#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
ZBTB33	10009	broad.mit.edu	37	X	119388487	119388487	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chrX:119388487C>A	ENST00000326624.2	+	2	1445	c.1217C>A	c.(1216-1218)tCa>tAa	p.S406*	ZBTB33_ENST00000557385.1_Nonsense_Mutation_p.S406*	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	406					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGCGTAGGATCAAAACATCTA	0.358																																						ENST00000326624.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1216-1218)tCa>tAa		zinc finger and BTB domain containing 33							68.0	69.0	69.0					X																	119388487		2203	4300	6503	SO:0001587	stop_gained	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119388487C>A	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1217C>A	X.37:g.119388487C>A	ENSP00000314153:p.Ser406*					ZBTB33_ENST00000557385.1_Nonsense_Mutation_p.S406*	p.S406*	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN			2	1445	+			406					B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Nonsense_Mutation	SNP	ENST00000326624.2	37	c.1217C>A	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	C	36	5.937096	0.97122	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	.	.	.	5.55	4.68	0.58851	.	0.343077	0.24825	N	0.035287	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4751	12.5825	0.56397	0.0:0.9183:0.0:0.0817	.	.	.	.	X	406	.	ENSP00000314153:S406X	S	+	2	0	ZBTB33;AC002086.1	119272515	0.878000	0.30173	0.663000	0.29738	0.945000	0.59286	2.698000	0.47068	1.218000	0.43458	0.513000	0.50165	TCA		0.358	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		6	111	1	0	3.59834e-05	1	3.82046e-05	6	111				
BCL9	607	broad.mit.edu	37	1	147092748	147092748	+	Silent	SNP	G	G	A	rs202240134		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:147092748G>A	ENST00000234739.3	+	8	3527	c.2787G>A	c.(2785-2787)ccG>ccA	p.P929P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	929	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.P929P(2)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCTGCCCCGTCACCTGGAT	0.597			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		2	Substitution - coding silent(2)	p.P929P(2)	upper_aerodigestive_tract(2)	breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(2785-2787)ccG>ccA		B-cell CLL/lymphoma 9		G		1,4405	2.1+/-5.4	0,1,2202	107.0	105.0	106.0		2787	-11.1	0.5	1		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BCL9	NM_004326.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		929/1427	147092748	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092748G>A	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2787G>A	1.37:g.147092748G>A							p.P929P	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	3527	+	all_hematologic(923;0.115)		929			Pro-rich.		Q5T489	Silent	SNP	ENST00000234739.3	37	c.2787G>A	CCDS30833.1																																																																																				0.597	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		4	197	0	0	0	1	0	4	197				
CHERP	10523	broad.mit.edu	37	19	16640580	16640580	+	Silent	SNP	T	T	C	rs528619775	byFrequency	TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:16640580T>C	ENST00000198939.6	-	8	1077	c.1041A>G	c.(1039-1041)caA>caG	p.Q347Q	CHERP_ENST00000546361.2_Silent_p.Q336Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein									p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgctgttgctgctgct	0.667													T|||	23	0.00459265	0.0129	0.0043	5008	,	,		16097	0.001		0.001	False		,,,				2504	0.001					ENST00000546361.2																			2	Substitution - coding silent(2)	p.Q336Q(2)	lung(2)	endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1006-1008)caA>caG		calcium homeostasis endoplasmic reticulum protein							21.0	29.0	26.0					19																	16640580		2193	4293	6486	SO:0001819	synonymous_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640580T>C	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1041A>G	19.37:g.16640580T>C						CHERP_ENST00000198939.6_Silent_p.Q347Q|CTD-3222D19.2_ENST00000409035.1_Intron	p.Q336Q	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1159	-			336			Gln-rich.			Silent	SNP	ENST00000198939.6	37	c.1008A>G																																																																																					0.667	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		3	44	0	0	0	1	0	3	44				
MTHFD2P1	100287639	broad.mit.edu	37	3	95374357	95374357	+	RNA	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:95374357G>A	ENST00000494840.1	-	0	1504					NR_077228.1				methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1																		TGGAATATTGGTCCAAACACT	0.448																																						ENST00000494840.1																			0																																																			0							g.chr3:95374357G>A			3q11.2	2013-06-19			ENSG00000244681	ENSG00000244681			48859	pseudogene	pseudogene							Standard	NR_077228		Approved				OTTHUMG00000159027		3.37:g.95374357G>A								NR_077228.1						0	1504	-									RNA	SNP	ENST00000494840.1	37																																																																																						0.448	MTHFD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352943.1			6	148	0	0	0	1	0	6	148				
IL1B	3553	broad.mit.edu	37	2	113591112	113591112	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:113591112C>T	ENST00000263341.2	-	4	350	c.140G>A	c.(139-141)gGc>gAc	p.G47D	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	47					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	TAGCTGGATGCCGCCATCCAG	0.612																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(139-141)gGc>gAc		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						90.0	85.0	87.0					2																	113591112		2203	4300	6503	SO:0001583	missense	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113591112C>T	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.140G>A	2.37:g.113591112C>T	ENSP00000263341:p.Gly47Asp					IL1B_ENST00000491056.1_5'UTR	p.G47D	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN			4	350	-			47					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	ENST00000263341.2	37	c.140G>A	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797577	0.31777	.	.	ENSG00000125538	ENST00000263341;ENST00000418817;ENST00000432018;ENST00000416750	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.72	3.84	0.44239	Interleukin-1 propeptide (1);	0.608009	0.19187	N	0.120512	T	0.39253	0.1071	L	0.55103	1.725	0.30122	N	0.805631	P	0.44044	0.825	B	0.42625	0.393	T	0.43605	-0.9381	10	0.52906	T	0.07	-10.4574	8.9932	0.36037	0.0:0.8989:0.0:0.1011	.	47	P01584	IL1B_HUMAN	D	47	ENSP00000263341:G47D;ENSP00000407219:G47D;ENSP00000409680:G47D;ENSP00000400854:G47D	ENSP00000263341:G47D	G	-	2	0	IL1B	113307583	0.070000	0.21116	0.698000	0.30274	0.259000	0.26198	0.082000	0.14847	1.361000	0.45981	0.555000	0.69702	GGC		0.612	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		5	150	0	0	0	1	0	5	150				
KBTBD7	84078	broad.mit.edu	37	13	41768288	41768288	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr13:41768288C>T	ENST00000379483.3	-	1	414	c.106G>A	c.(106-108)Ggt>Agt	p.G36S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	36										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TCCTCTGGACCCGTGAAAAAG	0.637																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(106-108)Ggt>Agt		kelch repeat and BTB (POZ) domain containing 7							85.0	92.0	89.0					13																	41768288		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41768288C>T	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.106G>A	13.37:g.41768288C>T	ENSP00000368797:p.Gly36Ser						p.G36S	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	414	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	36					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.106G>A	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531266	0.85706	.	.	ENSG00000120696	ENST00000379483	T	0.74002	-0.8	4.99	4.99	0.66335	BTB/POZ fold (1);	0.078821	0.49305	U	0.000146	T	0.79269	0.4417	L	0.32530	0.975	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.77011	-0.2746	10	0.30078	T	0.28	.	15.7322	0.77814	0.0:1.0:0.0:0.0	.	36	Q8WVZ9	KBTB7_HUMAN	S	36	ENSP00000368797:G36S	ENSP00000368797:G36S	G	-	1	0	KBTBD7	40666288	0.996000	0.38824	1.000000	0.80357	0.982000	0.71751	4.034000	0.57289	2.295000	0.77249	0.491000	0.48974	GGT		0.637	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		5	236	0	0	0	1	0	5	236				
SCAF1	58506	broad.mit.edu	37	19	50157637	50157637	+	Silent	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:50157637C>A	ENST00000360565.3	+	8	3472	c.3348C>A	c.(3346-3348)gcC>gcA	p.A1116A		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1116					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGAAGAAGCCAACCTGGCGA	0.597																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(3346-3348)gcC>gcA		SR-related CTD-associated factor 1							30.0	29.0	29.0					19																	50157637		2202	4300	6502	SO:0001819	synonymous_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50157637C>A	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3348C>A	19.37:g.50157637C>A							p.A1116A	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	8	3472	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	1116					Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	c.3348C>A	CCDS33074.1																																																																																				0.597	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		3	51	1	0	1	1	1	3	51				
LMLN	89782	broad.mit.edu	37	3	197702982	197702982	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:197702982G>A	ENST00000330198.4	+	4	453	c.431G>A	c.(430-432)aGa>aAa	p.R144K	LMLN_ENST00000332636.5_Splice_Site_p.R92K|LMLN_ENST00000420910.2_Splice_Site_p.R144K|LMLN_ENST00000482695.1_Splice_Site_p.R92K	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	144					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTACTTAGCAGGTATGTCACA	0.373																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.e4+1		leishmanolysin-like (metallopeptidase M8 family)							57.0	55.0	56.0					3																	197702982		2203	4300	6503	SO:0001630	splice_region_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197702982G>A	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.431+1G>A	3.37:g.197702982G>A						LMLN_ENST00000482695.1_Splice_Site_p.R92_splice|LMLN_ENST00000420910.2_Splice_Site_p.R144_splice|LMLN_ENST00000332636.5_Splice_Site_p.R92_splice	p.R144_splice	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	4	453	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	144					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Splice_Site	SNP	ENST00000330198.4	37	c.431_splice	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	33	5.235898	0.95240	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000419117;ENST00000420910;ENST00000332636	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;1.0	D;D;D;D	0.85130	0.997;0.989;0.991;0.99	T	0.57412	-0.7816	10	0.39692	T	0.17	-24.7154	15.0733	0.72056	0.0:0.0:1.0:0.0	.	144;92;144;92	Q96KR4;F8WCE5;F8WB28;Q96KR4-2	LMLN_HUMAN;.;.;.	K	92;144;72;144;92	ENSP00000418324:R92K;ENSP00000328829:R144K;ENSP00000390872:R72K;ENSP00000410926:R144K;ENSP00000328611:R92K	ENSP00000328829:R144K	R	+	2	0	LMLN	199187379	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	8.305000	0.89960	2.937000	0.99478	0.650000	0.86243	AGA		0.373	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029	Missense_Mutation	3	87	0	0	0	1	0	3	87				
HAUS6	54801	broad.mit.edu	37	9	19050538	19050538	+	IGR	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:19050538G>A	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Missense_Mutation_p.R294Q	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGCAATGCCCGGAAACACTTT	0.483																																						ENST00000380527.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(880-882)cGg>cAg		Ras-related GTP binding A							109.0	105.0	106.0					9																	19050538		2203	4300	6503	SO:0001628	intergenic_variant	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19050538G>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622		9.37:g.19050538G>A							p.R294Q	NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN			1	1167	+			294					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.881G>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312914	0.81358	.	.	ENSG00000155876	ENST00000380527	T	0.71222	-0.55	4.98	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.79997	0.4543	M	0.85373	2.75	0.80722	D	1	D	0.71674	0.998	P	0.54544	0.755	T	0.81874	-0.0732	10	0.48119	T	0.1	-13.5713	11.3151	0.49388	0.088:0.0:0.912:0.0	.	294	Q7L523	RRAGA_HUMAN	Q	294	ENSP00000369899:R294Q	ENSP00000369899:R294Q	R	+	2	0	RRAGA	19040538	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.946000	0.92992	1.486000	0.48398	0.655000	0.94253	CGG		0.483	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		4	245	0	0	0	1	0	4	245				
MINPP1	9562	broad.mit.edu	37	10	89311947	89311947	+	Silent	SNP	G	G	A	rs369683786		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:89311947G>A	ENST00000371996.4	+	5	1217	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	MINPP1_ENST00000536010.1_Silent_p.A191A|MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_3'UTR	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	392					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CCCTAACAGCGTACAATTACA	0.428																																						ENST00000371996.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5						c.(1174-1176)gcG>gcA		multiple inositol-polyphosphate phosphatase 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	129.0	121.0	123.0		,573,1176	0.9	1.0	10		123	0,8600		0,0,4300	no	utr-3,coding-synonymous,coding-synonymous	MINPP1	NM_001178117.1,NM_001178118.1,NM_004897.4	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	,191/287,392/488	89311947	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity	g.chr10:89311947G>A	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.1176G>A	10.37:g.89311947G>A						MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_3'UTR|MINPP1_ENST00000536010.1_Silent_p.A191A	p.A392A	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)	5	1217	+		Colorectal(252;0.122)	392					F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Silent	SNP	ENST00000371996.4	37	c.1176G>A	CCDS7384.1																																																																																				0.428	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1			5	249	0	0	0	1	0	5	249				
HIST1H1D	3007	broad.mit.edu	37	6	26234788	26234788	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr6:26234788C>A	ENST00000244534.5	-	1	428	c.374G>T	c.(373-375)gGc>gTc	p.G125V		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	125					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTGGCTGCGCCAGCCTTTTT	0.567																																						ENST00000244534.5																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(373-375)gGc>gTc		histone cluster 1, H1d							48.0	55.0	53.0					6																	26234788		2203	4300	6503	SO:0001583	missense	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234788C>A	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.374G>T	6.37:g.26234788C>A	ENSP00000244534:p.Gly125Val						p.G125V	NM_005320.2	NP_005311.1	P16402	H13_HUMAN			1	428	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	125					B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	c.374G>T	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	5.731	0.319296	0.10845	.	.	ENSG00000124575	ENST00000244534	T	0.14144	2.53	5.23	4.31	0.51392	.	0.326851	0.32120	N	0.006554	T	0.02807	0.0084	N	0.08118	0	0.39119	D	0.961637	B	0.27823	0.19	B	0.26517	0.07	T	0.43360	-0.9396	10	0.23891	T	0.37	-17.343	12.142	0.54002	0.0:0.642:0.358:0.0	.	125	P16402	H13_HUMAN	V	125	ENSP00000244534:G125V	ENSP00000244534:G125V	G	-	2	0	HIST1H1D	26342767	0.947000	0.32204	0.375000	0.26029	0.002000	0.02628	4.539000	0.60657	2.623000	0.88846	0.655000	0.94253	GGC		0.567	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		24	148	1	0	9.95505e-16	1	1.08371e-15	24	148				
ACO1	48	broad.mit.edu	37	9	32448928	32448928	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:32448928G>A	ENST00000309951.6	+	20	2543	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	ACO1_ENST00000541043.1_Missense_Mutation_p.R703H|ACO1_ENST00000379923.1_Missense_Mutation_p.R802H	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	802					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGCTACGAGCGCATTCACCGC	0.483																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(2404-2406)cGc>cAc		aconitase 1, soluble							131.0	112.0	118.0					9																	32448928		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32448928G>A	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2405G>A	9.37:g.32448928G>A	ENSP00000309477:p.Arg802His					ACO1_ENST00000309951.5_Missense_Mutation_p.R802H|ACO1_ENST00000541043.1_Missense_Mutation_p.R703H	p.R802H	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	21	2611	+			802					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.2405G>A	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241759	0.58995	.	.	ENSG00000122729	ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.54071	0.59;0.59;1.62	5.83	4.93	0.64822	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.113796	0.64402	D	0.000010	T	0.76905	0.4053	H	0.98333	4.205	0.80722	D	1	D	0.53462	0.96	P	0.51229	0.663	D	0.85902	0.1435	10	0.87932	D	0	-3.3044	13.6001	0.62013	0.0754:0.0:0.9246:0.0	.	802	P21399	ACOC_HUMAN	H	802;802;703	ENSP00000309477:R802H;ENSP00000369255:R802H;ENSP00000438733:R703H	ENSP00000309477:R802H	R	+	2	0	ACO1	32438928	1.000000	0.71417	0.999000	0.59377	0.769000	0.43574	5.659000	0.68010	1.464000	0.47987	0.650000	0.86243	CGC		0.483	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		4	126	0	0	0	1	0	4	126				
MMP15	4324	broad.mit.edu	37	16	58077146	58077146	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr16:58077146C>G	ENST00000219271.3	+	8	2121	c.1336C>G	c.(1336-1338)Ctg>Gtg	p.L446V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	446					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	AGAAGCGAACCTGGAGCCCGG	0.632																																						ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1336-1338)Ctg>Gtg		matrix metallopeptidase 15 (membrane-inserted)							32.0	32.0	32.0					16																	58077146		2198	4298	6496	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58077146C>G	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1336C>G	16.37:g.58077146C>G	ENSP00000219271:p.Leu446Val						p.L446V	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			8	2121	+			446			Hemopexin-like 2.		A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.1336C>G	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018113	0.35606	.	.	ENSG00000102996	ENST00000219271	T	0.02158	4.42	5.32	5.32	0.75619	Hemopexin/matrixin (2);	0.070088	0.64402	D	0.000014	T	0.02888	0.0086	N	0.21373	0.66	0.58432	D	0.999999	B	0.28082	0.2	B	0.37198	0.243	T	0.60000	-0.7348	10	0.11794	T	0.64	.	17.5771	0.87953	0.0:1.0:0.0:0.0	.	446	P51511	MMP15_HUMAN	V	446	ENSP00000219271:L446V	ENSP00000219271:L446V	L	+	1	2	MMP15	56634647	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	2.143000	0.42187	2.492000	0.84095	0.655000	0.94253	CTG		0.632	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		9	19	0	0	0	1	0	9	19				
LOC101927648	101927648	broad.mit.edu	37	1	143403554	143403554	+	lincRNA	SNP	T	T	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468																																						ENST00000423249.1																			0																																																			0							g.chr1:143403554T>G																													1.37:g.143403554T>G														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.468	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			5	33	0	0	0	1	0	5	33				
