#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
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(922-924)gTt>gCt		POTE ankyrin domain family, member M							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala					RP11-244H18.1_ENST00000547584.1_lincRNA	p.V308A	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			5	974	-			308						Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		3	58	0	0	0	1	0	3	58				
USP11	8237	broad.mit.edu	37	X	47101902	47101902	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:47101902C>T	ENST00000218348.3	+	11	1598	c.1598C>T	c.(1597-1599)aCg>aTg	p.T533M	USP11_ENST00000377107.2_Missense_Mutation_p.T490M	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	533	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TCCAAACACACGGGCATCTCG	0.567																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(1468-1470)aCg>aTg		ubiquitin specific peptidase 11							85.0	69.0	75.0					X																	47101902		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47101902C>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1598C>T	X.37:g.47101902C>T	ENSP00000218348:p.Thr533Met					USP11_ENST00000218348.3_Missense_Mutation_p.T533M	p.T490M			P51784	UBP11_HUMAN			11	1823	+			533					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.1469C>T	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234718	0.58886	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.21734	2.0;1.99	5.63	4.74	0.60224	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.125517	0.52532	D	0.000078	T	0.33381	0.0861	L	0.44542	1.39	0.43617	D	0.995999	P;D	0.69078	0.763;0.997	P;P	0.58780	0.667;0.845	T	0.04017	-1.0984	10	0.62326	D	0.03	-14.0357	13.6734	0.62438	0.1558:0.8442:0.0:0.0	.	260;533	B3KP28;P51784	.;UBP11_HUMAN	M	490;533	ENSP00000366311:T490M;ENSP00000218348:T533M	ENSP00000218348:T533M	T	+	2	0	USP11	46986846	0.667000	0.27484	0.727000	0.30756	0.659000	0.38960	3.248000	0.51430	1.083000	0.41159	0.500000	0.49745	ACG		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		12	45	0	0	0	1	0	12	45				
PRAMEF11	440560	broad.mit.edu	37	1	12884981	12884981	+	Missense_Mutation	SNP	T	T	C	rs4989318	byFrequency	TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr1:12884981T>C	ENST00000535591.1	-	4	1325	c.1130A>G	c.(1129-1131)cAg>cGg	p.Q377R	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	377					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATAACTTTCCTGCGGGGCAGG	0.507													.|||	76	0.0151757	0.0008	0.0231	5008	,	,		22853	0.003		0.0507	False		,,,				2504	0.0051					ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1129-1131)cAg>cGg		PRAME family member 11		C	ARG/GLN	9,1375		0,9,683	96.0	71.0	78.0		1130	-1.2	0.0	1	dbSNP_113	78	165,3015		10,145,1435	no	missense	PRAMEF11	NM_001146344.1	43	10,154,2118	CC,CT,TT		5.1887,0.6503,3.8124	benign	377/437	12884981	174,4390	692	1590	2282	SO:0001583	missense	440560							g.chr1:12884981T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1130A>G	1.37:g.12884981T>C	ENSP00000439551:p.Gln377Arg						p.Q377R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1325	-			377						Missense_Mutation	SNP	ENST00000535591.1	37	c.1130A>G	CCDS53268.1	61	0.027930402930402932	1	0.0020325203252032522	12	0.03314917127071823	5	0.008741258741258742	43	0.05672823218997362	.	1.215	-0.628591	0.03610	0.006503	0.051887	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.56103	0.48;0.48	1.76	-1.18	0.09617	.	0.329023	0.24884	N	0.034831	T	0.02230	0.0069	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05616	-1.0874	10	0.21540	T	0.41	.	2.7367	0.05242	0.308:0.2838:0.0:0.4082	rs4989318	377	O60813	PRA11_HUMAN	R	377;418;377	ENSP00000439551:Q377R;ENSP00000391839:Q377R	ENSP00000328783:Q418R	Q	-	2	0	PRAMEF11	12807568	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	-1.124000	0.03260	-1.008000	0.03404	-0.479000	0.04858	CAG		0.507	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		6	86	0	0	0	1	0	6	86				
