#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RREB1	6239	broad.mit.edu	37	6	7229727	7229727	+	Silent	SNP	C	C	T	rs138539147		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr6:7229727C>T	ENST00000349384.6	+	10	1709	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	RREB1_ENST00000334984.6_Silent_p.I465I|RREB1_ENST00000379938.2_Silent_p.I465I|RREB1_ENST00000379933.3_Silent_p.I465I	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	465					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGTCGGCCATCGAGCTGGCAG	0.602																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1393-1395)atC>atT		ras responsive element binding protein 1		C	,,,	2,4404	4.2+/-10.8	0,2,2201	77.0	83.0	81.0		1395,1395,1395,1395	-6.1	0.7	6	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,	465/1688,465/1743,465/1477,465/1688	7229727	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229727C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1395C>T	6.37:g.7229727C>T						RREB1_ENST00000349384.6_Silent_p.I465I|RREB1_ENST00000334984.6_Silent_p.I465I|RREB1_ENST00000379933.3_Silent_p.I465I	p.I465I	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	1932	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	465					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1395C>T	CCDS34336.1																																																																																				0.602	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			26	124	0	0	0	1	0	26	124				
NKX2-1	7080	broad.mit.edu	37	14	36987036	36987036	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr14:36987036G>A	ENST00000518149.1	-	3	1168	c.563C>T	c.(562-564)gCg>gTg	p.A188V	NKX2-1_ENST00000354822.5_Missense_Mutation_p.A218V|NKX2-1_ENST00000522719.2_Missense_Mutation_p.A188V|NKX2-1_ENST00000498187.2_Missense_Mutation_p.A188V|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1-AS1_ENST00000521292.2_RNA			P43699	NKX21_HUMAN	NK2 homeobox 1	188					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GCGCTCCGGCGCCGACAGGTA	0.647			A		NSCLC																																	ENST00000518149.1				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7						c.(562-564)gCg>gTg		NK2 homeobox 1							35.0	34.0	34.0					14																	36987036		2203	4300	6503	SO:0001583	missense	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36987036G>A		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.563C>T	14.37:g.36987036G>A	ENSP00000428341:p.Ala188Val					NKX2-1_ENST00000498187.2_Missense_Mutation_p.A188V|NKX2-1_ENST00000522719.2_Missense_Mutation_p.A188V|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.A218V	p.A188V			P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	3	1168	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		188					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	ENST00000518149.1	37	c.563C>T	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824760	0.90955	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99	4.39	4.39	0.52855	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96417	0.8831	L	0.33137	0.985	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.65010	0.886;0.931	D	0.97520	1.0072	10	0.87932	D	0	.	16.9385	0.86209	0.0:0.0:1.0:0.0	.	218;188	P43699-3;P43699	.;NKX21_HUMAN	V	218;188;188;188	ENSP00000346879:A218V;ENSP00000429607:A188V;ENSP00000428341:A188V;ENSP00000429519:A188V	ENSP00000346879:A218V	A	-	2	0	NKX2-1	36056787	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.634000	0.98435	2.005000	0.58758	0.555000	0.69702	GCG		0.647	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		5	19	0	0	0	1	0	5	19				
C9orf114	51490	broad.mit.edu	37	9	131588889	131588889	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr9:131588889T>G	ENST00000361256.5	-	5	428	c.388A>C	c.(388-390)Aca>Cca	p.T130P		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	130			T -> R (in dbSNP:rs6478854). {ECO:0000269|PubMed:15489334}.				poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						CCAACTCCTGTGAATTCCCCC	0.592																																						ENST00000361256.5																			0				kidney(2)|large_intestine(4)|ovary(1)	7						c.(388-390)Aca>Cca		chromosome 9 open reading frame 114							55.0	56.0	56.0					9																	131588889		2203	4300	6503	SO:0001583	missense	51490							g.chr9:131588889T>G		CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.388A>C	9.37:g.131588889T>G	ENSP00000354812:p.Thr130Pro						p.T130P	NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN			5	428	-			130		T -> R (in dbSNP:rs6478854).			Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	ENST00000361256.5	37	c.388A>C	CCDS6913.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.186525	0.38609	.	.	ENSG00000198917	ENST00000361256	T	0.43688	0.94	5.62	3.21	0.36854	.	.	.	.	.	T	0.29588	0.0738	L	0.35723	1.085	0.21386	N	0.999703	B	0.26876	0.162	B	0.31495	0.131	T	0.24440	-1.0160	9	0.31617	T	0.26	-6.783	2.2969	0.04153	0.0:0.2391:0.3029:0.458	.	130	Q5T280	CI114_HUMAN	P	130	ENSP00000354812:T130P	ENSP00000354812:T130P	T	-	1	0	C9orf114	130628710	0.984000	0.35163	0.974000	0.42286	0.885000	0.51271	2.148000	0.42235	0.924000	0.37069	0.529000	0.55759	ACA		0.592	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	NM_016390		5	21	0	0	0	1	0	5	21				
ARHGAP35	2909	broad.mit.edu	37	19	47422168	47422168	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:47422168T>G	ENST00000404338.3	+	1	236	c.236T>G	c.(235-237)gTt>gGt	p.V79G		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	79					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TGGGGAGAAGTTAGCCGCTCC	0.493																																						ENST00000404338.3																			0											c.(235-237)gTt>gGt		Rho GTPase activating protein 35							100.0	102.0	101.0					19																	47422168		1959	4136	6095	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422168T>G	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.236T>G	19.37:g.47422168T>G	ENSP00000385720:p.Val79Gly						p.V79G	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	236	+			79					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.236T>G	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597703	0.46318	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.09723	2.95	5.93	5.93	0.95920	.	0.313123	0.34386	N	0.004014	T	0.27419	0.0673	M	0.78801	2.425	0.80722	D	1	D	0.54964	0.969	P	0.55824	0.785	T	0.01697	-1.1293	10	0.87932	D	0	-30.8137	11.3696	0.49692	0.0:0.0:0.1515:0.8485	.	79	Q9NRY4-2	.	G	79	ENSP00000385720:V79G	ENSP00000324820:V79G	V	+	2	0	ARHGAP35	52114008	0.999000	0.42202	0.987000	0.45799	0.980000	0.70556	3.276000	0.51646	2.270000	0.75569	0.460000	0.39030	GTT		0.493	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		6	49	0	0	0	1	0	6	49				
LTBP1	4052	broad.mit.edu	37	2	33477781	33477781	+	Silent	SNP	T	T	C			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:33477781T>C	ENST00000404816.2	+	11	2390	c.2037T>C	c.(2035-2037)tgT>tgC	p.C679C	LTBP1_ENST00000418533.2_Silent_p.C353C|LTBP1_ENST00000407925.1_Silent_p.C353C|LTBP1_ENST00000402934.1_Silent_p.C353C|LTBP1_ENST00000404525.1_Silent_p.C353C|LTBP1_ENST00000354476.3_Silent_p.C679C|LTBP1_ENST00000390003.4_Silent_p.C353C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	679	TB 2.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGGCCCTGTTACCGACTTG	0.512																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(2035-2037)tgT>tgC		latent transforming growth factor beta binding protein 1							161.0	156.0	158.0					2																	33477781		2203	4300	6503	SO:0001819	synonymous_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33477781T>C		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2037T>C	2.37:g.33477781T>C						LTBP1_ENST00000407925.1_Silent_p.C353C|LTBP1_ENST00000390003.4_Silent_p.C353C|LTBP1_ENST00000418533.2_Silent_p.C353C|LTBP1_ENST00000354476.3_Silent_p.C679C|LTBP1_ENST00000404525.1_Silent_p.C353C|LTBP1_ENST00000402934.1_Silent_p.C353C	p.C679C			Q14766	LTBP1_HUMAN			11	2390	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	679			TB 2.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.2037T>C	CCDS33177.2																																																																																				0.512	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		4	107	0	0	0	1	0	4	107				
