#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
ARID1A	8289	broad.mit.edu	37	1	27106176	27106176	+	Missense_Mutation	SNP	T	T	G			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr1:27106176T>G	ENST00000324856.7	+	20	6158	c.5787T>G	c.(5785-5787)agT>agG	p.S1929R	ARID1A_ENST00000540690.1_Missense_Mutation_p.S257R|ARID1A_ENST00000374152.2_Missense_Mutation_p.S1546R|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1712R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1929					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAGCTAAGAGTTCAGAGGCCA	0.532			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0		p.K1928*(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5785-5787)agT>agG		Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.							128.0	125.0	126.0					1																	27106176		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106176T>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5787T>G	1.37:g.27106176T>G	ENSP00000320485:p.Ser1929Arg					ARID1A_uc001bmu.1_Missense_Mutation_p.S1712R|ARID1A_uc001bmx.1_Missense_Mutation_p.S775R|ARID1A_uc009vsm.1_Missense_Mutation_p.S257R|ARID1A_uc009vsn.1_Missense_Mutation_p.S171R	p.S1929R	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	19	6160	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1929					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.5787T>G	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.066|5.066	0.197893|0.197893	0.09652|0.09652	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|T;T;T;T	.|0.10382	.|4.47;4.29;4.29;2.88	4.84|4.84	3.7|3.7	0.42460|0.42460	.|.	.|0.502799	.|0.24869	.|N	.|0.034947	T|T	0.03739|0.03739	0.0106|0.0106	N|N	0.02539|0.02539	-0.55|-0.55	0.22050|0.22050	N|N	0.999392|0.999392	.|B;B;B	.|0.26483	.|0.15;0.0;0.0	.|B;B;B	.|0.19148	.|0.024;0.0;0.0	T|T	0.42949|0.42949	-0.9421|-0.9421	5|10	.|0.12103	.|T	.|0.63	-0.2524|-0.2524	10.8152|10.8152	0.46571|0.46571	0.0:0.0751:0.0:0.9249|0.0:0.0751:0.0:0.9249	.|.	.|1546;1929;1712	.|O14497-3;O14497;O14497-2	.|.;ARI1A_HUMAN;.	V|R	826|1929;1712;1546;257	.|ENSP00000320485:S1929R;ENSP00000387636:S1712R;ENSP00000363267:S1546R;ENSP00000442437:S257R	.|ENSP00000320485:S1929R	F|S	+|+	1|3	0|2	ARID1A|ARID1A	26978763|26978763	0.780000|0.780000	0.28664|0.28664	0.965000|0.965000	0.40720|0.40720	0.287000|0.287000	0.27160|0.27160	1.918000|1.918000	0.40006|0.40006	0.966000|0.966000	0.38159|0.38159	0.402000|0.402000	0.26972|0.26972	TTC|AGT		0.532	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
NBPF10	100132406	broad.mit.edu	37	1	145299838	145299838	+	Missense_Mutation	SNP	G	G	A	rs200473325	byFrequency	TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr1:145299838G>A	ENST00000369338.1	+	2	264	c.74G>A	c.(73-75)cGc>cAc	p.R25H	NBPF10_ENST00000342960.5_Missense_Mutation_p.R296H|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	296						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R296H(3)|p.R25H(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGAAATTGCGCCCCCAGCTG	0.488																																						uc021oul.1																			6	Substitution - Missense(6)	p.R296H(6)|p.R25H(3)	endometrium(4)|urinary_tract(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(886-888)cGc>cAc		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.							15.0	13.0	13.0					1																	145299838		690	1577	2267	SO:0001583	missense	100132406							g.chr1:145299838G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.74G>A	1.37:g.145299838G>A	ENSP00000358344:p.Arg25His					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.R296H|NBPF10_uc010oyi.2_5'Flank|NBPF10_uc001emq.1_Intron	p.R296H	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	5	922	+	all_hematologic(923;0.032)		296					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37	c.887G>A		.	.	.	.	.	.	.	.	.	.	.	2.633	-0.285860	0.05605	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.03301	4.04;3.98	1.05	-2.1	0.07210	.	.	.	.	.	T	0.01905	0.0060	.	.	.	0.09310	N	1	D	0.59767	0.986	P	0.53006	0.715	T	0.27088	-1.0084	8	0.31617	T	0.26	.	5.8606	0.18745	0.445:0.0:0.555:0.0	.	25	Q86T75-2	.	H	221;25;25;296	ENSP00000358344:R25H;ENSP00000345684:R296H	ENSP00000345684:R296H	R	+	2	0	NBPF10	144011195	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.156000	0.03160	-1.371000	0.02141	-1.477000	0.00996	CGC		0.488	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703	
OR2L3	391192	broad.mit.edu	37	1	248224277	248224277	+	Silent	SNP	T	T	A			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr1:248224277T>A	ENST00000359959.3	+	1	294	c.294T>A	c.(292-294)atT>atA	p.I98I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGTGTGGGATTCAGAGTTTCT	0.428																																						uc001idx.1																			0		p.G97A(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(292-294)atT>atA		Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.							221.0	246.0	238.0					1																	248224277		2203	4300	6503	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224277T>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.294T>A	1.37:g.248224277T>A						OR2L13_uc001ids.3_Intron	p.I98I	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		0	294	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		98					B9EH44	Silent	SNP	ENST00000359959.3	37	c.294T>A	CCDS31104.1																																																																																				0.428	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687	
SYT13	57586	broad.mit.edu	37	11	45273992	45273992	+	Missense_Mutation	SNP	C	C	T	rs559653118	byFrequency	TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:45273992C>T	ENST00000020926.3	-	4	937	c.826G>A	c.(826-828)Gag>Aag	p.E276K	CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	276					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GTCTTCAGCTCGCCCCACTGG	0.632											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	7	0.00139776	0.0	0.0	5008	,	,		19844	0.0		0.0	False		,,,				2504	0.0072					uc001myq.2																			0				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(826-828)Gag>Aag		Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.							63.0	65.0	65.0					11																	45273992		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45273992C>T	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.826G>A	11.37:g.45273992C>T	ENSP00000020926:p.Glu276Lys		OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	SYT13_uc009yku.1_Missense_Mutation_p.E132K	p.E276K	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN			3	952	-			276					A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.826G>A	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599737	0.66332	.	.	ENSG00000019505	ENST00000020926	T	0.08458	3.09	5.59	4.66	0.58398	C2 calcium/lipid-binding domain, CaLB (1);	0.201745	0.43260	D	0.000598	T	0.05914	0.0154	N	0.19112	0.55	0.35882	D	0.82899	B	0.10296	0.003	B	0.04013	0.001	T	0.17319	-1.0373	10	0.56958	D	0.05	.	7.9352	0.29925	0.0:0.731:0.1611:0.1079	.	276	Q7L8C5	SYT13_HUMAN	K	276	ENSP00000020926:E276K	ENSP00000020926:E276K	E	-	1	0	SYT13	45230568	0.998000	0.40836	0.875000	0.34327	0.930000	0.56654	4.105000	0.57797	1.315000	0.45114	0.561000	0.74099	GAG		0.632	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826	
