#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
PLCE1	51196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	96084175	96084175	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr10:96084175G>A	ENST00000371380.3	+	30	6806	c.6571G>A	c.(6571-6573)Gaa>Aaa	p.E2191K	PLCE1_ENST00000260766.3_Missense_Mutation_p.E2191K|PLCE1_ENST00000371375.1_Missense_Mutation_p.E1883K|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1883K			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2191	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTGCTTTTGGAAGAGGTGGT	0.448																																																0													207.0	202.0	204.0					10																	96084175		1892	4127	6019	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6571G>A	10.37:g.96084175G>A	ENSP00000360431:p.Glu2191Lys		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010989	0.93346	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.70399	-0.47;-0.47;-0.48;-0.48	5.59	4.69	0.59074	Ras-association (3);	0.119802	0.56097	D	0.000036	D	0.83580	0.5285	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85829	0.1390	10	0.87932	D	0	.	13.9937	0.64382	0.0735:0.0:0.9265:0.0	.	2175;1883;2191	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	K	2191;2191;1883;1883	ENSP00000260766:E2191K;ENSP00000360431:E2191K;ENSP00000360438:E1883K;ENSP00000360426:E1883K	ENSP00000260766:E2191K	E	+	1	0	PLCE1	96074165	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.434000	0.97515	1.365000	0.46057	0.655000	0.94253	GAA		0.448	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		130	159	130	159
NT5DC3	51559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	104179169	104179169	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr12:104179169A>G	ENST00000392876.3	-	12	1313	c.1273T>C	c.(1273-1275)Tac>Cac	p.Y425H		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	425						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTTTGAATGTATTGCTCCGTG	0.428																																																0													243.0	203.0	216.0					12																	104179169		2203	4300	6503	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1273T>C	12.37:g.104179169A>G	ENSP00000376615:p.Tyr425His		Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840039	0.91117	.	.	ENSG00000111696	ENST00000392876	T	0.22945	1.93	5.46	5.46	0.80206	HAD-like domain (1);	0.055966	0.64402	D	0.000001	T	0.48589	0.1508	M	0.78456	2.415	0.58432	D	0.999997	D	0.55605	0.972	P	0.59288	0.855	T	0.50242	-0.8851	9	.	.	.	-29.2304	15.5351	0.75996	1.0:0.0:0.0:0.0	.	425	Q86UY8	NT5D3_HUMAN	H	425	ENSP00000376615:Y425H	.	Y	-	1	0	NT5DC3	102703299	1.000000	0.71417	0.989000	0.46669	0.972000	0.66771	9.283000	0.95860	2.070000	0.61991	0.533000	0.62120	TAC		0.428	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		47	56	47	56
TCP11L2	255394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	106729466	106729466	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr12:106729466A>C	ENST00000299045.3	+	7	996	c.822A>C	c.(820-822)gaA>gaC	p.E274D		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	274										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TAAATGAAGAATTATTTTCTC	0.398																																																0													68.0	73.0	71.0					12																	106729466		2203	4300	6503	SO:0001583	missense	255394			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.822A>C	12.37:g.106729466A>C	ENSP00000299045:p.Glu274Asp		B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312466	0.40895	.	.	ENSG00000166046	ENST00000299045	T	0.13089	2.62	6.03	1.2	0.21068	.	0.095525	0.64402	D	0.000001	T	0.14657	0.0354	M	0.61703	1.905	0.80722	D	1	P	0.44478	0.836	P	0.46885	0.53	T	0.22312	-1.0220	10	0.12766	T	0.61	-1.7827	5.6756	0.17747	0.5985:0.1308:0.2707:0.0	.	274	Q8N4U5	T11L2_HUMAN	D	274	ENSP00000299045:E274D	ENSP00000299045:E274D	E	+	3	2	TCP11L2	105253596	0.979000	0.34478	0.663000	0.29738	0.973000	0.67179	0.361000	0.20267	0.181000	0.19994	0.533000	0.62120	GAA		0.398	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		33	40	33	40
POLG	5428	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	89864982	89864982	+	Silent	SNP	G	G	A	rs372456693		TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr15:89864982G>A	ENST00000268124.5	-	16	2916	c.2583C>T	c.(2581-2583)acC>acT	p.T861T	POLG_ENST00000442287.2_Silent_p.T861T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	861					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CATTGCTGGCGGTGAGCCATG	0.602								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0008	0.0	5008	,	,		18080	0.0		0.0	False		,,,				2504	0.0				Colon(73;648 1203 11348 18386 27782)											0								G	,	0,4400		0,0,2200	70.0	71.0	71.0		2583,2583	-10.5	0.9	15		71	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	POLG	NM_001126131.1,NM_002693.2	,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,	861/1240,861/1240	89864982	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2583C>T	15.37:g.89864982G>A			Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	37	CCDS10350.1																																																																																				0.602	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		50	71	50	71
