#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
MT-CO1	4512	broad.mit.edu	37	M	2953	2953	+	5'Flank	SNP	T	T	C			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chrM:2953T>C	ENST00000361624.2	+	0	0				MT-ND1_ENST00000361390.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND2_ENST00000361453.3_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GCGCAATCCTATTCTAGAGTC	0.428																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2953T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.2953T>C	Exception_encountered							NR_039705.1						0	1283	+								Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.428	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		26	221	0	0	0	1	0	26	221				
USP31	57478	broad.mit.edu	37	16	23080559	23080559	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr16:23080559C>T	ENST00000219689.7	-	16	2866	c.2867G>A	c.(2866-2868)cGc>cAc	p.R956H	USP31_ENST00000567975.1_Missense_Mutation_p.R249H	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTTCAATCTGCGGGTGTCCGA	0.552																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(2866-2868)cGc>cAc		ubiquitin specific peptidase 31							87.0	90.0	89.0					16																	23080559		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080559C>T	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2867G>A	16.37:g.23080559C>T	ENSP00000219689:p.Arg956His					USP31_ENST00000567975.1_Missense_Mutation_p.R249H	p.R956H	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	2866	-			956			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.2867G>A	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	6.421	0.445806	0.12164	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.09630	2.96	6.06	0.813	0.18749	.	1.580620	0.04676	N	0.411560	T	0.11067	0.0270	L	0.36672	1.1	0.09310	N	1	B;B;B	0.18013	0.025;0.002;0.009	B;B;B	0.11329	0.004;0.001;0.006	T	0.39396	-0.9616	10	0.46703	T	0.11	0.0171	9.7226	0.40313	0.0:0.6051:0.0:0.3949	.	259;956;249	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	H	956;259	ENSP00000219689:R956H	ENSP00000219689:R956H	R	-	2	0	USP31	22988060	0.086000	0.21541	0.001000	0.08648	0.397000	0.30659	1.312000	0.33574	0.167000	0.19631	-0.143000	0.13931	CGC		0.552	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		12	113	0	0	0	1	0	12	113				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	135	0	0	0	1	0	7	135				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L384L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	51	0	0	0	1	0	4	51				
LAMA2	3908	broad.mit.edu	37	6	129823889	129823889	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:129823889C>T	ENST00000421865.2	+	59	8379	c.8330C>T	c.(8329-8331)gCa>gTa	p.A2777V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2777	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTGCAATTGCATTTGATGAC	0.408																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(8329-8331)gCa>gTa		laminin, alpha 2							96.0	90.0	92.0					6																	129823889		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129823889C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8330C>T	6.37:g.129823889C>T	ENSP00000400365:p.Ala2777Val						p.A2777V	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	59	8379	+			2777			Laminin G-like 4.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.8330C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445118	0.63178	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.69561	-0.41	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.151028	0.64402	D	0.000017	T	0.53850	0.1822	L	0.59436	1.845	0.58432	D	0.999997	B;B	0.17268	0.021;0.021	B;B	0.06405	0.002;0.002	T	0.49670	-0.8915	9	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	2778;2777	A6NF00;P24043	.;LAMA2_HUMAN	V	2777;2776;2777;795	ENSP00000400365:A2777V	.	A	+	2	0	LAMA2	129865582	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.793000	0.62474	2.885000	0.99019	0.655000	0.94253	GCA		0.408	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			6	36	0	0	0	1	0	6	36				
RPL31P11	641311	broad.mit.edu	37	1	161654693	161654693	+	RNA	SNP	A	A	G	rs1256287	byFrequency	TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:161654693A>G	ENST00000426558.1	-	0	349					NR_002595.1				ribosomal protein L31 pseudogene 11																		TAACCAAAGTATAGAGCTTAT	0.398													A|||	2900	0.579073	0.379	0.6859	5008	,	,		19594	0.7242		0.6024	False		,,,				2504	0.6002					ENST00000426558.1																			0																																																			0							g.chr1:161654693A>G			1q23.3	2010-06-16			ENSG00000213075	ENSG00000213075			35849	pseudogene	pseudogene						19123937	Standard	NR_002595		Approved		uc001gbc.3		OTTHUMG00000034536		1.37:g.161654693A>G								NR_002595.1						0	349	-									RNA	SNP	ENST00000426558.1	37																																																																																						0.398	RPL31P11-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347090.2	NR_002595		3	24	0	0	0	1	0	3	24				
SLC34A1	6569	broad.mit.edu	37	5	176825109	176825109	+	Missense_Mutation	SNP	G	G	A	rs372860328		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:176825109G>A	ENST00000324417.5	+	13	1833	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	581					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCTGCCTCGCTGGATGCAC	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16739	0.0		0.0	False		,,,				2504	0.0					ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1741-1743)cGc>cAc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	67.0	66.0		1742	-9.7	0.0	5		66	0,8600		0,0,4300	no	missense	SLC34A1	NM_003052.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	581/640	176825109	1,13005	2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176825109G>A	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1742G>A	5.37:g.176825109G>A	ENSP00000321424:p.Arg581His					SLC34A1_ENST00000513614.1_3'UTR	p.R581H	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1833	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	581					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.1742G>A	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	G	2.175	-0.389012	0.04932	2.27E-4	0.0	ENSG00000131183	ENST00000324417	T	0.30714	1.52	5.34	-9.73	0.00512	.	1.184600	0.05799	N	0.611841	T	0.14442	0.0349	L	0.38175	1.15	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21008	-1.0258	10	0.15499	T	0.54	-21.7511	0.8971	0.01266	0.3999:0.1955:0.2003:0.2043	.	581	Q06495	NPT2A_HUMAN	H	581	ENSP00000321424:R581H	ENSP00000321424:R581H	R	+	2	0	SLC34A1	176757715	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-2.879000	0.00716	-2.150000	0.00796	-0.538000	0.04264	CGC		0.667	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		13	53	0	0	0	1	0	13	53				