MAPK8IP1	9479	broad.mit.edu	37	11	45927211	45927211	+	Missense_Mutation	SNP	A	A	G			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:45927211A>G	ENST00000241014.2	+	12	2245	c.2075A>G	c.(2074-2076)cAg>cGg	p.Q692R	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.Q682R|RP11-618K13.2_ENST00000533218.1_RNA	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	692	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		AGAGCATTCCAGCAGTTCTAC	0.597																																						uc001nbr.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(2074-2076)cAg>cGg		Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.							219.0	201.0	207.0					11																	45927211		2203	4299	6502	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45927211A>G		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.2075A>G	11.37:g.45927211A>G	ENSP00000241014:p.Gln692Arg						p.Q692R	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	11	2400	+			692			PID.		D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.2075A>G	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.135258	0.56828	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.14516	2.5;2.5	5.28	4.13	0.48395	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.122178	0.56097	D	0.000024	T	0.17365	0.0417	L	0.54323	1.7	0.58432	D	0.999997	B	0.28128	0.201	B	0.36092	0.217	T	0.02958	-1.1089	10	0.29301	T	0.29	-35.7095	12.3406	0.55091	0.8586:0.1414:0.0:0.0	.	692	Q9UQF2	JIP1_HUMAN	R	692;682	ENSP00000241014:Q692R;ENSP00000378991:Q682R	ENSP00000241014:Q692R	Q	+	2	0	MAPK8IP1	45883787	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	6.107000	0.71517	1.002000	0.39104	0.533000	0.62120	CAG		0.597	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456	
PTPRJ	5795	broad.mit.edu	37	11	48185118	48185118	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:48185118C>T	ENST00000418331.2	+	23	4019	c.3667C>T	c.(3667-3669)Cgt>Tgt	p.R1223C		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1223	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTACCTCGTTCGTGACTACAT	0.517																																						uc001ngp.4																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3667-3669)Cgt>Tgt		Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.							142.0	97.0	112.0					11																	48185118		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48185118C>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3667C>T	11.37:g.48185118C>T	ENSP00000400010:p.Arg1223Cys						p.R1223C	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			22	4022	+			1223			Tyrosine-protein phosphatase.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.3667C>T	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238118	0.79800	.	.	ENSG00000149177	ENST00000418331	D	0.84800	-1.9	5.44	4.45	0.53987	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	.	.	.	.	D	0.93609	0.7959	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93733	0.7043	9	0.87932	D	0	.	7.7562	0.28925	0.1737:0.7345:0.0:0.0918	.	1223	Q12913	PTPRJ_HUMAN	C	1223	ENSP00000400010:R1223C	ENSP00000400010:R1223C	R	+	1	0	PTPRJ	48141694	0.953000	0.32496	0.994000	0.49952	0.995000	0.86356	1.472000	0.35376	2.545000	0.85829	0.650000	0.86243	CGT		0.517	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1		
ZNF202	7753	broad.mit.edu	37	11	123597645	123597645	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:123597645T>C	ENST00000529691.1	-	7	1226	c.1007A>G	c.(1006-1008)gAg>gGg	p.E336G	ZNF202_ENST00000530393.1_Missense_Mutation_p.E336G|ZNF202_ENST00000336139.4_Missense_Mutation_p.E336G			O95125	ZN202_HUMAN	zinc finger protein 202	336					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GTGTATATCCTCCAAACTCAG	0.453																																						uc001pzd.1																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1006-1008)gAg>gGg		Homo sapiens zinc finger protein 202 (ZNF202), mRNA.							138.0	162.0	154.0					11																	123597645		2198	4279	6477	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123597645T>C	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1007A>G	11.37:g.123597645T>C	ENSP00000433881:p.Glu336Gly					ZNF202_uc001pzc.1_Missense_Mutation_p.E112G|ZNF202_uc001pze.1_Missense_Mutation_p.E336G|ZNF202_uc001pzf.1_Missense_Mutation_p.E336G	p.E336G	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	8	1407	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	336					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.1007A>G	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	T	7.805	0.714427	0.15306	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.07444	3.19;3.19;3.19	4.02	4.02	0.46733	.	0.138072	0.33023	N	0.005363	T	0.13200	0.0320	N	0.22421	0.69	0.32283	N	0.56734	D	0.71674	0.998	D	0.78314	0.991	T	0.08617	-1.0713	10	0.23891	T	0.37	-16.5161	9.5055	0.39044	0.0:0.0:0.0:1.0	.	336	O95125	ZN202_HUMAN	G	336	ENSP00000337724:E336G;ENSP00000432504:E336G;ENSP00000433881:E336G	ENSP00000337724:E336G	E	-	2	0	ZNF202	123102855	0.838000	0.29461	0.641000	0.29422	0.348000	0.29142	3.903000	0.56318	1.806000	0.52798	0.533000	0.62120	GAG		0.453	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455	
B3GAT1	27087	broad.mit.edu	37	11	134253884	134253884	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:134253884C>T	ENST00000524765.1	-	3	4855	c.311G>A	c.(310-312)cGc>cAc	p.R104H	B3GAT1_ENST00000312527.4_Missense_Mutation_p.R104H|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R117H|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R104H|B3GAT1_ENST00000531510.1_5'Flank			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	104					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GTTGGCCATGCGCGTCAGCTC	0.716																																						uc001qhq.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(310-312)cGc>cAc		Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.							34.0	26.0	29.0					11																	134253884		2197	4293	6490	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253884C>T	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.311G>A	11.37:g.134253884C>T	ENSP00000433847:p.Arg104His					B3GAT1_uc001qhr.3_Missense_Mutation_p.R104H|B3GAT1_uc010scv.1_Missense_Mutation_p.R117H	p.R104H	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	3	572	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	104					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.311G>A	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	36	5.870475	0.97049	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79305	-0.1858	10	0.87932	D	0	-25.2544	18.702	0.91623	0.0:1.0:0.0:0.0	.	117;104	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	H	104;104;104;117	ENSP00000376359:R104H;ENSP00000307875:R104H;ENSP00000433847:R104H;ENSP00000445983:R117H	ENSP00000307875:R104H	R	-	2	0	B3GAT1	133759094	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.799000	0.85936	2.420000	0.82092	0.561000	0.74099	CGC		0.716	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644	
PDZRN4	29951	broad.mit.edu	37	12	41967365	41967365	+	Silent	SNP	C	C	T	rs377624610		TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr12:41967365C>T	ENST00000402685.2	+	10	2792	c.2784C>T	c.(2782-2784)gaC>gaT	p.D928D	PDZRN4_ENST00000298919.7_Silent_p.D668D|PDZRN4_ENST00000539469.2_Silent_p.D670D	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	928							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGACCACAGACGATGACACCA	0.562																																						uc010skn.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(2782-2784)gaC>gaT		Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	94.0	87.0	90.0		2784,2010	-3.4	0.6	12		90	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	PDZRN4	NM_001164595.1,NM_013377.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	928/1037,670/779	41967365	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967365C>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2784C>T	12.37:g.41967365C>T						PDZRN4_uc001rmq.4_Silent_p.D670D|PDZRN4_uc009zjz.3_Silent_p.D668D|PDZRN4_uc001rmr.3_Silent_p.D555D	p.D928D	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN			9	2792	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	928					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	c.2784C>T	CCDS53777.1																																																																																				0.562	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	
