#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
KNDC1	85442	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	135038195	135038195	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr10:135038195C>T	ENST00000304613.3	+	30	5072	c.5051C>T	c.(5050-5052)gCg>gTg	p.A1684V	KNDC1_ENST00000368572.2_Missense_Mutation_p.A1686V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1684	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGGTGCACGCGTTCCAGGAG	0.597																																																0													89.0	71.0	77.0					10																	135038195		2203	4300	6503	SO:0001583	missense	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.5051C>T	10.37:g.135038195C>T	ENSP00000304437:p.Ala1684Val		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.823358	0.90873	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.28454	1.61;1.61	4.42	4.42	0.53409	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.26919	0.0659	L	0.43152	1.355	0.80722	D	1	P	0.48407	0.91	B	0.41571	0.36	T	0.03673	-1.1014	10	0.21014	T	0.42	-29.516	14.8796	0.70522	0.0:1.0:0.0:0.0	.	1684	Q76NI1	VKIND_HUMAN	V	1684;1686	ENSP00000304437:A1684V;ENSP00000357561:A1686V	ENSP00000304437:A1684V	A	+	2	0	KNDC1	134888185	1.000000	0.71417	0.906000	0.35671	0.837000	0.47467	5.634000	0.67833	2.171000	0.68590	0.655000	0.94253	GCG		0.597	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		25	59	25	59
OR52B6	340980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	5602864	5602864	+	Missense_Mutation	SNP	G	G	A	rs199604989		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:5602864G>A	ENST00000345043.2	+	1	758	c.758G>A	c.(757-759)cGc>cAc	p.R253H	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGATGCCCGCTCCAAGGCC	0.507																																																0								G	HIS/ARG	0,4028		0,0,2014	221.0	236.0	232.0		758	3.0	0.4	11		232	2,8344		0,2,4171	no	missense	OR52B6	NM_001005162.2	29	0,2,6185	AA,AG,GG		0.024,0.0,0.0162	possibly-damaging	253/336	5602864	2,12372	2014	4173	6187	SO:0001583	missense	340980			AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.758G>A	11.37:g.5602864G>A	ENSP00000341581:p.Arg253His		Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620939	0.28889	0.0	2.4E-4	ENSG00000187747	ENST00000345043	T	0.00333	8.07	4.99	2.97	0.34412	GPCR, rhodopsin-like superfamily (1);	0.218860	0.22458	U	0.059787	T	0.00468	0.0015	M	0.92459	3.31	0.09310	N	1	P	0.43024	0.798	B	0.41135	0.348	T	0.26677	-1.0096	10	0.87932	D	0	.	8.4541	0.32888	0.2054:0.0:0.7946:0.0	.	253	Q8NGF0	O52B6_HUMAN	H	253	ENSP00000341581:R253H	ENSP00000341581:R253H	R	+	2	0	OR52B6	5559440	0.000000	0.05858	0.418000	0.26571	0.558000	0.35554	0.148000	0.16224	1.333000	0.45449	0.650000	0.86243	CGC		0.507	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		43	340	43	340
MS4A6E	245802	hgsc.bcm.edu;broad.mit.edu	37	11	60105367	60105367	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:60105367G>T	ENST00000300182.4	+	2	366	c.301G>T	c.(301-303)Gat>Tat	p.D101Y		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	101						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TCTTTCTTATGATTATCATTC	0.403																																																0													115.0	112.0	113.0					11																	60105367		2203	4300	6503	SO:0001583	missense	245802			AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.301G>T	11.37:g.60105367G>T	ENSP00000300182:p.Asp101Tyr		Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	ENST00000300182.4	37	CCDS7984.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-4.499203	0.00000	.	.	ENSG00000166926	ENST00000300182	T	0.02345	4.33	1.32	-2.64	0.06114	.	0.733773	0.12529	N	0.460985	T	0.01189	0.0039	N	0.04090	-0.28	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.41034	-0.9531	10	0.02654	T	1	.	7.6549	0.28369	0.0:0.0:0.6554:0.3446	.	101	Q96DS6	M4A6E_HUMAN	Y	101	ENSP00000300182:D101Y	ENSP00000300182:D101Y	D	+	1	0	MS4A6E	59861943	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.131000	0.01311	-3.507000	0.00150	-3.342000	0.00043	GAT		0.403	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1			14	199	14	199
AHNAK	79026	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	62299210	62299210	+	Silent	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:62299210C>T	ENST00000378024.4	-	5	2953	c.2679G>A	c.(2677-2679)gaG>gaA	p.E893E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	893					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTGGGCCCTCTGCTTTGA	0.517																																																0													208.0	218.0	215.0					11																	62299210		2202	4299	6501	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2679G>A	11.37:g.62299210C>T			A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		280	348	280	348
CWF19L2	143884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	107224323	107224323	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:107224323T>C	ENST00000282251.5	-	13	2039	c.2012A>G	c.(2011-2013)cAa>cGa	p.Q671R	CWF19L2_ENST00000433523.1_Missense_Mutation_p.Q671R	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	671							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTTTTCCATTTGTGCAGCAAG	0.393																																																0													122.0	115.0	117.0					11																	107224323		2201	4298	6499	SO:0001583	missense	143884			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2012A>G	11.37:g.107224323T>C	ENSP00000282251:p.Gln671Arg		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	T	1.343	-0.593547	0.03771	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.16897	2.97;2.31	5.85	2.23	0.28157	Histidine triad motif (1);Histidine triad-like motif (1);Cwf19-like, C-terminal domain-1 (1);	0.492108	0.23803	N	0.044412	T	0.07234	0.0183	N	0.16307	0.4	0.09310	N	0.999996	B	0.09022	0.002	B	0.11329	0.006	T	0.34329	-0.9833	10	0.15499	T	0.54	-4.7477	1.2444	0.01970	0.1364:0.2318:0.1419:0.4899	.	671	Q2TBE0	C19L2_HUMAN	R	671	ENSP00000282251:Q671R;ENSP00000387533:Q671R	ENSP00000282251:Q671R	Q	-	2	0	CWF19L2	106729533	0.999000	0.42202	0.984000	0.44739	0.767000	0.43475	1.322000	0.33689	0.124000	0.18369	0.533000	0.62120	CAA		0.393	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		50	79	50	79
