#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
S1PR5	53637	broad.mit.edu	37	19	10624929	10624929	+	Silent	SNP	G	G	C			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:10624929G>C	ENST00000439028.3	-	2	884	c.759C>G	c.(757-759)ctC>ctG	p.L253L	S1PR5_ENST00000333430.4_Silent_p.L253L	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	253					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	GCACCACGCTGAGCGTGCGCA	0.736																																						ENST00000439028.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						c.(757-759)ctC>ctG		sphingosine-1-phosphate receptor 5							17.0	16.0	16.0					19																	10624929		2186	4277	6463	SO:0001819	synonymous_variant	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10624929G>C	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.759C>G	19.37:g.10624929G>C						S1PR5_ENST00000333430.4_Silent_p.L253L	p.L253L	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN			2	884	-			253					Q6NW11	Silent	SNP	ENST00000439028.3	37	c.759C>G	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	G	5.493	0.275983	0.10403	.	.	ENSG00000180739	ENST00000359134	.	.	.	4.02	1.69	0.24217	.	.	.	.	.	T	0.61286	0.2335	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61063	-0.7138	5	0.51188	T	0.08	.	8.4684	0.32971	0.1086:0.1726:0.7188:0.0	.	.	.	.	E	222	.	ENSP00000352045:Q222E	Q	-	1	0	S1PR5	10485929	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	0.725000	0.25970	0.877000	0.35895	0.491000	0.48974	CAG		0.736	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		3	2	0	0	0	1	0	3	2				
SIRPG	55423	broad.mit.edu	37	20	1629815	1629815	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr20:1629815G>A	ENST00000303415.3	-	2	377	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	SIRPG_ENST00000216927.4_Missense_Mutation_p.R105C|SIRPG_ENST00000381583.2_Missense_Mutation_p.R105C|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.R72C|SIRPG_ENST00000344103.4_Missense_Mutation_p.R105C	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	105	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R105S(1)|p.R105C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTACTGATGCGGATGGAAAAG	0.483																																						ENST00000381580.1																			2	Substitution - Missense(2)	p.R105S(1)|p.R105C(1)	large_intestine(1)|lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(214-216)Cgc>Tgc		signal-regulatory protein gamma							311.0	256.0	275.0					20																	1629815		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629815G>A	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.313C>T	20.37:g.1629815G>A	ENSP00000305529:p.Arg105Cys					SIRPG_ENST00000381583.2_Missense_Mutation_p.R105C|SIRPG_ENST00000344103.4_Missense_Mutation_p.R105C|SIRPG_ENST00000216927.4_Missense_Mutation_p.R105C|SIRPG_ENST00000303415.3_Missense_Mutation_p.R105C	p.R72C			Q9P1W8	SIRPG_HUMAN			2	393	-			105			Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.214C>T	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	8.087	0.773762	0.16051	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	1.93	1.93	0.25924	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.198861	0.36167	N	0.002741	T	0.56746	0.2006	M	0.70903	2.155	0.53005	D	0.999969	P;P;P	0.39480	0.565;0.56;0.675	B;B;B	0.31946	0.083;0.083;0.138	T	0.61098	-0.7131	10	0.54805	T	0.06	.	7.3585	0.26733	0.0:0.0:1.0:0.0	.	105;105;105	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	C	72;105;105;105;105	ENSP00000370992:R72C;ENSP00000342759:R105C;ENSP00000305529:R105C;ENSP00000370995:R105C;ENSP00000216927:R105C	ENSP00000216927:R105C	R	-	1	0	SIRPG	1577815	0.625000	0.27111	0.991000	0.47740	0.346000	0.29079	0.286000	0.18902	1.392000	0.46585	0.195000	0.17529	CGC		0.483	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		5	86	0	0	0	1	0	5	86				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	64	0	0	0	1	0	4	64				
BAGE2	85319	broad.mit.edu	37	21	11038778	11038778	+	RNA	SNP	G	G	C			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr21:11038778G>C	ENST00000470054.1	-	0	1425							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAATAGCTGGTTTACCCATG	0.398																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038778G>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038778G>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1425	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.398	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	179	0	0	0	1	0	5	179				