D2HGDH	728294	broad.mit.edu	37	2	242684241	242684241	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:242684241G>A	ENST00000321264.4	+	6	1011	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	D2HGDH_ENST00000403782.1_Missense_Mutation_p.V134M|D2HGDH_ENST00000537090.1_Missense_Mutation_p.V268M|D2HGDH_ENST00000342518.6_Missense_Mutation_p.V268M	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	268	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CATCACCACGGTGTCCATCTT	0.597																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(802-804)Gtg>Atg		D-2-hydroxyglutarate dehydrogenase							222.0	171.0	189.0					2																	242684241		2203	4299	6502	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242684241G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.802G>A	2.37:g.242684241G>A	ENSP00000315351:p.Val268Met					D2HGDH_ENST00000537090.1_Missense_Mutation_p.V268M|D2HGDH_ENST00000403782.1_Missense_Mutation_p.V134M|D2HGDH_ENST00000342518.6_Missense_Mutation_p.V268M	p.V268M	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	6	1011	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	268			FAD-binding PCMH-type.		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.802G>A	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.08|17.08	3.298958|3.298958	0.60195|0.60195	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000417686|ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518	.|D;D;D;D	.|0.96491	.|-4.03;-4.03;-4.03;-4.03	4.97|4.97	3.96|3.96	0.45880|0.45880	.|FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD-linked oxidase-like, C-terminal (1);	.|0.217550	.|0.38381	.|N	.|0.001705	D|D	0.98055|0.98055	0.9359|0.9359	M|M	0.92317|0.92317	3.295|3.295	0.58432|0.58432	D|D	0.999997|0.999997	.|D	.|0.59767	.|0.986	.|P	.|0.62491	.|0.903	D|D	0.98397|0.98397	1.0566|1.0566	5|10	.|0.87932	.|D	.|0	-2.4133|-2.4133	11.8972|11.8972	0.52663|0.52663	0.1206:0.0:0.8794:0.0|0.1206:0.0:0.8794:0.0	.|.	.|268	.|Q8N465	.|D2HDH_HUMAN	D|M	109|268;268;134;268	.|ENSP00000442796:V268M;ENSP00000315351:V268M;ENSP00000384723:V134M;ENSP00000339536:V268M	.|ENSP00000315351:V268M	G|V	+|+	2|1	0|0	D2HGDH|D2HGDH	242332914|242332914	1.000000|1.000000	0.71417|0.71417	0.942000|0.942000	0.38095|0.38095	0.452000|0.452000	0.32318|0.32318	5.966000|5.966000	0.70395|0.70395	2.315000|2.315000	0.78130|0.78130	0.462000|0.462000	0.41574|0.41574	GGT|GTG		0.597	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		27	24	0	0	0	1	0	27	24				
CD209	30835	broad.mit.edu	37	19	7810517	7810517	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:7810517T>A	ENST00000315599.7	-	4	657	c.635A>T	c.(634-636)cAg>cTg	p.Q212L	CD209_ENST00000593660.1_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.Q188L|CD209_ENST00000601256.1_Missense_Mutation_p.Q188L|CD209_ENST00000593821.1_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.Q188L|CD209_ENST00000301357.8_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.Q168L|CD209_ENST00000602261.1_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.Q212L	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	212	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.Q212L(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GATCTCCTGCTGCTTAGATTT	0.562																																						ENST00000315599.7																			2	Substitution - Missense(2)	p.Q212L(2)	skin(2)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(634-636)cAg>cTg		CD209 molecule							18.0	19.0	19.0					19																	7810517		1594	3344	4938	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810517T>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.635A>T	19.37:g.7810517T>A	ENSP00000315477:p.Gln212Leu					CD209_ENST00000204801.8_Missense_Mutation_p.Q168L|CD209_ENST00000593660.1_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.Q212L|CD209_ENST00000394161.5_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.Q188L|CD209_ENST00000601951.1_Missense_Mutation_p.Q188L|CD209_ENST00000394173.4_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.Q188L	p.Q212L	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	657	-			212			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.635A>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.638697	0.00799	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000540789	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	1.04	-0.1	0.13621	C-type lectin fold (1);	.	.	.	.	T	0.08582	0.0213	N	0.10972	0.075	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.001;0.0;0.004;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.08055	0.003;0.003;0.002;0.002;0.001;0.0;0.001	T	0.36939	-0.9727	9	0.22109	T	0.4	.	3.0948	0.06305	0.3869:0.0:0.0:0.6131	.	212;188;168;188;212;188;212	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-6;Q9NNX6;Q9NNX6-10;Q9NNX6-5	.;.;.;.;CD209_HUMAN;.;.	L	212;212;188;168;196	ENSP00000315477:Q212L;ENSP00000346373:Q212L;ENSP00000315407:Q188L;ENSP00000204801:Q168L	ENSP00000204801:Q168L	Q	-	2	0	CD209	7716517	0.220000	0.23631	0.004000	0.12327	0.009000	0.06853	0.764000	0.26532	-0.108000	0.12066	-0.921000	0.02739	CAG		0.562	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		4	109	0	0	0	1	0	4	109				
APBA1	320	broad.mit.edu	37	9	72131193	72131193	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr9:72131193C>T	ENST00000265381.4	-	2	1156	c.934G>A	c.(934-936)Gac>Aac	p.D312N		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	312	Munc-18-1 binding.|Pro-rich.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ccggggctgtcggggcgaccc	0.766																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(934-936)Gac>Aac		amyloid beta (A4) precursor protein-binding, family A, member 1							4.0	4.0	4.0					9																	72131193		1988	3892	5880	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131193C>T	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.934G>A	9.37:g.72131193C>T	ENSP00000265381:p.Asp312Asn						p.D312N	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	1156	-			312			Munc-18-1 binding.|Pro-rich.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.934G>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	9.806	1.181806	0.21787	.	.	ENSG00000107282	ENST00000265381	T	0.04119	3.7	5.75	3.89	0.44902	.	0.496764	0.22410	N	0.060423	T	0.02688	0.0081	N	0.08118	0	0.25514	N	0.987439	B	0.24132	0.098	B	0.15052	0.012	T	0.45220	-0.9276	10	0.27082	T	0.32	.	10.0869	0.42423	0.0:0.7911:0.1368:0.0721	.	312	Q02410	APBA1_HUMAN	N	312	ENSP00000265381:D312N	ENSP00000265381:D312N	D	-	1	0	APBA1	71321013	0.595000	0.26857	0.979000	0.43373	0.119000	0.20118	1.441000	0.35035	0.757000	0.33036	0.655000	0.94253	GAC		0.766	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		3	11	0	0	0	1	0	3	11				
SMC1A	8243	broad.mit.edu	37	X	53432803	53432803	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chrX:53432803G>A	ENST00000322213.4	-	10	1758	c.1631C>T	c.(1630-1632)gCc>gTc	p.A544V	SMC1A_ENST00000375340.6_Missense_Mutation_p.A310V	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	544	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CACAATAATGGCATCCATGTT	0.502																																						ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(1630-1632)gCc>gTc		structural maintenance of chromosomes 1A							122.0	97.0	106.0					X																	53432803		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53432803G>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1631C>T	X.37:g.53432803G>A	ENSP00000323421:p.Ala544Val					SMC1A_ENST00000375340.6_Missense_Mutation_p.A310V	p.A544V	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			10	1758	-			544			Flexible hinge.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1631C>T	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057071	0.93846	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;T	0.86366	-2.11;3.26	5.55	5.55	0.83447	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.94588	0.8256	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.986;0.993;0.997	D	0.95350	0.8446	10	0.87932	D	0	.	17.4486	0.87586	0.0:0.0:1.0:0.0	.	310;522;544	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	V	544;310	ENSP00000323421:A544V;ENSP00000364489:A310V	ENSP00000323421:A544V	A	-	2	0	SMC1A	53449528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.760000	0.98935	2.476000	0.83614	0.600000	0.82982	GCC		0.502	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		22	6	0	0	0	1	0	22	6				
PSG9	5678	broad.mit.edu	37	19	43763054	43763054	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:43763054G>A	ENST00000270077.3	-	4	1039	c.943C>T	c.(943-945)Cga>Tga	p.R315*	PSG9_ENST00000418820.2_Nonsense_Mutation_p.R222*|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Nonsense_Mutation_p.R222*|PSG9_ENST00000596730.1_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	315	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CCACCATATCGGTCCCGTATT	0.498																																						ENST00000418820.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(664-666)Cga>Tga		pregnancy specific beta-1-glycoprotein 9							114.0	117.0	116.0					19																	43763054		2138	4283	6421	SO:0001587	stop_gained	5678				female pregnancy	extracellular region		g.chr19:43763054G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.943C>T	19.37:g.43763054G>A	ENSP00000270077:p.Arg315*					PSG9_ENST00000244293.7_Intron|PSG9_ENST00000270077.3_Nonsense_Mutation_p.R315*|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000443718.3_Nonsense_Mutation_p.R222*|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Intron	p.R222*			Q00887	PSG9_HUMAN			3	762	-		Prostate(69;0.00682)	222			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Nonsense_Mutation	SNP	ENST00000270077.3	37	c.664C>T	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	10.47	1.359711	0.24598	.	.	ENSG00000183668	ENST00000270077;ENST00000443718;ENST00000435220	.	.	.	1.39	0.192	0.15134	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	4.797	0.13277	0.0:0.0:0.637:0.363	.	.	.	.	X	315;222;276	.	ENSP00000270077:R315X	R	-	1	2	PSG9	48454894	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.028000	0.13644	-0.061000	0.13110	-1.141000	0.01876	CGA		0.498	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		16	34	0	0	0	1	0	16	34				