LRRIQ1	84125	broad.mit.edu	37	12	85459127	85459127	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr12:85459127C>T	ENST00000393217.2	+	9	2540	c.2479C>T	c.(2479-2481)Cgc>Tgc	p.R827C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	827										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCCCTTCGACGCTGTGGATT	0.393																																						uc001tac.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2479-2481)Cgc>Tgc		Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.							133.0	126.0	128.0					12																	85459127		2203	4300	6503	SO:0001583	missense	84125							g.chr12:85459127C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2479C>T	12.37:g.85459127C>T	ENSP00000376910:p.Arg827Cys					LRRIQ1_uc021rbo.1_Missense_Mutation_p.R705C	p.R827C	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2590	+			827					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.2479C>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.373908	0.61624	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.10005	2.92	5.6	4.71	0.59529	.	0.317510	0.29239	N	0.012726	T	0.14917	0.0360	M	0.75777	2.31	0.40083	D	0.976155	B;B	0.30727	0.16;0.292	B;B	0.26614	0.019;0.071	T	0.02232	-1.1191	10	0.40728	T	0.16	.	12.7611	0.57365	0.0:0.924:0.0:0.076	.	827;802	Q96JM4;C9JI57	LRIQ1_HUMAN;.	C	827;802;827	ENSP00000376910:R827C	ENSP00000256007:R827C	R	+	1	0	LRRIQ1	83983258	0.985000	0.35326	0.826000	0.32828	0.477000	0.33069	2.742000	0.47434	1.377000	0.46286	0.585000	0.79938	CGC		0.393	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
LUM	4060	broad.mit.edu	37	12	91502172	91502172	+	Missense_Mutation	SNP	C	C	G			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr12:91502172C>G	ENST00000266718.4	-	2	1039	c.585G>C	c.(583-585)caG>caC	p.Q195H	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	195					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GTCTGGCTATCTGATTGAAGC	0.428																																						uc001tbm.3																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(583-585)caG>caC		Homo sapiens lumican (LUM), mRNA.							144.0	139.0	141.0					12																	91502172		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502172C>G	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.585G>C	12.37:g.91502172C>G	ENSP00000266718:p.Gln195His						p.Q195H	NM_002345	NP_002336	P51884	LUM_HUMAN			1	974	-			195					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.585G>C	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186396	0.38609	.	.	ENSG00000139329	ENST00000266718	T	0.57436	0.4	5.6	1.63	0.23807	.	0.111093	0.64402	D	0.000011	T	0.35508	0.0934	L	0.41492	1.28	0.43608	D	0.995973	B	0.19583	0.037	B	0.24701	0.055	T	0.06162	-1.0842	10	0.18710	T	0.47	-18.3371	3.7255	0.08473	0.0:0.417:0.1899:0.3931	.	195	P51884	LUM_HUMAN	H	195	ENSP00000266718:Q195H	ENSP00000266718:Q195H	Q	-	3	2	LUM	90026303	0.988000	0.35896	0.991000	0.47740	0.948000	0.59901	1.366000	0.34193	0.692000	0.31613	0.557000	0.71058	CAG		0.428	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345	
AKAP13	11214	broad.mit.edu	37	15	86286791	86286791	+	Silent	SNP	G	G	A	rs373781999		TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr15:86286791G>A	ENST00000394518.2	+	36	8222	c.8127G>A	c.(8125-8127)tcG>tcA	p.S2709S	RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000394510.2_Silent_p.S954S|AKAP13_ENST00000361243.2_Silent_p.S2713S|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2709	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.S2713S(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGCCCCCCTCGCCATCTGCAC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		17742	0.0		0.0	False		,,,				2504	0.001				Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - coding silent(1)	p.S2713S(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(8125-8127)tcG>tcA		Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.							117.0	125.0	123.0					15																	86286791		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86286791G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8127G>A	15.37:g.86286791G>A						AKAP13_uc002blu.1_Silent_p.S2713S|AKAP13_uc002blw.1_Silent_p.S1174S|AKAP13_uc002blx.1_Silent_p.S954S	p.S2709S	NM_007200	NP_009131	Q12802	AKP13_HUMAN			35	8297	+			2709			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.8127G>A	CCDS32319.1																																																																																				0.502	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
MLST8	64223	broad.mit.edu	37	16	2256651	2256651	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr16:2256651delG	ENST00000569417.1	+	4	689	c.335delG	c.(334-336)tggfs	p.W112fs	MLST8_ENST00000382450.4_Frame_Shift_Del_p.W111fs|MLST8_ENST00000397124.1_Frame_Shift_Del_p.W112fs|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000301725.7_Frame_Shift_Del_p.W131fs|MLST8_ENST00000565250.1_Frame_Shift_Del_p.W112fs|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301724.10_Frame_Shift_Del_p.W112fs|MLST8_ENST00000564088.1_Frame_Shift_Del_p.W112fs	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	112					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						GCCAGGATCTGGGACCTCAGG	0.642																																						uc002coy.3																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(334-336)tggfs		Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.							69.0	74.0	72.0					16																	2256651		1954	4136	6090	SO:0001589	frameshift_variant	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2256651delG		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.335delG	16.37:g.2256651delG	ENSP00000456405:p.Trp112fs					MLST8_uc002cpc.3_Frame_Shift_Del_p.W112fs|MLST8_uc010uvx.2_Frame_Shift_Del_p.W46fs|MLST8_uc002cpd.3_Frame_Shift_Del_p.W46fs|MLST8_uc002cpb.3_Frame_Shift_Del_p.W111fs|MLST8_uc002coz.3_Frame_Shift_Del_p.W112fs|MLST8_uc002cpe.3_Frame_Shift_Del_p.W112fs|MLST8_uc010uvy.2_Frame_Shift_Del_p.W112fs|MLST8_uc002cpf.3_Frame_Shift_Del_p.W112fs|MLST8_uc002cph.3_Non-coding_Transcript	p.W112fs	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN			3	726	+			112					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Frame_Shift_Del	DEL	ENST00000569417.1	37	c.335delG	CCDS10462.2																																																																																				0.642	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372	
ATP9B	374868	broad.mit.edu	37	18	77133909	77133909	+	Missense_Mutation	SNP	A	A	T			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr18:77133909A>T	ENST00000426216.2	+	28	3099	c.3082A>T	c.(3082-3084)Atg>Ttg	p.M1028L	ATP9B_ENST00000543761.1_Missense_Mutation_p.M349L|ATP9B_ENST00000307671.7_Missense_Mutation_p.M1028L	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1028					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CGGCATCCTCATGTATGGGGC	0.567																																						uc002lmx.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(3082-3084)Atg>Ttg		Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.							119.0	94.0	103.0					18																	77133909		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77133909A>T	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.3082A>T	18.37:g.77133909A>T	ENSP00000398076:p.Met1028Leu					ATP9B_uc002lmw.1_Missense_Mutation_p.M1028L|ATP9B_uc002lna.3_Missense_Mutation_p.M54L|ATP9B_uc002lnb.1_Missense_Mutation_p.H126L|ATP9B_uc010drb.3_Non-coding_Transcript	p.M1028L	NM_198531	NP_940933	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	27	3096	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	1028					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.3082A>T	CCDS12014.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.61|17.61	3.433244|3.433244	0.62844|0.62844	.|.	.|.	ENSG00000166377|ENSG00000166377	ENST00000359184|ENST00000426216;ENST00000307671;ENST00000543761	.|T;T;T	.|0.74421	.|-0.84;-0.84;-0.84	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74351|0.74351	0.3705|0.3705	M|M	0.64170|0.64170	1.965|1.965	0.80722|0.80722	D|D	1|1	P|P;P	0.41265|0.40066	0.744|0.701;0.685	B|B;B	0.41510|0.42282	0.359|0.213;0.382	T|T	0.75800|0.75800	-0.3190|-0.3190	7|10	.|0.42905	.|T	.|0.14	.|.	14.8251|14.8251	0.70104|0.70104	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	379|1028;1028	B3KSI8|O43861;O43861-2	.|ATP9B_HUMAN;.	L|L	126|1028;1028;349	.|ENSP00000398076:M1028L;ENSP00000304500:M1028L;ENSP00000442015:M349L	.|ENSP00000304500:M1028L	H|M	+|+	2|1	0|0	ATP9B|ATP9B	75234897|75234897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.601000|0.601000	0.36947|0.36947	8.822000|8.822000	0.92013|0.92013	1.957000|1.957000	0.56846|0.56846	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.567	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531	