KSR2	283455	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	118016978	118016978	+	Missense_Mutation	SNP	G	G	A	rs552480492		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr12:118016978G>A	ENST00000339824.5	-	7	1998	c.1271C>T	c.(1270-1272)aCg>aTg	p.T424M	KSR2_ENST00000425217.1_Missense_Mutation_p.T395M|KSR2_ENST00000302438.5_Missense_Mutation_p.T121M|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	424					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACTGTGCACGTCTGAGACAT	0.468																																																0													81.0	77.0	78.0					12																	118016978		1947	4149	6096	SO:0001583	missense	283455			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1271C>T	12.37:g.118016978G>A	ENSP00000339952:p.Thr424Met		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37		.	.	.	.	.	.	.	.	.	.	G	20.3	3.965431	0.74131	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.55413	0.52;0.52;0.52	4.58	4.58	0.56647	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	L	0.41824	1.3	0.80722	D	1	P	0.48764	0.915	P	0.45276	0.475	T	0.55673	-0.8104	10	0.54805	T	0.06	.	16.5124	0.84289	0.0:0.0:1.0:0.0	.	424	Q6VAB6	KSR2_HUMAN	M	395;424;121;96	ENSP00000389715:T395M;ENSP00000339952:T424M;ENSP00000305466:T121M	ENSP00000305466:T121M	T	-	2	0	KSR2	116501361	1.000000	0.71417	0.957000	0.39632	0.947000	0.59692	8.849000	0.92178	2.259000	0.74868	0.385000	0.25706	ACG		0.468	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		7	52	7	52
LMO7	4008	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	76382215	76382215	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr13:76382215G>A	ENST00000321797.8	+	8	1818	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	LMO7_ENST00000357063.3_Missense_Mutation_p.G651E|LMO7_ENST00000377534.3_Missense_Mutation_p.G651E|LMO7_ENST00000341547.4_Intron|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_Missense_Mutation_p.G366E|LMO7_ENST00000526202.1_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	651					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGAAACTGGGAACTACCGTG	0.498																																																0													66.0	62.0	63.0					13																	76382215		1568	3582	5150	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1097G>A	13.37:g.76382215G>A	ENSP00000317802:p.Gly366Glu		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37		.	.	.	.	.	.	.	.	.	.	G	15.94	2.981155	0.53827	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.67	5.67	0.87782	.	0.430681	0.26594	N	0.023508	T	0.65196	0.2668	M	0.63428	1.95	0.40051	D	0.975777	D;D	0.89917	1.0;1.0	D;D	0.72075	0.968;0.976	T	0.62492	-0.6843	10	0.39692	T	0.17	-25.434	15.6065	0.76676	0.0:0.1369:0.8631:0.0	.	651;366	Q8WWI1;E9PLH4	LMO7_HUMAN;.	E	651;651;366;366	ENSP00000349571:G651E;ENSP00000366757:G651E;ENSP00000317802:G366E;ENSP00000433352:G366E	ENSP00000317802:G366E	G	+	2	0	LMO7	75280216	1.000000	0.71417	0.985000	0.45067	0.404000	0.30871	5.897000	0.69831	2.836000	0.97738	0.655000	0.94253	GGA		0.498	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		26	59	26	59
CYP1A1	1543	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	75012968	75012968	+	Silent	SNP	G	G	C			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr15:75012968G>C	ENST00000379727.3	-	7	1599	c.1401C>G	c.(1399-1401)gtC>gtG	p.V467V	CYP1A1_ENST00000395048.2_Silent_p.V467V|CYP1A1_ENST00000567032.1_Silent_p.V467V|CYP1A1_ENST00000395049.4_Silent_p.V438V			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	467					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	GGAAGAGAAAGACCTCCCAGC	0.542									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																																							0													118.0	106.0	110.0					15																	75012968		2197	4296	6493	SO:0001819	synonymous_variant	1543	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1401C>G	15.37:g.75012968G>C			A4F3V9|A4F3W0|Q53G18	Silent	SNP	ENST00000379727.3	37	CCDS10268.1																																																																																				0.542	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		35	141	35	141
IDH2	3418	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	A	rs121913503		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr15:90631838C>A	ENST00000330062.3	-	4	628	c.515G>T	c.(514-516)aGg>aTg	p.R172M	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120M|IDH2_ENST00000539790.1_Missense_Mutation_p.R42M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																		Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	138	Substitution - Missense(138)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)											85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>T	15.37:g.90631838C>A	ENSP00000331897:p.Arg172Met		B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325761	0.41197	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.87029	-2.2;-2.2;-2.2	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95720	0.8608	H	0.98487	4.245	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.95498	0.8575	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	M	172;42;120	ENSP00000331897:R172M;ENSP00000438457:R42M;ENSP00000446147:R120M	ENSP00000331897:R172M	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			65	88	65	88
CDH5	1003	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	66436644	66436644	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr16:66436644G>A	ENST00000341529.3	+	12	2075	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	CDH5_ENST00000539168.1_Missense_Mutation_p.V82I	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	643					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CGAGCAGCTGGTCACCTACGA	0.711																																																0													24.0	25.0	24.0					16																	66436644		2193	4293	6486	SO:0001583	missense	1003			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1927G>A	16.37:g.66436644G>A	ENSP00000344115:p.Val643Ile		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075813	0.76415	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262;ENST00000539168	T;T	0.75938	-0.98;-0.98	5.32	5.32	0.75619	Cadherin, cytoplasmic domain (1);	.	.	.	.	T	0.80433	0.4622	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.75156	-0.3417	9	0.17369	T	0.5	.	17.9878	0.89160	0.0:0.0:1.0:0.0	.	643	P33151	CADH5_HUMAN	I	643;528;384;82	ENSP00000344115:V643I;ENSP00000461880:V82I	ENSP00000344115:V643I	V	+	1	0	CDH5	64994145	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.827000	0.86722	2.481000	0.83766	0.462000	0.41574	GTC		0.711	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		5	17	5	17