IGHV3-20	28445	broad.mit.edu	37	14	106668030	106668030	+	RNA	SNP	C	C	T	rs536026242		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr14:106668030C>T	ENST00000390606.2	-	0	65				AB019440.50_ENST00000605005.1_lincRNA					immunoglobulin heavy variable 3-20																		AGCCCAAACTCCATGGCGAGT	0.507																																						ENST00000390606.2																			0																				126.0	116.0	119.0					14																	106668030		1861	4103	5964			0							g.chr14:106668030C>T	M99657		14q32.33	2012-02-08			ENSG00000211946	ENSG00000211946		"""Immunoglobulins / IGH locus"""	5585	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152285		14.37:g.106668030C>T														0	65	-									RNA	SNP	ENST00000390606.2	37																																																																																						0.507	IGHV3-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325673.1	NG_001019		34	130	0	0	0	1	0	34	130				
AVPR1A	552	broad.mit.edu	37	12	63543965	63543965	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr12:63543965T>C	ENST00000299178.2	-	1	757	c.652A>G	c.(652-654)Acc>Gcc	p.T218A		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	218					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GTCATCCAGGTCACGTAGGCA	0.592																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(652-654)Acc>Gcc		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						64.0	66.0	66.0					12																	63543965		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543965T>C	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.652A>G	12.37:g.63543965T>C	ENSP00000299178:p.Thr218Ala						p.T218A	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	757	-			218						Missense_Mutation	SNP	ENST00000299178.2	37	c.652A>G	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415739	0.83449	.	.	ENSG00000166148	ENST00000299178	T	0.71934	-0.61	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83547	0.5278	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84738	0.0749	9	.	.	.	-41.964	14.4082	0.67096	0.0:0.0:0.0:1.0	.	218	P37288	V1AR_HUMAN	A	218	ENSP00000299178:T218A	.	T	-	1	0	AVPR1A	61830232	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.906000	0.87423	1.995000	0.58328	0.374000	0.22700	ACC		0.592	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			56	95	0	0	0	1	0	56	95				
CEP350	9857	broad.mit.edu	37	1	179959716	179959716	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:179959716G>C	ENST00000367607.3	+	4	613	c.195G>C	c.(193-195)aaG>aaC	p.K65N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	65					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGGATACCAAGAAGTCTTCTA	0.313																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(193-195)aaG>aaC		centrosomal protein 350kDa							52.0	51.0	51.0					1																	179959716		2203	4299	6502	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179959716G>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.195G>C	1.37:g.179959716G>C	ENSP00000356579:p.Lys65Asn						p.K65N	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			4	613	+			65					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.195G>C	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945458	0.73672	.	.	ENSG00000135837	ENST00000367607;ENST00000357434	T	0.60171	0.21	5.44	4.52	0.55395	.	0.122258	0.36444	N	0.002582	T	0.64494	0.2603	L	0.32530	0.975	0.47862	D	0.999533	D;P	0.67145	0.996;0.642	D;B	0.72338	0.977;0.415	T	0.62770	-0.6784	9	.	.	.	.	14.0859	0.64957	0.0737:0.0:0.9263:0.0	.	65;65	E7EU22;Q5VT06	.;CE350_HUMAN	N	65;64	ENSP00000356579:K65N	.	K	+	3	2	CEP350	178226339	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.981000	0.76166	1.424000	0.47217	0.650000	0.86243	AAG		0.313	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		6	12	0	0	0	1	0	6	12				
TMEM45B	120224	broad.mit.edu	37	11	129725675	129725675	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr11:129725675C>T	ENST00000524567.1	+	4	739	c.458C>T	c.(457-459)gCt>gTt	p.A153V	TMEM45B_ENST00000281441.3_Missense_Mutation_p.A153V			Q96B21	TM45B_HUMAN	transmembrane protein 45B	153						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CTGCTGTATGCTCTGTTCGGA	0.537																																						ENST00000281441.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(457-459)gCt>gTt		transmembrane protein 45B							175.0	160.0	165.0					11																	129725675		2201	4297	6498	SO:0001583	missense	120224					integral to membrane		g.chr11:129725675C>T	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.458C>T	11.37:g.129725675C>T	ENSP00000436293:p.Ala153Val					TMEM45B_ENST00000524567.1_Missense_Mutation_p.A153V	p.A153V	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	4	546	+	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	153					A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	37	c.458C>T	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809372	0.31961	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.39787	1.06;1.06	5.9	0.814	0.18756	.	0.563434	0.20653	N	0.088172	T	0.36413	0.0966	L	0.58354	1.805	0.09310	N	0.999997	B	0.24920	0.114	B	0.39590	0.304	T	0.42085	-0.9472	10	0.02654	T	1	-22.3351	6.3926	0.21595	0.0:0.5947:0.1256:0.2797	.	153	Q96B21	TM45B_HUMAN	V	153	ENSP00000281441:A153V;ENSP00000436293:A153V	ENSP00000281441:A153V	A	+	2	0	TMEM45B	129230885	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	2.021000	0.41020	-0.088000	0.12506	-0.157000	0.13467	GCT		0.537	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		60	65	0	0	0	1	0	60	65				
PRMT5	10419	broad.mit.edu	37	14	23393534	23393534	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr14:23393534C>T	ENST00000324366.8	-	11	1367	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	PRMT5_ENST00000553641.1_5'Flank|PRMT5_ENST00000216350.8_Missense_Mutation_p.A321T|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.A211T|PRMT5_ENST00000397441.2_Missense_Mutation_p.A365T|PRMT5_ENST00000553897.1_Missense_Mutation_p.A338T|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.A276T	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	382	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CGCCGGTCGGCCTGCTTGGCT	0.557																																						ENST00000324366.8																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(1144-1146)Gcc>Acc		protein arginine methyltransferase 5							82.0	82.0	82.0					14																	23393534		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23393534C>T	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1144G>A	14.37:g.23393534C>T	ENSP00000319169:p.Ala382Thr					PRMT5_ENST00000397440.4_Missense_Mutation_p.A211T|PRMT5_ENST00000397441.2_Missense_Mutation_p.A365T|PRMT5_ENST00000553897.1_Missense_Mutation_p.A338T|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.A276T|PRMT5_ENST00000216350.8_Missense_Mutation_p.A321T	p.A382T	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	11	1367	-	all_cancers(95;2.76e-05)		382					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.1144G>A	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353193	0.95830	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000553502;ENST00000555530	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.35	5.35	0.76521	.	0.097389	0.64402	D	0.000001	T	0.52240	0.1722	L	0.59436	1.845	0.80722	D	1	P;P;P;D;P	0.63880	0.815;0.793;0.592;0.993;0.756	P;P;B;P;P	0.61940	0.55;0.53;0.326;0.896;0.53	T	0.31503	-0.9941	10	0.15499	T	0.54	-10.1928	18.0122	0.89227	0.0:1.0:0.0:0.0	.	338;321;211;382;365	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	T	382;365;211;321;276;338;125;277	ENSP00000319169:A382T;ENSP00000380583:A365T;ENSP00000380582:A211T;ENSP00000216350:A321T;ENSP00000444915:A276T;ENSP00000452555:A338T	ENSP00000216350:A321T	A	-	1	0	PRMT5	22463374	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.617000	0.74210	2.788000	0.95919	0.555000	0.69702	GCC		0.557	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			25	82	0	0	0	1	0	25	82				
ABCA7	10347	broad.mit.edu	37	19	1049302	1049302	+	Silent	SNP	C	C	T	rs567147407		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:1049302C>T	ENST00000263094.6	+	18	2649	c.2418C>T	c.(2416-2418)ggC>ggT	p.G806G	ABCA7_ENST00000435683.2_Silent_p.G668G|ABCA7_ENST00000433129.1_Silent_p.G806G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	806					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGTCCTGGCGTCTCCGTTC	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		9323	0.001		0.0	False		,,,				2504	0.0					ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(2416-2418)ggC>ggT		ATP-binding cassette, sub-family A (ABC1), member 7							53.0	61.0	59.0					19																	1049302		2202	4298	6500	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1049302C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2418C>T	19.37:g.1049302C>T						ABCA7_ENST00000435683.2_Silent_p.G668G|ABCA7_ENST00000433129.1_Silent_p.G806G	p.G806G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2649	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	806					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.2418C>T	CCDS12055.1																																																																																				0.667	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		44	75	0	0	0	1	0	44	75				