DOT1L	84444	broad.mit.edu	37	19	2216705	2216705	+	Silent	SNP	G	G	A			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr19:2216705G>A	ENST00000398665.3	+	20	2385	c.2349G>A	c.(2347-2349)cgG>cgA	p.R783R	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	783					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGAGGCGGCACCTGAGCC	0.687																																						uc002lvc.1																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(229-231)cgG>cgA		Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.							27.0	32.0	30.0					19																	2216705		2073	4186	6259	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216705G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2349G>A	19.37:g.2216705G>A						DOT1L_uc002lvb.4_Silent_p.R783R|AX746733_uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.R77R	p.R77R	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	998	+		Hepatocellular(1079;0.137)	783					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.231G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295270	0.23564	.	.	ENSG00000104885	ENST00000440640	.	.	.	5.21	-7.56	0.01322	.	.	.	.	.	T	0.35098	0.0920	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42949	-0.9421	4	.	.	.	-19.0947	2.0783	0.03629	0.1805:0.2899:0.3392:0.1903	.	.	.	.	D	570	.	.	G	+	2	0	DOT1L	2167705	0.583000	0.26757	0.054000	0.19295	0.815000	0.46073	-0.223000	0.09177	-1.040000	0.03271	0.655000	0.94253	GGC		0.687	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482	
FUT5	2527	broad.mit.edu	37	19	5867010	5867010	+	Missense_Mutation	SNP	G	G	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr19:5867010G>C	ENST00000588525.1	-	2	814	c.727C>G	c.(727-729)Ccc>Gcc	p.P243A	FUT5_ENST00000252675.5_Missense_Mutation_p.P243A	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	243					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GTCCCCTTGGGCAGGGGCTTG	0.602																																						uc002mdo.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(727-729)Ccc>Gcc		Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.							61.0	63.0	62.0					19																	5867010		2201	4295	6496	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867010G>C		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.727C>G	19.37:g.5867010G>C	ENSP00000466880:p.Pro243Ala					FUT5_uc010duo.3_Missense_Mutation_p.P243A|FUT5_uc021uno.1_Missense_Mutation_p.P243A	p.P243A	NM_002034	NP_002025	Q11128	FUT5_HUMAN			1	898	-			243					A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.727C>G	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472472	0.26423	.	.	ENSG00000130383	ENST00000252675	T	0.29917	1.55	2.13	1.07	0.20283	.	0.132698	0.34314	U	0.004066	T	0.39200	0.1069	M	0.73430	2.235	0.09310	N	1	P	0.45902	0.868	P	0.56648	0.803	T	0.10706	-1.0618	10	0.30078	T	0.28	.	2.3471	0.04274	0.1847:0.0:0.5136:0.3017	.	243	Q11128	FUT5_HUMAN	A	243	ENSP00000252675:P243A	ENSP00000252675:P243A	P	-	1	0	FUT5	5818010	0.000000	0.05858	0.107000	0.21349	0.027000	0.11550	-0.782000	0.04643	1.206000	0.43276	0.400000	0.26472	CCC		0.602	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034	
NOSIP	51070	broad.mit.edu	37	19	50059597	50059597	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr19:50059597G>A	ENST00000596358.1	-	8	869	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	NOSIP_ENST00000391853.3_Missense_Mutation_p.R271C|NOSIP_ENST00000339093.3_Missense_Mutation_p.R274C	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	271					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		ATGATGTCGCGGTCTGTGAGT	0.632																																						uc002pok.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11						c.(811-813)Cgc>Tgc		Homo sapiens nitric oxide synthase interacting protein (NOSIP), mRNA.							115.0	89.0	98.0					19																	50059597		2203	4300	6503	SO:0001583	missense	51070				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50059597G>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.811C>T	19.37:g.50059597G>A	ENSP00000470034:p.Arg271Cys					NOSIP_uc002pol.3_Missense_Mutation_p.R271C	p.R271C	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	8	963	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	271					Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	c.811C>T	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380677	0.82792	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	D	0.86297	-2.1	5.37	4.31	0.51392	Zinc finger, RING/FYVE/PHD-type (1);	0.301038	0.32769	N	0.005670	D	0.88134	0.6355	L	0.49126	1.545	0.53005	D	0.999964	D	0.67145	0.996	P	0.56278	0.795	D	0.87992	0.2750	10	0.59425	D	0.04	-27.9917	10.3791	0.44101	0.0:0.0:0.619:0.381	.	271	Q9Y314	NOSIP_HUMAN	C	271	ENSP00000375726:R271C	ENSP00000343497:R271C	R	-	1	0	NOSIP	54751409	1.000000	0.71417	0.908000	0.35775	0.498000	0.33706	4.685000	0.61693	2.527000	0.85204	0.462000	0.41574	CGC		0.632	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1		
ANTXR1	84168	broad.mit.edu	37	2	69240637	69240637	+	Silent	SNP	C	C	T			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr2:69240637C>T	ENST00000303714.4	+	1	328	c.6C>T	c.(4-6)gcC>gcT	p.A2A	ANTXR1_ENST00000409829.3_Silent_p.A2A|ANTXR1_ENST00000409349.3_Silent_p.A2A	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	2					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGGCCATGGCCACGGCGGAGC	0.721									Familial Infantile Hemangioma																													uc002sfg.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(4-6)gcC>gcT		Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.							12.0	16.0	15.0					2																	69240637		2195	4282	6477	SO:0001819	synonymous_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69240637C>T	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.6C>T	2.37:g.69240637C>T						ANTXR1_uc002sfe.3_Silent_p.A2A|ANTXR1_uc002sff.3_Silent_p.A2A|ANTXR1_uc002sfd.2_Silent_p.A2A	p.A2A	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN			0	362	+			2					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Silent	SNP	ENST00000303714.4	37	c.6C>T	CCDS1892.1																																																																																				0.721	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208	
ADAM33	80332	broad.mit.edu	37	20	3652076	3652076	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:3652076T>C	ENST00000356518.2	-	17	2214	c.1973A>G	c.(1972-1974)cAc>cGc	p.H658R	ADAM33_ENST00000466620.1_Intron|ADAM33_ENST00000379861.4_Missense_Mutation_p.H658R|ADAM33_ENST00000350009.2_Intron	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	658	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCCGTGGCTGTGGCAGGCAGT	0.612																																						uc002wit.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(1972-1974)cAc>cGc		Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.							72.0	73.0	73.0					20																	3652076		2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3652076T>C	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1973A>G	20.37:g.3652076T>C	ENSP00000348912:p.His658Arg					ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.H658R|ADAM33_uc002wis.3_Intron|ADAM33_uc002wiu.3_Intron|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron	p.H658R	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			16	2060	-			658			EGF-like.		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.1973A>G	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.696963	0.48202	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000439201	T;T	0.78816	-1.21;-1.21	5.46	5.46	0.80206	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.81866	0.4913	M	0.70108	2.13	0.80722	D	1	P;P	0.51653	0.947;0.947	P;P	0.49752	0.621;0.599	D	0.84490	0.0610	9	0.72032	D	0.01	.	14.3521	0.66711	0.0:0.0:0.0:1.0	.	658;658	Q9BZ11;A2A2L3	ADA33_HUMAN;.	R	658;658;538	ENSP00000348912:H658R;ENSP00000369190:H658R	ENSP00000348912:H658R	H	-	2	0	ADAM33	3600076	1.000000	0.71417	0.907000	0.35723	0.008000	0.06430	3.655000	0.54460	2.069000	0.61940	0.459000	0.35465	CAC		0.612	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220	