EPHB1	2047	broad.mit.edu	37	3	134967317	134967317	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:134967317G>A	ENST00000398015.3	+	14	3026	c.2656G>A	c.(2656-2658)Gca>Aca	p.A886T	EPHB1_ENST00000493838.1_Missense_Mutation_p.A447T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	886					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCGGAACCCGGCAAGTCTCAA	0.552																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2656-2658)Gca>Aca		EPH receptor B1							22.0	26.0	25.0					3																	134967317		2162	4287	6449	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134967317G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2656G>A	3.37:g.134967317G>A	ENSP00000381097:p.Ala886Thr					EPHB1_ENST00000493838.1_Missense_Mutation_p.A447T	p.A886T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			14	3026	+			886					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2656G>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670655	0.67814	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.62232	0.04;0.04	5.65	5.65	0.86999	Protein kinase-like domain (1);	0.114641	0.64402	D	0.000013	T	0.62925	0.2468	M	0.64997	1.995	0.58432	D	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.56245	-0.8011	10	0.35671	T	0.21	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	886	P54762	EPHB1_HUMAN	T	886;447	ENSP00000381097:A886T;ENSP00000419574:A447T	ENSP00000381097:A886T	A	+	1	0	EPHB1	136450007	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.360000	0.59455	2.941000	0.99782	0.655000	0.94253	GCA		0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		3	53	0	0	0	1	0	3	53				
AGPS	8540	broad.mit.edu	37	2	178402897	178402897	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:178402897A>G	ENST00000264167.4	+	20	2097	c.1951A>G	c.(1951-1953)Atc>Gtc	p.I651V	AGPS_ENST00000409888.1_Missense_Mutation_p.I182V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	651					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CCCCAATAACATCTTTGGAAA	0.353																																						ENST00000264167.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(1951-1953)Atc>Gtc		alkylglycerone phosphate synthase							116.0	115.0	115.0					2																	178402897		2203	4300	6503	SO:0001583	missense	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178402897A>G	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1951A>G	2.37:g.178402897A>G	ENSP00000264167:p.Ile651Val					AGPS_ENST00000409888.1_Missense_Mutation_p.I182V	p.I651V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		20	2097	+			651					A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	c.1951A>G	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.272184	0.59649	.	.	ENSG00000018510	ENST00000264167;ENST00000409888	D;D	0.89617	-2.54;-2.54	5.95	5.95	0.96441	Vanillyl-alcohol oxidase, C-terminal subdomain 2 (1);FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.043515	0.85682	D	0.000000	D	0.88198	0.6372	L	0.41415	1.275	0.53005	D	0.99996	B	0.25235	0.121	B	0.38616	0.277	D	0.85001	0.0900	10	0.39692	T	0.17	.	16.397	0.83610	1.0:0.0:0.0:0.0	.	651	O00116	ADAS_HUMAN	V	651;182	ENSP00000264167:I651V;ENSP00000386688:I182V	ENSP00000264167:I651V	I	+	1	0	AGPS	178111143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.730000	0.91510	2.275000	0.75901	0.459000	0.35465	ATC		0.353	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			7	256	0	0	0	1	0	7	256				
MAP2	4133	broad.mit.edu	37	2	210574671	210574671	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:210574671G>A	ENST00000360351.4	+	12	5272	c.4766G>A	c.(4765-4767)gGt>gAt	p.G1589D	MAP2_ENST00000447185.1_Missense_Mutation_p.G1585D|MAP2_ENST00000361559.4_Missense_Mutation_p.G233D|MAP2_ENST00000199940.6_Missense_Mutation_p.G290D|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Missense_Mutation_p.G233D	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1589					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GGGAAGAGTGGTACCTCAACA	0.517																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(4765-4767)gGt>gAt		microtubule-associated protein 2	Estramustine(DB01196)						120.0	103.0	109.0					2																	210574671		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210574671G>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4766G>A	2.37:g.210574671G>A	ENSP00000353508:p.Gly1589Asp					MAP2_ENST00000392194.1_Missense_Mutation_p.G233D|MAP2_ENST00000447185.1_Missense_Mutation_p.G1585D|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Missense_Mutation_p.G290D|MAP2_ENST00000361559.4_Missense_Mutation_p.G233D	p.G1589D	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	5272	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1589					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.4766G>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825920	0.50739	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	T;T;T;T;T	0.25250	1.81;3.07;2.21;2.21;3.07	5.44	4.56	0.56223	.	0.000000	0.64402	D	0.000011	T	0.40862	0.1134	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.962;0.996;0.999;1.0	T	0.30909	-0.9962	10	0.54805	T	0.06	-13.4992	15.8768	0.79170	0.0:0.0:0.8633:0.1367	.	1585;233;234;1589;290	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	D	290;1589;233;233;1585	ENSP00000199940:G290D;ENSP00000353508:G1589D;ENSP00000355290:G233D;ENSP00000376032:G233D;ENSP00000392164:G1585D	ENSP00000199940:G290D	G	+	2	0	MAP2	210282916	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	9.346000	0.97056	1.397000	0.46682	-0.182000	0.12963	GGT		0.517	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		48	73	0	0	0	1	0	48	73				
NPAP1	23742	broad.mit.edu	37	15	24923368	24923368	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:24923368C>T	ENST00000329468.2	+	1	2828	c.2354C>T	c.(2353-2355)tCt>tTt	p.S785F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	785					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAGAAAACCTCTCTCCCCAGT	0.547																																						ENST00000329468.2																			0											c.(2353-2355)tCt>tTt		nuclear pore associated protein 1							116.0	132.0	126.0					15																	24923368		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923368C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2354C>T	15.37:g.24923368C>T	ENSP00000333735:p.Ser785Phe						p.S785F	NM_018958.2	NP_061831.2					1	2828	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2354C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	6.060	0.379362	0.11466	.	.	ENSG00000185823	ENST00000329468	T	0.08807	3.05	1.62	-3.24	0.05094	.	.	.	.	.	T	0.05547	0.0146	L	0.34521	1.04	0.09310	N	1	D	0.53462	0.96	B	0.41202	0.35	T	0.21484	-1.0244	9	0.72032	D	0.01	.	4.0375	0.09737	0.0:0.3387:0.4773:0.184	.	785	Q9NZP6	CO002_HUMAN	F	785	ENSP00000333735:S785F	ENSP00000333735:S785F	S	+	2	0	C15orf2	22474461	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	-0.334000	0.07883	-0.806000	0.04398	-0.714000	0.03626	TCT		0.547	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		12	340	0	0	0	1	0	12	340				
KRTAP19-2	337969	broad.mit.edu	37	21	31859629	31859629	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr21:31859629G>A	ENST00000334055.3	-	1	126	c.39C>T	c.(37-39)tgC>tgT	p.C13C		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	13						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGCCCAGTCTGCAGAAGCTGC	0.562																																						ENST00000334055.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(37-39)tgC>tgT		keratin associated protein 19-2							146.0	144.0	145.0					21																	31859629		2203	4300	6503	SO:0001819	synonymous_variant	337969					intermediate filament		g.chr21:31859629G>A	AP001708	CCDS13595.1	21q22.1	2006-03-13			ENSG00000186965	ENSG00000186965		"""Keratin associated proteins"""	18937	protein-coding gene	gene with protein product						12359730	Standard	NM_181608		Approved	KAP19.2	uc011acy.2	Q3LHN2	OTTHUMG00000057772	ENST00000334055.3:c.39C>T	21.37:g.31859629G>A							p.C13C	NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN			1	126	-			13						Silent	SNP	ENST00000334055.3	37	c.39C>T	CCDS13595.1																																																																																				0.562	KRTAP19-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128224.3			5	402	0	0	0	1	0	5	402				
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7981-7983)Cga>Tga		kalirin, RhoGEF kinase							132.0	121.0	125.0					3																	124418865		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124418865C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2890C>T	3.37:g.124418865C>T	ENSP00000291478:p.Arg964*					KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	p.R2661*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			56	8108	+			2660					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7981C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	42	9.571042	0.99208	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	.	.	.	6.17	3.15	0.36227	.	0.209202	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1047	0.65080	0.6612:0.3388:0.0:0.0	.	.	.	.	X	2661;964;932	.	ENSP00000291478:R964X	R	+	1	2	KALRN	125901555	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.467000	0.35321	0.920000	0.36970	-0.152000	0.13540	CGA		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		5	230	0	0	0	1	0	5	230				
MRC1	4360	broad.mit.edu	37	10	17949595	17949595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:17949595G>A	ENST00000331429.2	+	28	4062	c.3959G>A	c.(3958-3960)tGg>tAg	p.W1320*																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTGTCAACTGGAACACAGGA	0.393																																						ENST00000331429.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(3958-3960)tGg>tAg									60.0	61.0	61.0					10																	17949595		2177	4258	6435	SO:0001587	stop_gained	0							g.chr10:17949595G>A																												ENST00000331429.2:c.3959G>A	10.37:g.17949595G>A	ENSP00000332124:p.Trp1320*						p.W1320*							28	4062	+									Nonsense_Mutation	SNP	ENST00000331429.2	37	c.3959G>A		.	.	.	.	.	.	.	.	.	.	.	39	7.543844	0.98348	.	.	ENSG00000183748	ENST00000331429	.	.	.	4.04	4.04	0.47022	.	0.122796	0.37348	U	0.002127	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5401	16.4284	0.83832	0.0:0.0:1.0:0.0	.	.	.	.	X	1320	.	ENSP00000332124:W1320X	W	+	2	0	AL928580.1	17989601	1.000000	0.71417	0.998000	0.56505	0.172000	0.22775	7.223000	0.78033	2.086000	0.62901	0.508000	0.49915	TGG		0.393	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			53	88	0	0	0	1	0	53	88				
NCCRP1	342897	broad.mit.edu	37	19	39691074	39691074	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:39691074C>A	ENST00000339852.4	+	5	659	c.637C>A	c.(637-639)Cac>Aac	p.H213N		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	213	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGCTCAGCACCACGTGGCCCC	0.682																																					Melanoma(107;1207 1556 14956 29427 52130)	ENST00000339852.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(637-639)Cac>Aac		non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)							66.0	75.0	72.0					19																	39691074		2202	4299	6501	SO:0001583	missense	342897				protein catabolic process			g.chr19:39691074C>A	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.637C>A	19.37:g.39691074C>A	ENSP00000342137:p.His213Asn						p.H213N	NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN			5	659	+			213			FBA.		Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	c.637C>A	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	C	8.124	0.781496	0.16120	.	.	ENSG00000188505	ENST00000339852	T	0.28069	1.63	5.23	4.13	0.48395	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.287421	0.39407	N	0.001363	T	0.17152	0.0412	N	0.22421	0.69	0.33290	D	0.563342	B	0.29909	0.261	B	0.26517	0.07	T	0.15578	-1.0432	10	0.22109	T	0.4	-32.9454	8.0892	0.30790	0.1778:0.6503:0.1719:0.0	.	213	Q6ZVX7	NCRP1_HUMAN	N	213	ENSP00000342137:H213N	ENSP00000342137:H213N	H	+	1	0	NCCRP1	44382914	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	1.948000	0.40303	2.455000	0.83008	0.561000	0.74099	CAC		0.682	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		57	97	1	0	7.41606e-26	1	8.17668e-26	57	97				
DSTN	11034	broad.mit.edu	37	20	17581431	17581431	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:17581431A>C	ENST00000246069.7	+	2	398	c.52A>C	c.(52-54)Atg>Ctg	p.M18L	DSTN_ENST00000474024.1_Start_Codon_SNP_p.M1L	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	18	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						TTTTTATGACATGAAAGTTCG	0.358																																						ENST00000246069.6																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(52-54)Atg>Ctg		destrin (actin depolymerizing factor)							35.0	35.0	35.0					20																	17581431		2203	4296	6499	SO:0001583	missense	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581431A>C	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.52A>C	20.37:g.17581431A>C	ENSP00000246069:p.Met18Leu					DSTN_ENST00000543261.1_Start_Codon_SNP_p.M1L|DSTN_ENST00000474024.1_3'UTR	p.M18L	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			2	398	+			18			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Missense_Mutation	SNP	ENST00000246069.7	37	c.52A>C	CCDS13127.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006924	0.54361	.	.	ENSG00000125868	ENST00000246069;ENST00000543261	T;T	0.25250	1.81;1.81	5.65	4.51	0.55191	Actin-binding, cofilin/tropomyosin type (1);	0.033975	0.85682	D	0.000000	T	0.14743	0.0356	N	0.16266	0.395	0.80722	D	1	B	0.12630	0.006	B	0.14023	0.01	T	0.08597	-1.0714	10	0.13108	T	0.6	-21.7963	12.2325	0.54497	0.8584:0.1416:0.0:0.0	.	18	P60981	DEST_HUMAN	L	18;1	ENSP00000246069:M18L;ENSP00000444808:M1L	ENSP00000246069:M18L	M	+	1	0	DSTN	17529431	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.248000	0.95456	2.166000	0.68216	0.460000	0.39030	ATG		0.358	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		4	99	0	0	0	1	0	4	99				
ANAPC5	51433	broad.mit.edu	37	12	121775117	121775117	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:121775117A>T	ENST00000261819.3	-	6	857	c.736T>A	c.(736-738)Ttt>Att	p.F246I	ANAPC5_ENST00000441917.2_Missense_Mutation_p.F147I|ANAPC5_ENST00000536366.1_Missense_Mutation_p.F125I|ANAPC5_ENST00000544314.1_5'Flank|ANAPC5_ENST00000541887.1_Missense_Mutation_p.F246I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.F147I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	246					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCAGGATTAAATTTCAACAAA	0.358																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(736-738)Ttt>Att		anaphase promoting complex subunit 5							102.0	108.0	106.0					12																	121775117		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121775117A>T	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.736T>A	12.37:g.121775117A>T	ENSP00000261819:p.Phe246Ile					ANAPC5_ENST00000441917.2_Missense_Mutation_p.F147I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.F147I|ANAPC5_ENST00000536366.1_Missense_Mutation_p.F125I|ANAPC5_ENST00000541887.1_Missense_Mutation_p.F246I	p.F246I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			6	857	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		246					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.736T>A	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.995466	0.93167	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	L	0.44542	1.39	0.80722	D	1	D;D	0.59357	0.963;0.985	P;P	0.53006	0.63;0.715	T	0.32241	-0.9914	10	0.48119	T	0.1	.	15.9966	0.80256	1.0:0.0:0.0:0.0	.	147;246	E9PFB2;Q9UJX4	.;APC5_HUMAN	I	147;246;246;147;125;147	ENSP00000415061:F147I;ENSP00000439875:F246I;ENSP00000261819:F246I;ENSP00000343787:F147I;ENSP00000445310:F125I;ENSP00000440800:F147I	ENSP00000261819:F246I	F	-	1	0	ANAPC5	120259500	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.544000	0.90654	2.238000	0.73509	0.460000	0.39030	TTT		0.358	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			63	210	0	0	0	1	0	63	210				
SLC34A3	142680	broad.mit.edu	37	9	140130623	140130623	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:140130623G>A	ENST00000538474.1	+	13	1779	c.1555G>A	c.(1555-1557)Ggt>Agt	p.G519S	SLC34A3_ENST00000361134.2_Missense_Mutation_p.G519S	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	519					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGCTGTCGGGGGTCCCCTGGT	0.726											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1555-1557)Ggt>Agt		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							16.0	13.0	14.0					9																	140130623		2125	4203	6328	SO:0001583	missense	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140130623G>A	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1555G>A	9.37:g.140130623G>A	ENSP00000442397:p.Gly519Ser		OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1654	SLC34A3_ENST00000361134.2_Missense_Mutation_p.G519S	p.G519S	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	13	1779	+	all_cancers(76;0.0926)		519					A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	c.1555G>A	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575331	0.45902	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.30448	1.53;1.53	4.24	3.31	0.37934	.	0.106101	0.39083	N	0.001474	T	0.28962	0.0719	L	0.43152	1.355	0.35222	D	0.776123	P	0.48162	0.906	B	0.44224	0.444	T	0.44742	-0.9308	10	0.54805	T	0.06	-15.35	11.806	0.52155	0.0:0.1793:0.8207:0.0	.	519	Q8N130	NPT2C_HUMAN	S	519	ENSP00000442397:G519S;ENSP00000355353:G519S	ENSP00000355353:G519S	G	+	1	0	SLC34A3	139250444	0.002000	0.14202	0.990000	0.47175	0.070000	0.16714	0.690000	0.25451	1.104000	0.41587	0.511000	0.50034	GGT		0.726	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		3	21	0	0	0	1	0	3	21				
SSPO	23145	broad.mit.edu	37	7	149474811	149474811	+	RNA	SNP	C	C	T	rs566175911		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:149474811C>T	ENST00000378016.2	+	0	610							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTCCACTACCGCACCTTTGA	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15694	0.0		0.0	False		,,,				2504	0.0					ENST00000378016.2																			0													SCO-spondin							16.0	21.0	20.0					7																	149474811		2050	4179	6229			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149474811C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149474811C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	610	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				9	32	0	0	0	1	0	9	32				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	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			70	108	0	0	0	1	0	70	108				
ERBB4	2066	broad.mit.edu	37	2	212578296	212578296	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:212578296T>C	ENST00000342788.4	-	8	1271	c.961A>G	c.(961-963)Aaa>Gaa	p.K321E	ERBB4_ENST00000402597.1_Missense_Mutation_p.K321E|ERBB4_ENST00000436443.1_Missense_Mutation_p.K321E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	321	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TTACACATTTTAATCCCATTT	0.363										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(961-963)Aaa>Gaa		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							135.0	131.0	132.0					2																	212578296		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212578296T>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.961A>G	2.37:g.212578296T>C	ENSP00000342235:p.Lys321Glu	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.K321E|ERBB4_ENST00000402597.1_Missense_Mutation_p.K321E	p.K321E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	8	1271	-		Renal(323;0.06)|Lung NSC(271;0.197)	321			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.961A>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.884815	0.72410	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.84146	-1.81;-1.81;-1.81	5.57	5.57	0.84162	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	M	0.73962	2.25	0.80722	D	1	D;P;D;D;D	0.67145	0.995;0.799;0.995;0.995;0.996	D;B;D;D;D	0.74674	0.97;0.405;0.914;0.97;0.984	D	0.92682	0.6159	10	0.72032	D	0.01	.	15.7821	0.78269	0.0:0.0:0.0:1.0	.	321;321;180;321;321	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	E	321	ENSP00000342235:K321E;ENSP00000403204:K321E;ENSP00000385565:K321E	ENSP00000342235:K321E	K	-	1	0	ERBB4	212286541	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.037000	0.88933	2.129000	0.65627	0.529000	0.55759	AAA		0.363	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		52	58	0	0	0	1	0	52	58				