INSL4	3641	broad.mit.edu	37	9	5231539	5231539	+	Missense_Mutation	SNP	C	C	T	rs142741438	byFrequency	TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr9:5231539C>T	ENST00000239316.4	+	1	121	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	6					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		CAGCCTGTTCCGGTCCTATCT	0.542													T|||	9	0.00179712	0.0	0.0014	5008	,	,		20513	0.0		0.001	False		,,,				2504	0.0072					ENST00000239316.4																			0				endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6						c.(16-18)Cgg>Tgg		insulin-like 4 (placenta)		T	TRP/ARG	0,4406		0,0,2203	73.0	67.0	69.0		16	2.4	0.0	9	dbSNP_134	69	13,8587	818.3+/-406.9	0,13,4287	yes	missense	INSL4	NM_002195.1	101	0,13,6490	TT,TC,CC		0.1512,0.0,0.1	benign	6/140	5231539	13,12993	2203	4300	6503	SO:0001583	missense	3641				cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	g.chr9:5231539C>T		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.16C>T	9.37:g.5231539C>T	ENSP00000239316:p.Arg6Trp						p.R6W	NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)	1	121	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	6					A8K678|Q5W127	Missense_Mutation	SNP	ENST00000239316.4	37	c.16C>T	CCDS6459.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	4.418	0.077335	0.08485	0.0	0.001512	ENSG00000120211	ENST00000239316	T	0.17370	2.28	2.41	2.41	0.29592	.	0.719769	0.10310	N	0.690041	T	0.08223	0.0205	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34229	-0.9837	10	0.44086	T	0.13	.	4.3908	0.11339	0.0:0.1689:0.0:0.8311	.	6	Q14641	INSL4_HUMAN	W	6	ENSP00000239316:R6W	ENSP00000239316:R6W	R	+	1	2	INSL4	5221539	0.002000	0.14202	0.000000	0.03702	0.093000	0.18481	1.105000	0.31086	0.351000	0.24027	-1.140000	0.01884	CGG		0.542	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2	NM_002195		9	25	0	0	0	1	0	9	25				
CENPL	91687	broad.mit.edu	37	1	173776588	173776588	+	Silent	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:173776588G>A	ENST00000345664.6	-	3	450	c.237C>T	c.(235-237)ccC>ccT	p.P79P	CENPL_ENST00000367710.3_Silent_p.P79P|CENPL_ENST00000356198.2_Silent_p.P79P|Y_RNA_ENST00000516548.1_RNA	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	79					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						ATTTATATAAGGGAGTTAAAC	0.333																																						ENST00000356198.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						c.(235-237)ccC>ccT		centromere protein L							40.0	45.0	43.0					1																	173776588		2202	4297	6499	SO:0001819	synonymous_variant	91687				mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus		g.chr1:173776588G>A	BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"""chromosome 1 open reading frame 155"""	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.237C>T	1.37:g.173776588G>A						CENPL_ENST00000345664.6_Silent_p.P79P|CENPL_ENST00000367710.3_Silent_p.P79P	p.P79P	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN			4	522	-			79					Q5TEL5|Q96ND4	Silent	SNP	ENST00000345664.6	37	c.237C>T	CCDS30938.1																																																																																				0.333	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	NM_033319		11	69	0	0	0	1	0	11	69				
DOCK6	57572	broad.mit.edu	37	19	11311002	11311002	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:11311002G>A	ENST00000294618.7	-	47	6094	c.6083C>T	c.(6082-6084)cCc>cTc	p.P2028L	KANK2_ENST00000432929.2_5'Flank|KANK2_ENST00000589359.1_5'Flank|KANK2_ENST00000586659.1_5'Flank|DOCK6_ENST00000319867.7_Missense_Mutation_p.P1367L|DOCK6_ENST00000586702.1_5'UTR	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	2028					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGGTGGGGTGGGTGCCATCAG	0.652																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(6082-6084)cCc>cTc		dedicator of cytokinesis 6							11.0	14.0	13.0					19																	11311002		1945	4125	6070	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11311002G>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.6083C>T	19.37:g.11311002G>A	ENSP00000294618:p.Pro2028Leu					DOCK6_ENST00000586702.1_5'UTR|DOCK6_ENST00000319867.7_Missense_Mutation_p.P1367L	p.P2028L	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			47	6094	-			2028					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.6083C>T	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432899	0.43224	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.23552	2.68;1.9	4.83	2.56	0.30785	.	0.423844	0.23135	N	0.051521	T	0.21921	0.0528	L	0.32530	0.975	0.41153	D	0.986041	B;B;B	0.29301	0.241;0.215;0.241	B;B;B	0.35607	0.206;0.101;0.206	T	0.06734	-1.0810	10	0.66056	D	0.02	-6.1836	9.7608	0.40530	0.0:0.0:0.6239:0.3761	.	1367;2028;1367	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	L	2028;1367	ENSP00000294618:P2028L;ENSP00000321556:P1367L	ENSP00000294618:P2028L	P	-	2	0	DOCK6	11172002	0.554000	0.26522	0.013000	0.15412	0.033000	0.12548	1.866000	0.39489	0.383000	0.24910	-0.188000	0.12872	CCC		0.652	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		2	3	0	0	0	1	0	2	3				
TTN	7273	broad.mit.edu	37	2	179456193	179456193	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:179456193C>T	ENST00000591111.1	-	254	55560	c.55336G>A	c.(55336-55338)Ggt>Agt	p.G18446S	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17519S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G20087S|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G11214S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11147S|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11022S			Q8WZ42	TITIN_HUMAN	titin	18446	Ig-like 106.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACAAGACCTTCAATTAAT	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60259-60261)Ggt>Agt		titin							180.0	176.0	178.0					2																	179456193		1900	4114	6014	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456193C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55336G>A	2.37:g.179456193C>T	ENSP00000465570:p.Gly18446Ser					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17519S|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G11214S|TTN_ENST00000591111.1_Missense_Mutation_p.G18446S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11022S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11147S	p.G20087S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	60483	-			18446			Fibronectin type-III 45.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60259G>A		.	.	.	.	.	.	.	.	.	.	C	21.6	4.175568	0.78564	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	6.1	6.1	0.99115	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58148	0.2102	L	0.33624	1.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.57659	-0.7773	9	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	11022;11147;11214;18446	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	17519;11022;11214;11147;11020	ENSP00000343764:G17519S;ENSP00000434586:G11022S;ENSP00000340554:G11214S;ENSP00000352154:G11147S	ENSP00000340554:G11214S	G	-	1	0	TTN	179164439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.902000	0.99343	0.650000	0.86243	GGT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		69	107	0	0	0	1	0	69	107				
ANKAR	150709	broad.mit.edu	37	2	190554618	190554618	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:190554618A>T	ENST00000520309.1	+	3	1055	c.967A>T	c.(967-969)Att>Ttt	p.I323F	ANKAR_ENST00000431575.2_Missense_Mutation_p.I252F|ANKAR_ENST00000281412.6_Missense_Mutation_p.I87F|ANKAR_ENST00000438402.2_Missense_Mutation_p.I323F|ANKAR_ENST00000313581.4_Missense_Mutation_p.I323F|ANKAR_ENST00000461516.1_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	323						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATGTTTTCTGATTCCATTTCT	0.284																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(967-969)Att>Ttt		ankyrin and armadillo repeat containing							40.0	48.0	46.0					2																	190554618		2100	4230	6330	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190554618A>T	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.967A>T	2.37:g.190554618A>T	ENSP00000427882:p.Ile323Phe					ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.I323F|ANKAR_ENST00000431575.2_Missense_Mutation_p.I252F|ANKAR_ENST00000438402.2_Missense_Mutation_p.I323F|ANKAR_ENST00000281412.6_Missense_Mutation_p.I87F	p.I323F	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		3	1055	+			323					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.967A>T	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	A	14.91	2.676777	0.47886	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.46451	0.89;0.89;0.87;0.9;0.96	5.97	3.63	0.41609	.	0.108633	0.42053	D	0.000772	T	0.29423	0.0733	L	0.40543	1.245	0.34513	D	0.707268	B	0.34103	0.437	B	0.26310	0.068	T	0.39542	-0.9609	10	0.72032	D	0.01	2.0467	7.9694	0.30119	0.7744:0.0:0.2256:0.0	.	323	Q7Z5J8	ANKAR_HUMAN	F	323;323;323;252;87	ENSP00000427882:I323F;ENSP00000313513:I323F;ENSP00000397243:I323F;ENSP00000393043:I252F;ENSP00000281412:I87F	ENSP00000281412:I87F	I	+	1	0	ANKAR	190262863	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	3.273000	0.51623	0.525000	0.28522	0.533000	0.62120	ATT		0.284	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		20	73	0	0	0	1	0	20	73				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	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)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			37	46	0	0	0	1	0	37	46				