CSRP2BP	57325	broad.mit.edu	37	20	18165284	18165284	+	Missense_Mutation	SNP	A	A	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:18165284A>C	ENST00000435364.3	+	9	2364	c.2023A>C	c.(2023-2025)Agt>Cgt	p.S675R	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.S547R|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.S674R	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	675	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CCCAGACTTCAGTGTTGTTGT	0.408																																						uc021wbb.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(2023-2025)Agt>Cgt		Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.							218.0	192.0	201.0					20																	18165284		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18165284A>C	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.2023A>C	20.37:g.18165284A>C	ENSP00000392318:p.Ser675Arg					CSRP2BP_uc002wqk.3_Missense_Mutation_p.S547R|CSRP2BP_uc010zru.2_Missense_Mutation_p.S546R	p.S675R	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN			8	2460	+			675			N-acetyltransferase.		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.2023A>C	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.910042	0.92107	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.84	5.84	0.93424	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.078523	0.85682	D	0.000000	T	0.69780	0.3149	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.981	T	0.75892	-0.3157	10	0.87932	D	0	-6.386	16.2167	0.82231	1.0:0.0:0.0:0.0	.	547;675	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	R	675;674;675;547	ENSP00000278816:S675R;ENSP00000366909:S674R;ENSP00000392318:S675R;ENSP00000425909:S547R	ENSP00000278816:S675R	S	+	1	0	CSRP2BP	18113284	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.228000	0.95250	2.231000	0.72958	0.533000	0.62120	AGT		0.408	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536	
SEMG2	6407	broad.mit.edu	37	20	43851863	43851863	+	Silent	SNP	T	T	A			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:43851863T>A	ENST00000372769.3	+	2	1680	c.1590T>A	c.(1588-1590)tcT>tcA	p.S530S		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	530	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CTGGTCAATCTGCAGATAGCA	0.388																																						uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1588-1590)tcT>tcA		Homo sapiens semenogelin II (SEMG2), mRNA.							96.0	82.0	87.0					20																	43851863		2203	4300	6503	SO:0001819	synonymous_variant	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851863T>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1590T>A	20.37:g.43851863T>A						SEMG2_uc002xnk.3_Silent_p.S530S|SEMG2_uc002xnl.3_Silent_p.S410S	p.S530S	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			1	1647	+		Myeloproliferative disorder(115;0.0122)	530			Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	ENST00000372769.3	37	c.1590T>A	CCDS13346.1																																																																																				0.388	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008	
ARFGAP1	55738	broad.mit.edu	37	20	61910293	61910293	+	Silent	SNP	G	G	A	rs143521520	byFrequency	TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:61910293G>A	ENST00000370283.4	+	7	713	c.573G>A	c.(571-573)ccG>ccA	p.P191P	ARFGAP1_ENST00000519604.1_Silent_p.P138P|ARFGAP1_ENST00000353546.3_Silent_p.P191P|ARFGAP1_ENST00000519273.2_Silent_p.P78P|ARFGAP1_ENST00000547204.1_Silent_p.P117P|ARFGAP1_ENST00000370275.4_Silent_p.P191P	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	191					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					ACACGCCACCGCCTCAGAAGA	0.597													G|||	18	0.00359425	0.0136	0.0	5008	,	,		18056	0.0		0.0	False		,,,				2504	0.0					uc002yem.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13						c.(571-573)ccG>ccA		Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.		G	,	51,4355	52.3+/-87.9	0,51,2152	146.0	123.0	131.0		573,573	-10.4	0.0	20	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous,coding-synonymous	ARFGAP1	NM_018209.2,NM_175609.1	,	0,52,6451	AA,AG,GG		0.0116,1.1575,0.3998	,	191/407,191/415	61910293	52,12954	2203	4300	6503	SO:0001819	synonymous_variant	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61910293G>A	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.573G>A	20.37:g.61910293G>A						ARFGAP1_uc011aas.1_Silent_p.P138P|ARFGAP1_uc011aat.1_Silent_p.P78P|ARFGAP1_uc002yel.3_Silent_p.P191P|ARFGAP1_uc002yen.3_Silent_p.P191P	p.P191P	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN			6	685	+	all_cancers(38;1.59e-09)		191					B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Silent	SNP	ENST00000370283.4	37	c.573G>A	CCDS13515.1																																																																																				0.597	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209	
IFNGR2	3460	broad.mit.edu	37	21	34809223	34809223	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr21:34809223T>C	ENST00000290219.6	+	7	1616	c.968T>C	c.(967-969)aTc>aCc	p.I323T	IFNGR2_ENST00000381995.1_Missense_Mutation_p.I342T|IFNGR2_ENST00000405436.1_Missense_Mutation_p.I244T|TMEM50B_ENST00000468874.2_5'UTR	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	323					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	GTGTCCATTATCTCGTTTCCG	0.502																																						uc002yrp.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(967-969)aTc>aCc		Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	Interferon gamma-1b(DB00033)						118.0	99.0	105.0					21																	34809223		2203	4300	6503	SO:0001583	missense	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34809223T>C		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.968T>C	21.37:g.34809223T>C	ENSP00000290219:p.Ile323Thr					TMEM50B_uc002yrs.2_Intron	p.I323T	NM_005534	NP_005525	P38484	INGR2_HUMAN			6	1616	+			323					Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	c.968T>C	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595479	0.46318	.	.	ENSG00000159128	ENST00000290219;ENST00000381995;ENST00000405436	T;T;T	0.75050	0.26;0.19;-0.9	4.79	4.79	0.61399	.	0.815631	0.10478	N	0.669990	T	0.65101	0.2659	L	0.38175	1.15	0.40883	D	0.984018	P;P	0.44734	0.842;0.842	B;B	0.37731	0.185;0.257	T	0.67252	-0.5717	10	0.72032	D	0.01	-10.5039	10.894	0.47012	0.0:0.0:0.0:1.0	.	342;323	E7EUY1;P38484	.;INGR2_HUMAN	T	323;342;244	ENSP00000290219:I323T;ENSP00000371425:I342T;ENSP00000385044:I244T	ENSP00000290219:I323T	I	+	2	0	IFNGR2	33731093	0.022000	0.18835	0.003000	0.11579	0.222000	0.24845	3.264000	0.51553	2.138000	0.66242	0.460000	0.39030	ATC		0.502	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1		