MARVELD3	91862	hgsc.bcm.edu;ucsc.edu	37	16	71668568	71668568	+	Silent	SNP	C	C	T			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr16:71668568C>T	ENST00000268485.3	+	3	1112	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	356	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GCTGCAGTTTCCACGGAGCAG	0.542																																																0													78.0	70.0	72.0					16																	71668568		2198	4300	6498	SO:0001819	synonymous_variant	91862			BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.1068C>T	16.37:g.71668568C>T			A8K820|H3BQM5|Q96MJ4	Silent	SNP	ENST00000268485.3	37	CCDS10904.1																																																																																				0.542	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		42	49	42	49
KRT34	3885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	39538275	39538275	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr17:39538275C>T	ENST00000394001.1	-	1	380	c.350G>A	c.(349-351)cGt>cAt	p.R117H		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	117	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CTCCAGCTGACGCACCTTCTC	0.597																																																0													84.0	79.0	81.0					17																	39538275		2203	4300	6503	SO:0001583	missense	3885			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.350G>A	17.37:g.39538275C>T	ENSP00000377570:p.Arg117His		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	c	23.0	4.361531	0.82353	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.82	5.82	0.92795	Filament (1);	0.000000	0.64402	D	0.000008	T	0.74084	0.3670	M	0.78223	2.4	0.41663	D	0.989193	D	0.55800	0.973	P	0.56088	0.791	T	0.77493	-0.2567	9	0.72032	D	0.01	.	12.4564	0.55706	0.0:0.924:0.0:0.076	.	117	O76011	KRT34_HUMAN	H	75;117	.	ENSP00000251648:R117H	R	-	2	0	KRT34	36791801	0.999000	0.42202	0.964000	0.40570	0.752000	0.42762	4.007000	0.57093	2.764000	0.94973	0.650000	0.86243	CGT		0.597	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		80	136	80	136
DSG2	1829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	29102122	29102122	+	Silent	SNP	C	C	T	rs535646295		TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr18:29102122C>T	ENST00000261590.8	+	6	809	c.600C>T	c.(598-600)atC>atT	p.I200I	DSG2_ENST00000585206.1_Silent_p.I200I	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	200	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCTATAGAATCGTATCTCTGG	0.378																																																0													103.0	98.0	99.0					18																	29102122		1855	4096	5951	SO:0001819	synonymous_variant	1829			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.600C>T	18.37:g.29102122C>T			Q4KKU6	Silent	SNP	ENST00000261590.8	37	CCDS42423.1																																																																																				0.378	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		17	42	17	42
KCNG2	26251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	77624219	77624219	+	Silent	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr18:77624219G>A	ENST00000316249.3	+	1	552	c.552G>A	c.(550-552)gtG>gtA	p.V184V		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	184					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGTGTCCGTGTCCTTCGTGG	0.766																																																0													17.0	16.0	16.0					18																	77624219		1963	3934	5897	SO:0001819	synonymous_variant	26251			AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.552G>A	18.37:g.77624219G>A				Silent	SNP	ENST00000316249.3	37	CCDS12019.1																																																																																				0.766	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		16	44	16	44