ALPI	248	broad.mit.edu	37	2	233322995	233322995	+	Missense_Mutation	SNP	G	G	A	rs151137290		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:233322995G>A	ENST00000295463.3	+	9	1137	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	354					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.D354N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGTCATGTTCGACGACGCCAT	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17253	0.0		0.0	False		,,,				2504	0.001					ENST00000295463.3																			1	Substitution - Missense(1)	p.D354N(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1060-1062)Gac>Aac		alkaline phosphatase, intestinal		G	ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	83.0	74.0	77.0		1060	3.6	0.0	2	dbSNP_134	77	0,8600		0,0,4300	no	missense	ALPI	NM_001631.3	23	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	354/529	233322995	3,13003	2203	4300	6503	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233322995G>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.1060G>A	2.37:g.233322995G>A	ENSP00000295463:p.Asp354Asn						p.D354N	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	9	1137	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	354					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.1060G>A	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278894	0.80692	6.81E-4	0.0	ENSG00000163295	ENST00000295463	D	0.98075	-4.7	4.46	3.58	0.41010	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	M	0.89030	3	0.52099	D	0.999945	D	0.89917	1.0	D	0.79784	0.993	D	0.99177	1.0866	10	0.87932	D	0	.	11.3549	0.49609	0.0877:0.0:0.9123:0.0	.	354	P09923	PPBI_HUMAN	N	354	ENSP00000295463:D354N	ENSP00000295463:D354N	D	+	1	0	ALPI	233031239	1.000000	0.71417	0.020000	0.16555	0.006000	0.05464	7.763000	0.85283	1.105000	0.41606	0.561000	0.74099	GAC		0.622	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		30	75	0	0	0	1	0	30	75				
KRT71	112802	broad.mit.edu	37	12	52946639	52946639	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:52946639G>A	ENST00000267119.5	-	1	292	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	75	Gly-rich.|Head.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCACTGGCCCGGCCCCGGCCA	0.642																																						ENST00000267119.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(223-225)Cgg>Tgg		keratin 71							69.0	76.0	74.0					12																	52946639		2203	4300	6503	SO:0001583	missense	112802						structural molecule activity	g.chr12:52946639G>A	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.223C>T	12.37:g.52946639G>A	ENSP00000267119:p.Arg75Trp						p.R75W	NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	1	292	-			75			Gly-rich.|Head.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.223C>T	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507273	0.27036	.	.	ENSG00000139648	ENST00000267119	T	0.80393	-1.37	5.1	5.1	0.69264	.	0.000000	0.41001	D	0.000972	T	0.76821	0.4041	M	0.72894	2.215	0.30248	N	0.794324	B	0.29301	0.241	B	0.23419	0.046	T	0.74578	-0.3619	10	0.38643	T	0.18	.	10.8284	0.46647	0.0:0.14:0.7152:0.1448	.	75	Q3SY84	K2C71_HUMAN	W	75	ENSP00000267119:R75W	ENSP00000267119:R75W	R	-	1	2	KRT71	51232906	0.989000	0.36119	0.996000	0.52242	0.982000	0.71751	2.286000	0.43496	2.540000	0.85666	0.561000	0.74099	CGG		0.642	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		48	165	0	0	0	1	0	48	165				
TLN2	83660	broad.mit.edu	37	15	63009793	63009793	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:63009793G>A	ENST00000561311.1	+	23	3012	c.2782G>A	c.(2782-2784)Gca>Aca	p.A928T	TLN2_ENST00000306829.6_Missense_Mutation_p.A928T			Q9Y4G6	TLN2_HUMAN	talin 2	928	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAAGCAGGCCGCAGCGGCAGC	0.557																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(2782-2784)Gca>Aca		talin 2							25.0	23.0	23.0					15																	63009793		2203	4296	6499	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63009793G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2782G>A	15.37:g.63009793G>A	ENSP00000453508:p.Ala928Thr					TLN2_ENST00000306829.6_Missense_Mutation_p.A928T	p.A928T			Q9Y4G6	TLN2_HUMAN			23	3012	+			928			Ala-rich.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.2782G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198412	0.94997	.	.	ENSG00000171914	ENST00000306829	T	0.71698	-0.59	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81634	-0.0844	10	0.49607	T	0.09	-16.1857	19.9855	0.97347	0.0:0.0:1.0:0.0	.	928	Q9Y4G6	TLN2_HUMAN	T	928	ENSP00000303476:A928T	ENSP00000303476:A928T	A	+	1	0	TLN2	60797085	1.000000	0.71417	0.993000	0.49108	0.720000	0.41350	9.751000	0.98889	2.806000	0.96561	0.655000	0.94253	GCA		0.557	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			3	18	0	0	0	1	0	3	18				
ZNF142	7701	broad.mit.edu	37	2	219507566	219507566	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:219507566T>C	ENST00000449707.1	-	8	4094	c.3673A>G	c.(3673-3675)Att>Gtt	p.I1225V	ZNF142_ENST00000411696.2_Missense_Mutation_p.I1225V	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATGCGGCCAATGCCTGTGTGT	0.577																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3673-3675)Att>Gtt		zinc finger protein 142							92.0	104.0	100.0					2																	219507566		2137	4232	6369	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507566T>C	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3673A>G	2.37:g.219507566T>C	ENSP00000408643:p.Ile1225Val					ZNF142_ENST00000449707.1_Missense_Mutation_p.I1225V	p.I1225V			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	4452	-		Renal(207;0.0474)	1225					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3673A>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	T	7.751	0.703254	0.15172	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.59906	0.23;0.23	5.44	3.59	0.41128	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.180851	0.48767	N	0.000171	T	0.32496	0.0831	N	0.11023	0.085	0.22378	N	0.999156	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14952	-1.0454	10	0.06625	T	0.88	-13.565	11.7238	0.51698	0.0:0.8572:0.0:0.1428	.	1225;1062	P52746;A8MWU9	ZN142_HUMAN;.	V	1225	ENSP00000408643:I1225V;ENSP00000398798:I1225V	ENSP00000398798:I1225V	I	-	1	0	ZNF142	219215810	0.375000	0.25089	0.916000	0.36221	0.941000	0.58515	1.047000	0.30367	0.861000	0.35504	-0.177000	0.13119	ATT		0.577	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		81	147	0	0	0	1	0	81	147				
VCP	7415	broad.mit.edu	37	9	35060873	35060873	+	Silent	SNP	T	T	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:35060873T>G	ENST00000358901.6	-	12	2302	c.1407A>C	c.(1405-1407)gtA>gtC	p.V469V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	469					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGGCACCTCTACCACGGTTT	0.562																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1405-1407)gtA>gtC		valosin containing protein							151.0	132.0	138.0					9																	35060873		2203	4300	6503	SO:0001819	synonymous_variant	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35060873T>G	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1407A>C	9.37:g.35060873T>G							p.V469V	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		12	2302	-			469					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	37	c.1407A>C	CCDS6573.1																																																																																				0.562	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		15	211	0	0	0	1	0	15	211				
PPP1R3A	5506	broad.mit.edu	37	7	113520053	113520053	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:113520053A>G	ENST00000284601.3	-	4	1162	c.1094T>C	c.(1093-1095)aTa>aCa	p.I365T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	365					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTCAGTACATATTTCACCATG	0.388																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1093-1095)aTa>aCa		protein phosphatase 1, regulatory subunit 3A							198.0	198.0	198.0					7																	113520053		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113520053A>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1094T>C	7.37:g.113520053A>G	ENSP00000284601:p.Ile365Thr						p.I365T	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1162	-			365					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1094T>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	5.598	0.295124	0.10622	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.33865	2.31;1.39	5.62	-2.27	0.06846	.	1.526350	0.03679	N	0.245197	T	0.26159	0.0638	L	0.34521	1.04	0.09310	N	1	B	0.19817	0.039	B	0.14023	0.01	T	0.17501	-1.0367	10	0.22109	T	0.4	-3.1054	7.957	0.30049	0.3805:0.1467:0.4729:0.0	.	365	Q16821	PPR3A_HUMAN	T	365;44	ENSP00000284601:I365T;ENSP00000401278:I44T	ENSP00000284601:I365T	I	-	2	0	PPP1R3A	113307289	0.010000	0.17322	0.000000	0.03702	0.114000	0.19823	0.334000	0.19787	-0.303000	0.08856	0.528000	0.53228	ATA		0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		4	334	0	0	0	1	0	4	334				
UPF1	5976	broad.mit.edu	37	19	18960909	18960909	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:18960909G>A	ENST00000599848.1	+	4	696	c.487G>A	c.(487-489)Gca>Aca	p.A163T	UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000262803.5_Missense_Mutation_p.A163T			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	163	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A163T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCTTGTGAGGGCAAAATGCAA	0.517																																						ENST00000262803.5																			1	Substitution - Missense(1)	p.A163T(1)	lung(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(487-489)Gca>Aca		UPF1 regulator of nonsense transcripts homolog (yeast)							89.0	88.0	88.0					19																	18960909		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18960909G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.487G>A	19.37:g.18960909G>A	ENSP00000470142:p.Ala163Thr					UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000599848.1_Missense_Mutation_p.A163T	p.A163T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			4	759	+			163			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.487G>A		.	.	.	.	.	.	.	.	.	.	G	29.5	5.014153	0.93404	.	.	ENSG00000005007	ENST00000262803	D	0.91237	-2.81	4.51	4.51	0.55191	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	M	0.86805	2.84	0.80722	D	1	P;P	0.41159	0.74;0.695	P;B	0.49301	0.606;0.415	D	0.95400	0.8489	10	0.87932	D	0	-16.0301	16.5553	0.84483	0.0:0.0:1.0:0.0	.	163;163	Q92900;Q92900-2	RENT1_HUMAN;.	T	163	ENSP00000262803:A163T	ENSP00000262803:A163T	A	+	1	0	UPF1	18821909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.374000	0.97172	2.221000	0.72209	0.591000	0.81541	GCA		0.517	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		4	201	0	0	0	1	0	4	201				
U2SURP	23350	broad.mit.edu	37	3	142741380	142741380	+	Silent	SNP	A	A	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:142741380A>C	ENST00000473835.2	+	11	984	c.894A>C	c.(892-894)ggA>ggC	p.G298G	U2SURP_ENST00000493598.2_Silent_p.G297G|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	298	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAAGATTTGGACCGTTAGCCA	0.353																																						ENST00000473835.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(892-894)ggA>ggC		U2 snRNP-associated SURP domain containing							114.0	111.0	112.0					3																	142741380		1810	4076	5886	SO:0001819	synonymous_variant	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142741380A>C	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.894A>C	3.37:g.142741380A>C						U2SURP_ENST00000493598.2_Silent_p.G297G|U2SURP_ENST00000397933.2_5'UTR	p.G298G	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN			11	984	+			298			RRM.		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Silent	SNP	ENST00000473835.2	37	c.894A>C	CCDS46928.1																																																																																				0.353	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		19	131	0	0	0	1	0	19	131				
ABCA13	154664	broad.mit.edu	37	7	48315024	48315024	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:48315024T>G	ENST00000435803.1	+	17	5785	c.5761T>G	c.(5761-5763)Tgg>Ggg	p.W1921G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1921					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCAGAAATTTTGGCATAAGAT	0.383																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(5761-5763)Tgg>Ggg		ATP-binding cassette, sub-family A (ABC1), member 13							122.0	124.0	123.0					7																	48315024		1828	4082	5910	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315024T>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5761T>G	7.37:g.48315024T>G	ENSP00000411096:p.Trp1921Gly						p.W1921G	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5785	+			1921					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5761T>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.491645	0.44249	.	.	ENSG00000179869	ENST00000435803	T	0.44881	0.91	5.73	3.27	0.37495	.	0.000000	0.45606	D	0.000347	T	0.37210	0.0995	M	0.66939	2.045	0.80722	D	1	B	0.26147	0.143	B	0.24701	0.055	T	0.10359	-1.0633	9	.	.	.	.	7.3825	0.26864	0.1429:0.0:0.15:0.7071	.	1921	Q86UQ4	ABCAD_HUMAN	G	1921	ENSP00000411096:W1921G	.	W	+	1	0	ABCA13	48285570	1.000000	0.71417	0.978000	0.43139	0.521000	0.34408	1.694000	0.37752	0.393000	0.25203	0.528000	0.53228	TGG		0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	297	0	0	0	1	0	4	297				
OR1A2	26189	broad.mit.edu	37	17	3101421	3101421	+	Silent	SNP	C	C	T	rs150553361	byFrequency	TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:3101421C>T	ENST00000381951.1	+	1	609	c.609C>T	c.(607-609)gtC>gtT	p.V203V		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	203					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						ACCTAGGGGTCGGCGTTTTCT	0.433													C|||	5	0.000998403	0.003	0.0014	5008	,	,		20606	0.0		0.0	False		,,,				2504	0.0					ENST00000381951.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(607-609)gtC>gtT		olfactory receptor, family 1, subfamily A, member 2		C		2,4404	4.2+/-10.8	0,2,2201	243.0	199.0	214.0		609	-6.8	0.0	17	dbSNP_134	214	0,8600		0,0,4300	no	coding-synonymous	OR1A2	NM_012352.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		203/310	3101421	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101421C>T	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.609C>T	17.37:g.3101421C>T							p.V203V	NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN			1	609	+			203					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Silent	SNP	ENST00000381951.1	37	c.609C>T	CCDS11021.1																																																																																				0.433	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		139	255	0	0	0	1	0	139	255				
EPHA8	2046	broad.mit.edu	37	1	22903061	22903061	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:22903061C>T	ENST00000166244.3	+	3	583	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	EPHA8_ENST00000374644.4_Missense_Mutation_p.R171C|EPHA8_ENST00000538803.1_Missense_Mutation_p.R171C	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	171	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.R171C(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACGGAGGTGCGCAGTGTGGG	0.582																																						ENST00000166244.3																			2	Substitution - Missense(2)	p.R171C(2)	large_intestine(2)	breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(511-513)Cgc>Tgc		EPH receptor A8							91.0	80.0	83.0					1																	22903061		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22903061C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.511C>T	1.37:g.22903061C>T	ENSP00000166244:p.Arg171Cys					EPHA8_ENST00000538803.1_Missense_Mutation_p.R171C|EPHA8_ENST00000374644.4_Missense_Mutation_p.R171C	p.R171C	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	583	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	171					Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.511C>T	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433318	0.62844	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.11063	2.81;2.81;2.81	4.07	4.07	0.47477	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.29389	0.0732	M	0.75150	2.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.01545	-1.1328	10	0.62326	D	0.03	.	9.2471	0.37532	0.3343:0.6657:0.0:0.0	.	171;171	P29322;P29322-2	EPHA8_HUMAN;.	C	171	ENSP00000166244:R171C;ENSP00000363775:R171C;ENSP00000440274:R171C	ENSP00000166244:R171C	R	+	1	0	EPHA8	22775648	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.402000	0.44521	2.097000	0.63578	0.442000	0.29010	CGC		0.582	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		4	48	0	0	0	1	0	4	48				
ABCA1	19	broad.mit.edu	37	9	107547732	107547732	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:107547732C>A	ENST00000374736.3	-	49	6984	c.6590G>T	c.(6589-6591)aGc>aTc	p.S2197I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2197					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TCGCTTTTTGCTCTGGGAGAG	0.433																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(6589-6591)aGc>aTc		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						120.0	114.0	116.0					9																	107547732		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107547732C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6590G>T	9.37:g.107547732C>A	ENSP00000363868:p.Ser2197Ile						p.S2197I	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	49	6984	-			2197					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.6590G>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198490	0.58126	.	.	ENSG00000165029	ENST00000374736	D	0.83163	-1.69	6.0	5.0	0.66597	.	0.040345	0.85682	D	0.000000	T	0.68824	0.3043	L	0.27053	0.805	0.80722	D	1	B	0.16396	0.017	B	0.13407	0.009	T	0.64309	-0.6438	10	0.41790	T	0.15	.	4.0212	0.09667	0.0:0.6916:0.0:0.3084	.	2197	O95477	ABCA1_HUMAN	I	2197	ENSP00000363868:S2197I	ENSP00000363868:S2197I	S	-	2	0	ABCA1	106587553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.086000	0.64474	2.850000	0.98022	0.650000	0.86243	AGC		0.433	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		4	156	1	0	0.150653	1	0.152426	4	156				
TCHHL1	126637	broad.mit.edu	37	1	152058921	152058921	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:152058921G>A	ENST00000368806.1	-	3	1301	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	413							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACTAGTGGCCGAGTTTTTCTG	0.443																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(1237-1239)Cgg>Tgg		trichohyalin-like 1							133.0	129.0	131.0					1																	152058921		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058921G>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1237C>T	1.37:g.152058921G>A	ENSP00000357796:p.Arg413Trp						p.R413W	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1301	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		413					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.1237C>T	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	14.43	2.532747	0.45073	.	.	ENSG00000182898	ENST00000368806	T	0.25579	1.79	5.59	3.59	0.41128	.	0.196189	0.25358	N	0.031248	T	0.06600	0.0169	L	0.29908	0.895	0.09310	N	1	P	0.48589	0.912	B	0.33799	0.17	T	0.08827	-1.0703	10	0.72032	D	0.01	-0.0043	10.6862	0.45843	0.0:0.0:0.6545:0.3455	.	413	Q5QJ38	TCHL1_HUMAN	W	413	ENSP00000357796:R413W	ENSP00000357796:R413W	R	-	1	2	TCHHL1	150325545	0.002000	0.14202	0.003000	0.11579	0.128000	0.20619	0.932000	0.28884	1.342000	0.45619	0.650000	0.86243	CGG		0.443	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		15	321	0	0	0	1	0	15	321				
