.0	55.0					5																	176731691		2203	4299	6502	SO:0001583	missense	27166				immune response|multicellular organismal development	mitochondrion|nucleus		g.chr5:176731691G>A	BC013748	CCDS4415.1, CCDS64328.1	5q35.3	2010-01-18			ENSG00000169230	ENSG00000169230			30255	protein-coding gene	gene with protein product	"""protein of relevant evolutionary and lymphoid interest"", ""px19-like protein"""	605733				10784606, 14640972	Standard	NM_013237		Approved	CGI-106, PX19, PRELI	uc003mfx.4	Q9Y255	OTTHUMG00000130847	ENST00000303204.4:c.158G>A	5.37:g.176731691G>A	ENSP00000302114:p.Arg53Gln					PRELID1_ENST00000502670.1_3'UTR|PRELID1_ENST00000503216.1_Missense_Mutation_p.R53Q	p.R53Q			Q9Y255	PRLD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	370	+	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	53			PRELI/MSF1.		B2R5F7|D6RD25|Q549N2|Q9UI13|Q9UJS9	Missense_Mutation	SNP	ENST00000303204.4	37	c.158G>A	CCDS4415.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756108	0.89843	.	.	ENSG00000169230	ENST00000303204;ENST00000503216	T;T	0.17054	2.3;2.3	5.19	5.19	0.71726	PRELI/MSF1 (2);	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	M	0.79805	2.47	0.80722	D	1	P;P	0.38617	0.64;0.64	B;B	0.32533	0.147;0.147	T	0.09596	-1.0667	10	0.34782	T	0.22	-6.5515	18.3464	0.90324	0.0:0.0:1.0:0.0	.	53;53	D6RD25;Q9Y255	.;PRLD1_HUMAN	Q	53	ENSP00000302114:R53Q;ENSP00000427097:R53Q	ENSP00000302114:R53Q	R	+	2	0	PRELID1	176664297	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.227000	0.95236	2.425000	0.82216	0.561000	0.74099	CGG		0.567	PRELID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253414.1	NM_013237		12	42	0	0	0	1	0	12	42				
TEKT1	83659	broad.mit.edu	37	17	6733629	6733629	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr17:6733629G>T	ENST00000338694.2	-	2	196	c.67C>A	c.(67-69)Cag>Aag	p.Q23K	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	23						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CTGTGGTACTGGTTCTTGTTA	0.468																																						ENST00000338694.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(67-69)Cag>Aag		tektin 1							103.0	93.0	96.0					17																	6733629		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6733629G>T		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.67C>A	17.37:g.6733629G>T	ENSP00000341346:p.Gln23Lys					TEKT1_ENST00000535086.1_5'UTR	p.Q23K	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			2	196	-		Myeloproliferative disorder(207;0.0255)	23					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.67C>A	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	G	5.577	0.291314	0.10567	.	.	ENSG00000167858	ENST00000338694	T	0.02369	4.32	4.92	4.92	0.64577	.	0.458670	0.22635	N	0.057537	T	0.01835	0.0058	N	0.16656	0.425	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.36890	-0.9729	10	0.02654	T	1	.	9.615	0.39685	0.0956:0.0:0.9044:0.0	.	23	Q969V4	TEKT1_HUMAN	K	23	ENSP00000341346:Q23K	ENSP00000341346:Q23K	Q	-	1	0	TEKT1	6674353	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.513000	0.53414	2.445000	0.82738	0.655000	0.94253	CAG		0.468	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		10	40	1	0	0.000442599	1	0.000458694	10	40				
FARSB	10056	broad.mit.edu	37	2	223499164	223499164	+	Silent	SNP	C	C	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:223499164C>T	ENST00000281828.6	-	6	815	c.552G>A	c.(550-552)aaG>aaA	p.K184K	FARSB_ENST00000536361.1_Silent_p.K85K	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	184					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TATTTAGAGGCTTGAATTTGA	0.383																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(550-552)aaG>aaA		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						104.0	102.0	102.0					2																	223499164		2203	4300	6503	SO:0001819	synonymous_variant	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223499164C>T	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.552G>A	2.37:g.223499164C>T						FARSB_ENST00000536361.1_Silent_p.K85K	p.K184K	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	6	815	-		Renal(207;0.0183)	184					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Silent	SNP	ENST00000281828.6	37	c.552G>A	CCDS2454.1																																																																																				0.383	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		17	62	0	0	0	1	0	17	62				