CLIC2	1193	broad.mit.edu	37	X	154508571	154508571	+	Nonsense_Mutation	SNP	A	A	C			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chrX:154508571A>C	ENST00000369449.2	-	5	667	c.449T>G	c.(448-450)tTa>tGa	p.L150*	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	150	C-terminal.|GST C-terminal.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGGGTGTTTAAGTAGTCATC	0.408																																					Melanoma(108;581 1592 2289 21669 28822)	ENST00000369449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18						c.(448-450)tTa>tGa		chloride intracellular channel 2							76.0	72.0	73.0					X																	154508571		2203	4300	6503	SO:0001587	stop_gained	1193				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	g.chrX:154508571A>C	AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"""Ion channels / Chloride channels : Intracellular"""	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.449T>G	X.37:g.154508571A>C	ENSP00000358460:p.Leu150*					CLIC2_ENST00000465553.1_5'UTR	p.L150*	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN			5	667	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		150			C-terminal.|GST C-terminal.		A8K9S0|O15174|Q5JT80|Q8TCE3	Nonsense_Mutation	SNP	ENST00000369449.2	37	c.449T>G	CCDS14767.1	.	.	.	.	.	.	.	.	.	.	a	23.6	4.435549	0.83885	.	.	ENSG00000155962	ENST00000369449;ENST00000321926	.	.	.	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0976	11.2289	0.48901	1.0:0.0:0.0:0.0	.	.	.	.	X	150;108	.	ENSP00000318558:L108X	L	-	2	0	CLIC2	154161765	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.400000	0.90200	1.618000	0.50286	0.235000	0.17854	TTA		0.408	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289		16	14	0	0	0	1	0	16	14				
USP30	84749	broad.mit.edu	37	12	109519737	109519737	+	Splice_Site	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr12:109519737G>A	ENST00000257548.5	+	9	873		c.e9-1		USP30_ENST00000392784.2_Splice_Site	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30						mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TCATGCTGTAGGGTCACCCAT	0.428																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.e9-1		ubiquitin specific peptidase 30							208.0	183.0	191.0					12																	109519737		2203	4300	6503	SO:0001630	splice_region_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109519737G>A	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.781-1G>A	12.37:g.109519737G>A						USP30_ENST00000392784.2_Splice_Site		NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			9	873	+								Q8WTU7|Q96JX4|Q9BSS3	Splice_Site	SNP	ENST00000257548.5	37		CCDS9123.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141753	0.77775	.	.	ENSG00000135093	ENST00000392784;ENST00000257548	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.329	0.90262	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP30	108004120	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	8.844000	0.92147	2.640000	0.89533	0.455000	0.32223	.		0.428	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663	Intron	25	109	0	0	0	1	0	25	109				
CYP1A2	1544	broad.mit.edu	37	15	75042314	75042314	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr15:75042314C>T	ENST00000343932.4	+	2	298	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	79				R -> S (in Ref. 2; AAA35738). {ECO:0000305}.	alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CCTGCAGATCCGCATTGGCTC	0.672																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(235-237)Cgc>Tgc		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						56.0	50.0	52.0					15																	75042314		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042314C>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.235C>T	15.37:g.75042314C>T	ENSP00000342007:p.Arg79Cys						p.R79C	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			2	298	+			79	R -> S (in Ref. 2; AAA35738).				Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.235C>T	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530221	0.85706	.	.	ENSG00000140505	ENST00000343932	T	0.80393	-1.37	4.98	4.98	0.66077	.	0.174050	0.51477	D	0.000083	D	0.91640	0.7358	H	0.94620	3.56	0.54753	D	0.999985	D	0.76494	0.999	D	0.64687	0.928	D	0.93655	0.6976	10	0.87932	D	0	.	14.9063	0.70721	0.1434:0.8566:0.0:0.0	.	79	P05177-2	.	C	79	ENSP00000342007:R79C	ENSP00000342007:R79C	R	+	1	0	CYP1A2	72829367	0.999000	0.42202	1.000000	0.80357	0.934000	0.57294	3.045000	0.49838	2.580000	0.87095	0.561000	0.74099	CGC		0.672	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		12	32	0	0	0	1	0	12	32				
GRIA1	2890	broad.mit.edu	37	5	153175109	153175109	+	Intron	SNP	T	T	C			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:153175109T>C	ENST00000285900.5	+	14	2728				GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000448073.4_Missense_Mutation_p.Y792H|GRIA1_ENST00000340592.5_Missense_Mutation_p.Y782H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CAAATGGTGGTACGATAAAGG	0.473																																						ENST00000340592.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2344-2346)Tac>Cac		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						205.0	177.0	186.0					5																	153175109		692	1591	2283	SO:0001627	intron_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153175109T>C		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2385+814T>C	5.37:g.153175109T>C						GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000448073.4_Missense_Mutation_p.Y792H|GRIA1_ENST00000285900.5_Intron	p.Y782H	NM_001114183.1|NM_001258020.1	NP_001107655.1|NP_001244949.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		14	2417	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	782					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2344T>C	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661499	0.67700	.	.	ENSG00000155511	ENST00000544403;ENST00000340592;ENST00000448073	T;T	0.38401	1.14;1.14	5.57	5.57	0.84162	.	.	.	.	.	T	0.56426	0.1984	L	0.58583	1.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.56456	-0.7976	9	0.49607	T	0.09	.	14.9036	0.70699	0.0:0.0:0.0:1.0	.	792;782	B7Z9G9;P42261-2	.;.	H	782;782;792	ENSP00000339343:Y782H;ENSP00000415569:Y792H	ENSP00000339343:Y782H	Y	+	1	0	GRIA1	153155302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.796000	0.85898	2.112000	0.64535	0.460000	0.39030	TAC		0.473	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			8	34	0	0	0	1	0	8	34				