PRAMEF1	65121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	12853498	12853498	+	Missense_Mutation	SNP	T	T	G	rs544609656		TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr1:12853498T>G	ENST00000332296.7	+	2	225	c.122T>G	c.(121-123)aTg>aGg	p.M41R	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	41					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACTCTTCATGGAGGCCTTC	0.587													t|||	1	0.000199681	0.0	0.0	5008	,	,		21532	0.001		0.0	False		,,,				2504	0.0															0													97.0	102.0	100.0					1																	12853498		2203	4296	6499	SO:0001583	missense	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.122T>G	1.37:g.12853498T>G	ENSP00000332134:p.Met41Arg		Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	5.072	0.198998	0.09652	.	.	ENSG00000116721	ENST00000332296	T	0.05786	3.39	1.61	0.302	0.15786	.	1.033810	0.07622	N	0.927202	T	0.08133	0.0203	M	0.70787	2.145	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.42361	-0.9456	10	0.31617	T	0.26	.	3.4941	0.07649	0.3827:0.0:0.0:0.6173	.	41	O95521	PRAM1_HUMAN	R	41	ENSP00000332134:M41R	ENSP00000332134:M41R	M	+	2	0	PRAMEF1	12776085	0.021000	0.18746	0.003000	0.11579	0.035000	0.12851	-0.581000	0.05820	0.063000	0.16370	0.438000	0.28831	ATG		0.587	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		103	37	103	37
PKP1	5317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	201282317	201282317	+	Silent	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr1:201282317G>A	ENST00000352845.3	+	3	330	c.330G>A	c.(328-330)cgG>cgA	p.R110R	PKP1_ENST00000263946.3_Silent_p.R110R|PKP1_ENST00000367324.3_Silent_p.R110R			Q13835	PKP1_HUMAN	plakophilin 1	110					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCCTCAAGCGGGAGCCTGACA	0.592																																																0													12.0	14.0	13.0					1																	201282317		2200	4298	6498	SO:0001819	synonymous_variant	5317			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.330G>A	1.37:g.201282317G>A			O00645|Q14CA0|Q15152	Silent	SNP	ENST00000352845.3	37	CCDS30966.1																																																																																				0.592	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		6	5	6	5
ARFGEF2	10564	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	47626800	47626800	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr20:47626800T>C	ENST00000371917.4	+	27	3616	c.3616T>C	c.(3616-3618)Tgc>Cgc	p.C1206R		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1206					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGCGATCCGCTGCATTGCCCA	0.537																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)											0													127.0	112.0	117.0					20																	47626800		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3616T>C	20.37:g.47626800T>C	ENSP00000360985:p.Cys1206Arg		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.726767	0.89298	.	.	ENSG00000124198	ENST00000371917	T	0.66280	-0.2	5.33	5.33	0.75918	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85588	0.5731	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90331	0.4352	10	0.87932	D	0	.	15.6241	0.76840	0.0:0.0:0.0:1.0	.	1206	Q9Y6D5	BIG2_HUMAN	R	1206	ENSP00000360985:C1206R	ENSP00000360985:C1206R	C	+	1	0	ARFGEF2	47060207	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.145000	0.66743	0.533000	0.62120	TGC		0.537	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		27	93	27	93
RNF103	7844	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	86831209	86831209	+	Silent	SNP	T	T	C			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr2:86831209T>C	ENST00000237455.4	-	4	2783	c.1815A>G	c.(1813-1815)gaA>gaG	p.E605E	AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'Flank|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	605					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ACCAATCAGGTTCCATATCTT	0.413																																																0													265.0	250.0	255.0					2																	86831209		2203	4300	6503	SO:0001819	synonymous_variant	7844			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1815A>G	2.37:g.86831209T>C			A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Silent	SNP	ENST00000237455.4	37	CCDS33237.1																																																																																				0.413	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		99	176	99	176
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	142567938	142567938	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr2:142567938A>G	ENST00000389484.3	-	2	1086	c.115T>C	c.(115-117)Tgc>Cgc	p.C39R	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	39	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATCGTGGCAAAGAAATTCA	0.443										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0													60.0	58.0	59.0					2																	142567938		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.115T>C	2.37:g.142567938A>G	ENSP00000374135:p.Cys39Arg		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.493859	0.84962	.	.	ENSG00000168702	ENST00000389484;ENST00000434794	D;D	0.99919	-6.75;-8.0	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.99949	0.9978	H	0.98487	4.245	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.996;0.996	D	0.95963	0.8963	10	0.87932	D	0	.	15.4882	0.75584	1.0:0.0:0.0:0.0	.	77;39	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	R	39	ENSP00000374135:C39R;ENSP00000413239:C39R	ENSP00000374135:C39R	C	-	1	0	LRP1B	142284408	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.287000	0.89918	2.141000	0.66446	0.528000	0.53228	TGC		0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		22	17	22	17