ATP2A1	487	broad.mit.edu	37	16	28900194	28900194	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr16:28900194G>A	ENST00000357084.3	+	9	1282	c.1015G>A	c.(1015-1017)Gta>Ata	p.V339I	ATP2A1_ENST00000395503.4_Missense_Mutation_p.V339I|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V214I	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	339					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTTGCCCTCCGTAGAGACCCT	0.587																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1015-1017)Gta>Ata		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							207.0	178.0	188.0					16																	28900194		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28900194G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1015G>A	16.37:g.28900194G>A	ENSP00000349595:p.Val339Ile					ATP2A1_ENST00000536376.1_Missense_Mutation_p.V214I|ATP2A1_ENST00000357084.3_Missense_Mutation_p.V339I	p.V339I	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			9	1199	+			339					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.1015G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963230	0.92791	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.90069	-2.61;-2.61;-2.61	5.55	5.55	0.83447	ATPase, P-type, cytoplasmic domain N (1);ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.93452	0.7911	M	0.63169	1.94	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.994;0.993	D;P;P	0.68621	0.959;0.854;0.69	D	0.93863	0.7155	10	0.87932	D	0	.	18.2637	0.90044	0.0:0.0:1.0:0.0	.	214;339;339	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	I	339;339;376;214	ENSP00000349595:V339I;ENSP00000378879:V339I;ENSP00000443101:V214I	ENSP00000349595:V339I	V	+	1	0	ATP2A1	28807695	1.000000	0.71417	0.092000	0.20876	0.896000	0.52359	9.838000	0.99474	2.603000	0.88011	0.563000	0.77884	GTA		0.587	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		5	172	0	0	0	1	0	5	172				
KIF26B	55083	broad.mit.edu	37	1	245862232	245862232	+	Missense_Mutation	SNP	G	G	A	rs199933797		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:245862232G>A	ENST00000407071.2	+	14	6511	c.6071G>A	c.(6070-6072)cGc>cAc	p.R2024H	KIF26B_ENST00000366518.4_Missense_Mutation_p.R1643H	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R2024H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGGAACACCGCCAGCAGAGG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19181	0.0		0.001	False		,,,				2504	0.0					ENST00000366518.4																			1	Substitution - Missense(1)	p.R2024H(1)	ovary(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4927-4929)cGc>cAc		kinesin family member 26B							73.0	78.0	76.0					1																	245862232		2085	4213	6298	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245862232G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.6071G>A	1.37:g.245862232G>A	ENSP00000385545:p.Arg2024His					KIF26B_ENST00000407071.2_Missense_Mutation_p.R2024H	p.R1643H			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		11	5032	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		2024					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.4928G>A	CCDS44342.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.7	4.184039	0.78677	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.87103	-2.21;-2.2	5.82	5.82	0.92795	.	.	.	.	.	D	0.93462	0.7914	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93435	0.6789	9	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	2024	Q2KJY2	KI26B_HUMAN	H	2024;1643;1640	ENSP00000385545:R2024H;ENSP00000355475:R1643H	ENSP00000355475:R1643H	R	+	2	0	KIF26B	243928855	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	8.033000	0.88852	2.752000	0.94435	0.655000	0.94253	CGC		0.572	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		18	31	0	0	0	1	0	18	31				
ZNF131	7690	broad.mit.edu	37	5	43161369	43161369	+	Silent	SNP	T	T	C			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr5:43161369T>C	ENST00000399534.1	+	5	434	c.390T>C	c.(388-390)gcT>gcC	p.A130A	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Silent_p.A130A|ZNF131_ENST00000505606.2_Silent_p.A130A|ZNF131_ENST00000509634.1_Silent_p.A130A|ZNF131_ENST00000509156.1_Silent_p.A130A			P52739	ZN131_HUMAN	zinc finger protein 131	130					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAAACTCAGCTCCCTTAGAGG	0.358																																						ENST00000509634.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(388-390)gcT>gcC		zinc finger protein 131							70.0	65.0	67.0					5																	43161369		1804	4068	5872	SO:0001819	synonymous_variant	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43161369T>C	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.390T>C	5.37:g.43161369T>C						ZNF131_ENST00000505606.2_Silent_p.A130A|ZNF131_ENST00000399534.1_Silent_p.A130A|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Silent_p.A130A|ZNF131_ENST00000306938.4_Silent_p.A130A	p.A130A			P52739	ZN131_HUMAN			4	846	+			130					B4DRL3|Q6PIF0	Silent	SNP	ENST00000399534.1	37	c.390T>C																																																																																					0.358	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		30	39	0	0	0	1	0	30	39				
LRRC37A3	374819	broad.mit.edu	37	17	62892257	62892257	+	Silent	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr17:62892257G>A	ENST00000584306.1	-	3	1649	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V	RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000319651.5_Silent_p.V373V|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000400877.3_Intron	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	373						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAGAAGATTCGACCTCCCTAG	0.522																																						ENST00000584306.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1117-1119)gtC>gtT		leucine rich repeat containing 37, member A3							25.0	31.0	29.0					17																	62892257		1985	4094	6079	SO:0001819	synonymous_variant	374819					integral to membrane		g.chr17:62892257G>A	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1119C>T	17.37:g.62892257G>A						RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000319651.5_Silent_p.V373V|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000339474.5_Intron	p.V373V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			3	1649	-			373					Q49A01|Q49A80|Q8NB33	Silent	SNP	ENST00000584306.1	37	c.1119C>T	CCDS32708.1																																																																																				0.522	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		8	262	0	0	0	1	0	8	262				
TRPV5	56302	broad.mit.edu	37	7	142626594	142626594	+	Missense_Mutation	SNP	C	C	T	rs373410726		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr7:142626594C>T	ENST00000265310.1	-	4	764	c.416G>A	c.(415-417)cGc>cAc	p.R139H	TRPV5_ENST00000442623.1_Missense_Mutation_p.R139H	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	139					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACTGGCCCTGCGGGTGAGCAG	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20182	0.0		0.0	False		,,,				2504	0.0					ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(415-417)cGc>cAc		transient receptor potential cation channel, subfamily V, member 5							87.0	78.0	81.0					7																	142626594		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142626594C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.416G>A	7.37:g.142626594C>T	ENSP00000265310:p.Arg139His					TRPV5_ENST00000442623.1_Missense_Mutation_p.R139H	p.R139H	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			4	764	-	Melanoma(164;0.059)		139					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.416G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	7.177	0.588840	0.13812	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.63096	-0.02;0.02;-0.02	4.85	-4.78	0.03209	Ankyrin repeat-containing domain (4);	0.503874	0.20069	N	0.099906	T	0.33294	0.0858	N	0.05280	-0.08	0.09310	N	0.999994	B;B	0.20459	0.045;0.004	B;B	0.13407	0.009;0.004	T	0.19647	-1.0299	10	0.15499	T	0.54	-1.7741	14.8491	0.70284	0.0:0.7343:0.0:0.2657	.	139;139	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	H	139;133;139	ENSP00000265310:R139H;ENSP00000406361:R133H;ENSP00000406572:R139H	ENSP00000265310:R139H	R	-	2	0	TRPV5	142336716	0.002000	0.14202	0.001000	0.08648	0.160000	0.22226	0.032000	0.13732	-0.743000	0.04784	-1.340000	0.01251	CGC		0.602	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		4	68	0	0	0	1	0	4	68				
C10orf54	64115	broad.mit.edu	37	10	73521533	73521533	+	Silent	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr10:73521533G>A	ENST00000394957.3	-	2	391	c.333C>T	c.(331-333)caC>caT	p.H111H	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	111	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GAGCCAGGTCGTGGCTGGTGT	0.652																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(331-333)caC>caT		chromosome 10 open reading frame 54							68.0	73.0	71.0					10																	73521533		2203	4300	6503	SO:0001819	synonymous_variant	64115					integral to membrane	receptor activity	g.chr10:73521533G>A	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.333C>T	10.37:g.73521533G>A						CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	p.H111H	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN			2	391	-			111			Ig-like.		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Silent	SNP	ENST00000394957.3	37	c.333C>T	CCDS31218.1																																																																																				0.652	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		24	21	0	0	0	1	0	24	21				