PDE6B	5158	broad.mit.edu	37	4	619651	619651	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr4:619651T>C	ENST00000496514.1	+	1	257	c.236T>C	c.(235-237)gTc>gCc	p.V79A	PDE6B_ENST00000255622.6_Missense_Mutation_p.V79A			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	79	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GTCTTCAAGGTCCTGCGGCGC	0.662																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(235-237)gTc>gCc		phosphodiesterase 6B, cGMP-specific, rod, beta							24.0	21.0	22.0					4																	619651		2201	4300	6501	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:619651T>C	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.236T>C	4.37:g.619651T>C	ENSP00000420295:p.Val79Ala					PDE6B_ENST00000496514.1_Missense_Mutation_p.V79A	p.V79A	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			1	279	+			79			GAF 1.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.236T>C	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.786616	0.31593	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.71817	-0.6;-0.6	4.98	2.48	0.30137	GAF (2);	0.283961	0.38436	N	0.001698	T	0.55386	0.1917	L	0.39085	1.19	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.42849	-0.9427	10	0.37606	T	0.19	.	6.5785	0.22581	0.0:0.3096:0.0:0.6904	.	79;79	P35913;P35913-2	PDE6B_HUMAN;.	A	79	ENSP00000255622:V79A;ENSP00000420295:V79A	ENSP00000255622:V79A	V	+	2	0	PDE6B	609651	0.556000	0.26538	0.878000	0.34440	0.950000	0.60333	2.299000	0.43611	0.264000	0.21851	0.459000	0.35465	GTC		0.662	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		8	19	0	0	0	1	0	8	19				
KCNK9	51305	broad.mit.edu	37	8	140715136	140715136	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr8:140715136C>T	ENST00000520439.1	-	1	163	c.100G>A	c.(100-102)Gag>Aag	p.E34K	KCNK9_ENST00000303015.1_Missense_Mutation_p.E34K	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	34					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	TCGCGCATCTCGTGGTCCGAC	0.607																																						ENST00000520439.1																			0				NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43						c.(100-102)Gag>Aag		potassium channel, subfamily K, member 9							88.0	74.0	79.0					8																	140715136		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140715136C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.100G>A	8.37:g.140715136C>T	ENSP00000430676:p.Glu34Lys					KCNK9_ENST00000303015.1_Missense_Mutation_p.E34K	p.E34K			Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		1	163	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	34					Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.100G>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160347	0.94727	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.25749	1.78;1.78;1.78	3.81	3.81	0.43845	.	0.000000	0.64402	D	0.000001	T	0.59865	0.2225	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72969	-0.4130	10	0.87932	D	0	.	15.0272	0.71680	0.0:1.0:0.0:0.0	.	34	Q9NPC2	KCNK9_HUMAN	K	34	ENSP00000429847:E34K;ENSP00000302166:E34K;ENSP00000430676:E34K	ENSP00000302166:E34K	E	-	1	0	KCNK9	140784318	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	5.313000	0.65798	1.811000	0.52892	0.555000	0.69702	GAG		0.607	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		6	33	0	0	0	1	0	6	33				
KDM3B	51780	broad.mit.edu	37	5	137721936	137721936	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:137721936G>T	ENST00000314358.5	+	7	1206	c.1006G>T	c.(1006-1008)Gat>Tat	p.D336Y	KDM3B_ENST00000394866.1_Intron|KDM3B_ENST00000542866.1_5'Flank	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	336					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCCAGGGCTGGATCAGAGAGC	0.552																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(1006-1008)Gat>Tat		lysine (K)-specific demethylase 3B							152.0	155.0	154.0					5																	137721936		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137721936G>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1006G>T	5.37:g.137721936G>T	ENSP00000326563:p.Asp336Tyr					KDM3B_ENST00000394866.1_Intron	p.D336Y	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			7	1206	+			336					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.1006G>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951009	0.73787	.	.	ENSG00000120733	ENST00000314358;ENST00000545151	T	0.65178	-0.14	5.59	5.59	0.84812	.	0.607362	0.17618	N	0.167828	T	0.58061	0.2096	L	0.27053	0.805	0.80722	D	1	B	0.31790	0.34	B	0.37091	0.241	T	0.59941	-0.7359	10	0.66056	D	0.02	-23.7888	19.5692	0.95405	0.0:0.0:1.0:0.0	.	336	Q7LBC6	KDM3B_HUMAN	Y	336;126	ENSP00000326563:D336Y	ENSP00000326563:D336Y	D	+	1	0	KDM3B	137749835	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.828000	0.55753	2.614000	0.88457	0.557000	0.71058	GAT		0.552	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		52	194	1	0	3.68337e-26	1	4.28474e-26	52	194				