ZNF106	64397	broad.mit.edu	37	15	42714728	42714728	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:42714728C>A	ENST00000263805.4	-	15	5601	c.5275G>T	c.(5275-5277)Gat>Tat	p.D1759Y	ZNF106_ENST00000565380.1_Missense_Mutation_p.D987Y|ZNF106_ENST00000565611.1_Missense_Mutation_p.D944Y|ZNF106_ENST00000565660.1_5'UTR	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1759					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										ACAAATTTATCCAGGCAAGCA	0.388																																						ENST00000263805.4																			0											c.(5275-5277)Gat>Tat		zinc finger protein 106							106.0	95.0	98.0					15																	42714728		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42714728C>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5275G>T	15.37:g.42714728C>A	ENSP00000263805:p.Asp1759Tyr					ZNF106_ENST00000565611.1_Missense_Mutation_p.D944Y|ZNF106_ENST00000565660.1_5'UTR|ZNF106_ENST00000565380.1_Missense_Mutation_p.D987Y	p.D1759Y	NM_022473.1	NP_071918.1					15	5601	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.5275G>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449131	0.84101	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	D	0.89415	-2.51	5.4	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.148571	0.64402	D	0.000011	D	0.92967	0.7762	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.936;0.994;0.983	D	0.93664	0.6984	10	0.87932	D	0	-24.7526	14.1015	0.65059	0.0:0.9282:0.0:0.0718	.	987;1759;987	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	Y	1759;987	ENSP00000263805:D1759Y	ENSP00000263805:D1759Y	D	-	1	0	ZFP106	40502020	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.296000	0.78790	1.523000	0.49018	0.655000	0.94253	GAT		0.388	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		8	101	1	0	0.000157383	1	0.000163072	8	101				
MSC	9242	broad.mit.edu	37	8	72756362	72756362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr8:72756362G>A	ENST00000325509.4	-	1	341	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	RP11-383H13.1_ENST00000457356.4_3'UTR|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	18					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TACTCCCGCTGCAGCCCCCGA	0.692																																						ENST00000325509.4																			0				endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(52-54)Cag>Tag		musculin							15.0	17.0	17.0					8																	72756362		1626	3501	5127	SO:0001587	stop_gained	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72756362G>A		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.52C>T	8.37:g.72756362G>A	ENSP00000321445:p.Gln18*					RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	p.Q18*	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		1	341	-	Breast(64;0.176)		18					O75946|Q53XZ2|Q9BRE7	Nonsense_Mutation	SNP	ENST00000325509.4	37	c.52C>T	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	G	39	7.795582	0.98495	.	.	ENSG00000178860	ENST00000325509	.	.	.	4.11	3.21	0.36854	.	0.313505	0.26650	N	0.023215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	12.9554	0.58424	0.0:0.0:0.8367:0.1633	.	.	.	.	X	18	.	ENSP00000321445:Q18X	Q	-	1	0	MSC	72918916	0.988000	0.35896	0.995000	0.50966	0.987000	0.75469	1.266000	0.33039	0.894000	0.36317	0.561000	0.74099	CAG		0.692	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		25	36	0	0	0	1	0	25	36				
RP11-423O2.5	0	broad.mit.edu	37	1	142803480	142803480	+	lincRNA	SNP	T	T	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:142803480T>C	ENST00000423385.1	-	0	1485																											GATTTTAATATTCTGTACATT	0.343																																						ENST00000423385.1																			0																																																			0							g.chr1:142803480T>C																													1.37:g.142803480T>C														0	1485	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.343	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			10	159	0	0	0	1	0	10	159				
GABRA4	2557	broad.mit.edu	37	4	46967170	46967170	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:46967170G>A	ENST00000264318.3	-	8	1933	c.951C>T	c.(949-951)acC>acT	p.T317T		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	317					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGTCCATGGCGGTAGCATAGG	0.433																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(949-951)acC>acT		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						160.0	133.0	142.0					4																	46967170		2203	4300	6503	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46967170G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.951C>T	4.37:g.46967170G>A							p.T317T	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			8	1933	-			317					Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.951C>T	CCDS3473.1																																																																																				0.433	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			4	150	0	0	0	1	0	4	150				
MUC7	4589	broad.mit.edu	37	4	71346666	71346666	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:71346666C>T	ENST00000304887.5	+	3	395	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	MUC7_ENST00000413702.1_Missense_Mutation_p.R69C|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.R69C	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	69					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCTGCACAAACGCTGTAGGCC	0.443																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(205-207)Cgc>Tgc		mucin 7, secreted							162.0	157.0	159.0					4																	71346666		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346666C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.205C>T	4.37:g.71346666C>T	ENSP00000302021:p.Arg69Cys					MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.R69C|MUC7_ENST00000456088.1_Missense_Mutation_p.R69C	p.R69C	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	493	+			69					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.205C>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656420	0.29425	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.56611	0.47;0.45;0.47;0.47	3.06	0.563	0.17296	.	.	.	.	.	T	0.28532	0.0706	N	0.19112	0.55	0.09310	N	1	P	0.42757	0.789	B	0.33254	0.16	T	0.12734	-1.0536	9	0.54805	T	0.06	8.1396	4.4629	0.11675	0.2136:0.612:0.0:0.1744	.	69	Q8TAX7	MUC7_HUMAN	C	69	ENSP00000407422:R69C;ENSP00000427594:R69C;ENSP00000400585:R69C;ENSP00000302021:R69C	ENSP00000302021:R69C	R	+	1	0	MUC7	71381255	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.555000	0.23422	0.080000	0.16959	0.655000	0.94253	CGC		0.443	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		24	106	0	0	0	1	0	24	106				
DDX60L	91351	broad.mit.edu	37	4	169383094	169383094	+	Missense_Mutation	SNP	G	G	A	rs35627377		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:169383094G>A	ENST00000511577.1	-	5	609	c.362C>T	c.(361-363)aCg>aTg	p.T121M	DDX60L_ENST00000260184.7_Missense_Mutation_p.T121M|DDX60L_ENST00000505890.1_Missense_Mutation_p.T121M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	121							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGAAAACTCCGTTTGCACATC	0.378																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(361-363)aCg>aTg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							72.0	70.0	70.0					4																	169383094		1852	4098	5950	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169383094G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.362C>T	4.37:g.169383094G>A	ENSP00000422423:p.Thr121Met					DDX60L_ENST00000505890.1_Missense_Mutation_p.T121M|DDX60L_ENST00000260184.7_Missense_Mutation_p.T121M	p.T121M			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	5	609	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	121					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.362C>T		.	.	.	.	.	.	.	.	.	.	G	21.8	4.205738	0.79127	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505696	T;T;T	0.21361	2.01;2.01;2.01	3.39	3.39	0.38822	.	0.000000	0.39146	U	0.001442	T	0.43678	0.1258	M	0.68317	2.08	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	T	0.29640	-1.0005	10	0.87932	D	0	.	14.7	0.69150	0.0:0.0:1.0:0.0	.	121;121	D6R906;Q5H9U9	.;DDX6L_HUMAN	M	121	ENSP00000260184:T121M;ENSP00000422423:T121M;ENSP00000422202:T121M	ENSP00000260184:T121M	T	-	2	0	DDX60L	169619669	0.988000	0.35896	0.007000	0.13788	0.778000	0.44026	4.271000	0.58902	1.580000	0.49851	0.467000	0.42956	ACG		0.378	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		6	39	0	0	0	1	0	6	39				
PLXND1	23129	broad.mit.edu	37	3	129291460	129291460	+	Silent	SNP	C	C	T	rs561945149		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:129291460C>T	ENST00000324093.4	-	15	3247	c.3069G>A	c.(3067-3069)acG>acA	p.T1023T	PLXND1_ENST00000393239.1_Silent_p.T1023T	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1023	IPT/TIG 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACATCAGCTCCGTGCAGGGGT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		18112	0.001		0.0	False		,,,				2504	0.0				Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(3067-3069)acG>acA		plexin D1							39.0	35.0	36.0					3																	129291460		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129291460C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3069G>A	3.37:g.129291460C>T						PLXND1_ENST00000324093.4_Silent_p.T1023T	p.T1023T			Q9Y4D7	PLXD1_HUMAN			15	3247	-			1023			IPT/TIG 2.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.3069G>A	CCDS33854.1																																																																																				0.632	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		5	11	0	0	0	1	0	5	11				
PKLR	5313	broad.mit.edu	37	1	155269925	155269925	+	Missense_Mutation	SNP	C	C	T	rs368492204		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:155269925C>T	ENST00000342741.4	-	2	285	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	PKLR_ENST00000392414.3_Missense_Mutation_p.V52M	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	83					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CGAGCAGCCACGGGCTCGGAG	0.582																																						ENST00000392414.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(154-156)Gtg>Atg		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)	C	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	69.0	68.0	68.0		247,154	1.0	0.8	1		68	0,8600		0,0,4300	no	missense,missense	PKLR	NM_000298.5,NM_181871.3	21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	83/575,52/544	155269925	1,13005	2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155269925C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.247G>A	1.37:g.155269925C>T	ENSP00000339933:p.Val83Met					PKLR_ENST00000342741.4_Missense_Mutation_p.V83M	p.V52M	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	267	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		83		Missing (in PKRD).			O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.154G>A	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	8.996	0.978888	0.18812	2.27E-4	0.0	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99797	-6.79;-6.79	4.02	0.963	0.19649	Pyruvate/Phosphoenolpyruvate kinase (1);	0.140048	0.48767	D	0.000171	D	0.96266	0.8782	N	0.22421	0.69	0.26349	N	0.977239	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	D	0.97807	1.0248	10	0.39692	T	0.17	-12.7966	3.449	0.07491	0.1814:0.5189:0.0:0.2997	.	83;74	P30613;B1AVT1	KPYR_HUMAN;.	M	108;52;83;19	ENSP00000376214:V52M;ENSP00000339933:V83M	ENSP00000271946:V19M	V	-	1	0	PKLR	153536549	0.845000	0.29573	0.793000	0.32043	0.477000	0.33069	1.465000	0.35299	0.336000	0.23639	-0.233000	0.12211	GTG		0.582	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		7	130	0	0	0	1	0	7	130				
HMCN1	83872	broad.mit.edu	37	1	185970471	185970471	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:185970471T>C	ENST00000271588.4	+	27	4340	c.4111T>C	c.(4111-4113)Tcg>Ccg	p.S1371P	HMCN1_ENST00000367492.2_Missense_Mutation_p.S1371P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1371	Ig-like C2-type 11.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACAAATGTGTCGGTGTTGTT	0.348																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(4111-4113)Tcg>Ccg		hemicentin 1							97.0	95.0	96.0					1																	185970471		2202	4300	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185970471T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4111T>C	1.37:g.185970471T>C	ENSP00000271588:p.Ser1371Pro					HMCN1_ENST00000367492.2_Missense_Mutation_p.S1371P	p.S1371P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			27	4340	+			1371			Ig-like C2-type 11.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.4111T>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	19.86	3.905488	0.72868	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68025	-0.3;-0.3	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055141	0.85682	D	0.000000	T	0.82157	0.4976	M	0.81942	2.565	0.58432	D	0.999998	D	0.71674	0.998	D	0.81914	0.995	T	0.82647	-0.0354	10	0.41790	T	0.15	.	15.9967	0.80256	0.0:0.0:0.0:1.0	.	1371	Q96RW7	HMCN1_HUMAN	P	1371	ENSP00000271588:S1371P;ENSP00000356462:S1371P	ENSP00000271588:S1371P	S	+	1	0	HMCN1	184237094	1.000000	0.71417	0.994000	0.49952	0.865000	0.49528	4.101000	0.57769	2.181000	0.69327	0.477000	0.44152	TCG		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		47	55	0	0	0	1	0	47	55				
LRTM1	57408	broad.mit.edu	37	3	54952872	54952872	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:54952872C>T	ENST00000273286.5	-	3	814	c.652G>A	c.(652-654)Gga>Aga	p.G218R	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.G142R|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	218	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGGTCCTTTCCCTTCCAGGTG	0.517																																						ENST00000273286.5																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21						c.(652-654)Gga>Aga		leucine-rich repeats and transmembrane domains 1							55.0	50.0	52.0					3																	54952872		2203	4300	6503	SO:0001583	missense	57408					integral to membrane		g.chr3:54952872C>T	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.652G>A	3.37:g.54952872C>T	ENSP00000273286:p.Gly218Arg					CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.G142R|CACNA2D3_ENST00000474759.1_Intron	p.G218R	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)	3	814	-			218			LRRCT.		Q8IUU2	Missense_Mutation	SNP	ENST00000273286.5	37	c.652G>A	CCDS2876.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639665	0.87760	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;T	0.58060	4.16;0.36	6.07	6.07	0.98685	Cysteine-rich flanking region, C-terminal (1);	0.155522	0.64402	D	0.000020	T	0.80042	0.4551	M	0.92507	3.315	0.48975	D	0.999731	D	0.89917	1.0	D	0.74023	0.982	D	0.83733	0.0199	10	0.87932	D	0	.	18.8245	0.92111	0.0:1.0:0.0:0.0	.	218	Q9HBL6	LRTM1_HUMAN	R	218;142	ENSP00000273286:G218R;ENSP00000419772:G142R	ENSP00000273286:G218R	G	-	1	0	LRTM1	54927912	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.408000	0.59761	2.884000	0.98904	0.655000	0.94253	GGA		0.517	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678		4	93	0	0	0	1	0	4	93				
SLC8A1	6546	broad.mit.edu	37	2	40405554	40405554	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:40405554G>A	ENST00000403092.1	-	3	1921	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000406785.2_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	630					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCCACCAGGCGGGGCTCTCCA	0.498																																						ENST00000542756.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1888-1890)Cgc>Tgc		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						186.0	190.0	189.0					2																	40405554		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40405554G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1888C>T	2.37:g.40405554G>A	ENSP00000384763:p.Arg630Cys					SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R630C|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA	p.R630C			P32418	NAC1_HUMAN			3	1911	-			630					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1888C>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035710	0.54896	.	.	ENSG00000183023	ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000332839	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.39	4.51	0.55191	.	0.231527	0.41500	D	0.000864	T	0.26846	0.0657	L	0.40543	1.245	0.80722	D	1	D;P	0.55605	0.972;0.951	B;B	0.42827	0.399;0.167	T	0.02603	-1.1135	10	0.45353	T	0.12	.	11.9299	0.52841	0.0847:0.0:0.9153:0.0	.	630;630	F6VPY9;P32418	.;NAC1_HUMAN	C	630	ENSP00000440727:R630C;ENSP00000384763:R630C;ENSP00000385678:R630C;ENSP00000332931:R630C	ENSP00000332931:R630C	R	-	1	0	SLC8A1	40259058	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.172000	0.71932	1.266000	0.44231	0.591000	0.81541	CGC		0.498	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		44	393	0	0	0	1	0	44	393				
PNPLA7	375775	broad.mit.edu	37	9	140356488	140356488	+	Silent	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:140356488C>T	ENST00000277531.4	-	31	3762	c.3576G>A	c.(3574-3576)gtG>gtA	p.V1192V	NSMF_ENST00000371472.2_5'Flank|PNPLA7_ENST00000406427.1_Silent_p.V1217V|PNPLA7_ENST00000371457.1_Silent_p.V798V|NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000392812.4_5'Flank|NSMF_ENST00000437259.1_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000371473.3_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1192					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCTGGTAGCCCACTTCCTGTG	0.677																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3649-3651)gtG>gtA		patatin-like phospholipase domain containing 7							11.0	12.0	12.0					9																	140356488		2186	4291	6477	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140356488C>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3576G>A	9.37:g.140356488C>T						PNPLA7_ENST00000371457.1_Silent_p.V798V|PNPLA7_ENST00000277531.4_Silent_p.V1192V|PNPLA7_ENST00000492278.1_5'UTR	p.V1217V	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	32	3987	-	all_cancers(76;0.126)		1192					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.3651G>A	CCDS7045.1																																																																																				0.677	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		6	15	0	0	0	1	0	6	15				
MX2	4600	broad.mit.edu	37	21	42773954	42773954	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr21:42773954A>G	ENST00000330714.3	+	11	1656	c.1472A>G	c.(1471-1473)gAg>gGg	p.E491G	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	491					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CGAGGCAAGGAGCTTCTGGGA	0.433																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(1471-1473)gAg>gGg		myxovirus (influenza virus) resistance 2 (mouse)							128.0	121.0	124.0					21																	42773954		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42773954A>G		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1472A>G	21.37:g.42773954A>G	ENSP00000333657:p.Glu491Gly					MX2_ENST00000496774.1_3'UTR	p.E491G	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			11	1656	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	491					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1472A>G	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666438	0.67814	.	.	ENSG00000183486	ENST00000330714	T	0.74842	-0.88	3.69	3.69	0.42338	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	M	0.84585	2.705	0.80722	D	1	P	0.37636	0.603	P	0.51945	0.685	D	0.86259	0.1654	10	0.87932	D	0	.	11.9258	0.52819	1.0:0.0:0.0:0.0	.	491	P20592	MX2_HUMAN	G	491	ENSP00000333657:E491G	ENSP00000333657:E491G	E	+	2	0	MX2	41695824	1.000000	0.71417	0.532000	0.27989	0.544000	0.35116	7.542000	0.82095	1.641000	0.50575	0.456000	0.33151	GAG		0.433	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		7	201	0	0	0	1	0	7	201				