CFH	3075	broad.mit.edu	37	1	196648911	196648911	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:196648911C>T	ENST00000359637.2	+	5	648	c.586C>T	c.(586-588)Cct>Tct	p.P196S	CFH_ENST00000367429.4_Missense_Mutation_p.P260S|CFH_ENST00000439155.2_Missense_Mutation_p.P260S			P08603	CFAH_HUMAN	complement factor H	260	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GCGTCCGTTGCCTTCATGTGA	0.294																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(778-780)Cct>Tct		complement factor H							95.0	86.0	89.0					1																	196648911		2203	4298	6501	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196648911C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.586C>T	1.37:g.196648911C>T	ENSP00000352658:p.Pro196Ser					CFH_ENST00000439155.2_Missense_Mutation_p.P260S|CFH_ENST00000359637.2_Missense_Mutation_p.P196S	p.P260S	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			6	1018	+			260			Sushi 4.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.778C>T		.	.	.	.	.	.	.	.	.	.	C	16.58	3.162201	0.57368	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.76968	-1.06;-1.06;-1.06	5.85	4.87	0.63330	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.90452	0.7010	M	0.93328	3.405	0.09310	N	1	D;P;D;P	0.89917	0.999;0.945;1.0;0.739	D;P;D;B	0.81914	0.995;0.765;0.98;0.369	T	0.83229	-0.0064	9	0.72032	D	0.01	.	12.9463	0.58373	0.1722:0.8278:0.0:0.0	.	196;260;260;260	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	S	260;260;260;196	ENSP00000356399:P260S;ENSP00000402656:P260S;ENSP00000352658:P196S	ENSP00000352658:P196S	P	+	1	0	CFH	194915534	0.176000	0.23096	0.187000	0.23214	0.298000	0.27526	1.903000	0.39858	2.771000	0.95319	0.561000	0.74099	CCT		0.294	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		5	28	0	0	0	1	0	5	28				
ZBED9	114821	broad.mit.edu	37	6	28540669	28540669	+	Silent	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:28540669G>A	ENST00000452236.2	-	4	3614	c.2997C>T	c.(2995-2997)tgC>tgT	p.C999C		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gatgaatgaagcaatgtgttg	0.328																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(2995-2997)tgC>tgT		SCAN domain containing 3							88.0	90.0	89.0					6																	28540669		2202	4300	6502	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28540669G>A																												ENST00000452236.2:c.2997C>T	6.37:g.28540669G>A							p.C999C	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	3614	-			999						Silent	SNP	ENST00000452236.2	37	c.2997C>T	CCDS34355.1																																																																																				0.328	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			13	67	0	0	0	1	0	13	67				
ZNF443	10224	broad.mit.edu	37	19	12541141	12541141	+	Silent	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr19:12541141C>T	ENST00000301547.5	-	4	2042	c.1845G>A	c.(1843-1845)ccG>ccA	p.P615P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	615					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TACATTCATACGGGTTCTCTC	0.403																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1843-1845)ccG>ccA		zinc finger protein 443							62.0	67.0	65.0					19																	12541141		2197	4290	6487	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541141C>T	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1845G>A	19.37:g.12541141C>T						CTD-3105H18.16_ENST00000595562.1_Intron	p.P615P	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	2042	-			615						Silent	SNP	ENST00000301547.5	37	c.1845G>A	CCDS32918.1																																																																																				0.403	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		3	31	0	0	0	1	0	3	31				
CNST	163882	broad.mit.edu	37	1	246810446	246810446	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:246810446A>G	ENST00000366513.4	+	9	1212	c.943A>G	c.(943-945)Aaa>Gaa	p.K315E	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.K315E	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	315					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTTAGAGAGTAAAACTTGTCT	0.388											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366513.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(943-945)Aaa>Gaa		consortin, connexin sorting protein							46.0	51.0	49.0					1																	246810446		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246810446A>G	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.943A>G	1.37:g.246810446A>G	ENSP00000355470:p.Lys315Glu		OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2468	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.K315E	p.K315E	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN			9	1212	+			315					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.943A>G	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	A	1.756	-0.488029	0.04352	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.13307	2.6;2.65	5.49	1.66	0.24008	.	0.833513	0.11030	N	0.607333	T	0.03348	0.0097	N	0.00754	-1.215	0.23809	N	0.996782	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42378	-0.9455	10	0.02654	T	1	-14.5287	8.3268	0.32162	0.3226:0.0:0.6774:0.0	.	315;315	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	E	315	ENSP00000355470:K315E;ENSP00000355469:K315E	ENSP00000355469:K315E	K	+	1	0	CNST	244877069	0.982000	0.34865	0.002000	0.10522	0.827000	0.46813	0.884000	0.28214	0.081000	0.16988	0.377000	0.23210	AAA		0.388	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		14	40	0	0	0	1	0	14	40				