SRRD	402055	broad.mit.edu	37	22	26887547	26887547	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr22:26887547T>C	ENST00000215917.7	+	7	943	c.929T>C	c.(928-930)aTt>aCt	p.I310T	TFIP11_ENST00000407690.1_3'UTR	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	310					rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCCATAGATATTTGGGAGTTT	0.433																																						uc010gve.3																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(928-930)aTt>aCt		Homo sapiens SRR1 domain containing (SRRD), mRNA.							89.0	84.0	86.0					22																	26887547		1852	4106	5958	SO:0001583	missense	402055				rhythmic process			g.chr22:26887547T>C	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"""hepatocellular carcinoma complicating hemochromatosis"""	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.929T>C	22.37:g.26887547T>C	ENSP00000215917:p.Ile310Thr					SRRD_uc003acp.4_Missense_Mutation_p.I303T	p.I310T	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN			6	936	+			310					Q6NXP8	Missense_Mutation	SNP	ENST00000215917.7	37	c.929T>C	CCDS42995.1	.	.	.	.	.	.	.	.	.	.	T	1.136	-0.650909	0.03506	.	.	ENSG00000100104	ENST00000215917	T	0.45276	0.9	5.37	-2.84	0.05751	.	1.010810	0.07924	N	0.976386	T	0.10508	0.0257	N	0.00170	-1.935	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.35500	-0.9786	10	0.21014	T	0.42	0.1243	11.5392	0.50657	0.0:0.3403:0.0:0.6597	.	310;303	Q9UH36;B4DF37	SRR1L_HUMAN;.	T	310	ENSP00000215917:I310T	ENSP00000215917:I310T	I	+	2	0	SRRD	25217547	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.156000	0.16382	-0.486000	0.06744	-1.007000	0.02485	ATT		0.433	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694	
IDUA	3425	broad.mit.edu	37	4	995272	995272	+	Silent	SNP	G	G	A			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr4:995272G>A	ENST00000247933.4	+	5	598	c.510G>A	c.(508-510)gcG>gcA	p.A170A	IDUA_ENST00000514224.1_Silent_p.A38A|IDUA_ENST00000453894.1_Silent_p.A123A	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	170					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGGACTGGCGCATGTTTCCA	0.582																																						uc003gby.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(508-510)gcG>gcA		Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	Laronidase(DB00090)						210.0	152.0	171.0					4																	995272		2203	4300	6503	SO:0001819	synonymous_variant	3425				disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	g.chr4:995272G>A	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.510G>A	4.37:g.995272G>A						IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Silent_p.A123A	p.A170A	NM_000203	NP_000194	P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	598	+			170					B3KWK6	Silent	SNP	ENST00000247933.4	37	c.510G>A	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	G	8.355	0.831887	0.16820	.	.	ENSG00000127415	ENST00000504568	.	.	.	4.58	-9.16	0.00694	.	.	.	.	.	T	0.15739	0.0379	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17228	-1.0376	4	.	.	.	-9.7244	3.0353	0.06119	0.361:0.3489:0.1969:0.0932	.	.	.	.	H	157	.	.	R	+	2	0	IDUA	985272	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-1.534000	0.02212	-1.802000	0.01244	-0.314000	0.08810	CGC		0.582	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203	
TMEM184C	55751	broad.mit.edu	37	4	148545074	148545074	+	Silent	SNP	A	A	G			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr4:148545074A>G	ENST00000296582.3	+	2	787	c.213A>G	c.(211-213)ttA>ttG	p.L71L	TMEM184C_ENST00000508208.1_Silent_p.L71L	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	71						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TGCAACACTTAGTGCATTATA	0.338																																						uc003ila.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(211-213)ttA>ttG		Homo sapiens transmembrane protein 184C (TMEM184C), mRNA.							132.0	130.0	130.0					4																	148545074		2203	4300	6503	SO:0001819	synonymous_variant	55751					integral to membrane		g.chr4:148545074A>G	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.213A>G	4.37:g.148545074A>G							p.L71L	NM_018241	NP_060711	Q9NVA4	T184C_HUMAN			1	782	+			71					D3DP04|Q86X84|Q969I7|Q9NXM2	Silent	SNP	ENST00000296582.3	37	c.213A>G	CCDS3770.1																																																																																				0.338	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241	
MCC	4163	broad.mit.edu	37	5	112824054	112824054	+	Missense_Mutation	SNP	C	C	T	rs199741976		TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr5:112824054C>T	ENST00000408903.3	-	1	473	c.58G>A	c.(58-60)Ggc>Agc	p.G20S		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.G20S(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ccgctgccgccgccgccgccg	0.756																																						uc003kql.4																			1	Substitution - Missense(1)	p.G20S(1)	central_nervous_system(1)	endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(58-60)Ggc>Agc		Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.							5.0	7.0	7.0					5																	112824054		1172	2822	3994	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824054C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.58G>A	5.37:g.112824054C>T	ENSP00000386227:p.Gly20Ser						p.G20S	NM_001085377	NP_001078846	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	0	474	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	548					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	c.58G>A	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	6.041	0.375835	0.11409	.	.	ENSG00000171444	ENST00000408903	T	0.34472	1.36	2.05	2.05	0.26809	.	.	.	.	.	T	0.46405	0.1391	.	.	.	0.25816	N	0.984338	D	0.89917	1.0	D	0.71184	0.972	T	0.22626	-1.0211	8	0.32370	T	0.25	.	4.5587	0.12149	0.0:0.7053:0.0:0.2947	.	20	P23508-2	.	S	20	ENSP00000386227:G20S	ENSP00000386227:G20S	G	-	1	0	MCC	112851953	0.002000	0.14202	0.063000	0.19743	0.016000	0.09150	1.079000	0.30766	1.100000	0.41517	0.491000	0.48974	GGC		0.756	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377	
PCDHB7	56129	broad.mit.edu	37	5	140554787	140554787	+	Missense_Mutation	SNP	T	T	G			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr5:140554787T>G	ENST00000231137.3	+	1	2545	c.2371T>G	c.(2371-2373)Ttg>Gtg	p.L791V	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	791					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGAATAATTTGGGTTTCTG	0.423																																						uc003lit.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2371-2373)Ttg>Gtg		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							44.0	65.0	58.0					5																	140554787		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554787T>G	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2371T>G	5.37:g.140554787T>G	ENSP00000231137:p.Leu791Val					PCDHB8_uc011dai.2_5'Flank	p.L791V	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2545	+			791					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2371T>G	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	T	9.615	1.132239	0.21041	.	.	ENSG00000113212	ENST00000231137	T	0.15139	2.45	4.27	1.71	0.24356	.	.	.	.	.	T	0.14056	0.0340	L	0.50333	1.59	0.09310	N	1	B	0.29481	0.245	B	0.23852	0.049	T	0.21621	-1.0240	9	0.49607	T	0.09	.	5.4212	0.16402	0.1649:0.0:0.3657:0.4694	.	791	Q9Y5E2	PCDB7_HUMAN	V	791	ENSP00000231137:L791V	ENSP00000231137:L791V	L	+	1	2	PCDHB7	140534971	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.097000	0.15168	0.122000	0.18314	-0.461000	0.05368	TTG		0.423	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
F13A1	2162	broad.mit.edu	37	6	6145963	6145963	+	Silent	SNP	G	G	A			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr6:6145963G>A	ENST00000264870.3	-	15	2353	c.2088C>T	c.(2086-2088)tgC>tgT	p.C696C		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	696					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCCAGGGCCGGCACACTTCTT	0.547																																						uc003mwv.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(2086-2088)tgC>tgT		Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	L-Glutamine(DB00130)						101.0	89.0	93.0					6																	6145963		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6145963G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.2088C>T	6.37:g.6145963G>A						F13A1_uc011dib.2_Missense_Mutation_p.A590V	p.C696C	NM_000129	NP_000120	P00488	F13A_HUMAN			14	2211	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	696					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.2088C>T	CCDS4496.1																																																																																				0.547	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129	