RAP1GAP	5909	broad.mit.edu	37	1	21926096	21926096	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:21926096G>C	ENST00000374765.4	-	21	1867	c.1667C>G	c.(1666-1668)gCg>gGg	p.A556G	RAP1GAP_ENST00000374763.2_Missense_Mutation_p.A641G|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.A620G|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.A587G|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.A582G	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	556					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGCTCTCTGCGCTGCGGTCTC	0.687																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1744-1746)gCg>gGg		RAP1 GTPase activating protein							56.0	51.0	53.0					1																	21926096		2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21926096G>C	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1667C>G	1.37:g.21926096G>C	ENSP00000363897:p.Ala556Gly					RAP1GAP_ENST00000374761.2_Missense_Mutation_p.A587G|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.A641G|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.A556G|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.A620G	p.A582G	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	23	2047	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	556					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.1745C>G	CCDS218.1	.	.	.	.	.	.	.	.	.	.	G	2.990	-0.208380	0.06180	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.89343	-2.46;-2.46;-2.5;-2.46	3.92	3.0	0.34707	.	0.813117	0.10620	N	0.653381	T	0.81059	0.4744	L	0.34521	1.04	0.31308	N	0.687482	B;B;B;B	0.26512	0.0;0.028;0.151;0.094	B;B;B;B	0.30716	0.006;0.034;0.119;0.034	T	0.73852	-0.3852	10	0.22706	T	0.39	-16.1769	4.3453	0.11129	0.1171:0.0:0.6561:0.2268	.	582;556;586;556	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	G	620;587;582;556;586;641	ENSP00000290101:A620G;ENSP00000363893:A587G;ENSP00000441661:A582G;ENSP00000363897:A556G	ENSP00000290101:A620G	A	-	2	0	RAP1GAP	21798683	0.958000	0.32768	0.833000	0.33012	0.076000	0.17211	2.278000	0.43426	2.208000	0.71279	0.561000	0.74099	GCG		0.687	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		19	47	0	0	0	1	0	19	47				
OR5P3	120066	broad.mit.edu	37	11	7846675	7846675	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr11:7846675A>G	ENST00000328375.1	-	1	844	c.845T>C	c.(844-846)aTt>aCt	p.I282T	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAACATGGGAATCACCACGGT	0.443																																						ENST00000328375.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(844-846)aTt>aCt		olfactory receptor, family 5, subfamily P, member 3							96.0	91.0	93.0					11																	7846675		2189	4296	6485	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7846675A>G	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.845T>C	11.37:g.7846675A>G	ENSP00000332068:p.Ile282Thr					RP11-35J10.5_ENST00000527565.1_lincRNA	p.I282T	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	844	-			282					Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.845T>C	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.108528	0.37242	.	.	ENSG00000182334	ENST00000328375	T	0.36157	1.27	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.29716	0.0742	N	0.21194	0.64	0.24804	N	0.992687	B	0.32604	0.377	B	0.41202	0.35	T	0.27434	-1.0074	10	0.72032	D	0.01	-26.1163	8.5125	0.33226	0.8038:0.1962:0.0:0.0	.	282	Q8WZ94	OR5P3_HUMAN	T	282	ENSP00000332068:I282T	ENSP00000332068:I282T	I	-	2	0	OR5P3	7803251	0.004000	0.15560	0.967000	0.41034	0.743000	0.42351	0.737000	0.26144	1.987000	0.57996	0.528000	0.53228	ATT		0.443	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		20	50	0	0	0	1	0	20	50				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	67	0	0	0	1	0	4	67				