GPATCH8	23131	broad.mit.edu	37	17	42476155	42476155	+	Missense_Mutation	SNP	A	A	C			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr17:42476155A>C	ENST00000591680.1	-	8	3320	c.3290T>G	c.(3289-3291)aTc>aGc	p.I1097S	GPATCH8_ENST00000434000.1_Missense_Mutation_p.I1019S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1097							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCTTGACTGGATCTTCTCCAG	0.532																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3055-3057)aTc>aGc		G patch domain containing 8							148.0	119.0	129.0					17																	42476155		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476155A>C	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3290T>G	17.37:g.42476155A>C	ENSP00000467556:p.Ile1097Ser					GPATCH8_ENST00000591680.1_Missense_Mutation_p.I1097S	p.I1019S			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	3338	-		Prostate(33;0.0181)	1097					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.3056T>G	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.773126	0.49680	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.13538	2.58	4.99	4.99	0.66335	.	0.119027	0.56097	D	0.000023	T	0.13841	0.0335	L	0.27053	0.805	0.53688	D	0.999972	D	0.54397	0.966	P	0.46479	0.518	T	0.03795	-1.1003	10	0.37606	T	0.19	-6.2699	14.8659	0.70416	1.0:0.0:0.0:0.0	.	1097	Q9UKJ3	GPTC8_HUMAN	S	1097;1019	ENSP00000395016:I1019S	ENSP00000335486:I1097S	I	-	2	0	GPATCH8	39831681	1.000000	0.71417	0.994000	0.49952	0.568000	0.35870	8.761000	0.91691	2.103000	0.63969	0.528000	0.53228	ATC		0.532	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		3	38	0	0	0	1	0	3	38				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			3	47	0	0	0	1	0	3	47				
IGHV3-43	28426	broad.mit.edu	37	14	106926411	106926411	+	RNA	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr14:106926411G>A	ENST00000434710.1	-	0	210									immunoglobulin heavy variable 3-43																		GGTGAATCCAGAGGCTGCACA	0.562																																						ENST00000434710.1																			0																				168.0	112.0	130.0					14																	106926411		1939	4123	6062			28426							g.chr14:106926411G>A	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926411G>A														0	210	-									RNA	SNP	ENST00000434710.1	37																																																																																						0.562	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		10	209	0	0	0	1	0	10	209				
AKAP8L	26993	broad.mit.edu	37	19	15508364	15508364	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:15508364G>A	ENST00000397410.5	-	11	1502	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	AKAP8L_ENST00000595465.2_Missense_Mutation_p.H397Y|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	458			H -> Q (in dbSNP:rs2058322). {ECO:0000269|PubMed:10748171, ECO:0000269|PubMed:10761695, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:19054851, ECO:0000269|PubMed:21269460, ECO:0000269|Ref.7}.			cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TAGATTTGGTGGATGAGGCCA	0.527																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1372-1374)Cac>Tac		A kinase (PRKA) anchor protein 8-like							134.0	132.0	132.0					19																	15508364		1991	4160	6151	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15508364G>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1372C>T	19.37:g.15508364G>A	ENSP00000380557:p.His458Tyr					AKAP8L_ENST00000595465.1_Missense_Mutation_p.H397Y	p.H458Y	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			11	1436	-			458	H -> Q (in Ref. 2; CAB65092, 3; AAF86048, 4; BAG70140/BAG70283, 6; EAW84475 and 7; AAH00713).				B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.1372C>T	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	g	7.974	0.749790	0.15778	.	.	ENSG00000011243	ENST00000397410	T	0.42513	0.97	5.26	5.26	0.73747	.	0.157953	0.47852	D	0.000218	T	0.25865	0.0630	N	0.08118	0	0.19945	N	0.999949	B	0.02656	0.0	B	0.04013	0.001	T	0.11324	-1.0592	10	0.31617	T	0.26	-6.9986	16.3943	0.83563	0.0:0.0:1.0:0.0	.	458	Q9ULX6	AKP8L_HUMAN	Y	458	ENSP00000380557:H458Y	ENSP00000380557:H458Y	H	-	1	0	AKAP8L	15369364	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.062000	0.64326	2.462000	0.83206	0.556000	0.70494	CAC		0.527	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		3	43	0	0	0	1	0	3	43				