KRT33B	3884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	39521763	39521763	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr17:39521763C>T	ENST00000251646.3	-	4	680	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	211	Linker 12.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCACCTCCACGTTGAGGCGG	0.522																																																0													62.0	61.0	61.0					17																	39521763		2191	4300	6491	SO:0001583	missense	3884			X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.631G>A	17.37:g.39521763C>T	ENSP00000251646:p.Val211Met		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	c	25.5	4.641356	0.87859	.	.	ENSG00000131738	ENST00000251646	D	0.92299	-3.01	4.51	4.51	0.55191	Filament (1);	0.119655	0.38436	N	0.001685	D	0.95921	0.8672	M	0.84082	2.675	0.46203	D	0.998927	D	0.76494	0.999	D	0.67231	0.95	D	0.96541	0.9400	10	0.87932	D	0	.	16.7327	0.85439	0.0:1.0:0.0:0.0	.	211	Q14525	KT33B_HUMAN	M	211	ENSP00000251646:V211M	ENSP00000251646:V211M	V	-	1	0	KRT33B	36775289	0.994000	0.37717	1.000000	0.80357	0.888000	0.51559	3.159000	0.50731	2.474000	0.83562	0.650000	0.86243	GTG		0.522	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		27	40	27	40
ELL	8178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	18557617	18557617	+	Silent	SNP	G	G	A	rs73923115	byFrequency	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:18557617G>A	ENST00000262809.4	-	9	1544	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	ELL_ENST00000596124.3_Silent_p.N358N	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	491					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TGCAGGTTCCGTTTAAACCTA	0.572			T	MLL	AL								g|||	12	0.00239617	0.0076	0.0	5008	,	,		22951	0.001		0.0	False		,,,				2504	0.001						Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0										21,4385	28.1+/-56.4	0,21,2182	103.0	86.0	92.0		1473	-4.3	0.0	19	dbSNP_130	92	0,8600		0,0,4300	yes	coding-synonymous	ELL	NM_006532.3		0,21,6482	AA,AG,GG		0.0,0.4766,0.1615		491/622	18557617	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	8178			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1473C>T	19.37:g.18557617G>A				Silent	SNP	ENST00000262809.4	37	CCDS12380.1																																																																																				0.572	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		13	55	13	55
PRODH2	58510	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	36302867	36302867	+	Silent	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:36302867C>T	ENST00000301175.3	-	5	839	c.822G>A	c.(820-822)ggG>ggA	p.G274G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	274					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTTACCTGCCCAGAGTCCA	0.597																																																0													50.0	45.0	46.0					19																	36302867		2203	4300	6503	SO:0001819	synonymous_variant	58510			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.822G>A	19.37:g.36302867C>T				Silent	SNP	ENST00000301175.3	37	CCDS12478.1																																																																																				0.597	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		24	14	24	14
KLK4	9622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	51411835	51411835	+	Splice_Site	SNP	C	C	T	rs267605602		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:51411835C>T	ENST00000324041.1	-	3	474	c.475G>A	c.(475-477)Ggc>Agc	p.G159S	KLK4_ENST00000431178.2_Splice_Site_p.G110R|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	159	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> D (in dbSNP:rs34626614).		amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGAGCTCACCGTTCGCCAGC	0.637																																																0													92.0	76.0	81.0					19																	51411835		2203	4300	6503	SO:0001630	splice_region_variant	9622			AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.475+1G>A	19.37:g.51411835C>T			Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Splice_Site	SNP	ENST00000324041.1	37	CCDS12809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.33|10.33	1.319411|1.319411	0.23994|0.23994	.|.	.|.	ENSG00000167749|ENSG00000167749	ENST00000431178|ENST00000324041	D|D	0.93763|0.88354	-3.28|-2.37	3.43|3.43	1.25|1.25	0.21368|0.21368	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000|0.000000	0.39083|0.39083	N|N	0.001469|0.001469	T|T	0.75627|0.75627	0.3875|0.3875	L|L	0.28504|0.28504	0.86|0.86	0.18873|0.18873	N|N	0.999988|0.999988	.|P;P	.|0.48589	.|0.912;0.875	.|B;B	.|0.36567	.|0.228;0.107	T|T	0.67929|0.67929	-0.5543|-0.5543	7|9	.|.	.|.	.|.	.|.	4.7095|4.7095	0.12865|0.12865	0.0:0.6502:0.225:0.1248|0.0:0.6502:0.225:0.1248	.|.	.|110;159	.|Q96JD7;Q9Y5K2	.|.;KLK4_HUMAN	R|S	110|159	ENSP00000399448:G110R|ENSP00000326159:G159S	.|.	G|G	-|-	1|1	0|0	KLK4|KLK4	56103647|56103647	0.062000|0.062000	0.20869|0.20869	0.202000|0.202000	0.23494|0.23494	0.005000|0.005000	0.04900|0.04900	0.795000|0.795000	0.26972|0.26972	0.439000|0.439000	0.26476|0.26476	-0.305000|-0.305000	0.09177|0.09177	GGG|GGC		0.637	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917	Missense_Mutation	8	85	8	85