CAMK2D	817	broad.mit.edu	37	4	114436309	114436309	+	Silent	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr4:114436309G>A	ENST00000342666.5	-	10	734	c.735C>T	c.(733-735)gcC>gcT	p.A245A	CAMK2D_ENST00000429180.1_Silent_p.A245A|CAMK2D_ENST00000379773.2_Silent_p.A245A|CAMK2D_ENST00000454265.2_Silent_p.A245A|CAMK2D_ENST00000394526.2_Silent_p.A245A|CAMK2D_ENST00000505990.1_Silent_p.A245A|CAMK2D_ENST00000511664.1_Silent_p.A245A|CAMK2D_ENST00000508738.1_Silent_p.A245A|CAMK2D_ENST00000515496.1_Silent_p.A245A|CAMK2D_ENST00000514328.1_Silent_p.A245A|CAMK2D_ENST00000394522.3_Silent_p.A245A|CAMK2D_ENST00000394524.3_Silent_p.A245A|CAMK2D_ENST00000296402.5_Silent_p.A245A|CAMK2D_ENST00000418639.2_Silent_p.A245A			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TGAGGTCTTTGGCTTCAGGAG	0.398																																						ENST00000454265.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13						c.(733-735)gcC>gcT		calcium/calmodulin-dependent protein kinase II delta							179.0	166.0	171.0					4																	114436309		2203	4300	6503	SO:0001819	synonymous_variant	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114436309G>A	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.735C>T	4.37:g.114436309G>A						CAMK2D_ENST00000394522.3_Silent_p.A245A|CAMK2D_ENST00000511664.1_Silent_p.A245A|CAMK2D_ENST00000508738.1_Silent_p.A245A|CAMK2D_ENST00000394524.3_Silent_p.A245A|CAMK2D_ENST00000514328.1_Silent_p.A245A|CAMK2D_ENST00000296402.5_Silent_p.A245A|CAMK2D_ENST00000429180.1_Silent_p.A245A|CAMK2D_ENST00000342666.5_Silent_p.A245A|CAMK2D_ENST00000515496.1_Silent_p.A245A|CAMK2D_ENST00000379773.2_Silent_p.A245A|CAMK2D_ENST00000505990.1_Silent_p.A245A|CAMK2D_ENST00000418639.2_Silent_p.A245A|CAMK2D_ENST00000394526.2_Silent_p.A245A	p.A245A			Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	10	1593	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	245			Protein kinase.		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Silent	SNP	ENST00000342666.5	37	c.735C>T	CCDS3703.1																																																																																				0.398	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			15	64	0	0	0	1	0	15	64				
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr19:4793724C>A	ENST00000269856.3	+	1	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	620					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)	p.L620M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607																																						ENST00000269856.3																			1	Substitution - Missense(1)	p.L620M(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1858-1860)Ctg>Atg		fem-1 homolog a (C. elegans)							48.0	43.0	45.0					19																	4793724		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793724C>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1858C>A	19.37:g.4793724C>A	ENSP00000269856:p.Leu620Met					AC005523.2_ENST00000601192.1_RNA	p.L620M	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1997	+		Hepatocellular(1079;0.137)	620					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1858C>A	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794270	0.50102	.	.	ENSG00000141965	ENST00000269856	T	0.73152	-0.72	4.92	3.89	0.44902	Ankyrin repeat-containing domain (2);	0.000000	0.56097	U	0.000025	T	0.77157	0.4089	L	0.55103	1.725	0.53005	D	0.999962	D	0.71674	0.998	D	0.69654	0.965	T	0.75196	-0.3403	10	0.41790	T	0.15	-11.1696	9.4444	0.38688	0.0:0.8375:0.0:0.1625	.	620	Q9BSK4	FEM1A_HUMAN	M	620	ENSP00000269856:L620M	ENSP00000269856:L620M	L	+	1	2	FEM1A	4744724	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	2.093000	0.41710	1.061000	0.40601	0.491000	0.48974	CTG		0.607	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			4	31	1	0	1	1	1	4	31				
CCT7	10574	broad.mit.edu	37	2	73478419	73478419	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr2:73478419C>G	ENST00000258091.5	+	11	1410	c.1269C>G	c.(1267-1269)taC>taG	p.Y423*	CCT7_ENST00000539919.1_Nonsense_Mutation_p.Y379*|CCT7_ENST00000538797.1_Nonsense_Mutation_p.Y295*|CCT7_ENST00000540468.1_Nonsense_Mutation_p.Y336*|CCT7_ENST00000398422.2_Nonsense_Mutation_p.Y219*|CCT7_ENST00000537131.1_Nonsense_Mutation_p.Y323*	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	423					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGCGGGATTACTCAAGGACTA	0.517																																						ENST00000539919.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						c.(1135-1137)taC>taG		chaperonin containing TCP1, subunit 7 (eta)							118.0	122.0	120.0					2																	73478419		1949	4156	6105	SO:0001587	stop_gained	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73478419C>G	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.1269C>G	2.37:g.73478419C>G	ENSP00000258091:p.Tyr423*					CCT7_ENST00000398422.2_Nonsense_Mutation_p.Y219*|CCT7_ENST00000537131.1_Nonsense_Mutation_p.Y323*|CCT7_ENST00000258091.5_Nonsense_Mutation_p.Y423*|CCT7_ENST00000540468.1_Nonsense_Mutation_p.Y336*|CCT7_ENST00000538797.1_Nonsense_Mutation_p.Y295*	p.Y379*	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN			12	1508	+			423					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Nonsense_Mutation	SNP	ENST00000258091.5	37	c.1137C>G	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287139	0.95517	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	.	.	.	4.85	3.97	0.46021	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5106	9.8877	0.41272	0.0:0.8276:0.0:0.1724	.	.	.	.	X	336;379;423;219;323;295;381	.	ENSP00000258091:Y423X	Y	+	3	2	CCT7	73331927	0.765000	0.28485	1.000000	0.80357	0.993000	0.82548	-0.035000	0.12205	1.365000	0.46057	0.655000	0.94253	TAC		0.517	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			24	81	0	0	0	1	0	24	81				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	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			13	55	0	0	0	1	0	13	55				
TFAP2B	7021	broad.mit.edu	37	6	50807962	50807962	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:50807962C>A	ENST00000393655.3	+	6	1203	c.1034C>A	c.(1033-1035)aCa>aAa	p.T345K	TFAP2B_ENST00000263046.4_Missense_Mutation_p.T354K	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	345					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CGGCAGCACACAGACCCGAGT	0.517																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1060-1062)aCa>aAa		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							108.0	111.0	110.0					6																	50807962		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50807962C>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1034C>A	6.37:g.50807962C>A	ENSP00000377265:p.Thr345Lys					TFAP2B_ENST00000393655.3_Missense_Mutation_p.T345K	p.T354K			Q92481	AP2B_HUMAN			7	1227	+	Lung NSC(77;0.156)		345					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.1061C>A	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009428	0.75046	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.96885	-4.16;-4.16	5.67	5.67	0.87782	Transcription factor AP-2, C-terminal (1);	0.051467	0.85682	D	0.000000	D	0.93462	0.7914	L	0.55103	1.725	0.80722	D	1	P	0.34587	0.458	B	0.38056	0.264	D	0.92429	0.5952	10	0.20046	T	0.44	-13.0312	19.7769	0.96398	0.0:1.0:0.0:0.0	.	345	Q92481	AP2B_HUMAN	K	345;354	ENSP00000377265:T345K;ENSP00000263046:T354K	ENSP00000263046:T354K	T	+	2	0	TFAP2B	50915921	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.692000	0.91855	0.655000	0.94253	ACA		0.517	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		12	72	1	0	7.03913e-09	1	7.24024e-09	12	72				