IDH1	3417	hgsc.bcm.edu;broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	39	32	39
FBXO36	130888	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	230861511	230861511	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr2:230861511A>G	ENST00000283946.3	+	3	268	c.250A>G	c.(250-252)Atc>Gtc	p.I84V	FBXO36_ENST00000409992.1_Intron|FBXO36_ENST00000373652.3_Missense_Mutation_p.I53V	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	84										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGACTATGTCATCAATTTGTG	0.348																																																0													169.0	163.0	165.0					2																	230861511		2203	4300	6503	SO:0001583	missense	130888			BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"""F-boxes /  ""other"""""	27020	protein-coding gene	gene with protein product		609105	"""F-box only protein 36"""			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.250A>G	2.37:g.230861511A>G	ENSP00000283946:p.Ile84Val		B3KVQ6|Q53TE6|Q8WWD4	Missense_Mutation	SNP	ENST00000283946.3	37	CCDS2472.1	.	.	.	.	.	.	.	.	.	.	A	3.883	-0.025499	0.07589	.	.	ENSG00000153832	ENST00000373652;ENST00000283946	T;T	0.40756	1.02;1.02	5.37	-0.789	0.10935	.	0.752883	0.12427	N	0.469853	T	0.14960	0.0361	N	0.03608	-0.345	0.53005	D	0.999965	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.005	T	0.16041	-1.0416	10	0.15952	T	0.53	-18.6358	4.2447	0.10665	0.2602:0.2439:0.0:0.4959	.	53;84	B3KVQ6;Q8NEA4	.;FBX36_HUMAN	V	53;84	ENSP00000362756:I53V;ENSP00000283946:I84V	ENSP00000283946:I84V	I	+	1	0	FBXO36	230569755	0.917000	0.31117	0.990000	0.47175	0.054000	0.15201	-0.065000	0.11617	0.031000	0.15407	-0.527000	0.04329	ATC		0.348	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	NM_174899		53	74	53	74
CLIP2	7461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	73731911	73731911	+	Missense_Mutation	SNP	G	G	A	rs151111065		TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr7:73731911G>A	ENST00000395060.1	+	1	35	c.35G>A	c.(34-36)cGt>cAt	p.R12H	CLIP2_ENST00000361545.5_Missense_Mutation_p.R12H|CLIP2_ENST00000223398.6_Missense_Mutation_p.R12H			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	12						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCCCCGGCCGTGGGGGGAAG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		18516	0.0		0.001	False		,,,				2504	0.0															0								G	HIS/ARG,HIS/ARG	2,4404		0,2,2201	46.0	52.0	50.0		35,35	4.5	1.0	7	dbSNP_134	50	0,8600		0,0,4300	yes	missense,missense	CLIP2	NM_003388.4,NM_032421.2	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	12/1047,12/1012	73731911	2,13004	2203	4300	6503	SO:0001583	missense	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.35G>A	7.37:g.73731911G>A	ENSP00000378500:p.Arg12His		O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112826	0.77210	4.54E-4	0.0	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.62941	-0.01;0.09;-0.01	4.52	4.52	0.55395	.	0.078791	0.46758	D	0.000271	T	0.67988	0.2952	L	0.29908	0.895	0.44380	D	0.997287	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.71108	-0.4688	10	0.72032	D	0.01	-6.8839	12.629	0.56646	0.0:0.0:1.0:0.0	.	12;12	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	H	12	ENSP00000223398:R12H;ENSP00000355151:R12H;ENSP00000378500:R12H	ENSP00000223398:R12H	R	+	2	0	CLIP2	73369847	1.000000	0.71417	0.989000	0.46669	0.719000	0.41307	4.642000	0.61383	2.340000	0.79590	0.561000	0.74099	CGT		0.662	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		36	108	36	108
DLX5	1749	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	96650149	96650149	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr7:96650149C>T	ENST00000222598.4	-	3	1242	c.769G>A	c.(769-771)Gca>Aca	p.A257T	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	257					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TACCAGGATGCAGAGTTCTCC	0.652																																																0													67.0	62.0	64.0					7																	96650149		2203	4300	6503	SO:0001583	missense	1749				CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.769G>A	7.37:g.96650149C>T	ENSP00000222598:p.Ala257Thr		B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	8.960	0.970278	0.18659	.	.	ENSG00000105880	ENST00000222598	D	0.89552	-2.53	5.81	4.88	0.63580	.	0.349086	0.31061	N	0.008328	T	0.74245	0.3691	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.54497	-0.8285	10	0.16896	T	0.51	-4.8464	3.829	0.08867	0.1428:0.5839:0.138:0.1353	.	257	P56178	DLX5_HUMAN	T	257	ENSP00000222598:A257T	ENSP00000222598:A257T	A	-	1	0	DLX5	96488085	0.021000	0.18746	0.986000	0.45419	0.776000	0.43924	0.329000	0.19698	2.746000	0.94184	0.655000	0.94253	GCA		0.652	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			37	36	37	36