HRNR	388697	hgsc.bcm.edu;broad.mit.edu	37	1	152193228	152193228	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr1:152193228A>G	ENST00000368801.2	-	3	952	c.877T>C	c.(877-879)Tct>Cct	p.S293P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	293					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCCAAAGACTGACGGGAA	0.607																																																0													199.0	190.0	193.0					1																	152193228		2203	4300	6503	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.877T>C	1.37:g.152193228A>G	ENSP00000357791:p.Ser293Pro		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	A	8.303	0.820413	0.16678	.	.	ENSG00000197915	ENST00000368801	T	0.01725	4.67	4.04	-1.73	0.08081	.	.	.	.	.	T	0.00328	0.0010	N	0.14661	0.345	0.09310	N	1	B	0.21821	0.061	B	0.15870	0.014	T	0.45483	-0.9258	9	0.32370	T	0.25	.	0.1328	0.00075	0.3514:0.154:0.1935:0.3011	.	293	Q86YZ3	HORN_HUMAN	P	293	ENSP00000357791:S293P	ENSP00000357791:S293P	S	-	1	0	HRNR	150459852	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.158000	0.16422	-0.131000	0.11578	-0.268000	0.10319	TCT		0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		15	317	15	317
SELE	6401	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	169698637	169698637	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr1:169698637G>A	ENST00000333360.7	-	6	1032	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SELE_ENST00000367780.4_Missense_Mutation_p.T236M|SELE_ENST00000367776.1_Missense_Mutation_p.T298M|SELE_ENST00000367777.1_Missense_Mutation_p.T298M|SELE_ENST00000367782.4_Missense_Mutation_p.T298M|SELE_ENST00000367779.4_Missense_Mutation_p.T298M|SELE_ENST00000367775.1_Missense_Mutation_p.T236M|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.T298M|SELE_ENST00000367774.1_Missense_Mutation_p.T298M	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	298	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	ACCTTTACACGTTGGCTTCTC	0.443																																																0													139.0	129.0	133.0					1																	169698637		2203	4300	6503	SO:0001583	missense	6401			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.893C>T	1.37:g.169698637G>A	ENSP00000331736:p.Thr298Met		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	5.449	0.267890	0.10349	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.71	-3.56	0.04626	Complement control module (2);Sushi/SCR/CCP (3);	0.343688	0.21421	N	0.074815	T	0.45296	0.1335	M	0.87456	2.885	0.09310	N	1	B	0.31413	0.322	B	0.32624	0.149	T	0.49952	-0.8884	10	0.46703	T	0.11	-1.6173	5.0622	0.14562	0.4003:0.0:0.3852:0.2145	.	298	P16581	LYAM2_HUMAN	M	298;298;236;298;298;298;236;298;298	ENSP00000356755:T298M;ENSP00000356756:T298M;ENSP00000356754:T236M;ENSP00000356753:T298M;ENSP00000331736:T298M;ENSP00000356751:T298M;ENSP00000356749:T236M;ENSP00000356750:T298M;ENSP00000356748:T298M	ENSP00000331736:T298M	T	-	2	0	SELE	167965261	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-2.589000	0.00900	-0.349000	0.08274	-1.801000	0.00618	ACG		0.443	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		87	103	87	103
IL1RL2	8808	hgsc.bcm.edu;broad.mit.edu	37	2	102805614	102805614	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:102805614C>A	ENST00000264257.2	+	3	263	c.137C>A	c.(136-138)cCc>cAc	p.P46H	IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.P46H	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	46	Ig-like C2-type 1.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						ACATTCCCTCCCATAACATCT	0.378																																																0													92.0	89.0	90.0					2																	102805614		2203	4300	6503	SO:0001583	missense	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.137C>A	2.37:g.102805614C>A	ENSP00000264257:p.Pro46His		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981624	0.74474	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.33654	4.14;1.4;4.14	5.86	0.259	0.15583	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.568239	0.14791	N	0.298218	T	0.43211	0.1237	M	0.64997	1.995	0.09310	N	1	P	0.52170	0.951	P	0.59115	0.852	T	0.22034	-1.0228	10	0.35671	T	0.21	.	3.0813	0.06262	0.3146:0.3982:0.0:0.2871	.	46	Q9HB29	ILRL2_HUMAN	H	46	ENSP00000264257:P46H;ENSP00000387611:P46H;ENSP00000442184:P46H	ENSP00000264257:P46H	P	+	2	0	IL1RL2	102172046	0.000000	0.05858	0.000000	0.03702	0.667000	0.39255	0.246000	0.18160	0.099000	0.17552	0.650000	0.86243	CCC		0.378	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		10	151	10	151
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	152521900	152521900	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:152521900T>A	ENST00000172853.10	-	42	5332	c.5185A>T	c.(5185-5187)Atg>Ttg	p.M1729L	NEB_ENST00000409198.1_Missense_Mutation_p.M1729L|NEB_ENST00000427231.2_Missense_Mutation_p.M1729L|NEB_ENST00000603639.1_Missense_Mutation_p.M1729L|NEB_ENST00000397345.3_Missense_Mutation_p.M1729L|NEB_ENST00000604864.1_Missense_Mutation_p.M1729L			P20929	NEBU_HUMAN	nebulin	1729					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTGTGTCCATGGCGTAAGTG	0.507																																																0													263.0	257.0	259.0					2																	152521900		2069	4201	6270	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5185A>T	2.37:g.152521900T>A	ENSP00000172853:p.Met1729Leu		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	14.72	2.618527	0.46736	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05382	3.45;3.47;3.47;3.46	6.16	6.16	0.99307	.	0.038739	0.85682	D	0.000000	T	0.08537	0.0212	L	0.59436	1.845	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.20874	-1.0262	10	0.12766	T	0.61	.	13.7782	0.63066	0.0:0.0:0.1273:0.8727	.	1729	P20929	NEBU_HUMAN	L	1729	ENSP00000386259:M1729L;ENSP00000380505:M1729L;ENSP00000416578:M1729L;ENSP00000172853:M1729L	ENSP00000172853:M1729L	M	-	1	0	NEB	152230146	0.998000	0.40836	1.000000	0.80357	0.925000	0.55904	3.445000	0.52921	2.367000	0.80283	0.528000	0.53228	ATG		0.507	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		33	41	33	41