DHX35	60625	broad.mit.edu	37	20	37634881	37634881	+	Silent	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr20:37634881C>T	ENST00000252011.3	+	12	1137	c.1104C>T	c.(1102-1104)taC>taT	p.Y368Y	DHX35_ENST00000373323.4_Silent_p.Y337Y|DHX35_ENST00000373325.2_Silent_p.Y368Y	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	368	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TCCGAGCCTACAATCCCAGGA	0.522																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1102-1104)taC>taT		DEAH (Asp-Glu-Ala-His) box polypeptide 35							276.0	263.0	267.0					20																	37634881		2203	4300	6503	SO:0001819	synonymous_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37634881C>T	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1104C>T	20.37:g.37634881C>T						DHX35_ENST00000373323.4_Silent_p.Y337Y|DHX35_ENST00000373325.2_Silent_p.Y368Y	p.Y368Y	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			12	1137	+		Myeloproliferative disorder(115;0.00878)	368			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	ENST00000252011.3	37	c.1104C>T	CCDS13310.1																																																																																				0.522	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		60	239	0	0	0	1	0	60	239				
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106.0	111.0	109.0					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	57	0	0	0	1	0	4	57				
ZSCAN5B	342933	broad.mit.edu	37	19	56704396	56704396	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr19:56704396C>T	ENST00000586855.2	-	2	339	c.26G>A	c.(25-27)tGg>tAg	p.W9*	ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.W9*			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	9					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCCCTGACCCCATGAGAGTGT	0.502																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(25-27)tGg>tAg		zinc finger and SCAN domain containing 5B							35.0	30.0	31.0					19																	56704396		692	1591	2283	SO:0001587	stop_gained	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704396C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.26G>A	19.37:g.56704396C>T	ENSP00000466072:p.Trp9*					ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.W9*	p.W9*			A6NJL1	ZSA5B_HUMAN			2	339	-			9						Nonsense_Mutation	SNP	ENST00000586855.2	37	c.26G>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872705	0.33069	.	.	ENSG00000197213	ENST00000358992	.	.	.	1.02	-1.4	0.08968	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.013	0.09631	0.0:0.5199:0.0:0.4801	.	.	.	.	X	9	.	ENSP00000351883:W9X	W	-	2	0	ZSCAN5B	61396208	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.400000	0.07241	-0.454000	0.07066	0.313000	0.20887	TGG		0.502	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		2	2	0	0	0	1	0	2	2				
ANKRD30A	91074	broad.mit.edu	37	10	37419199	37419199	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr10:37419199G>A	ENST00000602533.1	+	3	334	c.235G>A	c.(235-237)Gta>Ata	p.V79I	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.V79I|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V79I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	135					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V79I(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TATAAATCTCGTAGATGTGTA	0.423																																						ENST00000374660.1																			1	Substitution - Missense(1)	p.V79I(1)	endometrium(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(235-237)Gta>Ata		ankyrin repeat domain 30A							91.0	80.0	83.0					10																	37419199		1882	4125	6007	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37419199G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.235G>A	10.37:g.37419199G>A	ENSP00000473551:p.Val79Ile					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V79I|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.V79I	p.V79I			Q9BXX3	AN30A_HUMAN			3	334	+			135					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.235G>A		.	.	.	.	.	.	.	.	.	.	.	6.007	0.369765	0.11352	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.64803	-0.12;-0.12	2.0	-3.88	0.04205	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.60366	0.2263	L	0.39085	1.19	0.09310	N	1	D	0.59357	0.985	D	0.65874	0.939	T	0.54118	-0.8341	9	0.19590	T	0.45	.	6.8928	0.24238	0.5216:0.0:0.4784:0.0	.	135	Q9BXX3	AN30A_HUMAN	I	79	ENSP00000354432:V79I;ENSP00000363792:V79I	ENSP00000354432:V79I	V	+	1	0	ANKRD30A	37459205	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.448000	0.21726	-0.900000	0.03896	-0.849000	0.03036	GTA		0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		7	36	0	0	0	1	0	7	36				
RP11-640M9.2	0	broad.mit.edu	37	1	144598726	144598726	+	RNA	SNP	A	A	C			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:144598726A>C	ENST00000419820.1	+	0	654																											CATTCGGTGCACCAAGAGCAA	0.572																																						ENST00000419820.1																			0																																																			0							g.chr1:144598726A>C																													1.37:g.144598726A>C														0	654	+									RNA	SNP	ENST00000419820.1	37																																																																																						0.572	RP11-640M9.2-011	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000038365.1			3	22	0	0	0	1	0	3	22				
GOLGA6L7P	728310	broad.mit.edu	37	15	29092257	29092257	+	RNA	SNP	C	C	T	rs75388271		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr15:29092257C>T	ENST00000569815.1	-	0	258					NR_047567.1				golgin A6 family-like 7, pseudogene																		TCAGGGTTAGCGCCATGATTT	0.547																																						ENST00000569815.1																			0																																																			0							g.chr15:29092257C>T	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29092257C>T								NR_047567.1						0	258	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.547	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		4	36	0	0	0	1	0	4	36				