ASTN1	460	broad.mit.edu	37	1	176853605	176853605	+	Silent	SNP	G	G	A	rs144434019		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:176853605G>A	ENST00000367654.3	-	19	3331	c.3120C>T	c.(3118-3120)caC>caT	p.H1040H	ASTN1_ENST00000367657.3_Silent_p.H1032H|ASTN1_ENST00000424564.2_Silent_p.H1032H|ASTN1_ENST00000361833.2_Silent_p.H1032H	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1040	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGCTGGGCTCGTGAACCGTGG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19171	0.0		0.0	False		,,,				2504	0.0					ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3118-3120)caC>caT		astrotactin 1		G	,	1,4405	2.1+/-5.4	0,1,2202	109.0	101.0	103.0		3096,3096	-11.6	0.0	1	dbSNP_134	103	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ASTN1	NM_004319.1,NM_207108.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1032/1295,1032/1217	176853605	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176853605G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3120C>T	1.37:g.176853605G>A						ASTN1_ENST00000424564.2_Silent_p.H1032H|ASTN1_ENST00000367657.3_Silent_p.H1032H|ASTN1_ENST00000361833.2_Silent_p.H1032H	p.H1040H			O14525	ASTN1_HUMAN			19	3133	-			1040			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.3120C>T																																																																																					0.522	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		3	70	0	0	0	1	0	3	70				
NEK10	152110	broad.mit.edu	37	3	27204221	27204221	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr3:27204221G>A	ENST00000429845.2	-	31	3202	c.2840C>T	c.(2839-2841)aCt>aTt	p.T947I	NEK10_ENST00000383770.3_Missense_Mutation_p.T259I|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000357467.2_Missense_Mutation_p.T344I|NEK10_ENST00000383771.4_Missense_Mutation_p.T259I|NEK10_ENST00000295720.6_Missense_Mutation_p.T259I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	947					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTTCCTCCAGTGAAGTCCCT	0.353																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2839-2841)aCt>aTt		NIMA-related kinase 10							93.0	93.0	93.0					3																	27204221		2203	4300	6503	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27204221G>A	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2840C>T	3.37:g.27204221G>A	ENSP00000395849:p.Thr947Ile					NEK10_ENST00000357467.2_Missense_Mutation_p.T344I|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383770.3_Missense_Mutation_p.T259I|NEK10_ENST00000295720.6_Missense_Mutation_p.T259I|NEK10_ENST00000383771.4_Missense_Mutation_p.T259I	p.T947I			Q6ZWH5	NEK10_HUMAN			31	3202	-			947					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.2840C>T		.	.	.	.	.	.	.	.	.	.	G	6.233	0.411106	0.11812	.	.	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000383770;ENST00000357467	T;T;T;T	0.72282	2.9;2.92;3.08;-0.64	5.59	4.61	0.57282	.	.	.	.	.	T	0.56108	0.1963	.	.	.	0.24646	N	0.993548	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.09377	0.004;0.004;0.001	T	0.44937	-0.9295	8	0.34782	T	0.22	.	7.0303	0.24962	0.2353:0.0:0.7647:0.0	.	259;259;344	Q6ZWH5-5;Q6ZWH5-7;Q8N774	.;.;.	I	259;259;259;344	ENSP00000295720:T259I;ENSP00000373281:T259I;ENSP00000373280:T259I;ENSP00000350059:T344I	ENSP00000295720:T259I	T	-	2	0	NEK10	27179225	0.306000	0.24490	0.861000	0.33841	0.115000	0.19883	0.686000	0.25392	1.158000	0.42547	0.655000	0.94253	ACT		0.353	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		10	43	0	0	0	1	0	10	43				
DNASE2	1777	broad.mit.edu	37	19	12991928	12991928	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:12991928C>G	ENST00000222219.3	-	2	217	c.125G>C	c.(124-126)gGg>gCg	p.G42A	DNASE2_ENST00000538460.1_Missense_Mutation_p.G42A|CTD-2265O21.7_ENST00000592400.1_RNA	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	42					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CGCCGCCTCCCCGGACCCTCT	0.637																																						ENST00000222219.3																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						c.(124-126)gGg>gCg		deoxyribonuclease II, lysosomal							39.0	43.0	41.0					19																	12991928		2203	4299	6502	SO:0001583	missense	1777				apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding	g.chr19:12991928C>G	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.125G>C	19.37:g.12991928C>G	ENSP00000222219:p.Gly42Ala					DNASE2_ENST00000538460.1_Missense_Mutation_p.G42A|CTD-2265O21.7_ENST00000592400.1_RNA	p.G42A	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN			2	217	-			42					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.125G>C	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749001	0.49257	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	T;T	0.13420	2.59;2.59	4.39	2.1	0.27182	.	0.860710	0.10406	N	0.678543	T	0.24547	0.0595	M	0.77406	2.37	0.09310	N	1	P;B	0.51449	0.945;0.425	P;B	0.52672	0.706;0.215	T	0.16541	-1.0399	10	0.18710	T	0.47	.	6.6725	0.23076	0.0:0.6602:0.0:0.3398	.	42;42	B7Z4K6;O00115	.;DNS2A_HUMAN	A	42	ENSP00000222219:G42A;ENSP00000445988:G42A	ENSP00000222219:G42A	G	-	2	0	DNASE2	12852928	0.000000	0.05858	0.255000	0.24374	0.042000	0.13812	0.291000	0.18994	0.478000	0.27488	-0.367000	0.07326	GGG		0.637	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			7	60	0	0	0	1	0	7	60				
ATP1B4	23439	broad.mit.edu	37	X	119496054	119496054	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chrX:119496054C>T	ENST00000218008.3	+	1	88	c.31C>T	c.(31-33)Cca>Tca	p.P11S	ATP1B4_ENST00000361319.3_Missense_Mutation_p.P11S|ATP1B4_ENST00000539306.1_Missense_Mutation_p.P11S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	11					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CAGAAGGGCTCCATCCTTTCC	0.542																																						ENST00000218008.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(31-33)Cca>Tca		ATPase, Na+/K+ transporting, beta 4 polypeptide							187.0	154.0	165.0					X																	119496054		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119496054C>T	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.31C>T	X.37:g.119496054C>T	ENSP00000218008:p.Pro11Ser					ATP1B4_ENST00000539306.1_Missense_Mutation_p.P11S|ATP1B4_ENST00000361319.3_Missense_Mutation_p.P11S	p.P11S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			1	88	+			11					Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.31C>T	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415460	0.42817	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.25414	1.95;1.95;1.8	5.62	4.74	0.60224	.	0.416542	0.20141	N	0.098370	T	0.15435	0.0372	N	0.14661	0.345	0.27897	N	0.939139	B;B;B;B	0.25609	0.079;0.023;0.079;0.13	B;B;B;B	0.22880	0.019;0.013;0.019;0.042	T	0.10428	-1.0630	10	0.87932	D	0	-3.6661	9.8691	0.41164	0.0:0.7265:0.2735:0.0	.	11;11;11;11	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	S	11	ENSP00000218008:P11S;ENSP00000355346:P11S;ENSP00000443334:P11S	ENSP00000218008:P11S	P	+	1	0	ATP1B4	119380082	0.754000	0.28360	0.983000	0.44433	0.895000	0.52256	1.398000	0.34554	2.370000	0.80446	0.526000	0.51066	CCA		0.542	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		5	111	0	0	0	1	0	5	111				
FUBP1	8880	broad.mit.edu	37	1	78430654	78430654	+	Splice_Site	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:78430654C>T	ENST00000370768.2	-	9	718		c.e9-1		FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370767.1_Splice_Site	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CAGCCCGTTCCTGTTACAATC	0.368			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.e9-1		far upstream element (FUSE) binding protein 1							71.0	78.0	75.0					1																	78430654		2203	4300	6503	SO:0001630	splice_region_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430654C>T	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.637-1G>A	1.37:g.78430654C>T						FUBP1_ENST00000370768.2_Splice_Site|FUBP1_ENST00000436586.2_Splice_Site				Q96AE4	FUBP1_HUMAN			9	724	-								Q12828	Splice_Site	SNP	ENST00000370768.2	37		CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635661	0.87760	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2435	0.98387	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FUBP1	78203242	1.000000	0.71417	0.996000	0.52242	0.912000	0.54170	7.818000	0.86416	2.784000	0.95788	0.650000	0.86243	.		0.368	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	Intron	57	15	0	0	0	1	0	57	15				
ZCRB1	85437	broad.mit.edu	37	12	42711593	42711593	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr12:42711593T>G	ENST00000266529.3	-	4	404	c.221A>C	c.(220-222)aAa>aCa	p.K74T	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.K33T	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	74	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		GCTTACCTGTTTGTTGTTTAT	0.388																																						ENST00000266529.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8						c.(220-222)aAa>aCa		zinc finger CCHC-type and RNA binding motif 1							135.0	133.0	134.0					12																	42711593		2203	4299	6502	SO:0001583	missense	85437				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr12:42711593T>G	BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.221A>C	12.37:g.42711593T>G	ENSP00000266529:p.Lys74Thr					PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.K33T	p.K74T	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN		GBM - Glioblastoma multiforme(48;0.0689)	4	404	-	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)	74			RRM.		Q6PJX0|Q96TA6	Missense_Mutation	SNP	ENST00000266529.3	37	c.221A>C	CCDS8740.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.166736	0.57476	.	.	ENSG00000139168	ENST00000266529;ENST00000552673;ENST00000552235	T;T;T	0.18016	2.24;2.24;2.24	5.93	5.93	0.95920	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.12263	0.0298	N	0.20304	0.555	0.80722	D	1	B	0.25105	0.118	B	0.23716	0.048	T	0.16837	-1.0389	10	0.14252	T	0.57	-27.1139	16.0558	0.80805	0.0:0.0:0.0:1.0	.	74	Q8TBF4	ZCRB1_HUMAN	T	74;33;33	ENSP00000266529:K74T;ENSP00000446732:K33T;ENSP00000448780:K33T	ENSP00000266529:K74T	K	-	2	0	ZCRB1	40997860	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.376000	0.79658	2.281000	0.76405	0.533000	0.62120	AAA		0.388	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403813.1	NM_033114		4	73	0	0	0	1	0	4	73				