POFUT2	23275	broad.mit.edu	37	21	46685545	46685545	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr21:46685545A>C	ENST00000349485.5	-	9	1168	c.1142T>G	c.(1141-1143)tTt>tGt	p.F381C	POFUT2_ENST00000331343.7_3'UTR|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	381					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GGTGCCAATAAAAAACCTGCA	0.498																																						ENST00000349485.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1141-1143)tTt>tGt		protein O-fucosyltransferase 2							54.0	59.0	57.0					21																	46685545		2203	4300	6503	SO:0001583	missense	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46685545A>C	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.1142T>G	21.37:g.46685545A>C	ENSP00000339613:p.Phe381Cys					POFUT2_ENST00000331343.7_3'UTR|POFUT2_ENST00000471540.1_5'UTR	p.F381C	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	9	1168	-			381					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	ENST00000349485.5	37	c.1142T>G	CCDS13719.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033579	0.75504	.	.	ENSG00000186866	ENST00000349485	T	0.61980	0.06	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.81631	0.4863	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85306	0.1076	10	0.72032	D	0.01	-17.678	12.571	0.56337	1.0:0.0:0.0:0.0	.	381	Q9Y2G5	OFUT2_HUMAN	C	381	ENSP00000339613:F381C	ENSP00000339613:F381C	F	-	2	0	POFUT2	45509973	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	8.477000	0.90424	1.934000	0.56057	0.533000	0.62120	TTT		0.498	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		12	28	0	0	0	1	0	12	28				
AOC1	26	broad.mit.edu	37	7	150555013	150555013	+	Silent	SNP	C	C	T			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr7:150555013C>T	ENST00000493429.1	+	4	2039	c.1455C>T	c.(1453-1455)gtC>gtT	p.V485V	AOC1_ENST00000467291.1_Silent_p.V485V|AOC1_ENST00000416793.2_Silent_p.V485V|AOC1_ENST00000360937.4_Silent_p.V485V			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	485					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CTGGCTACGTCCACGCCACCT	0.552																																						ENST00000493429.1																			0											c.(1453-1455)gtC>gtT		amine oxidase, copper containing 1							70.0	77.0	75.0					7																	150555013		2164	4253	6417	SO:0001819	synonymous_variant	26							g.chr7:150555013C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1455C>T	7.37:g.150555013C>T						AOC1_ENST00000360937.4_Silent_p.V485V|AOC1_ENST00000416793.2_Silent_p.V485V|AOC1_ENST00000467291.1_Silent_p.V485V	p.V485V							4	2039	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.1455C>T	CCDS43679.1																																																																																				0.552	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		23	83	0	0	0	1	0	23	83				
JADE3	9767	broad.mit.edu	37	X	46884202	46884202	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:46884202A>G	ENST00000218343.4	+	5	659	c.361A>G	c.(361-363)Aca>Gca	p.T121A	PHF16_ENST00000397189.1_Missense_Mutation_p.T121A	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CCCAGACACCACAGAGCCTGG	0.463																																						ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(361-363)Aca>Gca									122.0	95.0	104.0					X																	46884202		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46884202A>G																												ENST00000218343.4:c.361A>G	X.37:g.46884202A>G	ENSP00000218343:p.Thr121Ala					PHF16_ENST00000397189.1_Missense_Mutation_p.T121A	p.T121A	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			5	659	+			121						Missense_Mutation	SNP	ENST00000218343.4	37	c.361A>G	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	A	4.549	0.101964	0.08731	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343	T;T;T	0.41758	0.99;0.99;0.99	5.79	-11.6	0.00059	Enhancer of polycomb-like, N-terminal (1);	0.649316	0.16270	N	0.221810	T	0.16041	0.0386	N	0.15975	0.35	0.20926	N	0.99983	B	0.02656	0.0	B	0.04013	0.001	T	0.11767	-1.0574	10	0.11485	T	0.65	.	11.3873	0.49793	0.1801:0.0:0.5721:0.2478	.	121	Q92613	JADE3_HUMAN	A	121	ENSP00000391009:T121A;ENSP00000380373:T121A;ENSP00000218343:T121A	ENSP00000218343:T121A	T	+	1	0	PHF16	46769146	0.000000	0.05858	0.000000	0.03702	0.518000	0.34316	-0.510000	0.06328	-3.884000	0.00095	-0.443000	0.05667	ACA		0.463	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			19	56	0	0	0	1	0	19	56				