IQCE	23288	broad.mit.edu	37	7	2644610	2644610	+	Silent	SNP	A	A	G			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:2644610A>G	ENST00000402050.2	+	19	1912	c.1728A>G	c.(1726-1728)ccA>ccG	p.P576P	IQCE_ENST00000404984.1_Silent_p.P525P|IQCE_ENST00000325979.7_Silent_p.P511P|IQCE_ENST00000438376.2_Silent_p.P560P	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	576						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CCAGCGTGCCAGGCCTCCCAG	0.612																																						uc003sml.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1726-1728)ccA>ccG		Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.							37.0	44.0	41.0					7																	2644610		2165	4254	6419	SO:0001819	synonymous_variant	23288							g.chr7:2644610A>G	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1728A>G	7.37:g.2644610A>G						IQCE_uc011jvy.1_Silent_p.P560P|IQCE_uc011jvz.1_Silent_p.P511P|IQCE_uc003smo.4_Silent_p.P576P|IQCE_uc003smk.4_Silent_p.P560P|IQCE_uc003smn.4_Silent_p.P511P	p.P576P	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	18	1912	+		Ovarian(82;0.0112)	576					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	37	c.1728A>G	CCDS43542.1																																																																																				0.612	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558	
ZNF727	442319	broad.mit.edu	37	7	63538420	63538420	+	Silent	SNP	C	C	T			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:63538420C>T	ENST00000550760.3	+	4	1172	c.993C>T	c.(991-993)aaC>aaT	p.N331N	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						GTCAACATAACAGAATTCATA	0.378																																						uc011kdm.2																			0				endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						c.(991-993)aaC>aaT		Homo sapiens zinc finger protein 727 (ZNF727), mRNA.							31.0	31.0	31.0					7																	63538420		692	1591	2283	SO:0001819	synonymous_variant	442319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63538420C>T			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.993C>T	7.37:g.63538420C>T							p.N331N	NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN			3	1172	+			331						Silent	SNP	ENST00000550760.3	37	c.993C>T	CCDS55113.1																																																																																				0.378	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001159522	
CACNA2D1	781	broad.mit.edu	37	7	81591237	81591238	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:81591237_81591238CC>AT	ENST00000356253.5	-	36	3229_3230	c.2974_2975GG>AT	c.(2974-2976)GGt>ATt	p.G992I	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G980I|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.G192I			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	992					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTCTAATACACCACTGAATGAT	0.361																																						uc003uhr.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2938-2940)ggt>ATt		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)																																			SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81591237_81591238CC>AT	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2974_2975delinsAT	7.37:g.81591237_81591238delinsAT	ENSP00000348589:p.Gly992Ile					CACNA2D1_uc011kgy.1_Missense_Mutation_p.G192I	p.G980I	NM_000722	NP_000713	P54289	CA2D1_HUMAN			35	3194_3195	-			992					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	DNP	ENST00000356253.5	37	c.2938_2939GG>AT																																																																																					0.361	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
NAMPT	10135	broad.mit.edu	37	7	105909693	105909693	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:105909693T>C	ENST00000222553.3	-	5	820	c.513A>G	c.(511-513)atA>atG	p.I171M	NAMPT_ENST00000354289.4_Missense_Mutation_p.I171M|NAMPT_ENST00000484527.1_5'UTR	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	171					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ATTTGGCCAATATTTTCTTCT	0.363																																						uc003vdq.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(511-513)atA>atG		Homo sapiens nicotinamide phosphoribosyltransferase (NAMPT), mRNA.							52.0	49.0	50.0					7																	105909693		2203	4297	6500	SO:0001583	missense	10135				cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr7:105909693T>C	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.513A>G	7.37:g.105909693T>C	ENSP00000222553:p.Ile171Met					NAMPT_uc003vdr.1_Missense_Mutation_p.I171M|NAMPT_uc011klu.1_Missense_Mutation_p.I84M	p.I171M	NM_005746	NP_005737	P43490	NAMPT_HUMAN			4	821	-			171					A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	c.513A>G	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.478025	0.63849	.	.	ENSG00000105835	ENST00000222553;ENST00000354289	.	.	.	4.97	3.65	0.41850	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.095499	0.64402	D	0.000001	T	0.64983	0.2648	M	0.80616	2.505	0.42748	D	0.993765	D;P;P	0.59357	0.985;0.836;0.874	P;P;B	0.54889	0.763;0.488;0.435	T	0.67389	-0.5683	9	0.48119	T	0.1	-17.6167	4.6145	0.12418	0.2636:0.0:0.2597:0.4767	.	84;152;171	B7Z8W6;Q5SYT8;P43490	.;.;NAMPT_HUMAN	M	171	.	ENSP00000222553:I171M	I	-	3	3	NAMPT	105696929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.765000	0.38481	1.972000	0.57404	0.528000	0.53228	ATA		0.363	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790	
TMEM229A	730130	broad.mit.edu	37	7	123672457	123672462	+	In_Frame_Del	DEL	GCTGCT	GCTGCT	-	rs71163719|rs374529977|rs566327350|rs72310362	byFrequency	TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:123672457_123672462delGCTGCT	ENST00000455783.1	-	1	1061_1066	c.596_601delAGCAGC	c.(595-603)cagcagcgg>cgg	p.QQ199del	RP5-921G16.1_ENST00000484322.1_RNA	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN	transmembrane protein 229A	199						host cell nucleus (GO:0042025)|integral component of membrane (GO:0016021)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)	6						GCGCCCCTCCgctgctgctgctgctg	0.757														714	0.142572	0.3026	0.0908	5008	,	,		13703	0.002		0.1282	False		,,,				2504	0.1227					uc011kob.2																			0				endometrium(3)|kidney(3)	6						c.(595-603)cagcagcgg>cgg		Homo sapiens transmembrane protein 229A (TMEM229A), mRNA.				16,422,143,1041		8,0,0,0,177,9,59,56,22,480						-4.0	0.0			3	5,438,299,2868		1,0,0,3,176,3,83,104,88,1347	no	codingComplex	TMEM229A	NM_001136002.1		9,0,0,3,353,12,142,160,110,1827	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		20.554,35.82,25.2867				21,860,442,3909				SO:0001651	inframe_deletion	730130					host cell nucleus|integral to membrane	sequence-specific DNA binding transcription factor activity	g.chr7:123672457_123672462delGCTGCT	BC157828	CCDS47694.1	7q31.32	2009-09-22			ENSG00000234224	ENSG00000234224			37279	protein-coding gene	gene with protein product							Standard	NM_001136002		Approved		uc011kob.2	B2RXF0	OTTHUMG00000154762	ENST00000455783.1:c.596_601delAGCAGC	7.37:g.123672463_123672468delGCTGCT	ENSP00000395244:p.Gln199_Gln200del					EU233817_uc011koc.2_Intron	p.QQ199del	NM_001136002	NP_001129474	B2RXF0	T229A_HUMAN			0	1062_1067	-			199					A4D0X6	In_Frame_Del	DEL	ENST00000455783.1	37	c.596_601delAGCAGC	CCDS47694.1																																																																																				0.757	TMEM229A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336960.3	NM_001136002	
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