CYP11A1	1583	broad.mit.edu	37	15	74630911	74630911	+	Splice_Site	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr15:74630911C>T	ENST00000268053.6	-	8	1589		c.e8+1		CYP11A1_ENST00000358632.4_Splice_Site|CYP11A1_ENST00000419019.2_Splice_Site	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	GCTTGACTCACATTGATGAGG	0.572																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.e8+1		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						122.0	105.0	111.0					15																	74630911		2198	4297	6495	SO:0001630	splice_region_variant	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74630911C>T	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1434+1G>A	15.37:g.74630911C>T						CYP11A1_ENST00000268053.6_Splice_Site|CYP11A1_ENST00000419019.2_Splice_Site		NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN			8	1656	-								A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Splice_Site	SNP	ENST00000268053.6	37		CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974777	0.34848	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1856	0.89791	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYP11A1	72417964	1.000000	0.71417	0.975000	0.42487	0.063000	0.16089	7.164000	0.77533	2.389000	0.81357	0.542000	0.68232	.		0.572	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1		Intron	25	31	0	0	0	1	0	25	31				
SLC38A1	81539	broad.mit.edu	37	12	46602870	46602870	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr12:46602870T>C	ENST00000398637.5	-	6	1049	c.355A>G	c.(355-357)Ata>Gta	p.I119V	SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000549049.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000552197.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000546893.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000439706.1_Missense_Mutation_p.I119V	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	119					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AGGAGGTTTATTGAATATATA	0.313																																						ENST00000398637.5																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(355-357)Ata>Gta		solute carrier family 38, member 1							64.0	57.0	59.0					12																	46602870		1797	4074	5871	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46602870T>C	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.355A>G	12.37:g.46602870T>C	ENSP00000381634:p.Ile119Val					SLC38A1_ENST00000546893.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000439706.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000549049.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000552197.1_Missense_Mutation_p.I119V	p.I119V	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		6	1049	-	Lung SC(27;0.137)|Renal(347;0.236)		119					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.355A>G	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114361	0.37339	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.02649	0.0080	N	0.13299	0.325	0.43118	D	0.994837	B;B;B	0.33379	0.41;0.383;0.392	B;B;B	0.40982	0.326;0.259;0.345	T	0.68307	-0.5443	10	0.19147	T	0.46	-29.533	16.2826	0.82703	0.0:0.0:0.0:1.0	.	119;119;119	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	V	119	ENSP00000449607:I119V;ENSP00000398142:I119V;ENSP00000381634:I119V;ENSP00000447853:I119V;ENSP00000449756:I119V	ENSP00000381634:I119V	I	-	1	0	SLC38A1	44889137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.113000	0.71553	2.307000	0.77673	0.528000	0.53228	ATA		0.313	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			11	62	0	0	0	1	0	11	62				
LTK	4058	broad.mit.edu	37	15	41801323	41801323	+	Silent	SNP	G	G	A	rs542040990		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr15:41801323G>A	ENST00000263800.6	-	8	1098	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	LTK_ENST00000561619.1_Silent_p.G16G|LTK_ENST00000453182.2_Silent_p.G273G|LTK_ENST00000355166.5_Silent_p.G273G	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	334					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CTGAAGCGTCGCCCCCTGGAA	0.557										TSP Lung(18;0.14)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18744	0.0		0.0	False		,,,				2504	0.001					ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.(1000-1002)ggC>ggT		leukocyte receptor tyrosine kinase							68.0	66.0	67.0					15																	41801323		2203	4300	6503	SO:0001819	synonymous_variant	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41801323G>A	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1002C>T	15.37:g.41801323G>A		TSP Lung(18;0.14)				LTK_ENST00000453182.2_Silent_p.G273G|LTK_ENST00000355166.5_Silent_p.G273G|LTK_ENST00000561619.1_Silent_p.G16G	p.G334G	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	8	1098	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	334					A6NNJ8|B4DL89|E9PFX4	Silent	SNP	ENST00000263800.6	37	c.1002C>T	CCDS10077.1																																																																																				0.557	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			8	27	0	0	0	1	0	8	27				
CLSPN	63967	broad.mit.edu	37	1	36230093	36230093	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:36230093A>G	ENST00000318121.3	-	3	413	c.356T>C	c.(355-357)tTg>tCg	p.L119S	CLSPN_ENST00000251195.5_Missense_Mutation_p.L119S|CLSPN_ENST00000373220.3_Missense_Mutation_p.L119S|CLSPN_ENST00000520551.1_Missense_Mutation_p.L119S	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	119					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCCTGATACAAAGACTTTTC	0.363																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(355-357)tTg>tCg		claspin							94.0	94.0	94.0					1																	36230093		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36230093A>G	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.356T>C	1.37:g.36230093A>G	ENSP00000312995:p.Leu119Ser					CLSPN_ENST00000520551.1_Missense_Mutation_p.L119S|CLSPN_ENST00000373220.3_Missense_Mutation_p.L119S|CLSPN_ENST00000318121.3_Missense_Mutation_p.L119S	p.L119S			Q9HAW4	CLSPN_HUMAN			3	452	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	119					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.356T>C	CCDS396.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.816555	0.32145	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.28454	1.68;1.69;1.61;1.64	6.03	-0.184	0.13280	.	0.579397	0.16442	N	0.214253	T	0.19167	0.0460	L	0.31926	0.97	0.09310	N	1	B;B	0.21688	0.003;0.059	B;B	0.21546	0.004;0.035	T	0.16217	-1.0410	10	0.39692	T	0.17	0.8398	5.7855	0.18331	0.5295:0.0:0.3499:0.1207	.	119;119	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	S	119	ENSP00000251195:L119S;ENSP00000312995:L119S;ENSP00000362317:L119S;ENSP00000428848:L119S	ENSP00000251195:L119S	L	-	2	0	CLSPN	36002680	0.000000	0.05858	0.946000	0.38457	0.955000	0.61496	0.411000	0.21115	-0.023000	0.13963	0.533000	0.62120	TTG		0.363	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		19	28	0	0	0	1	0	19	28				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		5	114	0	0	0	1	0	5	114				
ARL6IP6	151188	broad.mit.edu	37	2	153575515	153575515	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:153575515C>G	ENST00000326446.5	+	1	1088	c.377C>G	c.(376-378)gCc>gGc	p.A126G	PRPF40A_ENST00000410080.1_5'Flank|PRPF40A_ENST00000486100.1_5'Flank	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	126						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						TTCCTCCTCGCCATCGCCTAC	0.602																																						ENST00000326446.5																			0				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						c.(376-378)gCc>gGc		ADP-ribosylation-like factor 6 interacting protein 6							79.0	78.0	78.0					2																	153575515		2190	4278	6468	SO:0001583	missense	151188					integral to membrane		g.chr2:153575515C>G	AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.377C>G	2.37:g.153575515C>G	ENSP00000315357:p.Ala126Gly						p.A126G	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN			1	1088	+			126					B2RDS6|Q7Z4G7	Missense_Mutation	SNP	ENST00000326446.5	37	c.377C>G	CCDS2197.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019419	0.54576	.	.	ENSG00000177917	ENST00000326446	.	.	.	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	T	0.77538	0.4145	M	0.69823	2.125	0.52501	D	0.999959	D	0.76494	0.999	D	0.83275	0.996	T	0.80291	-0.1444	9	0.87932	D	0	-12.4301	14.6852	0.69044	0.0:1.0:0.0:0.0	.	126	Q8N6S5	AR6P6_HUMAN	G	126	.	ENSP00000315357:A126G	A	+	2	0	ARL6IP6	153283761	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	3.740000	0.55082	2.449000	0.82847	0.655000	0.94253	GCC		0.602	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3	NM_152522		7	91	0	0	0	1	0	7	91				