KIAA0368	23392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	114170943	114170943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr9:114170943G>A	ENST00000338205.5	-	23	2779	c.2560C>T	c.(2560-2562)Cga>Tga	p.R854*	KIAA0368_ENST00000259335.4_Nonsense_Mutation_p.R1032*|KIAA0368_ENST00000374378.3_5'Flank|RNA5SP294_ENST00000411306.1_RNA			Q5VYK3	ECM29_HUMAN	KIAA0368	860					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGGATTGCTCGTTCTTTCATC	0.398																																																0													56.0	55.0	55.0					9																	114170943		1807	4071	5878	SO:0001587	stop_gained	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2560C>T	9.37:g.114170943G>A	ENSP00000339889:p.Arg854*		O15074|Q8WU82	Nonsense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	G	45	11.456122	0.99563	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	.	.	.	5.54	1.41	0.22369	.	0.078224	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	15.191	0.73044	0.0:0.0:0.4994:0.5006	.	.	.	.	X	854;1032;329	.	ENSP00000259335:R1032X	R	-	1	2	KIAA0368	113210764	0.999000	0.42202	0.991000	0.47740	0.998000	0.95712	1.819000	0.39022	-0.008000	0.14320	0.655000	0.94253	CGA		0.398	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		12	5	12	5
PCDHGA7	56108	broad.mit.edu;ucsc.edu	37	5	140764645	140764645	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr5:140764645G>A	ENST00000518325.1	+	1	2179	c.2179G>A	c.(2179-2181)Gct>Act	p.A727T	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	727					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCTGCAGGCTTCAGAAGG	0.637																																																0													53.0	59.0	57.0					5																	140764645		2203	4300	6503	SO:0001583	missense	56108			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2179G>A	5.37:g.140764645G>A	ENSP00000430024:p.Ala727Thr		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	12.29	1.894046	0.33442	.	.	ENSG00000253537	ENST00000518325	T	0.51071	0.72	4.73	2.51	0.30379	.	.	.	.	.	T	0.40932	0.1137	L	0.53671	1.685	0.09310	N	1	B;B	0.22983	0.042;0.078	B;B	0.26770	0.023;0.073	T	0.28522	-1.0041	9	0.21540	T	0.41	.	9.068	0.36475	0.0:0.1142:0.5088:0.377	.	727;727	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	T	727	ENSP00000430024:A727T	ENSP00000430024:A727T	A	+	1	0	PCDHGA7	140744829	0.000000	0.05858	0.045000	0.18777	0.051000	0.14879	-0.282000	0.08445	1.068000	0.40764	0.563000	0.77884	GCT		0.637	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		49	42	49	42
VSIG4	11326	broad.mit.edu;ucsc.edu	37	X	65247365	65247365	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chrX:65247365G>A	ENST00000374737.4	-	5	869	c.761C>T	c.(760-762)aCa>aTa	p.T254I	VSIG4_ENST00000412866.2_Missense_Mutation_p.T160I|VSIG4_ENST00000455586.2_Missense_Mutation_p.T254I	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	254					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTGTAGATGTTGCTATGAA	0.468																																																0													67.0	55.0	59.0					X																	65247365		2202	4300	6502	SO:0001583	missense	11326			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.761C>T	X.37:g.65247365G>A	ENSP00000363869:p.Thr254Ile		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	CCDS14383.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076627	0.36662	.	.	ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866;ENST00000423830	T;T;T;T	0.53206	1.38;1.11;1.85;0.63	3.85	2.1	0.27182	.	1.112010	0.06895	N	0.804906	T	0.58764	0.2145	M	0.62723	1.935	0.09310	N	1	B;D;B;D;D;D	0.63880	0.001;0.993;0.002;0.987;0.959;0.987	B;P;B;P;P;P	0.60286	0.004;0.872;0.004;0.748;0.675;0.748	T	0.37267	-0.9713	10	0.39692	T	0.17	0.0647	5.6033	0.17365	0.2535:0.0:0.7465:0.0	.	160;254;177;244;160;254	C9J1L3;Q9Y279-2;C9JTJ4;C9JH67;Q9Y279-3;Q9Y279	.;.;.;.;.;VSIG4_HUMAN	I	254;254;160;177	ENSP00000363869:T254I;ENSP00000411581:T254I;ENSP00000394143:T160I;ENSP00000414594:T177I	ENSP00000363869:T254I	T	-	2	0	VSIG4	65164090	0.047000	0.20315	0.008000	0.14137	0.053000	0.15095	0.071000	0.14594	0.443000	0.26582	-0.176000	0.13171	ACA		0.468	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		8	16	8	16