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	3'UTR	SNP	G	G	C	rs5993363		TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18846025G>C																												ENST00000412938.1:c.*3380G>C	22.37:g.18846025G>C														0	3383	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	37	0	0	0	1	0	4	37				
ZNF536	9745	broad.mit.edu	37	19	30935484	30935484	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:30935484G>A	ENST00000355537.3	+	2	1162	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	339					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGGCGGTGGCGAGCAGTCGGC	0.647																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1015-1017)Gag>Aag		zinc finger protein 536							80.0	92.0	88.0					19																	30935484		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935484G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1015G>A	19.37:g.30935484G>A	ENSP00000347730:p.Glu339Lys						p.E339K	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1162	+	Esophageal squamous(110;0.0834)		339					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1015G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	8.501	0.864336	0.17250	.	.	ENSG00000198597	ENST00000355537	T	0.09445	2.98	5.59	4.54	0.55810	.	0.206144	0.46145	D	0.000303	T	0.13798	0.0334	L	0.48986	1.54	0.35881	D	0.828948	P;D	0.60575	0.93;0.988	B;B	0.43301	0.178;0.415	T	0.17899	-1.0354	10	0.44086	T	0.13	-36.7615	15.9085	0.79450	0.0:0.0:0.8636:0.1364	.	339;339	A7E228;O15090	.;ZN536_HUMAN	K	339	ENSP00000347730:E339K	ENSP00000347730:E339K	E	+	1	0	ZNF536	35627324	1.000000	0.71417	0.894000	0.35097	0.202000	0.24057	5.522000	0.67092	1.344000	0.45657	0.491000	0.48974	GAG		0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		4	99	0	0	0	1	0	4	99				
TMCC1	23023	broad.mit.edu	37	3	129389998	129389998	+	Missense_Mutation	SNP	C	C	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr3:129389998C>A	ENST00000393238.3	-	4	1026	c.686G>T	c.(685-687)cGc>cTc	p.R229L	TMCC1_ENST00000432054.2_5'UTR|TMCC1_ENST00000426664.2_Missense_Mutation_p.R115L|TMCC1_ENST00000329333.5_Missense_Mutation_p.R50L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	229						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGCCTTTGTGCGCTGAGGGTC	0.532																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(685-687)cGc>cTc		transmembrane and coiled-coil domain family 1							147.0	142.0	143.0					3																	129389998		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389998C>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.686G>T	3.37:g.129389998C>A	ENSP00000376930:p.Arg229Leu					TMCC1_ENST00000426664.2_Missense_Mutation_p.R115L|TMCC1_ENST00000329333.5_Missense_Mutation_p.R50L|TMCC1_ENST00000432054.2_5'UTR	p.R229L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			4	1026	-			229					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.686G>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934060	0.92458	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000329333	T;T;T	0.46819	0.86;0.86;0.86	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.80028	2.48	0.80722	D	1	D;P	0.55385	0.971;0.895	D;P	0.67725	0.953;0.65	T	0.72734	-0.4204	10	0.56958	D	0.05	-14.9558	19.8814	0.96900	0.0:1.0:0.0:0.0	.	50;229	B4DE04;O94876	.;TMCC1_HUMAN	L	229;115;50	ENSP00000376930:R229L;ENSP00000389892:R115L;ENSP00000327349:R50L	ENSP00000327349:R50L	R	-	2	0	TMCC1	130872688	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.745000	0.85046	2.778000	0.95560	0.591000	0.81541	CGC		0.532	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		4	96	1	0	0.00909568	1	0.00909568	4	96				
ILF3	3609	broad.mit.edu	37	19	10799870	10799870	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:10799870C>T	ENST00000590261.1	+	19	2567	c.2567C>T	c.(2566-2568)tCg>tTg	p.S856L	ILF3_ENST00000449870.1_Missense_Mutation_p.S860L|ILF3_ENST00000318511.3_Missense_Mutation_p.S856L|ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000588657.1_Missense_Mutation_p.S860L			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	856	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TACTCACAGTCGAACTACAAC	0.632																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2578-2580)tCg>tTg		interleukin enhancer binding factor 3, 90kDa							139.0	149.0	146.0					19																	10799870		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10799870C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2567C>T	19.37:g.10799870C>T	ENSP00000468156:p.Ser856Leu					ILF3_ENST00000588657.1_Missense_Mutation_p.S860L|ILF3_ENST00000318511.3_Missense_Mutation_p.S856L|ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000590261.1_Missense_Mutation_p.S856L	p.S860L	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		20	2896	+			856			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2579C>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936432	0.73442	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.26373	1.74;1.75	5.32	5.32	0.75619	.	