ATP11C	286410	broad.mit.edu	37	X	138886675	138886675	+	Silent	SNP	G	G	C			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:138886675G>C	ENST00000327569.3	-	6	617	c.519C>G	c.(517-519)acC>acG	p.T173T	ATP11C_ENST00000370543.1_Silent_p.T173T|ATP11C_ENST00000370557.1_Silent_p.T170T|ATP11C_ENST00000359686.2_Silent_p.T173T|ATP11C_ENST00000361648.2_Silent_p.T173T	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	173					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGACATAACAGGTTCCATCAG	0.393																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(508-510)acC>acG		ATPase, class VI, type 11C							218.0	192.0	200.0					X																	138886675		2203	4300	6503	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138886675G>C	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.519C>G	X.37:g.138886675G>C						ATP11C_ENST00000327569.3_Silent_p.T173T|ATP11C_ENST00000370543.1_Silent_p.T173T|ATP11C_ENST00000361648.2_Silent_p.T173T|ATP11C_ENST00000359686.2_Silent_p.T173T	p.T170T			Q8NB49	AT11C_HUMAN			6	1537	-	Acute lymphoblastic leukemia(192;0.000127)		173					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.510C>G	CCDS14668.1																																																																																				0.393	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		74	182	0	0	0	1	0	74	182				
SLC4A8	9498	broad.mit.edu	37	12	51882579	51882579	+	Missense_Mutation	SNP	A	A	G	rs138940118		TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr12:51882579A>G	ENST00000453097.2	+	18	2600	c.2383A>G	c.(2383-2385)Atc>Gtc	p.I795V	SLC4A8_ENST00000358657.3_Missense_Mutation_p.I822V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCTCTGTACTATCTTGATATT	0.453																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(2383-2385)Atc>Gtc		solute carrier family 4, sodium bicarbonate cotransporter, member 8		A	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	120.0	100.0	107.0		2383,2383	4.3	1.0	12	dbSNP_134	107	0,8600		0,0,4300	no	missense,missense	SLC4A8	NM_001039960.1,NM_004858.2	29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	795/1094,795/1045	51882579	1,13005	2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51882579A>G	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2383A>G	12.37:g.51882579A>G	ENSP00000405812:p.Ile795Val					SLC4A8_ENST00000358657.3_Missense_Mutation_p.I822V	p.I795V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	18	2600	+			795						Missense_Mutation	SNP	ENST00000453097.2	37	c.2383A>G	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048654	0.75846	2.27E-4	0.0	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	D;D	0.83591	-1.74;-1.74	4.26	4.26	0.50523	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.84433	2.695	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.994	D;D;D	0.91635	0.966;0.999;0.998	D	0.92480	0.5992	10	0.87932	D	0	.	13.0695	0.59053	1.0:0.0:0.0:0.0	.	822;795;795	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	V	822;795;795;742	ENSP00000351483:I822V;ENSP00000405812:I795V	ENSP00000315789:I795V	I	+	1	0	SLC4A8	50168846	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.284000	0.95882	1.871000	0.54225	0.377000	0.23210	ATC		0.453	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		6	86	0	0	0	1	0	6	86				
MFNG	4242	broad.mit.edu	37	22	37882152	37882152	+	Silent	SNP	G	G	A			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr22:37882152G>A	ENST00000356998.3	-	1	287	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	MFNG_ENST00000416983.3_Silent_p.L22L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	22					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CGCAGACACAGGAGCCCCATG	0.682																																						ENST00000356998.3																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(64-66)Ctg>Ttg		MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							23.0	27.0	26.0					22																	37882152		2203	4300	6503	SO:0001819	synonymous_variant	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37882152G>A	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.64C>T	22.37:g.37882152G>A						MFNG_ENST00000416983.3_Silent_p.L22L	p.L22L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN			1	287	-	Melanoma(58;0.0574)		22					B4DLT6|O43730|Q504S9	Silent	SNP	ENST00000356998.3	37	c.64C>T	CCDS13947.1																																																																																				0.682	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		9	41	0	0	0	1	0	9	41				