KLHL5	51088	broad.mit.edu	37	4	39088270	39088270	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr4:39088270C>T	ENST00000504108.1	+	5	1457	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	KLHL5_ENST00000508137.2_Missense_Mutation_p.R205C|KLHL5_ENST00000261425.3_Missense_Mutation_p.R346C|KLHL5_ENST00000261426.5_Missense_Mutation_p.R331C|KLHL5_ENST00000381930.3_Missense_Mutation_p.R392C|KLHL5_ENST00000359687.2_Missense_Mutation_p.R392C	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	392						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TACTTGGGTCCGTCATGATTT	0.388																																						ENST00000261425.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1036-1038)Cgt>Tgt		kelch-like family member 5							111.0	105.0	107.0					4																	39088270		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39088270C>T	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.1174C>T	4.37:g.39088270C>T	ENSP00000423897:p.Arg392Cys					KLHL5_ENST00000381930.3_Missense_Mutation_p.R392C|KLHL5_ENST00000261426.5_Missense_Mutation_p.R331C|KLHL5_ENST00000508137.2_Missense_Mutation_p.R205C|KLHL5_ENST00000359687.2_Missense_Mutation_p.R392C|KLHL5_ENST00000504108.1_Missense_Mutation_p.R392C	p.R346C	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN			6	1188	+			392					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.1036C>T	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744383	0.69418	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.36	5.36	0.76844	BTB/Kelch-associated (2);	0.153324	0.64402	D	0.000013	D	0.85164	0.5634	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.71414	0.894;0.973;0.954	D	0.87043	0.2142	10	0.87932	D	0	.	19.0857	0.93202	0.0:1.0:0.0:0.0	.	331;392;392	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	C	426;346;205;392;392;392;331	ENSP00000261425:R346C;ENSP00000423080:R205C;ENSP00000423897:R392C;ENSP00000352716:R392C;ENSP00000371355:R392C;ENSP00000261426:R331C	ENSP00000261425:R346C	R	+	1	0	KLHL5	38764665	0.934000	0.31675	0.998000	0.56505	0.994000	0.84299	1.986000	0.40677	2.513000	0.84729	0.484000	0.47621	CGT		0.388	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			5	42	0	0	0	1	0	5	42				
PRSS54	221191	broad.mit.edu	37	16	58324928	58324928	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr16:58324928G>T	ENST00000219301.4	-	4	592	c.198C>A	c.(196-198)caC>caA	p.H66Q	PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Missense_Mutation_p.H66Q	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	66	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGAAAGCCAGGTGTGTGTACT	0.607																																						ENST00000219301.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(196-198)caC>caA		protease, serine, 54							108.0	86.0	93.0					16																	58324928		2198	4300	6498	SO:0001583	missense	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58324928G>T	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.198C>A	16.37:g.58324928G>T	ENSP00000219301:p.His66Gln					PRSS54_ENST00000567164.1_Missense_Mutation_p.H66Q|PRSS54_ENST00000543437.1_Intron	p.H66Q	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN			4	592	-			66			Peptidase S1.		Q96LN9|Q9NT77	Missense_Mutation	SNP	ENST00000219301.4	37	c.198C>A	CCDS32463.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581657	0.65992	.	.	ENSG00000103023	ENST00000219301	T	0.61158	0.13	5.85	1.34	0.21922	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000009	T	0.71937	0.3399	M	0.84219	2.685	0.31686	N	0.642523	D	0.89917	1.0	D	0.91635	0.999	T	0.72304	-0.4333	10	0.87932	D	0	-26.6416	6.3244	0.21234	0.45:0.0:0.55:0.0	.	66	Q6PEW0	PRS54_HUMAN	Q	66	ENSP00000219301:H66Q	ENSP00000219301:H66Q	H	-	3	2	PRSS54	56882429	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	0.714000	0.25808	0.408000	0.25621	-0.137000	0.14449	CAC		0.607	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		12	59	1	0	1.02788e-11	1	1.08835e-11	12	59				
SRD5A1	6715	broad.mit.edu	37	5	6663021	6663021	+	Missense_Mutation	SNP	G	G	A	rs200332603		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:6663021G>A	ENST00000274192.5	+	4	889	c.655G>A	c.(655-657)Gcg>Acg	p.A219T	SRD5A1_ENST00000538824.1_Missense_Mutation_p.A172T|SRD5A1_ENST00000537411.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	219					androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TGTCCAAGGCGCGGCTTTTGC	0.408																																						ENST00000274192.5																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(655-657)Gcg>Acg		steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	Dutasteride(DB01126)|Finasteride(DB01216)	G	THR/ALA	0,4406		0,0,2203	129.0	122.0	124.0		655	-1.0	0.0	5		124	2,8598	2.2+/-6.3	0,2,4298	no	missense	SRD5A1	NM_001047.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	219/260	6663021	2,13004	2203	4300	6503	SO:0001583	missense	6715				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	g.chr5:6663021G>A	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.655G>A	5.37:g.6663021G>A	ENSP00000274192:p.Ala219Thr					SRD5A1_ENST00000538824.1_Missense_Mutation_p.A172T|SRD5A1_ENST00000537411.1_3'UTR	p.A219T	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN			4	889	+			219					B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Missense_Mutation	SNP	ENST00000274192.5	37	c.655G>A	CCDS3870.1	.	.	.	.	.	.	.	.	.	.	G	9.751	1.167367	0.21621	0.0	2.33E-4	ENSG00000145545	ENST00000274192;ENST00000538824	T;T	0.30182	1.54;1.54	4.66	-1.02	0.10135	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.912074	0.09367	N	0.811875	T	0.15089	0.0364	L	0.33624	1.015	0.09310	N	1	P;B	0.38280	0.625;0.265	B;B	0.30716	0.119;0.041	T	0.17410	-1.0370	10	0.22706	T	0.39	-12.9582	2.3142	0.04194	0.1658:0.1198:0.4535:0.2609	.	172;219	F5GXK9;P18405	.;S5A1_HUMAN	T	219;172	ENSP00000274192:A219T;ENSP00000440186:A172T	ENSP00000274192:A219T	A	+	1	0	SRD5A1	6716021	0.010000	0.17322	0.000000	0.03702	0.002000	0.02628	1.719000	0.38011	-0.163000	0.10946	0.655000	0.94253	GCG		0.408	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		22	69	0	0	0	1	0	22	69				