SERPINB1	1992	broad.mit.edu	37	6	2834226	2834226	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr6:2834226C>G	ENST00000380739.5	-	7	958	c.756G>C	c.(754-756)ttG>ttC	p.L252F	SERPINB1_ENST00000537185.1_Missense_Mutation_p.L101F|SERPINB1_ENST00000476896.1_5'Flank	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	252					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		GCAACTTTTCCAAAGTCAACT	0.363																																						ENST00000380739.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13						c.(754-756)ttG>ttC		serpin peptidase inhibitor, clade B (ovalbumin), member 1							38.0	35.0	36.0					6																	2834226		2201	4294	6495	SO:0001583	missense	1992				regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity	g.chr6:2834226C>G	M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"""Serine (or cysteine) peptidase inhibitors"""	3311	protein-coding gene	gene with protein product		130135	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"""	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.756G>C	6.37:g.2834226C>G	ENSP00000370115:p.Leu252Phe					SERPINB1_ENST00000537185.1_Missense_Mutation_p.L101F	p.L252F			P30740	ILEU_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0717)	7	958	-	Ovarian(93;0.0412)		252					A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	ENST00000380739.5	37	c.756G>C	CCDS4477.1	.	.	.	.	.	.	.	.	.	.	C	4.663	0.123234	0.08931	.	.	ENSG00000021355	ENST00000380739;ENST00000542771;ENST00000537185	D;D	0.84442	-1.85;-1.85	5.47	2.7	0.31948	Serpin domain (3);	0.667620	0.14652	N	0.306560	T	0.63616	0.2526	L	0.38531	1.155	0.40386	D	0.979492	B	0.24092	0.097	B	0.31191	0.125	T	0.54662	-0.8260	10	0.29301	T	0.29	.	5.6655	0.17693	0.139:0.6254:0.0:0.2356	.	252	P30740	ILEU_HUMAN	F	252;214;101	ENSP00000370115:L252F;ENSP00000444543:L101F	ENSP00000370115:L252F	L	-	3	2	SERPINB1	2779225	0.661000	0.27430	0.794000	0.32065	0.097000	0.18754	0.247000	0.18179	0.363000	0.24346	-0.157000	0.13467	TTG		0.363	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1			9	45	0	0	0	1	0	9	45				
DNAH3	55567	broad.mit.edu	37	16	21078692	21078692	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:21078692C>T	ENST00000261383.3	-	24	3429	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	DNAH3_ENST00000415178.1_Missense_Mutation_p.E1144K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1144	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E1144K(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAAGCTTCTCTGCCATCCGT	0.468																																						ENST00000261383.3																			2	Substitution - Missense(2)	p.E1144K(2)	large_intestine(2)	NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3430-3432)Gag>Aag		dynein, axonemal, heavy chain 3							85.0	86.0	86.0					16																	21078692		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21078692C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3430G>A	16.37:g.21078692C>T	ENSP00000261383:p.Glu1144Lys					DNAH3_ENST00000415178.1_Missense_Mutation_p.E1144K	p.E1144K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	24	3429	-			1144			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3430G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734719	0.69189	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61627	0.09;0.09	5.64	5.64	0.86602	Dynein heavy chain, domain-2 (1);	0.134633	0.49916	D	0.000138	T	0.54464	0.1860	L	0.43152	1.355	0.58432	D	0.999995	B	0.22003	0.063	B	0.20955	0.032	T	0.49744	-0.8907	10	0.49607	T	0.09	.	19.7101	0.96094	0.0:1.0:0.0:0.0	.	1144	Q8TD57	DYH3_HUMAN	K	1144	ENSP00000261383:E1144K;ENSP00000394245:E1144K	ENSP00000261383:E1144K	E	-	1	0	DNAH3	20986193	1.000000	0.71417	0.998000	0.56505	0.875000	0.50365	5.803000	0.69129	2.655000	0.90218	0.637000	0.83480	GAG		0.468	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	99	0	0	0	1	0	4	99				
RP11-423O2.5	0	broad.mit.edu	37	1	142803302	142803302	+	lincRNA	DEL	C	C	-	rs79529551	byFrequency	TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:142803302delC	ENST00000423385.1	-	0	1663																											acaacaacaacaaACAGGATG	0.388																																						ENST00000423385.1																			0																																																			0							g.chr1:142803302delC																													1.37:g.142803302delC														0	1663	-									RNA	DEL	ENST00000423385.1	37																																																																																						0.388	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			2	4						2	4	---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155734751	155734751	+	Intron	DEL	T	T	-			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:155734751delT	ENST00000368331.1	-	21	4522				GON4L_ENST00000271883.5_Intron|GON4L_ENST00000361040.5_Frame_Shift_Del_p.S1505fs|GON4L_ENST00000437809.1_Intron|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TACATATTACTGAGTCCACGA	0.398																																						ENST00000361040.