OPRK1	4986	broad.mit.edu	37	8	54142359	54142359	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr8:54142359A>G	ENST00000265572.3	-	4	938	c.641T>C	c.(640-642)tTc>tCc	p.F214S	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.F125S|OPRK1_ENST00000520287.1_Missense_Mutation_p.F214S	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	214					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ATCATCTGGGAACTGCAAGGA	0.473																																						ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(640-642)tTc>tCc		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						55.0	59.0	58.0					8																	54142359		2203	4300	6503	SO:0001583	missense	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54142359A>G		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.641T>C	8.37:g.54142359A>G	ENSP00000265572:p.Phe214Ser					RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.F214S|OPRK1_ENST00000524278.1_Missense_Mutation_p.F125S	p.F214S	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			4	938	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	214					E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.641T>C	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732088	0.69189	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.38401	1.14;1.14;1.14	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.087662	0.85682	D	0.000000	T	0.56140	0.1965	M	0.82132	2.575	0.80722	D	1	P	0.51057	0.941	P	0.53722	0.733	T	0.62718	-0.6795	10	0.72032	D	0.01	.	15.9651	0.79966	1.0:0.0:0.0:0.0	.	214	P41145	OPRK_HUMAN	S	214;125;214;200	ENSP00000265572:F214S;ENSP00000430923:F125S;ENSP00000429706:F214S	ENSP00000265572:F214S	F	-	2	0	OPRK1	54304912	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	9.339000	0.96797	2.175000	0.68902	0.528000	0.53228	TTC		0.473	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			16	48	0	0	0	1	0	16	48				
WDR17	116966	broad.mit.edu	37	4	177067236	177067236	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:177067236G>A	ENST00000280190.4	+	13	1848	c.1692G>A	c.(1690-1692)ggG>ggA	p.G564G	WDR17_ENST00000393643.2_Silent_p.G540G|WDR17_ENST00000508596.1_Silent_p.G540G|WDR17_ENST00000507824.2_Silent_p.G547G			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	564										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TATTTAGTGGGCATACAGCAA	0.388																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(1618-1620)ggG>ggA		WD repeat domain 17							149.0	143.0	145.0					4																	177067236		2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177067236G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1692G>A	4.37:g.177067236G>A						WDR17_ENST00000508596.1_Silent_p.G540G|WDR17_ENST00000280190.4_Silent_p.G564G|WDR17_ENST00000507824.2_Silent_p.G547G	p.G540G	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	12	1872	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	564					E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.1620G>A	CCDS3825.1																																																																																				0.388	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			4	130	0	0	0	1	0	4	130				
TBC1D9B	23061	broad.mit.edu	37	5	179297323	179297323	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:179297323C>T	ENST00000356834.3	-	16	2694	c.2657G>A	c.(2656-2658)cGc>cAc	p.R886H	TBC1D9B_ENST00000444477.2_Missense_Mutation_p.R44H|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R886H|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.R62H	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	886	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGAACATGCGCCCTGCCAG	0.592																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(2656-2658)cGc>cAc		TBC1 domain family, member 9B (with GRAM domain)							103.0	107.0	105.0					5																	179297323		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179297323C>T	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2657G>A	5.37:g.179297323C>T	ENSP00000349291:p.Arg886His					TBC1D9B_ENST00000444477.2_Missense_Mutation_p.R44H|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R886H|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.R62H	p.R886H	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2694	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	886			EF-hand.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.2657G>A	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852170	0.71719	.	.	ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	4.93	4.93	0.64822	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.998;0.999;1.0;0.991;0.999	T	0.65857	-0.6066	10	0.72032	D	0.01	-25.2038	18.1555	0.89689	0.0:1.0:0.0:0.0	.	62;230;886;886;886;102	B4E3K0;B3KQE0;A1L3A9;Q66K14-2;Q66K14;B3KM54	.;.;.;.;TBC9B_HUMAN;.	H	886;886;62;44	ENSP00000349291:R886H;ENSP00000347375:R886H;ENSP00000430293:R62H;ENSP00000401585:R44H	ENSP00000347375:R886H	R	-	2	0	TBC1D9B	179229929	1.000000	0.71417	0.995000	0.50966	0.014000	0.08584	7.682000	0.84083	2.283000	0.76528	0.555000	0.69702	CGC		0.592	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		4	238	0	0	0	1	0	4	238				
TMEM168	64418	broad.mit.edu	37	7	112424079	112424079	+	Missense_Mutation	SNP	C	C	T	rs201768776	byFrequency	TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:112424079C>T	ENST00000312814.6	-	2	1362	c.802G>A	c.(802-804)Gtt>Att	p.V268I	TMEM168_ENST00000454074.1_Missense_Mutation_p.V268I	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	268						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CCAGCAAAAACGACTGAAAGT	0.358													C|||	2	0.000399361	0.0	0.0	5008	,	,		18228	0.002		0.0	False		,,,				2504	0.0					ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(802-804)Gtt>Att		transmembrane protein 168							145.0	163.0	157.0					7																	112424079		2203	4299	6502	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112424079C>T		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.802G>A	7.37:g.112424079C>T	ENSP00000323068:p.Val268Ile					TMEM168_ENST00000454074.1_Missense_Mutation_p.V268I	p.V268I	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			2	1362	-			268					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.802G>A	CCDS5757.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.372	0.835576	0.16820	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	1.76	0.24704	.	0.168374	0.52532	D	0.000063	T	0.12050	0.0293	N	0.00538	-1.39	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03566	-1.1024	9	0.15952	T	0.53	-16.6917	3.4983	0.07664	0.0:0.3519:0.1994:0.4487	.	268	Q9H0V1	TM168_HUMAN	I	268	.	ENSP00000323068:V268I	V	-	1	0	TMEM168	112211315	0.914000	0.31030	0.536000	0.28039	0.992000	0.81027	1.426000	0.34870	0.440000	0.26502	0.650000	0.86243	GTT		0.358	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		134	303	0	0	0	1	0	134	303				
GIMAP4	55303	broad.mit.edu	37	7	150269790	150269790	+	Missense_Mutation	SNP	G	G	A	rs200017717		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:150269790G>A	ENST00000255945.2	+	3	807	c.632G>A	c.(631-633)cGc>cAc	p.R211H	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.R225H	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	211	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGATCCAGCGCGTGGTGAGG	0.542																																						ENST00000255945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(631-633)cGc>cAc		GTPase, IMAP family member 4							93.0	91.0	92.0					7																	150269790		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269790G>A	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.632G>A	7.37:g.150269790G>A	ENSP00000255945:p.Arg211His					GIMAP4_ENST00000461940.1_Missense_Mutation_p.R225H|GIMAP4_ENST00000494750.1_3'UTR	p.R211H	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	807	+			211						Missense_Mutation	SNP	ENST00000255945.2	37	c.632G>A	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421886	0.25639	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938	T;T	0.62105	0.05;0.05	4.82	-5.81	0.02340	AIG1 (1);	1.494340	0.03308	N	0.190043	T	0.53254	0.1785	L	0.52364	1.645	0.09310	N	1	B;B	0.22276	0.067;0.059	B;B	0.17098	0.008;0.017	T	0.46005	-0.9222	10	0.46703	T	0.11	.	9.0796	0.36542	0.6681:0.1233:0.2086:0.0	.	225;211	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	H	211;225;143	ENSP00000255945:R211H;ENSP00000419545:R225H	ENSP00000255945:R211H	R	+	2	0	GIMAP4	149900723	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.483000	0.00980	-1.201000	0.02659	-0.886000	0.02939	CGC		0.542	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		16	157	0	0	0	1	0	16	157				
MAP3K15	389840	broad.mit.edu	37	X	19443789	19443789	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chrX:19443789C>A	ENST00000338883.4	-	9	1298	c.1299G>T	c.(1297-1299)ttG>ttT	p.L433F	MAP3K15_ENST00000469203.2_Missense_Mutation_p.L265F|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	433							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTCTTCCCAACAAACTGTTCA	0.413																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1297-1299)ttG>ttT		mitogen-activated protein kinase kinase kinase 15							74.0	56.0	61.0					X																	19443789		1568	3582	5150	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19443789C>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1299G>T	X.37:g.19443789C>A	ENSP00000345629:p.Leu433Phe					MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.L265F|MAP3K15_ENST00000359173.3_5'UTR	p.L433F	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			9	1298	-	Hepatocellular(33;0.183)		433					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.1299G>T		.	.	.	.	.	.	.	.	.	.	C	17.07	3.295570	0.60086	.	.	ENSG00000180815	ENST00000338883;ENST00000469203	T;T	0.13538	2.58;2.58	5.82	0.957	0.19613	.	0.000000	0.64402	D	0.000002	T	0.22936	0.0554	M	0.81341	2.54	0.47441	D	0.999427	.	.	.	.	.	.	T	0.02471	-1.1154	8	0.66056	D	0.02	.	1.9481	0.03361	0.1277:0.3767:0.1226:0.373	.	.	.	.	F	433;265	ENSP00000345629:L433F;ENSP00000428356:L265F	ENSP00000345629:L433F	L	-	3	2	MAP3K15	19353710	0.988000	0.35896	0.946000	0.38457	0.989000	0.77384	0.279000	0.18771	0.042000	0.15717	0.591000	0.81541	TTG		0.413	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		3	28	1	0	0.115264	1	0.118008	3	28				
CFAP61	26074	broad.mit.edu	37	20	20056149	20056149	+	Silent	SNP	T	T	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:20056149T>C	ENST00000245957.5	+	6	532	c.456T>C	c.(454-456)acT>acC	p.T152T	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Silent_p.T152T|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Silent_p.T152T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		152										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCTCATAACTGTTTTTGACC	0.403																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(454-456)acT>acC		chromosome 20 open reading frame 26							135.0	131.0	132.0					20																	20056149		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20056149T>C																												ENST00000245957.5:c.456T>C	20.37:g.20056149T>C						C20orf26_ENST00000451767.2_Silent_p.T152T|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Silent_p.T152T|C20orf26_ENST00000377309.2_5'UTR	p.T152T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	6	532	+			152					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.456T>C	CCDS33447.1																																																																																				0.403	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			65	194	0	0	0	1	0	65	194				
TLR3	7098	broad.mit.edu	37	4	187004790	187004790	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:187004790G>A	ENST00000296795.3	+	4	2054	c.1950G>A	c.(1948-1950)acG>acA	p.T650T	TLR3_ENST00000504367.1_Silent_p.T373T	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	650	LRRCT.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTGATTGCACGTGTGAAAGTA	0.443																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1948-1950)acG>acA		toll-like receptor 3							114.0	122.0	119.0					4																	187004790		2202	4300	6502	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004790G>A	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1950G>A	4.37:g.187004790G>A						TLR3_ENST00000504367.1_Silent_p.T373T	p.T650T	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	2054	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	650			LRRCT.		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.1950G>A	CCDS3846.1																																																																																				0.443	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			4	197	0	0	0	1	0	4	197				
GRM5	2915	broad.mit.edu	37	11	88386475	88386475	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:88386475C>G	ENST00000305447.4	-	3	1157	c.1008G>C	c.(1006-1008)tgG>tgC	p.W336C	GRM5_ENST00000393297.1_Missense_Mutation_p.W336C|GRM5_ENST00000305432.5_Missense_Mutation_p.W336C|GRM5_ENST00000455756.2_Missense_Mutation_p.W336C|GRM5_ENST00000418177.2_Missense_Mutation_p.W336C	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	336					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AATCATCAAACCACTTGACAT	0.478																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1006-1008)tgG>tgC		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						103.0	102.0	103.0					11																	88386475		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88386475C>G	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1008G>C	11.37:g.88386475C>G	ENSP00000306138:p.Trp336Cys					GRM5_ENST00000393297.1_Missense_Mutation_p.W336C|GRM5_ENST00000305447.4_Missense_Mutation_p.W336C|GRM5_ENST00000455756.2_Missense_Mutation_p.W336C|GRM5_ENST00000305432.5_Missense_Mutation_p.W336C	p.W336C			P41594	GRM5_HUMAN			4	1375	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	336					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1008G>C	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180885	0.78677	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90431	0.7004	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.88392	0.3009	9	.	.	.	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	336;336	P41594-2;P41594	.;GRM5_HUMAN	C	336	ENSP00000402912:W336C;ENSP00000405690:W336C;ENSP00000305905:W336C;ENSP00000306138:W336C;ENSP00000376975:W336C	.	W	-	3	0	GRM5	88026123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.789000	0.95967	0.591000	0.81541	TGG		0.478	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		20	89	0	0	0	1	0	20	89				
CFAP43	80217	broad.mit.edu	37	10	105942139	105942139	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:105942139G>A	ENST00000278064.2	-	17	2392	c.2067C>T	c.(2065-2067)tcC>tcT	p.S689S	WDR96_ENST00000357060.3_Silent_p.S758S|WDR96_ENST00000428666.1_Silent_p.S759S																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTCAGAATCGGATCCCAAAT	0.378																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2272-2274)tcC>tcT		WD repeat domain 96							203.0	180.0	188.0					10																	105942139		2203	4300	6503	SO:0001819	synonymous_variant	80217							g.chr10:105942139G>A																												ENST00000278064.2:c.2067C>T	10.37:g.105942139G>A						WDR96_ENST00000278064.2_Silent_p.S689S|WDR96_ENST00000428666.1_Silent_p.S759S	p.S758S	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			17	2389	-			758						Silent	SNP	ENST00000278064.2	37	c.2274C>T		.	.	.	.	.	.	.	.	.	.	G	2.945	-0.218074	0.06101	.	.	ENSG00000197748	ENST00000434629	.	.	.	4.78	-8.49	0.00931	.	.	.	.	.	T	0.15305	0.0369	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22138	-1.0225	4	.	.	.	.	1.7606	0.02991	0.4091:0.2212:0.2564:0.1133	.	.	.	.	L	119	.	.	P	-	2	0	WDR96	105932129	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.284000	0.02793	-1.245000	0.02513	-0.157000	0.13467	CCG		0.378	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			38	162	0	0	0	1	0	38	162				
KMT2A	4297	broad.mit.edu	37	11	118344558	118344558	+	Missense_Mutation	SNP	A	A	G	rs200600434		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:118344558A>G	ENST00000389506.5	+	3	2684	c.2684A>G	c.(2683-2685)aAg>aGg	p.K895R	KMT2A_ENST00000534358.1_Missense_Mutation_p.K895R|KMT2A_ENST00000354520.4_Missense_Mutation_p.K895R			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	895					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										aaaaggaaaaagggaTCAGAA	0.458																																						ENST00000534358.1																			0											c.(2683-2685)aAg>aGg		lysine (K)-specific methyltransferase 2A																																				SO:0001583	missense	4297							g.chr11:118344558A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.2684A>G	11.37:g.118344558A>G	ENSP00000374157:p.Lys895Arg					KMT2A_ENST00000354520.4_Missense_Mutation_p.K895R|KMT2A_ENST00000389506.5_Missense_Mutation_p.K895R	p.K895R	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	2707	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.2684A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.970012	0.34754	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	D;T;D;D	0.83992	-1.79;1.23;-1.79;-1.72	5.56	5.56	0.83823	.	0.063937	0.64402	D	0.000002	T	0.77532	0.4144	N	0.20986	0.625	0.42732	D	0.993714	D;D;D	0.54601	0.967;0.967;0.967	P;P;P	0.47206	0.541;0.541;0.541	T	0.77159	-0.2690	10	0.29301	T	0.29	.	16.0119	0.80409	1.0:0.0:0.0:0.0	.	895;895;928	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	R	895;928;895;895	ENSP00000436786:K895R;ENSP00000432391:K928R;ENSP00000374157:K895R;ENSP00000346516:K895R	ENSP00000346516:K895R	K	+	2	0	MLL	117849768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.614000	0.54160	2.245000	0.73994	0.482000	0.46254	AAG		0.458	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		3	107	0	0	0	1	0	3	107				
TPX2	22974	broad.mit.edu	37	20	30345320	30345320	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:30345320C>T	ENST00000300403.6	+	3	569	c.41C>T	c.(40-42)tCg>tTg	p.S14L	TPX2_ENST00000340513.4_Missense_Mutation_p.S14L	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	14					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GATGCCCCCTCGGATTTCATC	0.398																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(40-42)tCg>tTg		TPX2, microtubule-associated							174.0	163.0	167.0					20																	30345320		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30345320C>T	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.41C>T	20.37:g.30345320C>T	ENSP00000300403:p.Ser14Leu					TPX2_ENST00000300403.6_Missense_Mutation_p.S14L	p.S14L			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		3	569	+			14					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.41C>T	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	C	7.411	0.634832	0.14322	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.31247	1.5	4.99	-0.32	0.12721	Aurora-A binding (1);	0.744667	0.12311	N	0.480226	T	0.16938	0.0407	N	0.24115	0.695	0.09310	N	1	B;B	0.19445	0.036;0.036	B;B	0.13407	0.009;0.005	T	0.20140	-1.0284	10	0.66056	D	0.02	-0.8177	3.8753	0.09054	0.1587:0.4938:0.0:0.3475	.	14;14	Q96RR5;Q9ULW0	.;TPX2_HUMAN	L	14	ENSP00000341145:S14L	ENSP00000300403:S14L	S	+	2	0	TPX2	29808981	0.549000	0.26481	0.170000	0.22879	0.003000	0.03518	0.034000	0.13776	-0.091000	0.12440	-1.083000	0.02208	TCG		0.398	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			11	159	0	0	0	1	0	11	159				
RET	5979	broad.mit.edu	37	10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTGGACCTTGCGGCGTCCACT	0.557		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(3055-3057)gCg>gTg		ret proto-oncogene	Sunitinib(DB01268)						252.0	239.0	243.0					10																	43622039		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43622039C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3056C>T	10.37:g.43622039C>T	ENSP00000347942:p.Ala1019Val					RET_ENST00000340058.5_Missense_Mutation_p.A1019V	p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			19	3288	+		Ovarian(717;0.0423)	1019					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.3056C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010130	0.75046	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.80304	-1.24;-1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.85682	0.1301	10	0.52906	T	0.07	.	18.5126	0.90923	0.0:1.0:0.0:0.0	.	765;1019;1019	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	1019	ENSP00000347942:A1019V;ENSP00000344798:A1019V	ENSP00000344798:A1019V	A	+	2	0	RET	42942045	1.000000	0.71417	0.735000	0.30896	0.550000	0.35303	7.786000	0.85741	2.374000	0.81015	0.655000	0.94253	GCG		0.557	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		6	507	0	0	0	1	0	6	507				