PRSS3P2	154754	broad.mit.edu	37	7	142481845	142481845	+	RNA	SNP	A	A	G			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:142481845A>G	ENST00000603901.1	+	0	524					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										AAAGCCTCCTACCCTTTAAAG	0.512																																						uc011ksq.2																			0											c.(523-525)tAc>tGc		Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																																						154754							g.chr7:142481845A>G			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481845A>G						TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron	p.Y175C							3	607	+									Missense_Mutation	SNP	ENST00000603901.1	37	c.524A>G																																																																																					0.512	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296	
SLCO5A1	81796	broad.mit.edu	37	8	70585394	70585394	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr8:70585394T>C	ENST00000260126.4	-	10	2963	c.2257A>G	c.(2257-2259)Att>Gtt	p.I753V	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.I698V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	753						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCCAGAAAAATAAAAATAAAC	0.488																																						uc003xyl.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2257-2259)Att>Gtt		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.							74.0	77.0	76.0					8																	70585394		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70585394T>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2257A>G	8.37:g.70585394T>C	ENSP00000260126:p.Ile753Val					SLCO5A1_uc010lzb.3_Missense_Mutation_p.I698V|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	p.I753V	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		9	2964	-	Breast(64;0.0654)		753					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.2257A>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.320658	0.60634	.	.	ENSG00000137571	ENST00000260126;ENST00000530307	T;T	0.80480	-1.38;-1.38	5.93	5.93	0.95920	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77274	0.4106	L	0.54323	1.7	0.45150	D	0.998168	B;B	0.28605	0.15;0.217	B;B	0.28991	0.097;0.044	T	0.72934	-0.4141	10	0.21540	T	0.41	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	698;753	E9PKK5;Q9H2Y9	.;SO5A1_HUMAN	V	753;698	ENSP00000260126:I753V;ENSP00000431611:I698V	ENSP00000260126:I753V	I	-	1	0	SLCO5A1	70747948	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.077000	0.71275	2.281000	0.76405	0.533000	0.62120	ATT		0.488	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
QSOX2	169714	broad.mit.edu	37	9	139108556	139108556	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr9:139108556G>A	ENST00000358701.5	-	9	1136	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	367					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		ACTGGCGGCCGTCCAGGGAAC	0.642																																						uc010nbi.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1099-1101)Cgg>Tgg		Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.							59.0	56.0	57.0					9																	139108556		2203	4300	6503	SO:0001583	missense	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139108556G>A	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1099C>T	9.37:g.139108556G>A	ENSP00000351536:p.Arg367Trp						p.R367W	NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	8	1137	-		Myeloproliferative disorder(178;0.0511)	367					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	c.1099C>T	CCDS35178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.11|12.11	1.838421|1.838421	0.32513|0.32513	.|.	.|.	ENSG00000165661|ENSG00000165661	ENST00000358701;ENST00000389471|ENST00000455222	T|.	0.18016|.	2.24|.	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	0.131897|.	0.49916|.	D|.	0.000126|.	T|T	0.67906|0.67906	0.2943|0.2943	M|M	0.84846|0.84846	2.72|2.72	0.31410|0.31410	N|N	0.675637|0.675637	D|.	0.89917|.	1.0|.	D|.	0.72982|.	0.979|.	T|T	0.73369|0.73369	-0.4004|-0.4004	10|5	0.87932|.	D|.	0|.	-25.4167|-25.4167	11.1242|11.1242	0.48308|0.48308	0.0:0.0:0.8153:0.1847|0.0:0.0:0.8153:0.1847	.|.	367|.	Q6ZRP7|.	QSOX2_HUMAN|.	W|M	367;166|134	ENSP00000351536:R367W|.	ENSP00000351536:R367W|.	R|T	-|-	1|2	2|0	QSOX2|QSOX2	138248377|138248377	1.000000|1.000000	0.71417|0.71417	0.296000|0.296000	0.24974|0.24974	0.025000|0.025000	0.11179|0.11179	3.603000|3.603000	0.54074|0.54074	1.951000|1.951000	0.56629|0.56629	0.406000|0.406000	0.27484|0.27484	CGG|ACG		0.642	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701	
NHS	4810	broad.mit.edu	37	X	17745854	17745854	+	Missense_Mutation	SNP	A	A	G			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chrX:17745854A>G	ENST00000380060.3	+	6	3903	c.3565A>G	c.(3565-3567)Atg>Gtg	p.M1189V	NHS_ENST00000398097.3_Missense_Mutation_p.M1033V	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1210					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGCAGTTGAGATGGGACCAGA	0.398																																						uc011mix.2																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(3628-3630)Atg>Gtg		Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.							95.0	92.0	93.0					X																	17745854		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17745854A>G		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3565A>G	X.37:g.17745854A>G	ENSP00000369400:p.Met1189Val					NHS_uc004cxx.3_Missense_Mutation_p.M1189V|NHS_uc004cxy.3_Missense_Mutation_p.M1033V|NHS_uc004cxz.3_Missense_Mutation_p.M1012V|NHS_uc004cya.3_Missense_Mutation_p.M912V	p.M1210V	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN			6	3966	+	Hepatocellular(33;0.183)		1189					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.3628A>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	0.072	-1.201287	0.01581	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.41065	1.01;1.02	5.79	1.81	0.25067	.	0.834973	0.11451	N	0.562788	T	0.27697	0.0681	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.27297	-1.0078	10	0.16420	T	0.52	-0.4352	5.4581	0.16602	0.6684:0.0:0.211:0.1206	.	1210;1031;1033;1189	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	V	1189;1033;1031	ENSP00000369400:M1189V;ENSP00000381170:M1033V	ENSP00000369397:M1031V	M	+	1	0	NHS	17655775	0.131000	0.22433	0.337000	0.25536	0.032000	0.12392	0.561000	0.23515	0.286000	0.22352	-0.443000	0.05667	ATG		0.398	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270	
PGAM4	441531	broad.mit.edu	37	X	77224407	77224407	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chrX:77224407T>C	ENST00000458128.1	-	1	728	c.729A>G	c.(727-729)atA>atG	p.I243M	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	243					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						CCACAGCTTCTATGGCTTTGC	0.567																																						uc004ecy.1																			0				endometrium(2)|lung(4)	6						c.(727-729)atA>atG		Homo sapiens phosphoglycerate mutase family member 4 (PGAM4), mRNA.							55.0	51.0	52.0					X																	77224407		2203	4296	6499	SO:0001583	missense	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224407T>C	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.729A>G	X.37:g.77224407T>C	ENSP00000412189:p.Ile243Met					ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.4_Intron	p.I243M	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN			0	729	-			243					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.729A>G	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.290698	0.01387	.	.	ENSG00000226784	ENST00000458128	T	0.80653	-1.4	0.119	0.119	0.14685	.	0.047783	0.85682	N	0.000000	T	0.48169	0.1485	N	0.01751	-0.74	0.19775	N	0.999953	B	0.02656	0.0	B	0.01281	0.0	T	0.35943	-0.9768	9	.	.	.	-14.4349	4.5722	0.12216	0.0:0.6892:0.0:0.3108	.	243	Q8N0Y7	PGAM4_HUMAN	M	243	ENSP00000412189:I243M	.	I	-	3	3	PGAM4	77111063	1.000000	0.71417	0.196000	0.23383	0.200000	0.23975	3.665000	0.54532	-1.289000	0.02375	-1.288000	0.01363	ATA		0.567	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891	