0.205916	0.42548	D	0.000699	T	0.41949	0.1181	L	0.32530	0.975	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.72982	0.979;0.953	T	0.25641	-1.0126	10	0.87932	D	0	.	17.9328	0.89004	0.0:1.0:0.0:0.0	.	860;856	G5E9M5;Q12906	.;ILF3_HUMAN	L	860;856	ENSP00000404121:S860L;ENSP00000315205:S856L	ENSP00000315205:S856L	S	+	2	0	ILF3	10660870	1.000000	0.71417	0.963000	0.40424	0.990000	0.78478	6.495000	0.73665	2.767000	0.95098	0.655000	0.94253	TCG		0.632	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			12	166	0	0	0	1	0	12	166				
DNAH5	1767	broad.mit.edu	37	5	13793658	13793658	+	Silent	SNP	C	C	T			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr5:13793658C>T	ENST00000265104.4	-	49	8294	c.8190G>A	c.(8188-8190)acG>acA	p.T2730T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2730	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGAGGGCAACGTGCAATTAA	0.478									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(8188-8190)acG>acA		dynein, axonemal, heavy chain 5							136.0	139.0	138.0					5																	13793658		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13793658C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8190G>A	5.37:g.13793658C>T							p.T2730T	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			49	8294	-	Lung NSC(4;0.00476)		2730			AAA 3 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.8190G>A	CCDS3882.1																																																																																				0.478	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		10	92	0	0	0	1	0	10	92				
ZNF845	91664	broad.mit.edu	37	19	53848849	53848849	+	Missense_Mutation	SNP	G	G	T			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:53848849G>T	ENST00000595091.1	+	4	325	c.106G>T	c.(106-108)Gtg>Ttg	p.V36L	ZNF845_ENST00000458035.1_Missense_Mutation_p.V36L			Q96IR2	ZN845_HUMAN	zinc finger protein 845	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATACAGGGACGTGATGCTGGA	0.473																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(106-108)Gtg>Ttg		zinc finger protein 845							72.0	75.0	74.0					19																	53848849		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53848849G>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.106G>T	19.37:g.53848849G>T	ENSP00000470005:p.Val36Leu					ZNF845_ENST00000595091.1_Missense_Mutation_p.V36L	p.V36L	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			3	223	+			36			KRAB.			Missense_Mutation	SNP	ENST00000595091.1	37	c.106G>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238423	0.39598	.	.	ENSG00000213799	ENST00000458035;ENST00000359916;ENST00000427984	T	0.03801	3.8	1.85	1.85	0.25348	Krueppel-associated box (4);	.	.	.	.	T	0.29620	0.0739	H	0.98466	4.24	0.22001	N	0.999425	D	0.56521	0.976	P	0.60068	0.868	T	0.17501	-1.0367	9	0.87932	D	0	.	9.4146	0.38514	0.0:0.0:1.0:0.0	.	36	Q96IR2	ZN845_HUMAN	L	36	ENSP00000388311:V36L	ENSP00000352990:V36L	V	+	1	0	ZNF845	58540661	0.998000	0.40836	0.821000	0.32701	0.219000	0.24729	4.546000	0.60705	1.048000	0.40298	0.134000	0.15878	GTG		0.473	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		5	121	1	0	0.00198382	1	0.00204995	5	121				
HSPG2	3339	broad.mit.edu	37	1	22157966	22157966	+	Silent	SNP	G	G	A	rs562275583		TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr1:22157966G>A	ENST00000374695.3	-	83	11521	c.11442C>T	c.(11440-11442)agC>agT	p.S3814S	HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3814	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTATGAAGCCGCTGCTCAGCC	0.642													g|||	1	0.000199681	0.0	0.0	5008	,	,		18159	0.0		0.0	False		,,,				2504	0.001					ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(11440-11442)agC>agT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						50.0	53.0	52.0					1																	22157966		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22157966G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.11442C>T	1.37:g.22157966G>A							p.S3814S	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	83	11521	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3814			Laminin G-like 1.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.11442C>T	CCDS30625.1																																																																																				0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	24	0	0	0	1	0	4	24				