ADAMTS5	11096	broad.mit.edu	37	21	28296758	28296758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr21:28296758C>A	ENST00000284987.5	-	8	2528	c.2407G>T	c.(2407-2409)Gga>Tga	p.G803*	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	803	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ATGACTGTTCCATTGATGTCA	0.433																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(2407-2409)Gga>Tga		ADAM metallopeptidase with thrombospondin type 1 motif, 5							195.0	186.0	189.0					21																	28296758		2203	4300	6503	SO:0001587	stop_gained	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296758C>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2407G>T	21.37:g.28296758C>A	ENSP00000284987:p.Gly803*					AP001601.2_ENST00000426771.1_RNA	p.G803*	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			8	2528	-			803			Spacer.		Q52LV4|Q9UKP2	Nonsense_Mutation	SNP	ENST00000284987.5	37	c.2407G>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	40	8.222571	0.98714	.	.	ENSG00000154736	ENST00000284987	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	.	.	.	X	803	.	ENSP00000284987:G803X	G	-	1	0	ADAMTS5	27218629	1.000000	0.71417	0.834000	0.33040	0.989000	0.77384	7.463000	0.80869	2.769000	0.95229	0.655000	0.94253	GGA		0.433	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			8	430	1	0	0.000157383	1	0.000163072	8	430				
MUC17	140453	broad.mit.edu	37	7	100680099	100680099	+	Missense_Mutation	SNP	C	C	T	rs147751797		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:100680099C>T	ENST00000306151.4	+	3	5466	c.5402C>T	c.(5401-5403)tCg>tTg	p.S1801L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1801	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATACCAACCTCGACTCTTAGT	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5401-5403)tCg>tTg		mucin 17, cell surface associated		C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	260.0	264.0	262.0		5402	0.7	0.0	7	dbSNP_134	262	0,8600		0,0,4300	no	missense	MUC17	NM_001040105.1	145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	1801/4494	100680099	2,13004	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680099C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5402C>T	7.37:g.100680099C>T	ENSP00000302716:p.Ser1801Leu						p.S1801L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5466	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1801			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5402C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	6.542	0.468344	0.12461	4.54E-4	0.0	ENSG00000169876	ENST00000306151	T	0.02015	4.5	0.726	0.726	0.18248	.	.	.	.	.	T	0.02571	0.0078	N	0.14661	0.345	0.09310	N	0.999998	D	0.61697	0.99	P	0.56474	0.799	T	0.52109	-0.8619	9	0.24483	T	0.36	.	4.8663	0.13609	0.0:1.0:0.0:0.0	.	1801	Q685J3	MUC17_HUMAN	L	1801	ENSP00000302716:S1801L	ENSP00000302716:S1801L	S	+	2	0	MUC17	100466819	0.001000	0.12720	0.008000	0.14137	0.015000	0.08874	1.361000	0.34136	0.716000	0.32124	0.134000	0.15878	TCG		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		72	672	0	0	0	1	0	72	672				
OR2A12	346525	broad.mit.edu	37	7	143792960	143792960	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:143792960G>A	ENST00000408949.2	+	1	820	c.760G>A	c.(760-762)Gcc>Acc	p.A254T		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTTTGGCAGCGCCATTGTCAT	0.562																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(760-762)Gcc>Acc		olfactory receptor, family 2, subfamily A, member 12							143.0	139.0	140.0					7																	143792960		1926	4146	6072	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792960G>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.760G>A	7.37:g.143792960G>A	ENSP00000386174:p.Ala254Thr						p.A254T	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	820	+	Melanoma(164;0.0783)		254					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.760G>A	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141922	0.37825	.	.	ENSG00000221858	ENST00000408949	T	0.00169	8.63	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	L	0.49699	1.58	0.25415	N	0.988322	D	0.54964	0.969	P	0.51385	0.668	T	0.57051	-0.7877	9	0.66056	D	0.02	-14.278	8.0494	0.30568	0.1096:0.0:0.8903:0.0	.	254	Q8NGT7	O2A12_HUMAN	T	254	ENSP00000386174:A254T	ENSP00000386174:A254T	A	+	1	0	OR2A12	143423893	0.006000	0.16342	0.969000	0.41365	0.098000	0.18820	1.204000	0.32296	2.241000	0.73720	0.505000	0.49811	GCC		0.562	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			56	407	0	0	0	1	0	56	407				
INPP5A	3632	broad.mit.edu	37	10	134523946	134523946	+	Silent	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:134523946C>T	ENST00000368594.3	+	8	910	c.633C>T	c.(631-633)ggC>ggT	p.G211G	INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Silent_p.G211G	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	211					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGGCACTGGGCTACGTGCtgg	0.597																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(631-633)ggC>ggT		inositol polyphosphate-5-phosphatase, 40kDa							69.0	53.0	59.0					10																	134523946		2203	4300	6503	SO:0001819	synonymous_variant	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134523946C>T	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.633C>T	10.37:g.134523946C>T						INPP5A_ENST00000368593.3_Silent_p.G211G|INPP5A_ENST00000487614.1_3'UTR	p.G211G	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	8	910	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	211					D3DXI3|Q14640|Q5JSF1	Silent	SNP	ENST00000368594.3	37	c.633C>T	CCDS7669.2																																																																																				0.597	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		10	65	0	0	0	1	0	10	65				
KBTBD13	390594	broad.mit.edu	37	15	65369306	65369306	+	Silent	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:65369306C>T	ENST00000432196.2	+	1	153	c.153C>T	c.(151-153)ggC>ggT	p.G51G	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	51	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						TGCGCCTGGGCGTTCTGAGCG	0.736																																						ENST00000432196.2																			0				lung(1)|prostate(1)|skin(1)	3						c.(151-153)ggC>ggT		kelch repeat and BTB (POZ) domain containing 13							6.0	7.0	7.0					15																	65369306		1831	3954	5785	SO:0001819	synonymous_variant	390594					cytoplasm		g.chr15:65369306C>T		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"""BTB/POZ domain containing"""	37227	protein-coding gene	gene with protein product	"""nemaline myopathy type 6"""	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.153C>T	15.37:g.65369306C>T							p.G51G	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN			1	153	+			51			BTB.			Silent	SNP	ENST00000432196.2	37	c.153C>T	CCDS45281.1																																																																																				0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		4	7	0	0	0	1	0	4	7				
ARNT	405	broad.mit.edu	37	1	150801696	150801696	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:150801696C>G	ENST00000358595.5	-	12	1240	c.1040G>C	c.(1039-1041)aGt>aCt	p.S347T	ARNT_ENST00000515192.1_Missense_Mutation_p.S333T|ARNT_ENST00000505755.1_Missense_Mutation_p.S332T|ARNT_ENST00000354396.2_Missense_Mutation_p.S347T|ARNT_ENST00000468970.1_5'Flank	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	347					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTGGGAGAACTAGTTACCTG	0.383			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(1039-1041)aGt>aCt		aryl hydrocarbon receptor nuclear translocator							148.0	137.0	141.0					1																	150801696		2203	4300	6503	SO:0001583	missense	0				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150801696C>G	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1040G>C	1.37:g.150801696C>G	ENSP00000351407:p.Ser347Thr					ARNT_ENST00000515192.1_Missense_Mutation_p.S333T|ARNT_ENST00000505755.1_Missense_Mutation_p.S332T|ARNT_ENST00000354396.2_Missense_Mutation_p.S347T	p.S347T	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		12	1240	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		347					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.1040G>C	CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682314	0.68042	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.05513	3.54;3.54;3.58;3.43	5.28	5.28	0.74379	.	3.924840	0.01135	N	0.006079	T	0.06690	0.0171	L	0.58302	1.8	0.80722	D	1	P;P;B;B;B;B;B	0.37914	0.469;0.611;0.258;0.011;0.011;0.024;0.258	B;B;B;B;B;B;B	0.35550	0.205;0.135;0.135;0.023;0.023;0.023;0.085	T	0.49799	-0.8901	10	0.40728	T	0.16	.	18.9089	0.92474	0.0:1.0:0.0:0.0	.	331;347;332;347;333;332;347	B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;.;ARNT_HUMAN	T	347;347;347;333;331;332	ENSP00000351407:S347T;ENSP00000346372:S347T;ENSP00000423851:S333T;ENSP00000427571:S332T	ENSP00000346372:S347T	S	-	2	0	ARNT	149068320	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.473000	0.83533	0.655000	0.94253	AGT		0.383	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			7	172	0	0	0	1	0	7	172				
RSF1	51773	broad.mit.edu	37	11	77413493	77413493	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:77413493C>T	ENST00000308488.6	-	6	1083	c.781G>A	c.(781-783)Gat>Aat	p.D261N	RSF1_ENST00000360355.2_Missense_Mutation_p.D230N|RSF1_ENST00000480887.1_Missense_Mutation_p.D9N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	261	Glu-rich.				CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTTTCTAAATCCATAGGCTGC	0.338																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(781-783)Gat>Aat		remodeling and spacing factor 1							52.0	59.0	56.0					11																	77413493		2164	4135	6299	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77413493C>T	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.781G>A	11.37:g.77413493C>T	ENSP00000311513:p.Asp261Asn					RSF1_ENST00000360355.2_Missense_Mutation_p.D230N|RSF1_ENST00000480887.1_Missense_Mutation_p.D9N	p.D261N			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	1083	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		261			Glu-rich.		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.781G>A	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273262	0.23221	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.88124	-2.18;-2.27;-2.31;-2.34;1.29	5.1	3.23	0.37069	.	0.337088	0.25584	N	0.029677	T	0.81422	0.4819	L	0.51422	1.61	0.27022	N	0.96446	B	0.09022	0.002	B	0.08055	0.003	T	0.72064	-0.4403	10	0.51188	T	0.08	-7.2333	7.523	0.27639	0.0:0.7086:0.1375:0.1539	.	261	Q96T23	RSF1_HUMAN	N	261;9;230;62;260	ENSP00000311513:D261N;ENSP00000434509:D9N;ENSP00000353511:D230N;ENSP00000432022:D62N;ENSP00000436408:D260N	ENSP00000311513:D261N	D	-	1	0	RSF1	77091141	0.040000	0.19996	0.327000	0.25402	0.012000	0.07955	0.185000	0.16958	0.732000	0.32470	0.655000	0.94253	GAT		0.338	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		75	152	0	0	0	1	0	75	152				
RAPGEF6	51735	broad.mit.edu	37	5	130766860	130766860	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:130766860T>A	ENST00000509018.1	-	26	4362	c.4157A>T	c.(4156-4158)gAt>gTt	p.D1386V	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.D1394V|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.D1436V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D1394V|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.D1399V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1386	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTTCAAAAAATCCCAGCTTTT	0.453																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4156-4158)gAt>gTt		Rap guanine nucleotide exchange factor (GEF) 6							109.0	113.0	111.0					5																	130766860		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130766860T>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4157A>T	5.37:g.130766860T>A	ENSP00000421684:p.Asp1386Val					RAPGEF6_ENST00000307984.5_Missense_Mutation_p.D1399V|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.D1394V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D1394V|FNIP1_ENST00000514667.1_Missense_Mutation_p.D1436V	p.D1386V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	26	4362	-			1386			Ser-rich.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.4157A>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.295059	0.81025	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.30981	1.62;1.51;1.51;1.62;1.71	5.11	5.11	0.69529	.	0.306075	0.36482	N	0.002563	T	0.45915	0.1366	M	0.65975	2.015	0.80722	D	1	B;B;P;B;P	0.44044	0.021;0.021;0.825;0.036;0.566	B;B;P;B;P	0.50896	0.06;0.06;0.653;0.088;0.529	T	0.49204	-0.8964	10	0.87932	D	0	.	15.2054	0.73175	0.0:0.0:0.0:1.0	.	1394;1394;1436;1399;1386	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	V	1386;1399;1394;1394;1399;1436	ENSP00000421684:D1386V;ENSP00000309298:D1399V;ENSP00000426081:D1394V;ENSP00000296859:D1394V;ENSP00000426948:D1436V	ENSP00000426948:D1436V	D	-	2	0	RAPGEF6;FNIP1	130794759	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.022000	0.76431	2.064000	0.61679	0.533000	0.62120	GAT		0.453	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		9	201	0	0	0	1	0	9	201				
TMEM183A	92703	broad.mit.edu	37	1	202992124	202992125	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:202992124_202992125delTT	ENST00000367242.3	+	8	1167_1168	c.1087_1088delTT	c.(1087-1089)tttfs	p.F363fs		NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	363						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			CGTTCGGCTCTTTGACTGGTGG	0.545																																						ENST00000367242.3																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7						c.(1087-1089)tfs		transmembrane protein 183A																																				SO:0001589	frameshift_variant	92703							g.chr1:202992124_202992125delTT	BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 37"""	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.1087_1088delTT	1.37:g.202992124_202992125delTT	ENSP00000356211:p.Phe363fs						p.F363fs	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			BRCA - Breast invasive adenocarcinoma(75;0.18)		8	1167_1168	+								A8K5W1|Q6NW15|Q96E06	Frame_Shift_Del	DEL	ENST00000367242.3	37	c.1087_1088delTT	CCDS1432.1																																																																																				0.545	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100129.1	NM_138391		12	96						12	96	---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235345318	235345319	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:235345318_235345319delCA	ENST00000264183.3	-	20	3412_3413	c.2915_2916delTG	c.(2914-2916)gtgfs	p.V972fs	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.V886fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.V972fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	972					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CCTCTTCAGCCACAGTCTGCAG	0.5																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(2914-2916)gfs		AT rich interactive domain 4B (RBP1-like)																																				SO:0001589	frameshift_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345318_235345319delCA	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2915_2916delTG	1.37:g.235345320_235345321delCA	ENSP00000264183:p.Val972fs					ARID4B_ENST00000366603.2_Frame_Shift_Del_p.V972fs|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.V886fs	p.V972fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3412_3413	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	972					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	ENST00000264183.3	37	c.2915_2916delTG	CCDS31061.1																																																																																				0.500	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		104	226						104	226	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37241030	37241033	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:37241030_37241033delCTCT	ENST00000233099.5	-	27	4330_4333	c.4235_4238delAGAG	c.(4234-4239)gagagtfs	p.ES1412fs	HEATR5B_ENST00000354531.2_Frame_Shift_Del_p.ES1412fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1412						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GGTCGTGGCACTCTCTCGGTACAG	0.451																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(4234-4239)gtfs		HEAT repeat containing 5B																																				SO:0001589	frameshift_variant	54497						binding	g.chr2:37241030_37241033delCTCT	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4235_4238delAGAG	2.37:g.37241030_37241033delCTCT	ENSP00000233099:p.Glu1412fs					HEATR5B_ENST00000354531.2_Frame_Shift_Del_p.ES1412fs	p.ES1412fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			27	4330_4333	-		all_hematologic(82;0.21)	1412					B5MDU8|Q7Z3B2|Q9NVL7	Frame_Shift_Del	DEL	ENST00000233099.5	37	c.4235_4238delAGAG	CCDS33181.1																																																																																				0.451	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		74	187						74	187	---	---	---	---
INO80B	83444	broad.mit.edu	37	2	74683365	74683367	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:74683365_74683367delAGG	ENST00000233331.7	+	4	600_602	c.506_508delAGG	c.(505-510)aaggag>aag	p.E170del	WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000393972.3_5'Flank|INO80B_ENST00000469849.1_3'UTR|INO80B_ENST00000409917.1_In_Frame_Del_p.E170del|WBP1_ENST00000409737.1_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	170					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GACCTCAAGAAGGAGATCAATGA	0.517																																						ENST00000233331.7																			0				endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						c.(505-510)aag>a		INO80 complex subunit B																																				SO:0001651	inframe_deletion	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74683365_74683367delAGG	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.506_508delAGG	2.37:g.74683365_74683367delAGG	ENSP00000233331:p.Glu170del					INO80B_ENST00000409917.1_In_Frame_Del_p.KE169del|INO80B_ENST00000469849.1_3'UTR	p.KE169del	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN			4	600_602	+			169						In_Frame_Del	DEL	ENST00000233331.7	37	c.506_508delAGG	CCDS1942.2																																																																																				0.517	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		10	139						10	139	---	---	---	---
INSIG2	51141	broad.mit.edu	37	2	118865866	118865867	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:118865866_118865867delAA	ENST00000245787.4	+	6	852_853	c.646_647delAA	c.(646-648)aaafs	p.K216fs	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	216					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GTACGAATGTAAAGTTATCGCA	0.302																																						ENST00000245787.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(646-648)afs		insulin induced gene 2																																				SO:0001589	frameshift_variant	51141				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		g.chr2:118865866_118865867delAA	AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.646_647delAA	2.37:g.118865866_118865867delAA	ENSP00000245787:p.Lys216fs					INSIG2_ENST00000485520.1_3'UTR	p.K216fs	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN			6	852_853	+			216					A8K5W8|Q8TBI8	Frame_Shift_Del	DEL	ENST00000245787.4	37	c.646_647delAA	CCDS2122.1																																																																																				0.302	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133		15	161						15	161	---	---	---	---