KLHL30	377007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	239051515	239051515	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:239051515G>A	ENST00000409223.1	+	3	957	c.850G>A	c.(850-852)Gca>Aca	p.A284T	KLHL30_ENST00000305959.4_Missense_Mutation_p.A266T			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	284										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGAGGAGGAGGCAGGTGAGGA	0.672																																																0													27.0	42.0	37.0					2																	239051515		2051	4186	6237	SO:0001583	missense	377007				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.850G>A	2.37:g.239051515G>A	ENSP00000386389:p.Ala284Thr		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	5.000	0.185739	0.09495	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.73789	-0.77;-0.78	4.67	4.67	0.58626	Kelch-type beta propeller (1);	0.859088	0.10313	N	0.689694	T	0.57533	0.2060	N	0.08118	0	0.20821	N	0.999847	B	0.19817	0.039	B	0.12837	0.008	T	0.31223	-0.9951	10	0.18276	T	0.48	.	16.3356	0.83059	0.0:0.0:1.0:0.0	.	284	Q0D2K2	KLH30_HUMAN	T	284;266	ENSP00000386389:A284T;ENSP00000302386:A266T	ENSP00000302386:A266T	A	+	1	0	KLHL30	238716254	1.000000	0.71417	0.714000	0.30535	0.080000	0.17528	7.226000	0.78060	2.156000	0.67533	0.555000	0.69702	GCA		0.672	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		6	18	6	18
SI	6476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	164776970	164776970	+	Missense_Mutation	SNP	A	A	G	rs148511215		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:164776970A>G	ENST00000264382.3	-	11	1326	c.1264T>C	c.(1264-1266)Tat>Cat	p.Y422H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	422	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATGATGACATATTTCTGTCCA	0.323										HNSCC(35;0.089)																																						0													119.0	113.0	115.0					3																	164776970		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1264T>C	3.37:g.164776970A>G	ENSP00000264382:p.Tyr422His		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129207	0.77549	.	.	ENSG00000090402	ENST00000264382	D	0.92965	-3.14	5.71	5.71	0.89125	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	H	0.97732	4.065	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.99097	1.0842	10	0.87932	D	0	.	15.9855	0.80147	1.0:0.0:0.0:0.0	.	422	P14410	SUIS_HUMAN	H	422	ENSP00000264382:Y422H	ENSP00000264382:Y422H	Y	-	1	0	SI	166259664	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.857000	0.92250	2.179000	0.69175	0.528000	0.53228	TAT		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		16	102	16	102
FSTL5	56884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	162577528	162577528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr4:162577528C>T	ENST00000306100.5	-	7	1282	c.846G>A	c.(844-846)tgG>tgA	p.W282*	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.W281*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.W281*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.W281*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	282	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.W282*(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGTTCCTTTTCCAGATAATGG	0.353																																																1	Substitution - Nonsense(1)	large_intestine(1)											63.0	63.0	63.0					4																	162577528		2203	4300	6503	SO:0001587	stop_gained	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.846G>A	4.37:g.162577528C>T	ENSP00000305334:p.Trp282*		E9PCP6|Q9NSW7|Q9ULF7	Nonsense_Mutation	SNP	ENST00000306100.5	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	41	8.774941	0.98950	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.38	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4143	0.60959	0.0:0.9241:0.0:0.0759	.	.	.	.	X	282;281;281;281	.	ENSP00000305334:W282X	W	-	3	0	FSTL5	162796978	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.421000	0.80204	1.396000	0.46663	0.650000	0.86243	TGG		0.353	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		18	106	18	106
PSD3	23362	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	18725224	18725224	+	Missense_Mutation	SNP	T	T	C	rs62636654	byFrequency	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr8:18725224T>C	ENST00000327040.8	-	4	1696	c.1594A>G	c.(1594-1596)Atc>Gtc	p.I532V	PSD3_ENST00000523619.1_Missense_Mutation_p.I467V|PSD3_ENST00000440756.2_Missense_Mutation_p.I532V	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	532					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCGTGTAGATGGAGTCGCTG	0.507																																																0													106.0	103.0	104.0					8																	18725224		2063	4206	6269	SO:0001583	missense	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1594A>G	8.37:g.18725224T>C	ENSP00000324127:p.Ile532Val		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	T	2.378	-0.342659	0.05243	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.09255	3.0;3.0;3.0	5.48	-2.93	0.05598	.	0.730448	0.12559	N	0.458372	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45906	-0.9229	10	0.13470	T	0.59	.	7.2004	0.25877	0.0:0.4531:0.1353:0.4116	.	532	E9KL50	.	V	532;532;467	ENSP00000324127:I532V;ENSP00000401704:I532V;ENSP00000430640:I467V	ENSP00000324127:I532V	I	-	1	0	PSD3	18769504	0.024000	0.19004	0.006000	0.13384	0.562000	0.35680	-0.466000	0.06672	-0.329000	0.08527	0.528000	0.53228	ATC		0.507	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		73	111	73	111
KCNU1	157855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	36671795	36671795	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr8:36671795A>G	ENST00000399881.3	+	8	840	c.803A>G	c.(802-804)tAc>tGc	p.Y268C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	268					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GAGTCAATTTACCTGGTCATG	0.433																																																0													71.0	68.0	69.0					8																	36671795		1874	4091	5965	SO:0001583	missense	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.803A>G	8.37:g.36671795A>G	ENSP00000382770:p.Tyr268Cys			Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885718	0.51908	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	D;D	0.98968	-5.28;-5.28	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.34959	U	0.003555	D	0.99077	0.9683	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99690	1.1001	10	0.87932	D	0	-3.4403	14.3553	0.66733	1.0:0.0:0.0:0.0	.	268	A8MYU2	KCNU1_HUMAN	C	268	ENSP00000429951:Y268C;ENSP00000382770:Y268C	ENSP00000382770:Y268C	Y	+	2	0	KCNU1	36790953	1.000000	0.71417	0.947000	0.38551	0.043000	0.13939	8.706000	0.91362	2.031000	0.59945	0.383000	0.25322	TAC		0.433	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		8	63	8	63