ZNF182	7569	broad.mit.edu	37	X	47836606	47836606	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:47836606C>T	ENST00000396965.1	-	7	1230	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	ZNF182_ENST00000305127.6_Missense_Mutation_p.E294K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E275K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTTCCACATTCAGGACACTCA	0.398																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(880-882)Gaa>Aaa		zinc finger protein 182							88.0	77.0	81.0					X																	47836606		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836606C>T	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.880G>A	X.37:g.47836606C>T	ENSP00000380165:p.Glu294Lys					ZNF182_ENST00000305127.6_Missense_Mutation_p.E294K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E275K	p.E294K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	1230	-			294					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.880G>A	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269928	0.59540	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.07327	3.2;3.2;3.2	4.53	3.66	0.41972	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11024	0.0269	N	0.05199	-0.095	0.26960	N	0.965821	P;D;P	0.57899	0.633;0.981;0.933	P;D;P	0.64144	0.679;0.922;0.497	T	0.27739	-1.0065	9	0.62326	D	0.03	.	11.5562	0.50750	0.0:0.8223:0.1777:0.0	.	274;275;294	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	K	275;294;294	ENSP00000366142:E275K;ENSP00000380165:E294K;ENSP00000306351:E294K	ENSP00000306351:E294K	E	-	1	0	ZNF182	47721550	0.000000	0.05858	0.914000	0.36105	0.993000	0.82548	-0.062000	0.11674	1.032000	0.39892	0.594000	0.82650	GAA		0.398	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		36	87	0	0	0	1	0	36	87				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			24	58	0	0	0	1	0	24	58				
ITGAL	3683	broad.mit.edu	37	16	30500576	30500576	+	Splice_Site	SNP	G	G	A			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr16:30500576G>A	ENST00000356798.6	+	11	1262	c.1082G>A	c.(1081-1083)gGc>gAc	p.G361D	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000358164.5_Splice_Site_p.G278D|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	361					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CCTGGGCAGGGCCATGCAGTC	0.622																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.e11-1		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						60.0	58.0	59.0					16																	30500576		2197	4300	6497	SO:0001630	splice_region_variant	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30500576G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1081-1G>A	16.37:g.30500576G>A						RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Splice_Site_p.G278_splice|ITGAL_ENST00000568012.1_Intron	p.G361_splice	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			11	1262	+			361					O43746|Q45H73|Q96HB1|Q9UBC8	Splice_Site	SNP	ENST00000356798.6	37	c.1080_splice	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082109	0.36758	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	D;D	0.83591	-1.74;-1.74	5.58	0.224	0.15297	.	0.613258	0.15546	N	0.256718	T	0.63850	0.2546	N	0.16903	0.455	0.31012	N	0.719069	B;B	0.19200	0.034;0.004	B;B	0.21917	0.037;0.01	T	0.54397	-0.8300	10	0.02654	T	1	.	8.9205	0.35607	0.4694:0.0:0.5306:0.0	.	278;361	Q96HB1;P20701	.;ITAL_HUMAN	D	361;278	ENSP00000349252:G361D;ENSP00000350886:G278D	ENSP00000349252:G361D	G	+	2	0	ITGAL	30408077	0.082000	0.21442	0.280000	0.24747	0.924000	0.55760	0.065000	0.14466	-0.152000	0.11156	-0.136000	0.14681	GGC		0.622	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		Missense_Mutation	20	54	0	0	0	1	0	20	54				