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G	rs376401117	byFrequency	TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522													.|||	3	0.000599042	0.0	0.0	5008	,	,		19711	0.002		0.0	False		,,,				2504	0.001					ENST00000449207.2																			0				lung(2)|ovary(2)|stomach(1)	5						c.(1159-1161)Atg>Ctg		PR domain containing 7		T	LEU/MET,	0,3874		0,0,1937	115.0	114.0	115.0		1159,	2.2	1.0	16		115	1,8265		0,1,4132	no	missense,intron	PRDM7	NM_001098173.1,NM_052996.2	15,	0,1,6069	GG,GT,TT		0.0121,0.0,0.0082	benign,	387/493,	90126823	1,12139	1937	4133	6070	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90126823T>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1159A>C	16.37:g.90126823T>G	ENSP00000396732:p.Met387Leu					PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	p.M387L	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1178	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	387					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.1159A>C	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	7.534	0.659380	0.14645	0.0	1.21E-4	ENSG00000126856	ENST00000449207	T	0.10960	2.82	2.22	2.22	0.28083	.	.	.	.	.	T	0.05364	0.0142	N	0.14661	0.345	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.34700	-0.9818	8	.	.	.	-8.2214	6.7211	0.23330	0.0:0.0:0.0:1.0	.	387	Q9NQW5	PRDM7_HUMAN	L	387	ENSP00000396732:M387L	.	M	-	1	0	PRDM7	88654324	0.994000	0.37717	0.991000	0.47740	0.589000	0.36550	3.111000	0.50360	0.995000	0.38917	0.392000	0.25879	ATG		0.522	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			3	80	0	0	0	1	0	3	80				
FUBP1	8880	broad.mit.edu	37	1	78429792	78429792	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:78429792A>T	ENST00000370768.2	-	12	1077	c.996T>A	c.(994-996)tgT>tgA	p.C332*	FUBP1_ENST00000370767.1_Nonsense_Mutation_p.C332*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.C353*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	332	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				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						CAGCATGTTGACATCGGTCTG	0.328			"""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.(994-996)tgT>tgA		far upstream element (FUSE) binding protein 1							231.0	224.0	226.0					1																	78429792		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78429792A>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.996T>A	1.37:g.78429792A>T	ENSP00000359804:p.Cys332*					FUBP1_ENST00000436586.2_Nonsense_Mutation_p.C353*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.C332*	p.C332*			Q96AE4	FUBP1_HUMAN			12	1083	-			332			KH 3.		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.996T>A	CCDS683.1	.	.	.	.	.	.	.	.	.	.	A	32	5.183646	0.94885	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.81	3.49	0.39957	.	0.093791	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-10.4556	9.1644	0.37043	0.7941:0.0:0.2059:0.0	.	.	.	.	X	331;332;332;331;353	.	ENSP00000294623:C331X	C	-	3	2	FUBP1	78202380	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	1.631000	0.37092	0.459000	0.27016	-0.297000	0.09499	TGT		0.328	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		21	66	0	0	0	1	0	21	66				
FOXM1	2305	broad.mit.edu	37	12	2968215	2968215	+	Silent	SNP	C	C	T	rs374998139		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr12:2968215C>T	ENST00000359843.3	-	9	1949	c.1881G>A	c.(1879-1881)acG>acA	p.T627T	Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000342628.2_Silent_p.T665T|AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000361953.3_Silent_p.T612T|ITFG2_ENST00000545509.1_Intron	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	627					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGGCTGGGGGCGTGAGCCTCC	0.592																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(1993-1995)acG>acA		forkhead box M1		C	,,	1,4405		0,1,2202	52.0	61.0	58.0		1881,1995,1836	-1.0	1.0	12		58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	FOXM1	NM_021953.3,NM_202002.2,NM_202003.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	627/764,665/802,612/749	2968215	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968215C>T	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1881G>A	12.37:g.2968215C>T						FOXM1_ENST00000361953.3_Silent_p.T612T|FOXM1_ENST00000359843.3_Silent_p.T627T|ITFG2_ENST00000545509.1_Intron	p.T665T	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		10	2108	-			627					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	c.1995G>A	CCDS8515.1																																																																																				0.592	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		18	83	0	0	0	1	0	18	83				
RNF223	401934	broad.mit.edu	37	1	1007253	1007253	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:1007253delG	ENST00000453464.2	-	2	994	c.694delC	c.(694-696)cggfs	p.R232fs		NM_001205252.1	NP_001192181.1	E7ERA6	RN223_HUMAN	ring finger protein 223	232						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)										GCCGGGGGCCGGGGGGGCAGG	0.701																																						ENST00000453464.2																			0											c.(694-696)ggfs		ring finger protein 223																																				SO:0001589	frameshift_variant	401934					integral to membrane	zinc ion binding	g.chr1:1007253delG		CCDS53257.1	1p36.33	2013-09-24			ENSG00000237330	ENSG00000237330		"""RING-type (C3HC4) zinc fingers"""	40020	protein-coding gene	gene with protein product							Standard	NM_001205252		Approved		uc021oen.1	E7ERA6	OTTHUMG00000185582	ENST00000453464.2:c.694delC	1.37:g.1007253delG	ENSP00000410533:p.Arg232fs						p.R232fs	NM_001205252.1	NP_001192181.1	E7ERA6	RN223_HUMAN			2	994	-			232					B4DKI4	Frame_Shift_Del	DEL	ENST00000453464.2	37	c.694delC	CCDS53257.1																																																																																				0.701	RNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470774.1	NM_001205252		3	6						3	6	---	---	---	---