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(4513-4515)gtfs		gon-4-like (C. elegans)							83.0	75.0	78.0					1																	155734751		2203	4300	6503	SO:0001627	intron_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155734751delT	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4473+39A>-	1.37:g.155734751delT						GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Intron|GON4L_ENST00000437809.1_Intron|GON4L_ENST00000271883.5_Intron	p.S1505fs	NM_032292.4	NP_115668.4	Q3T8J9	GON4L_HUMAN			21	4584	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		0			Glu-rich.		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Frame_Shift_Del	DEL	ENST00000368331.1	37	c.4513delA																																																																																					0.398	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		27	60						27	60	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	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			4	9						4	9	---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71050125	71050126	+	In_Frame_Ins	INS	-	-	TAGCTC			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:71050125_71050126insTAGCTC	ENST00000318789.4	-	13	1584_1585	c.1059_1060insGAGCTA	c.(1057-1062)ctacag>ctaGAGCTAcag	p.352_353insLE	FOXP1_ENST00000491238.1_In_Frame_Ins_p.354_355insLE|FOXP1_ENST00000484350.1_In_Frame_Ins_p.276_277insLE|FOXP1_ENST00000493089.1_In_Frame_Ins_p.352_353insLE|FOXP1_ENST00000498215.1_In_Frame_Ins_p.352_353insLE|FOXP1_ENST00000468577.1_In_Frame_Ins_p.352_353insLE|FOXP1_ENST00000475937.1_In_Frame_Ins_p.352_353insLE	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	352	Leucine-zipper.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGTTTTACCTGTAGCTCTAACT	0.381			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1057-1062)ctagct>ctGAGCTAagct		forkhead box P1																																				SO:0001652	inframe_insertion	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71050125_71050126insTAGCTC	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1054_1059dupGAGCTA	3.37:g.71050126_71050131dupTAGCTC	ENSP00000318902:p.Leu351_Glu352dup					FOXP1_ENST00000498215.1_In_Frame_Ins_p.353_354LA>LS*A|FOXP1_ENST00000468577.1_In_Frame_Ins_p.353_354LA>LS*A|FOXP1_ENST00000475937.1_In_Frame_Ins_p.353_354LA>LS*A|FOXP1_ENST00000493089.1_In_Frame_Ins_p.353_354LA>LS*A|FOXP1_ENST00000484350.1_In_Frame_Ins_p.277_278LA>LS*A|FOXP1_ENST00000491238.1_In_Frame_Ins_p.355_356LA>LS*A	p.353_354LA>LS*A	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	13	1584_1585	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	353			Leucine-zipper.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	In_Frame_Ins	INS	ENST00000318789.4	37	c.1059_1060insGAGCTA	CCDS2914.1																																																																																				0.381	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		12	54						12	54	---	---	---	---
WDR1	9948	broad.mit.edu	37	4	10089926	10089927	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr4:10089926_10089927delCC	ENST00000499869.2	-	7	900_901	c.707_708delGG	c.(706-708)gggfs	p.G236fs	WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Frame_Shift_Del_p.G96fs|WDR1_ENST00000382451.2_Frame_Shift_Del_p.G96fs|WDR1_ENST00000382452.2_Frame_Shift_Del_p.G236fs			O75083	WDR1_HUMAN	WD repeat domain 1	236					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTGCGTAAATCCCACCGTCGTG	0.53																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(706-708)gfs		WD repeat domain 1																																				SO:0001589	frameshift_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10089926_10089927delCC	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.707_708delGG	4.37:g.10089926_10089927delCC	ENSP00000427687:p.Gly236fs					WDR1_ENST00000382451.2_Frame_Shift_Del_p.G96fs|WDR1_ENST00000502702.1_Frame_Shift_Del_p.G96fs|WDR1_ENST00000499869.2_Frame_Shift_Del_p.G236fs|WDR1_ENST00000515743.1_5'UTR	p.G236fs	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	7	989_990	-			236					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Frame_Shift_Del	DEL	ENST00000499869.2	37	c.707_708delGG	CCDS54740.1																																																																																				0.530	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			2	4						2	4	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111685156	111685156	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr6:111685156delG	ENST00000358835.3	-	17	7233	c.6779delC	c.