FFAR3	2865	broad.mit.edu	37	19	35850686	35850686	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr19:35850686G>A	ENST00000327809.4	+	2	1095	c.894G>A	c.(892-894)tgG>tgA	p.W298*	FFAR3_ENST00000594310.1_Nonsense_Mutation_p.W298*	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	298					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTGGGCTCTGGGGCCAGTGGC	0.587																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4																			0				endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(892-894)tgG>tgA		free fatty acid receptor 3							27.0	22.0	24.0					19																	35850686		2200	4274	6474	SO:0001587	stop_gained	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850686G>A	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.894G>A	19.37:g.35850686G>A	ENSP00000328230:p.Trp298*					FFAR3_ENST00000594310.1_Nonsense_Mutation_p.W298*	p.W298*	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	1095	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		298					B2RWM8|Q14CM7	Nonsense_Mutation	SNP	ENST00000327809.4	37	c.894G>A	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685439	0.47991	.	.	ENSG00000185897	ENST00000327809	.	.	.	4.5	-0.717	0.11208	.	1.253580	0.05772	U	0.606881	.	.	.	.	.	.	0.50813	D	0.999897	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-4.4155	7.1009	0.25336	0.0:0.1874:0.3498:0.4628	.	.	.	.	X	298	.	ENSP00000328230:W298X	W	+	3	0	FFAR3	40542526	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.410000	0.07151	-0.224000	0.09928	-0.493000	0.04662	TGG		0.587	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		7	48	0	0	0	1	0	7	48				
SLC25A39	51629	broad.mit.edu	37	17	42400903	42400903	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr17:42400903T>C	ENST00000377095.5	-	2	147	c.28A>G	c.(28-30)Agc>Ggc	p.S10G	SLC25A39_ENST00000590194.1_Missense_Mutation_p.S10G|SLC25A39_ENST00000225308.8_Missense_Mutation_p.S10G|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000537904.2_Missense_Mutation_p.S10G	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	10					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGAGGGGGCTGATGCCCGCA	0.612																																						ENST00000225308.8																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(28-30)Agc>Ggc		solute carrier family 25, member 39							17.0	17.0	17.0					17																	42400903		2197	4295	6492	SO:0001583	missense	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42400903T>C	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.28A>G	17.37:g.42400903T>C	ENSP00000366299:p.Ser10Gly					SLC25A39_ENST00000590194.1_Missense_Mutation_p.S10G|SLC25A39_ENST00000377095.5_Missense_Mutation_p.S10G|SLC25A39_ENST00000537904.2_Missense_Mutation_p.S10G|SLC25A39_ENST00000586016.1_Intron	p.S10G	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	2	202	-		Prostate(33;0.0233)	10					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	c.28A>G	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250098	0.39797	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.79454	-1.27;-1.27;-1.27	4.48	4.48	0.54585	Mitochondrial carrier domain (2);	0.170491	0.50627	D	0.000107	T	0.78149	0.4238	N	0.25094	0.71	0.39117	D	0.961589	D;D;B;P;B	0.69078	0.991;0.997;0.18;0.949;0.334	D;D;B;P;B	0.66351	0.911;0.943;0.178;0.842;0.251	T	0.78303	-0.2256	10	0.32370	T	0.25	-2.2901	13.6319	0.62200	0.0:0.0:0.0:1.0	.	10;10;10;10;10	B4DVL9;B4DI93;B4DFG5;Q9BZJ4;Q9BZJ4-2	.;.;.;S2539_HUMAN;.	G	10	ENSP00000225308:S10G;ENSP00000366299:S10G;ENSP00000444540:S10G	ENSP00000225308:S10G	S	-	1	0	SLC25A39	39756429	0.992000	0.36948	0.934000	0.37439	0.023000	0.10783	2.301000	0.43628	1.896000	0.54893	0.533000	0.62120	AGC		0.612	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		2	11	0	0	0	1	0	2	11				
TMEM68	137695	broad.mit.edu	37	8	56663637	56663637	+	Silent	SNP	G	G	A			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr8:56663637G>A	ENST00000434581.2	-	5	772	c.573C>T	c.(571-573)caC>caT	p.H191H	TMEM68_ENST00000519784.1_Silent_p.H77H|TMEM68_ENST00000334667.2_Silent_p.H191H|TMEM68_ENST00000523073.1_Silent_p.H77H			Q96MH6	TMM68_HUMAN	transmembrane protein 68	191						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TAGCTAACAAGTGGCCACTCC	0.418																																						ENST00000434581.2																			0				NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(571-573)caC>caT		transmembrane protein 68							94.0	93.0	94.0					8																	56663637		2203	4300	6503	SO:0001819	synonymous_variant	137695					integral to membrane	acyltransferase activity	g.chr8:56663637G>A	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.573C>T	8.37:g.56663637G>A						TMEM68_ENST00000519784.1_Silent_p.H77H|TMEM68_ENST00000523073.1_Silent_p.H77H|TMEM68_ENST00000334667.2_Silent_p.H191H	p.H191H			Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		5	772	-			191					Q658X6|Q8WUD2	Silent	SNP	ENST00000434581.2	37	c.573C>T																																																																																					0.418	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		20	86	0	0	0	1	0	20	86				