CARD11	84433	broad.mit.edu	37	7	2968246	2968246	+	Silent	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr7:2968246G>A	ENST00000396946.4	-	13	2143	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	580					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GATGGGGCGCGTCCTCCTTGT	0.657			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1738-1740)gaC>gaT		caspase recruitment domain family, member 11							84.0	71.0	76.0					7																	2968246		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2968246G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1740C>T	7.37:g.2968246G>A							p.D580D	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	13	2143	-		Ovarian(82;0.0115)	580					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.1740C>T	CCDS5336.2																																																																																				0.657	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		5	64	0	0	0	1	0	5	64				
LRRC3	81543	broad.mit.edu	37	21	45877227	45877227	+	Missense_Mutation	SNP	C	C	T	rs567420098		TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr21:45877227C>T	ENST00000291592.4	+	2	1017	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	LRRC3DN_ENST00000596691.1_5'Flank|LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	234						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGAGGATGCCCGGAGGCACCT	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		17348	0.0		0.0	False		,,,				2504	0.001					ENST00000291592.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(700-702)Cgg>Tgg		leucine rich repeat containing 3							58.0	63.0	61.0					21																	45877227		2203	4300	6503	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45877227C>T	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.700C>T	21.37:g.45877227C>T	ENSP00000291592:p.Arg234Trp						p.R234W	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	1017	+		Breast(209;0.00908)	234					Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.700C>T	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093289	0.76756	.	.	ENSG00000160233	ENST00000291592	T	0.63417	-0.04	4.81	-3.24	0.05094	.	0.202547	0.43919	D	0.000516	T	0.75824	0.3902	M	0.71036	2.16	0.53005	D	0.999969	D	0.89917	1.0	D	0.85130	0.997	T	0.77373	-0.2612	10	0.87932	D	0	-37.3553	18.6883	0.91573	0.2819:0.7181:0.0:0.0	.	234	Q9BY71	LRRC3_HUMAN	W	234	ENSP00000291592:R234W	ENSP00000291592:R234W	R	+	1	2	LRRC3	44701655	0.484000	0.25964	0.935000	0.37517	0.964000	0.63967	-0.008000	0.12788	-0.827000	0.04278	0.436000	0.28706	CGG		0.672	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			6	39	0	0	0	1	0	6	39				
C4orf19	55286	broad.mit.edu	37	4	37590515	37590515	+	Missense_Mutation	SNP	T	T	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr4:37590515T>A	ENST00000284437.6	+	2	204	c.26T>A	c.(25-27)aTa>aAa	p.I9K	C4orf19_ENST00000381980.4_Missense_Mutation_p.I9K|C4orf19_ENST00000508175.1_Missense_Mutation_p.I9K|RP11-36B15.1_ENST00000503034.1_RNA	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	9										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						TGTAAAATAATACAAAGGTAA	0.398																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(25-27)aTa>aAa		chromosome 4 open reading frame 19							98.0	95.0	96.0					4																	37590515		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37590515T>A	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.26T>A	4.37:g.37590515T>A	ENSP00000284437:p.Ile9Lys					C4orf19_ENST00000381980.4_Missense_Mutation_p.I9K|C4orf19_ENST00000508175.1_Missense_Mutation_p.I9K	p.I9K	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			2	204	+			9					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.26T>A	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377644	0.82682	.	.	ENSG00000154274	ENST00000381980;ENST00000508175;ENST00000284437	T;T	0.33438	1.41;1.41	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000005	T	0.52725	0.1752	M	0.61703	1.905	0.53688	D	0.999972	D	0.89917	1.0	D	0.75484	0.986	T	0.54990	-0.8210	10	0.87932	D	0	-10.8045	14.4297	0.67240	0.0:0.0:0.0:1.0	.	9	Q8IY42	CD019_HUMAN	K	9	ENSP00000371408:I9K;ENSP00000284437:I9K	ENSP00000284437:I9K	I	+	2	0	C4orf19	37266910	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.037000	0.64170	2.333000	0.79357	0.482000	0.46254	ATA		0.398	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		4	32	0	0	0	1	0	4	32				