SPRR3	6707	broad.mit.edu	37	1	152975806	152975829	+	In_Frame_Del	DEL	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	-	rs1970328|rs561001430|rs72704847|rs527966074|rs200495953	byFrequency	TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	ENST00000295367.4	+	2	352_375	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	c.(310-333)ccaggctacaccaaggtccctgaadel	p.PGYTKVPE104del	SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del|SPRR3_ENST00000331860.3_In_Frame_Del_p.PGYTKVPE104del	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	104	14 X 8 AA approximate tandem repeats.		Missing.		epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA	0.567														567	0.113219	0.1082	0.062	5008	,	,		23905	0.1528		0.1133	False		,,,				2504	0.1155					ENST00000331860.3																			1	Substitution - Missense(1)	p.Y106C(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(310-333)del		small proline-rich protein 3			,	1170,3096		431,308,1394					,	3.4	0.4		dbSNP_130	84	2304,5950		748,808,2571	no	coding,coding	SPRR3	NM_005416.2,NM_001097589.1	,	1179,1116,3965	A1A1,A1R,RR		27.9137,27.4262,27.7476	,	,		3474,9046				SO:0001651	inframe_deletion	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.310_333delCCAGGCTACACCAAGGTCCCTGAA	1.37:g.152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	ENSP00000295367:p.Pro104_Glu111del					SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del|SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del	p.PGYTKVPE104del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	460_483	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		104		Missing.	14 X 8 AA approximate tandem repeats.		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	In_Frame_Del	DEL	ENST00000295367.4	37	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	CCDS1033.1																																																																																				0.567	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		10	81						10	81	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		4	Deletion - In frame(4)	p.E109del(3)|p.G106_R108del(1)	endometrium(2)|large_intestine(1)|lung(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(325-327)del		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916938_178916940delGAA		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.325_327delGAA	3.37:g.178916941_178916943delGAA	ENSP00000263967:p.Glu110del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E110del	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	482_484	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		110					Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.325_327delGAA	CCDS43171.1																																																																																				0.340	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			9	38						9	38	---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs147271628|rs34427285|rs35266724|rs34222232	byFrequency	TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.69														955	0.190695	0.1808	0.3184	5008	,	,		11493	0.0565		0.2356	False		,,,				2504	0.2055					ENST00000298532.2																			2	Deletion - In frame(2)	p.S542delS(2)	prostate(1)|central_nervous_system(1)	biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(1624-1626)del		small nuclear RNA activating complex, polypeptide 4, 190kDa																																				SO:0001651	inframe_deletion	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139277995_139277997delGCT	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1624_1626delAGC	9.37:g.139278004_139278006delGCT	ENSP00000298532:p.Ser542del						p.S542del	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	15	1992_1994	-		Myeloproliferative disorder(178;0.0511)	542						In_Frame_Del	DEL	ENST00000298532.2	37	c.1624_1626delAGC	CCDS6998.1																																																																																				0.690	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		5	3						5	3	---	---	---	---
LINC00842	643650	broad.mit.edu	37	10	47098318	47098318	+	lincRNA	DEL	G	G	-	rs369229574	byFrequency	TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr10:47098318delG	ENST00000422732.2	-	0	1012					NR_033957.2				long intergenic non-protein coding RNA 842																		AGGAGGTCTTGGTGGACAGGA	0.592																																						ENST00000422732.2																			0																																																			0							g.chr10:47098318delG			10q11.22	2013-01-04			ENSG00000223477	ENSG00000274909		"""Long non-coding RNAs"""	44989	non-coding RNA	RNA, long non-coding							Standard	NR_033957		Approved		uc001jef.3		OTTHUMG00000018109		10.37:g.47098318delG								NR_033957.1						0	1012	-									RNA	DEL	ENST00000422732.2	37																																																																																						0.592	LINC00842-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047838.2	NR_033957		2	4						2	4	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596|rs67450550|rs397711020	byFrequency	TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58						nucleus (GO:0005634)		p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748														1722	0.34385	0.084	0.317	5008	,	,		12964	0.4345		0.4304	False		,,,				2504	0.5317					ENST00000263773.5																			3	Deletion - In frame(3)	p.T58_T59delTT(3)	prostate(1)|breast(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(172-177)del		formin binding protein 4				233,2043		62,109,967						-2.3	0.0		dbSNP_130	3	1924,3380		655,614,1383	no	coding	FNBP4	NM_015308.2		717,723,2350	A1A1,A1R,RR		36.2745,10.2373,28.4565				2157,5423				SO:0001651	inframe_deletion	23360							g.chr11:47788664_47788669delGGTGGT	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.172_177delACCACC	11.37:g.47788670_47788675delGGTGGT	ENSP00000263773:p.Thr58_Thr59del					FNBP4_ENST00000534003.1_5'UTR	p.TT58del	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			1	184_189	-			58					Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.172_177delACCACC	CCDS41644.1																																																																																				0.748	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			3	5						3	5	---	---	---	---
YBX2	51087	broad.mit.edu	37	17	7197580	7197581	+	Frame_Shift_Ins	INS	-	-	G	rs189257850	byFrequency	TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr17:7197580_7197581insG	ENST00000007699.5	-	1	302_303	c.239_240insC	c.(238-240)ccgfs	p.P80fs	YBX2_ENST00000570627.1_Intron	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	80					mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GACTCCGGGCCGGGGGGGCGGG	0.802																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(238-240)cgcfs		Y box binding protein 2																																				SO:0001589	frameshift_variant	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7197580_7197581insG	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.240dupC	17.37:g.7197587_7197587dupG	ENSP00000007699:p.Pro80fs					YBX2_ENST00000570627.1_Intron	p.R80fs	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN			1	302_303	-			80					D3DTP1|Q8N4P0	Frame_Shift_Ins	INS	ENST00000007699.5	37	c.239_240insC	CCDS11098.1																																																																																				0.802	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		2	4						2	4	---	---	---	---