APOBEC3B	9582	broad.mit.edu	37	22	39382395	39382395	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr22:39382395C>T	ENST00000333467.3	+	4	592	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R183C|APOBEC3B_ENST00000402182.3_Missense_Mutation_p.R183C	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	183					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					ATTCCTGCACCGCACGCTAAA	0.498																																						ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(547-549)Cgc>Tgc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							212.0	184.0	193.0					22																	39382395		2198	4281	6479	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39382395C>T	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.547C>T	22.37:g.39382395C>T	ENSP00000327459:p.Arg183Cys					APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R183C|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R183C	p.R183C			Q9UH17	ABC3B_HUMAN			4	602	+	Melanoma(58;0.04)		183					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.547C>T	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	4.372	0.068569	0.08436	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.66280	-0.2;-0.2;-0.2	2.16	-4.32	0.03688	.	.	.	.	.	T	0.50684	0.1630	M	0.66297	2.02	0.09310	N	1	B;B	0.14012	0.009;0.0	B;B	0.08055	0.003;0.003	T	0.30149	-0.9988	9	0.49607	T	0.09	.	2.1173	0.03717	0.5578:0.1689:0.144:0.1293	.	183;183	B0QYD2;Q9UH17	.;ABC3B_HUMAN	C	183	ENSP00000385068:R183C;ENSP00000385060:R183C;ENSP00000327459:R183C	ENSP00000327459:R183C	R	+	1	0	APOBEC3B	37712341	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.366000	0.02585	-2.641000	0.00429	0.205000	0.17691	CGC		0.498	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		23	119	0	0	0	1	0	23	119				
TCHHL1	126637	broad.mit.edu	37	1	152059508	152059508	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:152059508delT	ENST00000368806.1	-	3	714	c.650delA	c.(649-651)aagfs	p.K217fs		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	217							calcium ion binding (GO:0005509)	p.K217M(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACTGCTGGTCTTTTTTGATCC	0.448																																						ENST00000368806.1																			1	Substitution - Missense(1)	p.K217M(1)	ovary(1)	breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(649-651)agfs		trichohyalin-like 1							137.0	122.0	127.0					1																	152059508		2203	4300	6503	SO:0001589	frameshift_variant	126637						calcium ion binding	g.chr1:152059508delT		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.650delA	1.37:g.152059508delT	ENSP00000357796:p.Lys217fs						p.K217fs	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	714	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		217					B2RPK8|Q5VTJ9	Frame_Shift_Del	DEL	ENST00000368806.1	37	c.650delA	CCDS30857.1																																																																																				0.448	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		20	33						20	33	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs530695040|rs72269802|rs5862765		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(163-168)gggcgg>ggGGCgcgg		POU class 4 homeobox 2																																				SO:0001652	inframe_insertion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560457_147560458insGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.196_198dupGGC	4.37:g.147560464_147560466dupGGC	ENSP00000281321:p.Gly68dup					AC093887.1_ENST00000584185.1_RNA	p.55_56GR>GAR	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	413_414	+	all_hematologic(180;0.151)		55			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Ins	INS	ENST00000281321.3	37	c.165_166insGGC	CCDS34074.1																																																																																				0.762	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		2	4						2	4	---	---	---	---
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(31-33)del		triggering receptor expressed on myeloid cells-like 2				143,4121		8,127,1997						4.0	1.0			26	249,8005		8,233,3886	no	coding	TREML2	NM_024807.2		16,360,5883	A1A1,A1R,RR		3.0167,3.3537,3.1315				392,12126				SO:0001651	inframe_deletion	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41168714_41168716delCAG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.31_33delCTG	6.37:g.41168723_41168725delCAG	ENSP00000418767:p.Leu11del						p.L11del	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			1	216_218	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		11					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	In_Frame_Del	DEL	ENST00000483722.1	37	c.31_33delCTG	CCDS4853.2																																																																																				0.631	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		7	36						7	36	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118387360	118387360	+	RNA	DEL	G	G	-			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr10:118387360delG	ENST00000298771.7	+	0	577				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GCAGGAGGCTGGGGGGCCGCG	0.736																																						ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2							5.0	5.0	5.0					10																	118387360		1813	3937	5750			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118387360delG	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118387360delG						PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	578	+								A8K627|Q6IB55	RNA	DEL	ENST00000298771.7	37																																																																																						0.736	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		2	4						2	4	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102745470	102745473	+	RNA	DEL	CAAA	CAAA	-	rs28360358	byFrequency	TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr11:102745470_102745473delCAAA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TACGTAAaagcaaacaaacaaaca	0.324														1218	0.243211	0.416	0.1542	5008	,	,		22019	0.1567		0.2157	False		,,,				2504	0.1902					ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102745470_102745473delCAAA	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102745478_102745481delCAAA										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	199	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	DEL	ENST00000532855.1	37																																																																																						0.324	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		3	3						3	3	---	---	---	---
KRT16P6	353194	broad.mit.edu	37	17	16723088	16723092	+	RNA	DEL	TTTTG	TTTTG	-	rs368861496		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr17:16723088_16723092delTTTTG	ENST00000417510.1	-	0	871																											ttttttttttttttgacagggtcta	0.493																																						ENST00000417510.1																			0																																																			0							g.chr17:16723088_16723092delTTTTG																													17.37:g.16723088_16723092delTTTTG														0	871	-									RNA	DEL	ENST00000417510.1	37																																																																																						0.493	AC022596.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131123.1			2	4						2	4	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42794819	42794820	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:42794819_42794820insC	ENST00000575354.2	+	10	1939_1940	c.1899_1900insC	c.(1900-1902)cccfs	p.P634fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.P1543fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P634fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	634	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)				CACTGGTGCTGCCCCCAAACAA	0.688			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				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						c.(4624-4629)ctccccfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794819_42794820insC	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.1904dupC	19.37:g.42794824_42794824dupC	ENSP00000458663:p.Pro634fs					CIC_ENST00000575354.2_Frame_Shift_Ins_p.LP633fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.LP633fs	p.LP1542fs			Q96RK0	CIC_HUMAN			11	4694_4695	+		Prostate(69;0.00682)	633			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.4626_4627insC	CCDS12601.1																																																																																				0.688	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			10	31						10	31	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42796882	42796883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:42796882_42796883insC	ENST00000575354.2	+	14	3380_3381	c.3340_3341insC	c.(3340-3342)gccfs	p.A1114fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.A2022fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.A1113fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1114	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1117fs*34(1)		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)				GCCATCCCAGGCCCCCCCAAGC	0.683			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Insertion - Frameshift(1)	p.S1117fs*34(1)	large_intestine(1)	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						c.(6064-6066)cccfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796882_42796883insC	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.3347dupC	19.37:g.42796889_42796889dupC	ENSP00000458663:p.Ala1114fs					CIC_ENST00000575354.2_Frame_Shift_Ins_p.P1114fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P1113fs	p.P2022fs			Q96RK0	CIC_HUMAN			15	6132_6133	+		Prostate(69;0.00682)	1114					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.6064_6065insC	CCDS12601.1																																																																																				0.683	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			10	43						10	43	---	---	---	---