MLH3	27030	broad.mit.edu	37	14	75508331	75508331	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr14:75508331G>A	ENST00000556740.1	-	3	3487	c.3452C>T	c.(3451-3453)gCc>gTc	p.A1151V	MLH3_ENST00000355774.2_Missense_Mutation_p.A1151V|MLH3_ENST00000555671.1_Intron|MLH3_ENST00000238662.7_Missense_Mutation_p.A1151V|MLH3_ENST00000380968.2_Missense_Mutation_p.A97V|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000544985.1_Missense_Mutation_p.A146V			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1151					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGGATAACGGGCAAATACTGG	0.388								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(3451-3453)gCc>gTc	Mismatch excision repair (MMR)	mutL homolog 3							122.0	104.0	110.0					14																	75508331		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75508331G>A	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3452C>T	14.37:g.75508331G>A	ENSP00000452316:p.Ala1151Val					MLH3_ENST00000238662.7_Missense_Mutation_p.A1151V|MLH3_ENST00000555671.1_Intron|MLH3_ENST00000556740.1_Missense_Mutation_p.A1151V|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000544985.1_Missense_Mutation_p.A146V|MLH3_ENST00000380968.2_Missense_Mutation_p.A97V	p.A1151V	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	4	3667	-			1151					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.3452C>T	CCDS32123.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.940852|2.940852	0.52972|0.52972	.|.	.|.	ENSG00000119684|ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556740;ENST00000544985|ENST00000553713	T;T;T;T;T|.	0.80566|.	-1.39;0.66;-1.3;-1.39;0.58|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.325148|.	0.37577|.	N|.	0.002029|.	T|T	0.47173|0.47173	0.1431|0.1431	L|L	0.36672|0.36672	1.1|1.1	0.29312|0.29312	N|N	0.867957|0.867957	B;B|.	0.26744|.	0.158;0.058|.	B;B|.	0.26416|.	0.069;0.012|.	T|T	0.43702|0.43702	-0.9375|-0.9375	10|5	0.39692|.	T|.	0.17|.	-3.8281|-3.8281	13.966|13.966	0.64209|0.64209	0.0777:0.0:0.9223:0.0|0.0777:0.0:0.9223:0.0	.|.	1151;1151|.	Q9UHC1-2;Q9UHC1|.	.;MLH3_HUMAN|.	V|S	1151;97;1151;1151;146|175	ENSP00000348020:A1151V;ENSP00000370355:A97V;ENSP00000238662:A1151V;ENSP00000452316:A1151V;ENSP00000441371:A146V|.	ENSP00000238662:A1151V|.	A|P	-|-	2|1	0|0	MLH3|MLH3	74578084|74578084	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.949000|3.949000	0.56668|0.56668	2.826000|2.826000	0.97356|0.97356	0.561000|0.561000	0.74099|0.74099	GCC|CCC		0.388	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		3	30	0	0	0	1	0	3	30				
OR2L2	26246	broad.mit.edu	37	1	248202447	248202447	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr1:248202447A>G	ENST00000366479.2	+	1	974	c.878A>G	c.(877-879)aAc>aGc	p.N293S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGCCTGAGAAACAAGGAGGTG	0.473																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(877-879)aAc>aGc		olfactory receptor, family 2, subfamily L, member 2							79.0	78.0	78.0					1																	248202447		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202447A>G	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.878A>G	1.37:g.248202447A>G	ENSP00000355435:p.Asn293Ser					OR2L13_ENST00000366478.2_Intron	p.N293S	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	974	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		293					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.878A>G	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	12.05	1.822829	0.32237	.	.	ENSG00000203663	ENST00000366479	T	0.39997	1.05	1.9	0.66	0.17868	.	.	.	.	.	T	0.53753	0.1816	M	0.69463	2.115	0.22581	N	0.998962	D	0.67145	0.996	P	0.62184	0.899	T	0.42032	-0.9475	9	0.87932	D	0	.	6.3852	0.21556	0.7798:0.0:0.0:0.2202	.	293	Q8NH16	OR2L2_HUMAN	S	293	ENSP00000355435:N293S	ENSP00000355435:N293S	N	+	2	0	OR2L2	246269070	0.018000	0.18449	0.978000	0.43139	0.573000	0.36030	0.537000	0.23144	-0.082000	0.12640	0.163000	0.16589	AAC		0.473	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		3	51	0	0	0	1	0	3	51				