KLHL9	55958	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	21333865	21333865	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr9:21333865G>A	ENST00000359039.4	-	1	1514	c.994C>T	c.(994-996)Cca>Tca	p.P332S	KLHL9_ENST00000537938.1_Missense_Mutation_p.P264S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	332					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCATCCATTGGGGCTAAAGAT	0.418																																																0													163.0	154.0	157.0					9																	21333865		2203	4300	6503	SO:0001583	missense	55958			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.994C>T	9.37:g.21333865G>A	ENSP00000351933:p.Pro332Ser		Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244760	0.22796	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.65732	-0.17;-0.17	5.13	4.16	0.48862	Galactose oxidase, beta-propeller (1);	0.063139	0.64402	U	0.000005	T	0.52821	0.1758	L	0.41236	1.265	0.80722	D	1	B	0.29188	0.236	B	0.31442	0.13	T	0.51903	-0.8646	10	0.33940	T	0.23	.	13.1257	0.59354	0.0:0.1621:0.8379:0.0	.	332	Q9P2J3	KLHL9_HUMAN	S	332;264	ENSP00000351933:P332S;ENSP00000437733:P264S	ENSP00000351933:P332S	P	-	1	0	KLHL9	21323865	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.582000	0.74049	2.572000	0.86782	0.650000	0.86243	CCA		0.418	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		91	145	91	145
SIT1	27240	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	35650242	35650242	+	Splice_Site	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr9:35650242C>T	ENST00000259608.3	-	4	382	c.296G>A	c.(295-297)gGa>gAa	p.G99E	SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	99					immune system process (GO:0002376)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	kinase binding (GO:0019900)|SH2 domain binding (GO:0042169)			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGACAGCCGTCCTGGGACGGG	0.627																																																0													72.0	76.0	75.0					9																	35650242		2203	4300	6503	SO:0001630	splice_region_variant	27240				CCDS6582.1	9p13-p12	2008-02-05	2005-04-26		ENSG00000137078	ENSG00000137078			17710	protein-coding gene	gene with protein product	"""SHP2 interacting transmembrane adaptor"""	604964	"""suppression inducing transmembrane adaptor 1"""			11491537, 10209036	Standard	NM_014450		Approved	SIT	uc003zxe.1	Q9Y3P8	OTTHUMG00000019867	ENST00000259608.3:c.296-1G>A	9.37:g.35650242C>T			B2RBP9	Splice_Site	SNP	ENST00000259608.3	37	CCDS6582.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600744	0.66332	.	.	ENSG00000137078	ENST00000259608	T	0.41758	0.99	5.03	5.03	0.67393	.	0.000000	0.50627	D	0.000117	T	0.53367	0.1792	L	0.34521	1.04	0.44685	D	0.997672	D	0.89917	1.0	D	0.91635	0.999	T	0.56141	-0.8028	10	0.87932	D	0	.	14.2426	0.65966	0.0:1.0:0.0:0.0	.	99	Q9Y3P8	SIT1_HUMAN	E	99	ENSP00000259608:G99E	ENSP00000259608:G99E	G	-	2	0	SIT1	35640242	1.000000	0.71417	0.999000	0.59377	0.623000	0.37688	2.234000	0.43035	2.504000	0.84457	0.462000	0.41574	GGA		0.627	SIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052322.1	NM_014450	Missense_Mutation	55	78	55	78
ARSE	415	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	2867631	2867631	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:2867631G>A	ENST00000381134.3	-	6	634	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	ARSE_ENST00000545496.1_Missense_Mutation_p.R215C|ARSE_ENST00000540563.1_Missense_Mutation_p.R145C	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	190					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGTTGACACGCTTCTCTGAG	0.527																																																0													123.0	104.0	110.0					X																	2867631		2203	4300	6503	SO:0001583	missense	415			X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.568C>T	X.37:g.2867631G>A	ENSP00000370526:p.Arg190Cys		Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	g	11.36	1.614487	0.28712	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.93811	-3.29;-3.29;-3.29	3.56	2.68	0.31781	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.305729	0.26851	U	0.022177	D	0.94427	0.8207	M	0.78801	2.425	0.09310	N	1	D;D;P	0.67145	0.996;0.996;0.727	P;P;B	0.61800	0.894;0.894;0.233	D	0.86755	0.1963	10	0.36615	T	0.2	.	5.1009	0.14759	0.2124:0.1705:0.6172:0.0	.	145;215;190	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	C	145;215;190	ENSP00000438198:R145C;ENSP00000441417:R215C;ENSP00000370526:R190C	ENSP00000370526:R190C	R	-	1	0	ARSE	2877631	0.011000	0.17503	0.435000	0.26784	0.040000	0.13550	1.293000	0.33353	0.377000	0.24735	0.597000	0.82753	CGT		0.527	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		9	77	9	77
MAGEB2	4113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	30237371	30237371	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:30237371A>T	ENST00000378988.4	+	2	775	c.674A>T	c.(673-675)gAa>gTa	p.E225V		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	225	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAGATCTGGGAATTCCTGAAT	0.483																																																0													70.0	62.0	64.0					X																	30237371		2202	4300	6502	SO:0001583	missense	4113			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.674A>T	X.37:g.30237371A>T	ENSP00000368273:p.Glu225Val		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.014951	0.75161	.	.	ENSG00000099399	ENST00000378988	T	0.05649	3.41	3.27	3.27	0.37495	.	0.309163	0.34314	N	0.004077	T	0.16727	0.0402	M	0.93283	3.4	0.20489	N	0.999898	P	0.47762	0.9	P	0.45449	0.481	T	0.20974	-1.0259	10	0.87932	D	0	.	7.3268	0.26560	1.0:0.0:0.0:0.0	.	225	O15479	MAGB2_HUMAN	V	225	ENSP00000368273:E225V	ENSP00000368273:E225V	E	+	2	0	MAGEB2	30147292	0.826000	0.29277	0.383000	0.26132	0.906000	0.53458	1.531000	0.36018	1.539000	0.49286	0.356000	0.21956	GAA		0.483	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		14	63	14	63