LTBP3	4054	broad.mit.edu;ucsc.edu	37	11	65321228	65321228	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr11:65321228G>A	ENST00000301873.5	-	3	1076	c.808C>T	c.(808-810)Ccg>Tcg	p.P270S	LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Missense_Mutation_p.P270S	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	270					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGGGTGGGCGGCCGGGGGTGC	0.677																																																0													6.0	8.0	7.0					11																	65321228		2152	4202	6354	SO:0001583	missense	4054			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.808C>T	11.37:g.65321228G>A	ENSP00000301873:p.Pro270Ser		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659234	0.67586	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000530866	T;D;T	0.81739	-1.42;-1.53;-1.42	4.57	4.57	0.56435	Matrix fibril-associated (1);	0.127044	0.53938	D	0.000051	D	0.83940	0.5363	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;P;D;D	0.80764	0.922;0.895;0.994;0.951	T	0.80525	-0.1344	10	0.22109	T	0.4	.	14.8803	0.70528	0.0:0.0:1.0:0.0	.	181;153;270;270	E9PKW1;B9EG76;Q9NS15;Q9NS15-2	.;.;LTBP3_HUMAN;.	S	270;270;181	ENSP00000326647:P270S;ENSP00000301873:P270S;ENSP00000435276:P181S	ENSP00000301873:P270S	P	-	1	0	LTBP3	65077804	1.000000	0.71417	0.999000	0.59377	0.669000	0.39330	3.560000	0.53763	2.389000	0.81357	0.511000	0.50034	CCG		0.677	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		3	15	3	15
TCF12	6938	broad.mit.edu;hgsc.bcm.edu	37	15	57523456	57523457	+	Splice_Site	INS	-	-	T			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr15:57523456_57523457insT	ENST00000267811.5	+	9	989		c.e9+1		TCF12_ENST00000537840.1_Splice_Site|TCF12_ENST00000452095.2_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000343827.3_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000560764.1_Splice_Site|TCF12_ENST00000543579.1_Splice_Site	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTTATGCAAGGTAAGTACTACC	0.386			T	TEC	extraskeletal myxoid chondrosarcoma																																		Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	0																																										SO:0001630	splice_region_variant	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.685+1->T	15.37:g.57523457_57523457dupT			Q7Z3D9|Q86TC1|Q86VM2	Splice_Site	INS	ENST00000267811.5	37	CCDS10159.1																																																																																				0.386	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	Intron	43	60	43	60
CIC	23152	broad.mit.edu;hgsc.bcm.edu	37	19	42795074	42795075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr19:42795074_42795075insG	ENST00000575354.2	+	10	2194_2195	c.2154_2155insG	c.(2155-2157)gggfs	p.G719fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.G719fs|CIC_ENST00000572681.2_Frame_Shift_Ins_p.G1628fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	719	Pro-rich.				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)				CTCGGGTGCCTGGGGGCTCCCC	0.644			"""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.2159dupG	19.37:g.42795079_42795079dupG	ENSP00000458663:p.Gly719fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	CCDS12601.1																																																																																				0.644	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			12	7	12	7
NOTCH1	4851	ucsc.edu	37	9	139413126	139413126	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr9:139413126C>G	ENST00000277541.6	-	6	1091	c.1016G>C	c.(1015-1017)tGt>tCt	p.C339S	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	339	EGF-like 9; calcium-binding. {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)		GGCGCTGGCACAGTCATCAAT	0.637			"""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													44.0	50.0	48.0					9																	139413126		2198	4298	6496	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.1016G>C	9.37:g.139413126C>G	ENSP00000277541:p.Cys339Ser		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888726	0.91814	.	.	ENSG00000148400	ENST00000277541	D	0.92446	-3.04	5.12	5.12	0.69794	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97442	0.9163	H	0.96208	3.785	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98818	1.0746	10	0.87932	D	0	.	17.1039	0.86657	0.0:1.0:0.0:0.0	.	339	P46531	NOTC1_HUMAN	S	339	ENSP00000277541:C339S	ENSP00000277541:C339S	C	-	2	0	NOTCH1	138532947	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	7.526000	0.81920	2.374000	0.81015	0.561000	0.74099	TGT		0.637	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	77	3	77