(6778-6780)ccafs	p.P2260fs	REV3L-IT1_ENST00000411895.1_RNA|REV3L_ENST00000368805.1_Frame_Shift_Del_p.P2260fs|REV3L_ENST00000368802.3_Frame_Shift_Del_p.P2260fs|REV3L_ENST00000435970.1_Frame_Shift_Del_p.P2182fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2260					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCTTTCTGTGGGGTATTTAC	0.338								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(6544-6546)cafs	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							110.0	101.0	104.0					6																	111685156		2203	4300	6503	SO:0001589	frameshift_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111685156delG	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6779delC	6.37:g.111685156delG	ENSP00000351697:p.Pro2260fs					REV3L_ENST00000368802.3_Frame_Shift_Del_p.P2260fs|REV3L_ENST00000368805.1_Frame_Shift_Del_p.P2260fs|REV3L_ENST00000358835.3_Frame_Shift_Del_p.P2260fs	p.P2182fs			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	18	7361	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2260					O43214|Q5TC33	Frame_Shift_Del	DEL	ENST00000358835.3	37	c.6545delC	CCDS5091.2																																																																																				0.338	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		33	71						33	71	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-	rs543059448	byFrequency	TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)				8	0.00159744	0.0023	0.0014	5008	,	,		18237	0.002		0.001	False		,,,				2504	0.001					ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1417-1419)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1			,,,	21,4241		0,21,2110					,,,	0.7	0.0			137	49,8205		0,49,4078	no	coding,coding,coding,coding	LILRB1	NM_006669.3,NM_001081639.1,NM_001081638.1,NM_001081637.1	,,,	0,70,6188	A1A1,A1R,RR		0.5937,0.4927,0.5593	,,,	,,,		70,12446				SO:0001651	inframe_deletion	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146148_55146150delCTC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1417_1419delCTC	19.37:g.55146157_55146159delCTC	ENSP00000379622:p.Leu479del	HNSCC(37;0.09)				LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del	p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1774_1776	+			479					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	In_Frame_Del	DEL	ENST00000396331.1	37	c.1417_1419delCTC	CCDS42617.1																																																																																				0.581	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			8	101						8	101	---	---	---	---
CBS	875	broad.mit.edu	37	21	44476945	44476945	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr21:44476945delT	ENST00000398165.3	-	16	1779	c.1520delA	c.(1519-1521)cacfs	p.H507fs	CBS_ENST00000398168.1_Frame_Shift_Del_p.H507fs|CBS_ENST00000544202.1_Frame_Shift_Del_p.H419fs|CBS_ENST00000352178.5_Frame_Shift_Del_p.H507fs|CBS_ENST00000359624.3_Frame_Shift_Del_p.H507fs|CBS_ENST00000398158.1_Frame_Shift_Del_p.H507fs	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	507					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	CAGGGCGAAGTGGTCCATCTC	0.652																																						ENST00000398165.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17						c.(1519-1521)ccfs		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)						84.0	59.0	67.0					21																	44476945		2152	4188	6340	SO:0001589	frameshift_variant	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44476945delT	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1520delA	21.37:g.44476945delT	ENSP00000381231:p.His507fs					CBS_ENST00000544202.1_Frame_Shift_Del_p.H419fs|CBS_ENST00000398168.1_Frame_Shift_Del_p.H507fs|CBS_ENST00000398158.1_Frame_Shift_Del_p.H507fs|CBS_ENST00000359624.3_Frame_Shift_Del_p.H507fs|CBS_ENST00000352178.5_Frame_Shift_Del_p.H507fs	p.H507fs	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN			16	1779	-			507					B2R993|D3DSK4|Q99425|Q9BWC5	Frame_Shift_Del	DEL	ENST00000398165.3	37	c.1520delA	CCDS13693.1																																																																																				0.652	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071		2	4						2	4	---	---	---	---