DST	667	broad.mit.edu	37	6	56420389	56420389	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr6:56420389T>C	ENST00000361203.3	-	56	14264	c.14257A>G	c.(14257-14259)Agt>Ggt	p.S4753G	DST_ENST00000370788.2_Missense_Mutation_p.S2667G|DST_ENST00000446842.2_Missense_Mutation_p.S4429G|DST_ENST00000370754.5_Missense_Mutation_p.S4933G|DST_ENST00000370769.4_Missense_Mutation_p.S4755G|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.S2341G|DST_ENST00000421834.2_Missense_Mutation_p.S2667G			Q03001	DYST_HUMAN	dystonin	4753					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCAAGTCACTCAGTTTATCA	0.453																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(14797-14799)Agt>Ggt		dystonin							95.0	92.0	93.0					6																	56420389		1912	4149	6061	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56420389T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14257A>G	6.37:g.56420389T>C	ENSP00000354508:p.Ser4753Gly					DST_ENST00000361203.3_Missense_Mutation_p.S4753G|DST_ENST00000244364.6_Missense_Mutation_p.S2341G|DST_ENST00000370769.4_Missense_Mutation_p.S4755G|DST_ENST00000446842.2_Missense_Mutation_p.S4429G|DST_ENST00000370788.2_Missense_Mutation_p.S2667G|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S2667G	p.S4933G			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		60	14796	-	Lung NSC(77;0.103)		4753					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.14797A>G		.	.	.	.	.	.	.	.	.	.	T	9.763	1.170608	0.21621	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.42513	1.15;1.32;1.32;1.32;0.97;1.32;1.32	5.66	-0.901	0.10540	.	0.625591	0.15512	N	0.258473	T	0.14227	0.0344	L	0.43152	1.355	0.25322	N	0.989109	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.0	B;B;B;B;B	0.13407	0.001;0.002;0.009;0.001;0.0	T	0.22730	-1.0208	9	0.22706	T	0.39	.	11.1476	0.48440	0.0:0.3532:0.0:0.6468	.	2667;4755;4933;4753;2341	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	G	2341;4933;4755;2667;4429;2667;4753	ENSP00000244364:S2341G;ENSP00000359790:S4933G;ENSP00000359805:S4755G;ENSP00000400883:S2667G;ENSP00000393645:S4429G;ENSP00000359824:S2667G;ENSP00000354508:S4753G	ENSP00000244364:S2341G	S	-	1	0	DST	56528348	0.011000	0.17503	0.035000	0.18076	0.991000	0.79684	0.304000	0.19228	-0.291000	0.09012	0.528000	0.53228	AGT		0.453	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	63	0	0	0	1	0	7	63				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	38	0	0	0	1	0	4	38				
CCDC88A	55704	broad.mit.edu	37	2	55582839	55582839	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr2:55582839G>A	ENST00000436346.1	-	8	1517	c.676C>T	c.(676-678)Cat>Tat	p.H226Y	CCDC88A_ENST00000263630.8_Missense_Mutation_p.H226Y|CCDC88A_ENST00000336838.6_Missense_Mutation_p.H226Y|CCDC88A_ENST00000413716.2_Missense_Mutation_p.H226Y	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	226					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GAAGAGGCATGGGGTAGAAAA	0.443																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(676-678)Cat>Tat		coiled-coil domain containing 88A							97.0	82.0	87.0					2																	55582839		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55582839G>A	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.676C>T	2.37:g.55582839G>A	ENSP00000410608:p.His226Tyr					CCDC88A_ENST00000336838.6_Missense_Mutation_p.H226Y|CCDC88A_ENST00000413716.2_Missense_Mutation_p.H226Y|CCDC88A_ENST00000263630.8_Missense_Mutation_p.H226Y	p.H226Y	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			8	1517	-			226					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.676C>T		.	.	.	.	.	.	.	.	.	.	G	8.177	0.792970	0.16327	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.05	5.05	0.67936	.	0.131264	0.34411	U	0.004000	T	0.34600	0.0903	N	0.14661	0.345	0.80722	D	1	B;P;P	0.36125	0.261;0.478;0.538	B;B;B	0.40602	0.334;0.134;0.192	T	0.29671	-1.0004	10	0.51188	T	0.08	-15.073	18.7498	0.91809	0.0:0.0:1.0:0.0	.	226;226;226	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	Y	226	ENSP00000338728:H226Y;ENSP00000263630:H226Y;ENSP00000410608:H226Y;ENSP00000404431:H226Y	ENSP00000263630:H226Y	H	-	1	0	CCDC88A	55436343	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.315000	0.78998	2.518000	0.84900	0.591000	0.81541	CAT		0.443	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		18	50	0	0	0	1	0	18	50				