PGRMC1	10857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	118370561	118370561	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:118370561C>T	ENST00000217971.7	+	1	346	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	PGRMC1_ENST00000535419.1_Missense_Mutation_p.R79W	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	79	Cytochrome b5 heme-binding.				axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)			lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	CGCCGAGCTGCGGCGCTTCGA	0.711																																																0													9.0	10.0	10.0					X																	118370561		2163	4231	6394	SO:0001583	missense	10857				CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.235C>T	X.37:g.118370561C>T	ENSP00000217971:p.Arg79Trp		B7Z1L3|Q9UGJ9	Missense_Mutation	SNP	ENST00000217971.7	37	CCDS14576.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.406653	0.83230	.	.	ENSG00000101856	ENST00000217971;ENST00000535419	D;D	0.81579	-1.51;-1.51	5.04	4.14	0.48551	Cytochrome b5 (3);	0.156799	0.49916	D	0.000128	D	0.89371	0.6696	M	0.86343	2.81	0.51012	D	0.999903	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.978	D	0.88955	0.3389	10	0.52906	T	0.07	-6.2763	10.6275	0.45516	0.3566:0.6434:0.0:0.0	.	79;79	B7Z1L3;O00264	.;PGRC1_HUMAN	W	79	ENSP00000217971:R79W;ENSP00000442821:R79W	ENSP00000217971:R79W	R	+	1	2	PGRMC1	118254589	1.000000	0.71417	0.997000	0.53966	0.818000	0.46254	2.114000	0.41911	0.848000	0.35191	0.523000	0.50628	CGG		0.711	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058024.1	NM_006667		16	31	16	31
LAMP2	3920	hgsc.bcm.edu;broad.mit.edu	37	X	119581704	119581704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:119581704G>A	ENST00000200639.4	-	5	869	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	LAMP2_ENST00000538785.1_Nonsense_Mutation_p.Q134*|LAMP2_ENST00000540603.1_Nonsense_Mutation_p.Q198*|LAMP2_ENST00000434600.2_Nonsense_Mutation_p.Q245*|LAMP2_ENST00000371335.4_Nonsense_Mutation_p.Q245*			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	245	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						ACCTTATCCTGAGTGATGTTC	0.403																																																0													205.0	169.0	181.0					X																	119581704		2203	4300	6503	SO:0001587	stop_gained	3920			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.733C>T	X.37:g.119581704G>A	ENSP00000200639:p.Gln245*		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Nonsense_Mutation	SNP	ENST00000200639.4	37	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	g	37	6.198455	0.97367	.	.	ENSG00000005893	ENST00000434600;ENST00000538785;ENST00000200639;ENST00000371335;ENST00000540603	.	.	.	5.92	2.85	0.33270	.	1.148760	0.06230	N	0.688518	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	0.8324	5.98	0.19401	0.0773:0.2273:0.5683:0.1272	.	.	.	.	X	245;134;245;245;198	.	ENSP00000200639:Q245X	Q	-	1	0	LAMP2	119465732	1.000000	0.71417	0.855000	0.33649	0.991000	0.79684	1.756000	0.38390	0.611000	0.30052	0.597000	0.82753	CAG		0.403	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			19	258	19	258
NAIP	4671	broad.mit.edu;ucsc.edu	37	5	70308387	70308387	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr5:70308387C>T	ENST00000517649.1	-	4	646	c.356G>A	c.(355-357)aGg>aAg	p.R119K	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.R119K|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.R119K	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	119					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGGATGAAACCTCTTGTGGTC	0.473																																																0													142.0	124.0	130.0					5																	70308387		2202	4296	6498	SO:0001583	missense	4671			U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.356G>A	5.37:g.70308387C>T	ENSP00000428657:p.Arg119Lys		B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.367315	0.00212	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.70282	-0.47;-0.47;-0.47	3.26	-4.25	0.03766	Baculoviral inhibition of apoptosis protein repeat (5);	1.158280	0.07117	N	0.843312	T	0.36771	0.0979	N	0.03115	-0.41	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.001	T	0.38735	-0.9647	10	0.02654	T	1	.	5.7019	0.17887	0.0:0.3575:0.1413:0.5013	.	119;119	E7EQW0;Q13075	.;BIRC1_HUMAN	K	119	ENSP00000428657:R119K;ENSP00000443944:R119K;ENSP00000429545:R119K	ENSP00000443944:R119K	R	-	2	0	NAIP	70344143	0.001000	0.12720	0.001000	0.08648	0.093000	0.18481	-0.133000	0.10451	-0.790000	0.04492	-1.884000	0.00543	AGG		0.473	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		65	98	65	98
HEBP1	50865	broad.mit.edu;ucsc.edu	37	12	13155006	13155006	+	5'Flank	SNP	G	G	C			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr12:13155006G>C	ENST00000014930.4	-	0	0				HEBP1_ENST00000536942.1_5'Flank|RP11-377D9.3_ENST00000543321.1_lincRNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1						circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CGTACCCTATGAGGCAGAAGG	0.483																																																0																																										SO:0001631	upstream_gene_variant	0			AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771		12.37:g.13155006G>C	Exception_encountered		A8K1G2|Q9Y5Z5	RNA	SNP	ENST00000014930.4	37	CCDS31749.1																																																																																				0.483	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			4	15	4	15