ITM2C	81618	broad.mit.edu	37	2	231729747	231729747	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:231729747delA	ENST00000326427.6	+	1	133	c.7delA	c.(7-9)aagfs	p.K3fs	ITM2C_ENST00000335005.6_Frame_Shift_Del_p.K3fs|ITM2C_ENST00000326407.6_Frame_Shift_Del_p.K3fs|ITM2C_ENST00000409704.2_5'Flank	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	3					negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGCCATGGTGAAGATTAGCTT	0.716																																						ENST00000326427.6																			0				cervix(2)|lung(1)|ovary(1)|skin(1)	5						c.(7-9)agfs		integral membrane protein 2C							6.0	7.0	7.0					2																	231729747		2104	4159	6263	SO:0001589	frameshift_variant	81618				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding	g.chr2:231729747delA	AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"""BRICHOS domain containing"""	6175	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2C"""	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.7delA	2.37:g.231729747delA	ENSP00000322730:p.Lys3fs					ITM2C_ENST00000326407.6_Frame_Shift_Del_p.K3fs|ITM2C_ENST00000335005.6_Frame_Shift_Del_p.K3fs	p.K3fs	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	1	133	+		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	3					B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Frame_Shift_Del	DEL	ENST00000326427.6	37	c.7delA	CCDS2479.1																																																																																				0.716	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		2	4						2	4	---	---	---	---
ZNF80	7634	broad.mit.edu	37	3	113951738	113951739	+	IGR	INS	-	-	C	rs60004852|rs398052210|rs377674793|rs71633344	byFrequency	TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:113951738_113951739insC	ENST00000482457.2	-	0	2939				RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACTGCCCCCTGCCCCCCCCCCA	0.653																																					GBM(23;986 1114 21716)	ENST00000493033.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:113951738_113951739insC	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332		3.37:g.113951748_113951748dupC						RP11-553L6.2_ENST00000481773.1_RNA								0	160	+								Q6NSW4|Q6NT14	RNA	INS	ENST00000482457.2	37		CCDS2979.1																																																																																				0.653	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		2	4						2	4	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114058228	114058230	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:114058228_114058230delAAG	ENST00000474710.1	-	5	2026_2028	c.1848_1850delCTT	c.(1846-1851)tcctta>tca	p.L617del	ZBTB20_ENST00000464560.1_In_Frame_Del_p.L544del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.L544del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.L544del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.L544del|ZBTB20_ENST00000462705.1_In_Frame_Del_p.L544del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.L544del	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	617						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAATCCTTTAAGGAGAAGGAGC	0.507																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1627-1632)tca>tc		zinc finger and BTB domain containing 20																																				SO:0001651	inframe_deletion	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058228_114058230delAAG	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1848_1850delCTT	3.37:g.114058228_114058230delAAG	ENSP00000419153:p.Leu617del					ZBTB20_ENST00000393785.2_In_Frame_Del_p.SL543del|ZBTB20_ENST00000464560.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000474710.1_In_Frame_Del_p.SL616del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.SL543del	p.SL543del	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2450_2452	-			616	S -> F (in Ref. 5; AAH29041).				Q63HP6|Q8N6R5|Q9Y410	In_Frame_Del	DEL	ENST00000474710.1	37	c.1629_1631delCTT	CCDS54626.1																																																																																				0.507	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		59	93						59	93	---	---	---	---
RBPJ	3516	broad.mit.edu	37	4	26426019	26426022	+	Frame_Shift_Del	DEL	AGTT	AGTT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:26426019_26426022delAGTT	ENST00000361572.6	+	6	785_788	c.591_594delAGTT	c.(589-594)acagttfs	p.TV197fs	RBPJ_ENST00000355476.3_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.TV197fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.TV184fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.TV182fs|RBPJ_ENST00000342320.4_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.TV162fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	197					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GATCCCAGACAGTTAGTACCAGAT	0.412																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(547-552)acfs		recombination signal binding protein for immunoglobulin kappa J region																																				SO:0001589	frameshift_variant	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26426019_26426022delAGTT	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.591_594delAGTT	4.37:g.26426019_26426022delAGTT	ENSP00000354528:p.Thr197fs					RBPJ_ENST00000504907.1_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.TV182fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.TV197fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.TV162fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.TV197fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.TV184fs	p.TV183fs			Q06330	SUH_HUMAN			6	725_728	+		Breast(46;0.0503)	197					B4DY22|Q5XKH9|Q6P1N3	Frame_Shift_Del	DEL	ENST00000361572.6	37	c.549_552delAGTT	CCDS3437.1																																																																																				0.412	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		29	152						29	152	---	---	---	---
SMAD1	4086	broad.mit.edu	37	4	146474982	146474983	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:146474982_146474983insA	ENST00000515385.1	+	6	1586_1587	c.1044_1045insA	c.(1045-1047)agtfs	p.S349fs	SMAD1_ENST00000302085.4_Frame_Shift_Ins_p.S349fs|SMAD1_ENST00000394092.2_Frame_Shift_Ins_p.S349fs			Q15797	SMAD1_HUMAN	SMAD family member 1	349	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CCGAATGCCTTAGTGACAGTAG	0.391																																					Pancreas(182;1287 2092 10326 35158 50562)	ENST00000515385.1																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(1042-1047)ctgtgafs		SMAD family member 1																																				SO:0001589	frameshift_variant	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146474982_146474983insA	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.1045dupA	4.37:g.146474983_146474983dupA	ENSP00000426568:p.Ser349fs					SMAD1_ENST00000302085.4_Frame_Shift_Ins_p.*349fs|SMAD1_ENST00000394092.2_Frame_Shift_Ins_p.*349fs	p.*349fs			Q15797	SMAD1_HUMAN			6	1586_1587	+	all_hematologic(180;0.151)		349			MH2.		A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Frame_Shift_Ins	INS	ENST00000515385.1	37	c.1044_1045insA	CCDS3765.1																																																																																				0.391	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		12	189						12	189	---	---	---	---
DHX29	54505	broad.mit.edu	37	5	54585244	54585245	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:54585244_54585245delAA	ENST00000251636.5	-	8	1067_1068	c.919_920delTT	c.(919-921)ttafs	p.L307fs	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	307						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATGGTCTTCTAAAGTTTCCATT	0.292																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(919-921)afs		DEAH (Asp-Glu-Ala-His) box polypeptide 29																																				SO:0001589	frameshift_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54585244_54585245delAA	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.919_920delTT	5.37:g.54585244_54585245delAA	ENSP00000251636:p.Leu307fs					RP11-506H20.1_ENST00000506435.1_RNA	p.L307fs	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			8	1067_1068	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	307					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Frame_Shift_Del	DEL	ENST00000251636.5	37	c.919_920delTT	CCDS34158.1																																																																																				0.292	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		21	105						21	105	---	---	---	---
C5orf24	134553	broad.mit.edu	37	5	134190831	134190833	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:134190831_134190833delAAG	ENST00000394976.3	+	2	469_471	c.241_243delAAG	c.(241-243)aagdel	p.K82del	C5orf24_ENST00000338051.4_In_Frame_Del_p.K82del|C5orf24_ENST00000504727.1_In_Frame_Del_p.K82del|C5orf24_ENST00000435259.2_In_Frame_Del_p.K82del	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	82								p.K81N(1)		breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTAAAGAAAAAGAAGAATCTCA	0.478																																						ENST00000394976.3																			1	Substitution - Missense(1)	p.K81N(1)	breast(1)	breast(2)|endometrium(2)|lung(2)	6						c.(241-243)del		chromosome 5 open reading frame 24																																				SO:0001651	inframe_deletion	134553							g.chr5:134190831_134190833delAAG	BC053677	CCDS4179.1, CCDS75307.1	5q31.1	2008-02-05			ENSG00000181904	ENSG00000181904			26746	protein-coding gene	gene with protein product						12477932	Standard	NM_152409		Approved	FLJ37562	uc003kzz.3	Q7Z6I8	OTTHUMG00000129121	ENST00000394976.3:c.241_243delAAG	5.37:g.134190834_134190836delAAG	ENSP00000378427:p.Lys82del					C5orf24_ENST00000435259.2_In_Frame_Del_p.K82del|C5orf24_ENST00000338051.4_In_Frame_Del_p.K82del|C5orf24_ENST00000504727.1_In_Frame_Del_p.K82del	p.K82del	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	469_471	+			82					D3DQA7|Q86Y53|Q8N1T9	In_Frame_Del	DEL	ENST00000394976.3	37	c.241_243delAAG	CCDS4179.1																																																																																				0.478	C5orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251167.1	NM_152409		59	106						59	106	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590356	140590356	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:140590356delC	ENST00000239450.2	+	1	2066	c.1877delC	c.(1876-1878)accfs	p.T626fs	PCDHB12_ENST00000541609.1_Frame_Shift_Del_p.T289fs	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	626	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGTGCGCACCGCCAGGCTG	0.701																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1876-1878)acfs									7.0	10.0	9.0					5																	140590356		1600	3284	4884	SO:0001589	frameshift_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590356delC	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1877delC	5.37:g.140590356delC	ENSP00000239450:p.Thr626fs					PCDHB12_ENST00000541609.1_Frame_Shift_Del_p.T289fs	p.T626fs	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2066	+			626			Cadherin 6.		B4DDU1	Frame_Shift_Del	DEL	ENST00000239450.2	37	c.1877delC	CCDS4254.1																																																																																				0.701	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		20	198						20	198	---	---	---	---
RGL2	5863	broad.mit.edu	37	6	33266242	33266244	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr6:33266242_33266244delTCC	ENST00000497454.1	-	2	639_641	c.144_146delGGA	c.(142-147)gaggaa>gaa	p.48_49EE>E	RGL2_ENST00000444031.2_Intron|RGL2_ENST00000437840.2_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	48					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ctcttcttcttcctcctcctctt	0.631																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(142-147)gaa>ga		ral guanine nucleotide dissociation stimulator-like 2																																				SO:0001651	inframe_deletion	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33266242_33266244delTCC		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.144_146delGGA	6.37:g.33266248_33266250delTCC	ENSP00000420211:p.Glu52del					RGL2_ENST00000444031.2_Intron|RGL2_ENST00000437840.2_Intron	p.EE50del	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			2	639_641	-			50					B4DG72|Q5STK0|Q9Y3F3	In_Frame_Del	DEL	ENST00000497454.1	37	c.144_146delGGA	CCDS4774.1																																																																																				0.631	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			6	6						6	6	---	---	---	---
ZNF76	7629	broad.mit.edu	37	6	35258096	35258097	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr6:35258096_35258097insA	ENST00000373953.3	+	6	752_753	c.486_487insA	c.(487-489)agafs	p.R163fs	ZNF76_ENST00000440666.2_Frame_Shift_Ins_p.R137fs|ZNF76_ENST00000339411.5_Frame_Shift_Ins_p.R163fs	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	163					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						AAGTTGGAGACAGAGCATTCCG	0.525																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(484-489)gagagcfs		zinc finger protein 76																																				SO:0001589	frameshift_variant	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35258096_35258097insA	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.487dupA	6.37:g.35258097_35258097dupA	ENSP00000363064:p.Arg163fs					ZNF76_ENST00000440666.2_Frame_Shift_Ins_p.S137fs|ZNF76_ENST00000339411.5_Frame_Shift_Ins_p.S163fs	p.S163fs	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			6	752_753	+			163					Q9BQB2	Frame_Shift_Ins	INS	ENST00000373953.3	37	c.486_487insA	CCDS4801.1																																																																																				0.525	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		15	519						15	519	---	---	---	---
BSNDP4	106481726	broad.mit.edu	37	7	57698565	57698566	+	RNA	INS	-	-	TGGG	rs367832782		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:57698565_57698566insTGGG	ENST00000605139.1	-	0	416																											CACAGGAGACCTGGGCTGCAGG	0.584																																						ENST00000605139.1																			0																																																			0							g.chr7:57698565_57698566insTGGG																													7.37:g.57698566_57698569dupTGGG														0	416	-									RNA	INS	ENST00000605139.1	37																																																																																						0.584	RP11-368M16.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000468775.1			2	4						2	4	---	---	---	---
TRIM73	375593	broad.mit.edu	37	7	75028510	75028510	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:75028510delT	ENST00000437796.1	+	1	312	c.293delT	c.(292-294)cttfs	p.L98fs	TRIM73_ENST00000447409.2_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000450434.1_5'UTR|TRIM73_ENST00000323819.3_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000430211.1_Frame_Shift_Del_p.L98fs			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	98						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CCGCTCAGCCTTTTCTGCGAG	0.667																																						ENST00000323819.3																			0				endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(292-294)ctfs		tripartite motif containing 73							5.0	14.0	12.0					7																	75028510		821	2254	3075	SO:0001589	frameshift_variant	0					intracellular	zinc ion binding	g.chr7:75028510delT	AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18162	protein-coding gene	gene with protein product		612549	"""tripartite motif-containing 50B"", ""tripartite motif-containing 73"""	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.293delT	7.37:g.75028510delT	ENSP00000417040:p.Leu98fs					TRIM73_ENST00000447409.2_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000430211.1_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000437796.1_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000450434.1_5'UTR	p.L98fs	NM_198924.2	NP_944606.2	Q86UV6	TRI74_HUMAN			2	493	+			98					Q8N0S3	Frame_Shift_Del	DEL	ENST00000437796.1	37	c.293delT	CCDS34665.1																																																																																				0.667	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342950.1			2	4						2	4	---	---	---	---
TYRP1	7306	broad.mit.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-	rs387906562|rs369807922		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism																													ENST00000388918.5																			2	Deletion - Frameshift(2)	p.N353fs*31(2)	NS(1)|lung(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22	GRCh37	CD085016	TYRP1	D		c.(1054-1059)acfs		tyrosinase-related protein 1																																				SO:0001589	frameshift_variant	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12702411_12702414delACAA	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1054_1057delACAA	9.37:g.12702411_12702414delACAA	ENSP00000373570:p.Thr352fs					RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs	p.TN352fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	5	1183_1186	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	352					P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	ENST00000388918.5	37	c.1054_1057delACAA	CCDS34990.1																																																																																				0.387	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		10	91						10	91	---	---	---	---
RPS3	6188	broad.mit.edu	37	11	75115087	75115089	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:75115087_75115089delTCA	ENST00000531188.1	+	5	436_438	c.374_376delTCA	c.(373-378)ttcatc>ttc	p.I126del	RPS3_ENST00000278572.6_In_Frame_Del_p.I142del|SNORD15B_ENST00000384714.1_RNA|RPS3_ENST00000524851.1_In_Frame_Del_p.I126del|RPS3_ENST00000527446.1_In_Frame_Del_p.I126del|RPS3_ENST00000526608.1_In_Frame_Del_p.I114del|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000534440.1_Intron	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	126					cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GTGCTGCGGTTCATCATGGAGAG	0.488																																						ENST00000531188.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(373-378)ttc>t		ribosomal protein S3																																				SO:0001651	inframe_deletion	6188				activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome	g.chr11:75115087_75115089delTCA		CCDS8236.1, CCDS58161.1	11q13.3-q13.5	2011-04-05				ENSG00000149273		"""S ribosomal proteins"""	10420	protein-coding gene	gene with protein product	"""IMR-90 ribosomal protein S3"", ""40S ribosomal protein S3"""	600454				1712897, 7789996	Standard	NM_001005		Approved	FLJ26283, FLJ27450, MGC87870, S3	uc031qcs.1	P23396		ENST00000531188.1:c.374_376delTCA	11.37:g.75115090_75115092delTCA	ENSP00000434643:p.Ile126del					RPS3_ENST00000526608.1_In_Frame_Del_p.FI113del|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000527446.1_In_Frame_Del_p.FI125del|RPS3_ENST00000524851.1_In_Frame_Del_p.FI125del|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000278572.6_In_Frame_Del_p.FI141del	p.FI125del	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN			5	436_438	+			125					B2R7N5|J3KN86|Q498B5|Q8NI95	In_Frame_Del	DEL	ENST00000531188.1	37	c.374_376delTCA	CCDS8236.1																																																																																				0.488	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2	NM_001005		7	182						7	182	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49424957	49424959	+	Splice_Site	DEL	CCT	CCT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:49424957_49424959delCCT	ENST00000301067.7	-	39	13528_13530	c.13529_13531delAGG	c.(13528-13533)gaggat>gat	p.E4510del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4510					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGAGTACTCACCTCCTTGTTGCT	0.606																																						ENST00000301067.7																			0											c.e39+1		lysine (K)-specific methyltransferase 2D																																				SO:0001630	splice_region_variant	8085							g.chr12:49424957_49424959delCCT	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13530+1AGG>-	12.37:g.49424960_49424962delCCT							p.ED4510_splice	NM_003482.3	NP_003473.3					39	13528_13530	-								O14687	Splice_Site	DEL	ENST00000301067.7	37	c.13530_splice	CCDS44873.1																																																																																				0.606	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		In_Frame_Del	21	142						21	142	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112605711	112605714	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:112605711_112605714delGAAA	ENST00000430131.2	-	70	12095_12098	c.10950_10953delTTTC	c.(10948-10953)tctttcfs	p.SF3650fs	HECTD4_ENST00000377560.5_Frame_Shift_Del_p.SF3900fs|HECTD4_ENST00000550722.1_Frame_Shift_Del_p.SF3926fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3650	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGAAGTGGCGGAAAGAGCCGCCTG	0.623																																						ENST00000550722.1																			0											c.(11776-11781)tcfs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112605711_112605714delGAAA	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10950_10953delTTTC	12.37:g.112605711_112605714delGAAA	ENSP00000404379:p.Ser3650fs					HECTD4_ENST00000430131.2_Frame_Shift_Del_p.SF3650fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.SF3900fs	p.SF3926fs	NM_001109662.3	NP_001103132.3					71	12173_12176	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Del	DEL	ENST00000430131.2	37	c.11778_11781delTTTC																																																																																					0.623	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		31	78						31	78	---	---	---	---