PBX2P1	5088	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-	rs373179673	byFrequency	TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr3:142895155delC	ENST00000560287.1	+	0	29									pre-B-cell leukemia homeobox 2 pseudogene 1																		GGCCTCAGGGCCCCCCCCCAG	0.746													|||unknown(ALL_OTHER_Ns)	2344	0.468051	0.7186	0.3357	5008	,	,		7117	0.2887		0.4036	False		,,,				2504	0.4744					ENST00000560287.1																			0																																																			0							g.chr3:142895155delC			3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142895155delC														0	29	+									RNA	DEL	ENST00000560287.1	37																																																																																						0.746	PBX2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417717.1	NG_002434		5	5						5	5	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29556985	29556985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr17:29556985delC	ENST00000358273.4	+	22	3366	c.2983delC	c.(2983-2985)ctgfs	p.L995fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.L995fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	995					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATGTTAAATCTGGTCAGGTA	0.348			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2983-2985)tgfs		neurofibromin 1							91.0	91.0	91.0					17																	29556985		2202	4298	6500	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556985delC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2983delC	17.37:g.29556985delC	ENSP00000351015:p.Leu995fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.L995fs	p.L995fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	22	3366	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	995					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.2983delC	CCDS42292.1																																																																																				0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		41	120						41	120	---	---	---	---
NKPD1	284353	broad.mit.edu	37	19	45655769	45655771	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr19:45655769_45655771delCTG	ENST00000438936.2	-	3	1469_1471	c.1258_1260delCAG	c.(1258-1260)cagdel	p.Q420del	AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000317951.4_In_Frame_Del_p.Q642del			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	420	Poly-Gln.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAAAGTCCCCCTGCTGCTGCTGC	0.704																																						ENST00000317951.4																			0				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8						c.(1924-1926)del		NTPase, KAP family P-loop domain containing 1				80,72,3002		15,0,50,16,40,1456						2.5	0.9			7	8,143,6913		1,0,6,18,107,3400	no	codingComplex	NKPD1	NM_198478.3		16,0,56,34,147,4856	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1376,4.8193,2.9654				88,215,9915				SO:0001651	inframe_deletion	284353							g.chr19:45655769_45655771delCTG	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1258_1260delCAG	19.37:g.45655778_45655780delCTG	ENSP00000401739:p.Gln420del					NKPD1_ENST00000438936.2_In_Frame_Del_p.Q420del|NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del	p.Q642del	NM_198478.3	NP_940880.3				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1923_1925	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	In_Frame_Del	DEL	ENST00000438936.2	37	c.1924_1926delCAG																																																																																					0.704	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		2	4						2	4	---	---	---	---