PDHA1	5160	broad.mit.edu;ucsc.edu	37	X	19368118	19368118	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:19368118G>C	ENST00000422285.2	+	3	286	c.181G>C	c.(181-183)Ggg>Cgg	p.G61R	PDHA1_ENST00000540249.1_Missense_Mutation_p.G61R|PDHA1_ENST00000545074.1_Missense_Mutation_p.G61R|PDHA1_ENST00000379805.3_Missense_Mutation_p.G61R|PDHA1_ENST00000379806.5_Missense_Mutation_p.G99R			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	61					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CAGGGAGGATGGGCTCAAATA	0.453																																																0													184.0	146.0	159.0					X																	19368118		2203	4300	6503	SO:0001583	missense	5160				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.181G>C	X.37:g.19368118G>C	ENSP00000394382:p.Gly61Arg		A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825020	0.90955	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000417819;ENST00000422285;ENST00000355808;ENST00000379815;ENST00000379805	D;D;D;D;D;D;D;D	0.99167	-4.29;-4.29;-4.29;-4.29;-5.51;-4.29;-4.29;-4.29	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.99152	0.9707	M	0.79475	2.455	0.80722	D	1	B;D;D;D;D	0.76494	0.107;0.999;0.999;0.996;0.999	B;D;D;D;D	0.70016	0.027;0.957;0.967;0.931;0.967	D	0.99904	1.1172	10	0.30078	T	0.28	-2.7899	18.046	0.89332	0.0:0.0:1.0:0.0	.	61;61;61;99;61	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	R	99;61;61;99;89;61;61;89;61	ENSP00000369134:G99R;ENSP00000438550:G61R;ENSP00000440761:G61R;ENSP00000406473:G99R;ENSP00000404616:G89R;ENSP00000394382:G61R;ENSP00000348062:G61R;ENSP00000369133:G61R	ENSP00000348062:G61R	G	+	1	0	PDHA1	19278039	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.466000	0.80914	2.283000	0.76528	0.600000	0.82982	GGG		0.453	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			75	98	75	98
BRWD1	54014	broad.mit.edu;ucsc.edu	37	21	40590181	40590181	+	Missense_Mutation	SNP	C	C	T	rs75547980		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr21:40590181C>T	ENST00000333229.2	-	31	3883	c.3556G>A	c.(3556-3558)Gca>Aca	p.A1186T	BRWD1_ENST00000342449.3_Missense_Mutation_p.A1186T|BRWD1_ENST00000380800.3_Missense_Mutation_p.A1186T|BRWD1-IT1_ENST00000435608.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1186	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAGGGCCTGCAAAAGCTGCT	0.368																																					Melanoma(170;988 1986 4794 16843 39731)											0													104.0	104.0	104.0					21																	40590181		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3556G>A	21.37:g.40590181C>T	ENSP00000330753:p.Ala1186Thr		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.92|15.92	2.974675|2.974675	0.53720|0.53720	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	T;T;T|.	0.30182|.	1.54;1.54;1.54|.	5.56|5.56	4.66|4.66	0.58398|0.58398	Bromodomain (5);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.68815|0.68815	0.3042|0.3042	L|L	0.55743|0.55743	1.74|1.74	0.80722|0.80722	D|D	1|1	B;P;P|.	0.45715|.	0.123;0.581;0.865|.	B;B;P|.	0.54346|.	0.198;0.287;0.749|.	T|T	0.67213|0.67213	-0.5727|-0.5727	10|5	0.45353|.	T|.	0.12|.	-5.9784|-5.9784	15.5786|15.5786	0.76414|0.76414	0.1391:0.8609:0.0:0.0|0.1391:0.8609:0.0:0.0	.|.	1186;1186;1186|.	Q9NSI6-3;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	T|Y	1186;1186;1186;190|171	ENSP00000330753:A1186T;ENSP00000344333:A1186T;ENSP00000370178:A1186T|.	ENSP00000330753:A1186T|.	A|C	-|-	1|2	0|0	BRWD1|BRWD1	39512051|39512051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	1.790000|1.790000	0.38734|0.38734	1.313000|1.313000	0.45069|0.45069	0.462000|0.462000	0.41574|0.41574	GCA|TGC		0.368	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		23	145	23	145
CIC	23152	broad.mit.edu;hgsc.bcm.edu	37	19	42795241	42795242	+	Frame_Shift_Ins	INS	-	-	GCCCCCT	rs370824841|rs574832764		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:42795241_42795242insGCCCCCT	ENST00000575354.2	+	10	2361_2362	c.2321_2322insGCCCCCT	c.(2320-2325)gcgcccfs	p.-777fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.-1686fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.-777fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGGCCCCTGCGCCCCCTGCTG	0.698			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0																																										SO:0001589	frameshift_variant	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2322_2328dupGCCCCCT	19.37:g.42795242_42795248dupGCCCCCT	ENSP00000458663:p.Ala777fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	CCDS12601.1																																																																																				0.698	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			10	30	10	30
BCOR	54880	broad.mit.edu;hgsc.bcm.edu	37	X	39933875	39933875	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:39933875delC	ENST00000378444.4	-	4	952	c.724delG	c.(724-726)gagfs	p.E242fs	BCOR_ENST00000397354.3_Frame_Shift_Del_p.E242fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.E242fs|BCOR_ENST00000342274.4_Frame_Shift_Del_p.E242fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	242					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGAAAGCGCTCCCCATTGGTG	0.577			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													76.0	53.0	61.0					X																	39933875		2202	4300	6502	SO:0001589	frameshift_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.724delG	X.37:g.39933875delC	ENSP00000367705:p.Glu242fs		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	CCDS48093.1																																																																																				0.577	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		42	66	42	66
NOTCH1	4851	ucsc.edu	37	9	139418186	139418186	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr9:139418186C>T	ENST00000277541.6	-	3	461	c.386G>A	c.(385-387)tGc>tAc	p.C129Y	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	129	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGGGCGGGCAGCGGCACTT	0.697			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													16.0	21.0	19.0					9																	139418186		2070	4203	6273	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.386G>A	9.37:g.139418186C>T	ENSP00000277541:p.Cys129Tyr		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193511	0.78902	.	.	ENSG00000148400	ENST00000277541	D	0.99992	-12.4	5.03	4.12	0.48240	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99994	0.9999	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99986	1.3250	10	0.87932	D	0	.	13.7815	0.63085	0.1549:0.8451:0.0:0.0	.	129	P46531	NOTC1_HUMAN	Y	129	ENSP00000277541:C129Y	ENSP00000277541:C129Y	C	-	2	0	NOTCH1	138538007	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.861000	0.69553	1.058000	0.40530	0.561000	0.74099	TGC		0.697	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		2	16	2	16