ABCB9	23457	broad.mit.edu	37	12	123466320	123466322	+	5'Flank	DEL	GAA	GAA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:123466320_123466322delGAA	ENST00000542678.1	-	0	0				ARL6IP4_ENST00000357866.4_In_Frame_Del_p.K116del|ARL6IP4_ENST00000453766.2_In_Frame_Del_p.K239del|ARL6IP4_ENST00000315580.5_In_Frame_Del_p.K247del|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000392435.2_In_Frame_Del_p.K228del|ARL6IP4_ENST00000454885.2_In_Frame_Del_p.K113del|ARL6IP4_ENST00000426960.2_In_Frame_Del_p.K105del|ARL6IP4_ENST00000439686.2_In_Frame_Del_p.K116del|ARL6IP4_ENST00000543566.1_In_Frame_Del_p.K228del|ARL6IP4_ENST00000412505.2_In_Frame_Del_p.K105del			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		ggaagaagctgaagaagaagggc	0.596																																					Ovarian(49;786 1333 9175 38236)	ENST00000315580.5																			0											c.(730-735)ctg>ct		ADP-ribosylation-like factor 6 interacting protein 4																																				SO:0001631	upstream_gene_variant	51329				RNA splicing	nucleus		g.chr12:123466320_123466322delGAA	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78			12.37:g.123466326_123466328delGAA	Exception_encountered					ARL6IP4_ENST00000412505.2_In_Frame_Del_p.LK102del|ARL6IP4_ENST00000543566.1_In_Frame_Del_p.LK225del|ARL6IP4_ENST00000392435.2_In_Frame_Del_p.LK225del|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000453766.2_In_Frame_Del_p.LK236del|ARL6IP4_ENST00000357866.4_In_Frame_Del_p.LK113del|ARL6IP4_ENST00000439686.2_In_Frame_Del_p.LK113del|ARL6IP4_ENST00000454885.2_In_Frame_Del_p.LK110del|ARL6IP4_ENST00000426960.2_In_Frame_Del_p.LK102del	p.LK244del			Q66PJ3	AR6P4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	3	1060_1062	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		244			Lys-rich.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	In_Frame_Del	DEL	ENST00000542678.1	37	c.732_734delGAA	CCDS9241.1																																																																																				0.596	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		5	5						5	5	---	---	---	---
KIF26A	26153	broad.mit.edu	37	14	104633229	104633231	+	In_Frame_Del	DEL	GAA	GAA	-	rs375705738		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr14:104633229_104633231delGAA	ENST00000423312.2	+	5	957_959	c.957_959delGAA	c.(955-960)aggaag>agg	p.K321del	KIF26A_ENST00000315264.7_In_Frame_Del_p.K182del	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	321					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTCCAAGAGGAAGAAGCCCCAC	0.704																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(538-543)agg>ag		kinesin family member 26A																																				SO:0001651	inframe_deletion	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104633229_104633231delGAA	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.957_959delGAA	14.37:g.104633232_104633234delGAA	ENSP00000388241:p.Lys321del					KIF26A_ENST00000423312.2_In_Frame_Del_p.RK319del	p.RK180del			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	4	918_920	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	319					Q8TAZ7|Q96GK3|Q9UFL3	In_Frame_Del	DEL	ENST00000423312.2	37	c.540_542delGAA	CCDS45171.1																																																																																				0.704	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			5	9						5	9	---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48053942	48053943	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:48053942_48053943delTT	ENST00000316364.5	+	7	971_972	c.532_533delTT	c.(532-534)tttfs	p.F178fs	SEMA6D_ENST00000358066.4_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000355997.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389428.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000558816.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000537942.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000536845.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389433.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000558014.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000354744.4_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389432.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389425.3_Frame_Shift_Del_p.F178fs	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	178	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTTGCCCTCTTTGCTGGTAAG	0.356																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(532-534)tfs		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D																																				SO:0001589	frameshift_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48053942_48053943delTT	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.532_533delTT	15.37:g.48053942_48053943delTT	ENSP00000324857:p.Phe178fs					SEMA6D_ENST00000389428.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000536845.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000558014.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000354744.4_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000537942.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389425.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000358066.4_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000355997.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389433.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000558816.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389432.2_Frame_Shift_Del_p.F178fs	p.F178fs	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	7	971_972	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	178			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Frame_Shift_Del	DEL	ENST00000316364.5	37	c.532_533delTT	CCDS32225.1																																																																																				0.356	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		18	166						18	166	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51772904	51772906	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:51772904_51772906delTCT	ENST00000251076.5	-	24	6684_6686	c.6397_6399delAGA	c.(6397-6399)agadel	p.R2133del	DMXL2_ENST00000449909.3_In_Frame_Del_p.R1497del|DMXL2_ENST00000543779.2_In_Frame_Del_p.R2133del|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2133						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGGCCTGCAATCTTCTTCTTTCT	0.433																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(6397-6399)del		Dmx-like 2																																				SO:0001651	inframe_deletion	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51772904_51772906delTCT	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6397_6399delAGA	15.37:g.51772910_51772912delTCT	ENSP00000251076:p.Arg2133del					RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_In_Frame_Del_p.R1497del|DMXL2_ENST00000543779.2_In_Frame_Del_p.R2133del	p.R2133del	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6684_6686	-			2133					B2RTR3|B7ZMH3|F5GWF1|O94938	In_Frame_Del	DEL	ENST00000251076.5	37	c.6397_6399delAGA	CCDS10141.1																																																																																				0.433	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		91	207						91	207	---	---	---	---
DNAJA4	55466	broad.mit.edu	37	15	78566734	78566736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:78566734_78566736delAGA	ENST00000394852.3	+	4	804_806	c.614_616delAGA	c.(613-618)gagaag>gag	p.K207del	DNAJA4_ENST00000394855.3_In_Frame_Del_p.K236del|DNAJA4_ENST00000446172.2_In_Frame_Del_p.K180del|DNAJA4_ENST00000343789.3_In_Frame_Del_p.K207del	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	207					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						GTGATCCGTGAGAAGAAGATTAT	0.576																																						ENST00000394855.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						c.(700-705)gag>g		DnaJ (Hsp40) homolog, subfamily A, member 4																																				SO:0001651	inframe_deletion	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78566734_78566736delAGA	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.614_616delAGA	15.37:g.78566740_78566742delAGA	ENSP00000378321:p.Lys207del					DNAJA4_ENST00000446172.2_In_Frame_Del_p.EK178del|DNAJA4_ENST00000394852.3_In_Frame_Del_p.EK205del|DNAJA4_ENST00000343789.3_In_Frame_Del_p.EK205del	p.EK234del	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN			5	929_931	+			205					E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	In_Frame_Del	DEL	ENST00000394852.3	37	c.701_703delAGA	CCDS45316.1																																																																																				0.576	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		35	72						35	72	---	---	---	---
ZKSCAN2	342357	broad.mit.edu	37	16	25268072	25268075	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr16:25268072_25268075delTCTT	ENST00000328086.7	-	1	1177_1180	c.374_377delAAGA	c.(373-378)aaagagfs	p.KE125fs		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	125	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTTCCAGTCTCTTTCTCCAAATG	0.475																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(373-378)agfs		zinc finger with KRAB and SCAN domains 2																																				SO:0001589	frameshift_variant	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25268072_25268075delTCTT	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.374_377delAAGA	16.37:g.25268072_25268075delTCTT	ENSP00000331626:p.Lys125fs						p.KE125fs	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	1	1177_1180	-			125			SCAN box.		A1L3B4|Q6ZN77	Frame_Shift_Del	DEL	ENST00000328086.7	37	c.374_377delAAGA	CCDS32410.1																																																																																				0.475	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		71	119						71	119	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76461496	76461499	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr16:76461496_76461499delAGTA	ENST00000476707.1	+	3	686	c.547delAGTA	c.(547-549)agt>gt	p.S184fs	CNTNAP4_ENST00000377504.4_Splice_Site_p.S180fs|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Splice_Site_p.S156fs|CNTNAP4_ENST00000307431.8_Splice_Site_p.S180fs			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	181					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATGTGCATACAGTAAGTGTTTGTT	0.392																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.e5+1		contactin associated protein-like 4																																				SO:0001630	splice_region_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76461496_76461499delAGTA	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.547+1AGTA>-	16.37:g.76461496_76461499delAGTA						CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Splice_Site_p.179_splice|CNTNAP4_ENST00000478060.1_Splice_Site_p.155_splice|CNTNAP4_ENST00000476707.1_Splice_Site_p.183_splice	p.179_splice	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			5	920	+			180					E9PFZ6|Q86YZ7	Splice_Site	DEL	ENST00000476707.1	37	c.535_splice																																																																																					0.392	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	Frame_Shift_Del	13	72						13	72	---	---	---	---
SLC47A2	146802	broad.mit.edu	37	17	19583320	19583322	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:19583320_19583322delCTG	ENST00000325411.5	-	16	1581_1583	c.1531_1533delCAG	c.(1531-1533)cagdel	p.Q511del	SLC47A2_ENST00000350657.5_In_Frame_Del_p.Q489del|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	511	Poly-Gln.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	TCTCTGCTCTCTGCTGCTGCTGC	0.502																																						ENST00000350657.5																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9						c.(1465-1467)del		solute carrier family 47 (multidrug and toxin extrusion), member 2																																				SO:0001651	inframe_deletion	146802					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19583320_19583322delCTG	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1531_1533delCAG	17.37:g.19583329_19583331delCTG	ENSP00000326671:p.Gln511del					SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_In_Frame_Del_p.Q511del	p.Q489del	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN			17	1639_1641	-	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)		511					A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	In_Frame_Del	DEL	ENST00000325411.5	37	c.1465_1467delCAG	CCDS11211.1																																																																																				0.502	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		8	138						8	138	---	---	---	---
DNAJC7	7266	broad.mit.edu	37	17	40133976	40133978	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:40133976_40133978delCTT	ENST00000457167.4	-	12	1515_1517	c.1279_1281delAAG	c.(1279-1281)aagdel	p.K427del	DNAJC7_ENST00000316603.7_In_Frame_Del_p.K371del|DNAJC7_ENST00000426588.3_In_Frame_Del_p.K371del	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	427	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CTTCCTTGAACTTCTTCTCCTCC	0.458																																					Colon(63;618 1117 8600 10857 19751)	ENST00000457167.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(1279-1281)del		DnaJ (Hsp40) homolog, subfamily C, member 7																																				SO:0001651	inframe_deletion	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40133976_40133978delCTT	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1279_1281delAAG	17.37:g.40133979_40133981delCTT	ENSP00000406463:p.Lys427del					DNAJC7_ENST00000316603.7_In_Frame_Del_p.K371del|DNAJC7_ENST00000426588.3_In_Frame_Del_p.K371del	p.K427del	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN			12	1515_1517	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)	427			J.		Q7Z784	In_Frame_Del	DEL	ENST00000457167.4	37	c.1279_1281delAAG	CCDS45677.1																																																																																				0.458	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			17	145						17	145	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56569912	56569913	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:56569912_56569913delCA	ENST00000323456.5	-	18	3493_3494	c.3369_3370delTG	c.(3367-3372)tgtgacfs	p.CD1123fs	MTMR4_ENST00000579925.1_Frame_Shift_Del_p.CD1066fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1123					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATTCACAGTCACAGTTATAGC	0.46																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(3367-3372)tgacfs		myotubularin related protein 4																																				SO:0001589	frameshift_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56569912_56569913delCA	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3369_3370delTG	17.37:g.56569914_56569915delCA	ENSP00000325285:p.Cys1123fs					MTMR4_ENST00000579925.1_Frame_Shift_Del_p.CD1066fs	p.CD1123fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			18	3493_3494	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1123					D3DTZ6|Q8IV27|Q9Y4D5	Frame_Shift_Del	DEL	ENST00000323456.5	37	c.3369_3370delTG	CCDS11608.1																																																																																				0.460	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		34	572						34	572	---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62238162	62238164	+	Splice_Site	DEL	CTT	CTT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:62238162_62238164delCTT	ENST00000583097.1	-	8	2973_2975	c.2801_2803delAAG	c.(2800-2805)gaaggt>ggt	p.E934del	TEX2_ENST00000258991.3_Splice_Site_p.E941del|TEX2_ENST00000584379.1_Splice_Site_p.E934del			Q8IWB9	TEX2_HUMAN	testis expressed 2	934					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCCCCTTACCCTTCTTTGCCAAT	0.458																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.e8+1		testis expressed 2																																				SO:0001630	splice_region_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62238162_62238164delCTT	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2804+1AAG>-	17.37:g.62238165_62238167delCTT						TEX2_ENST00000584379.1_Splice_Site_p.EG934_splice|TEX2_ENST00000583097.1_Splice_Site_p.EG934_splice	p.EG941_splice			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	8	2906_2908	-			934					Q6AHZ5|Q8N3L0|Q9C0C5	Splice_Site	DEL	ENST00000583097.1	37	c.2825_splice																																																																																					0.458	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469	In_Frame_Del	7	653						7	653	---	---	---	---
HAO1	54363	broad.mit.edu	37	20	7866234	7866234	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:7866234delC	ENST00000378789.3	-	7	1027	c.976delG	c.(976-978)gagfs	p.E326fs		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	326	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.E326*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACACCTTTCTCCCCCTAACCA	0.363																																						ENST00000378789.3																			1	Substitution - Nonsense(1)	p.E326*(1)	lung(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(976-978)agfs		hydroxyacid oxidase (glycolate oxidase) 1							103.0	90.0	95.0					20																	7866234		2203	4300	6503	SO:0001589	frameshift_variant	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7866234delC	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.976delG	20.37:g.7866234delC	ENSP00000368066:p.Glu326fs						p.E326fs	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			7	1027	-			326			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Frame_Shift_Del	DEL	ENST00000378789.3	37	c.976delG	CCDS13100.1																																																																																				0.363	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			8	110						8	110	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39932273	39932274	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chrX:39932273_39932274insT	ENST00000378444.4	-	4	2553_2554	c.2325_2326insA	c.(2323-2328)ttacatfs	p.H776fs	BCOR_ENST00000378455.4_Frame_Shift_Ins_p.H776fs|BCOR_ENST00000342274.4_Frame_Shift_Ins_p.H776fs|BCOR_ENST00000397354.3_Frame_Shift_Ins_p.H776fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	776					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACATCTGGATGTAACTTGGTGC	0.515			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2323-2328)ttatccfs		BCL6 corepressor																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932273_39932274insT	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2326dupA	X.37:g.39932274_39932274dupT	ENSP00000367705:p.His776fs					BCOR_ENST00000397354.3_Frame_Shift_Ins_p.S776fs|BCOR_ENST00000378444.4_Frame_Shift_Ins_p.S776fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.S776fs	p.S776fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	2687_2688	-			776					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Ins	INS	ENST00000378444.4	37	c.2325_2326insA	CCDS48093.1																																																																																				0.515	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		55	225						55	225	---	---	---	---