BSN	8927	broad.mit.edu	37	3	49693162	49693162	+	Missense_Mutation	SNP	T	T	G			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr3:49693162T>G	ENST00000296452.4	+	5	6287	c.6173T>G	c.(6172-6174)aTg>aGg	p.M2058R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2058					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCGCTTCCCATGCGGCGCTAT	0.602																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(6172-6174)aTg>aGg		bassoon presynaptic cytomatrix protein							108.0	101.0	103.0					3																	49693162		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49693162T>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6173T>G	3.37:g.49693162T>G	ENSP00000296452:p.Met2058Arg						p.M2058R	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	6287	+			2058					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.6173T>G	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.489184	0.26686	.	.	ENSG00000164061	ENST00000296452	T	0.20332	2.08	5.34	5.34	0.76211	.	0.147890	0.64402	D	0.000007	T	0.25901	0.0631	L	0.57536	1.79	0.49130	D	0.999758	P	0.37955	0.612	B	0.37943	0.261	T	0.03784	-1.1004	10	0.62326	D	0.03	-7.3243	15.3196	0.74112	0.0:0.0:0.0:1.0	.	2058	Q9UPA5	BSN_HUMAN	R	2058	ENSP00000296452:M2058R	ENSP00000296452:M2058R	M	+	2	0	BSN	49668166	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	8.033000	0.88852	2.020000	0.59435	0.459000	0.35465	ATG		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		4	29	0	0	0	1	0	4	29				
NDUFS7	374291	broad.mit.edu	37	19	1391008	1391008	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:1391008G>A	ENST00000233627.9	+	5	663	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	AC005329.7_ENST00000501448.1_RNA|AC005329.7_ENST00000589734.1_RNA|NDUFS7_ENST00000546283.1_Missense_Mutation_p.A123T|NDUFS7_ENST00000539480.1_Missense_Mutation_p.A123T|AC005329.7_ENST00000585596.1_RNA|NDUFS7_ENST00000414651.2_Missense_Mutation_p.A153T|NDUFS7_ENST00000313408.7_Missense_Mutation_p.A123T|NDUFS7_ENST00000540530.1_3'UTR	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	123					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Doxorubicin(DB00997)	CATGATCGTGGCCGGCACACT	0.687																																						ENST00000313408.7																			0				ovary(1)	1						c.(367-369)Gcc>Acc		NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						53.0	52.0	52.0					19																	1391008		2203	4299	6502	SO:0001583	missense	374291				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr19:1391008G>A	AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"""Mitochondrial respiratory chain complex / Complex I"""	7714	protein-coding gene	gene with protein product	"""complex I 20kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"""	601825	"""NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"""			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.367G>A	19.37:g.1391008G>A	ENSP00000233627:p.Ala123Thr					NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000414651.2_Missense_Mutation_p.A153T|NDUFS7_ENST00000233627.9_Missense_Mutation_p.A123T|NDUFS7_ENST00000546283.1_Missense_Mutation_p.A123T|NDUFS7_ENST00000539480.1_Missense_Mutation_p.A123T	p.A123T			O75251	NDUS7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	390	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)	123					B3KRI2|Q2T9H7|Q9BV17	Missense_Mutation	SNP	ENST00000233627.9	37	c.367G>A	CCDS12063.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758486	0.49468	.	.	ENSG00000115286	ENST00000546283;ENST00000233627;ENST00000539480;ENST00000313408;ENST00000450862;ENST00000414651;ENST00000538929;ENST00000538523;ENST00000540530;ENST00000535382	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	4.6	4.6	0.57074	NADH:ubiquinone oxidoreductase-like, 20kDa subunit (2);	.	.	.	.	D	0.82305	0.5008	L	0.48260	1.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.998	D	0.84653	0.0702	9	0.87932	D	0	.	16.0157	0.80439	0.0:0.0:1.0:0.0	.	123;130;123;123	F5H5N1;Q8NAS7;B3KRI2;O75251	.;.;.;NDUS7_HUMAN	T	123;123;123;123;123;153;42;42;42;42	ENSP00000440348:A123T;ENSP00000233627:A123T;ENSP00000443273:A123T;ENSP00000364262:A123T;ENSP00000406630:A153T	ENSP00000233627:A123T	A	+	1	0	NDUFS7	1342008	1.000000	0.71417	0.682000	0.30024	0.039000	0.13416	9.258000	0.95555	2.100000	0.63781	0.561000	0.74099	GCC		0.687	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397984.1	NM_024407		3	23	0	0	0	1	0	3	23				
GTSE1	51512	broad.mit.edu	37	22	46704404	46704404	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr22:46704404C>T	ENST00000454366.1	+	4	538	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	90					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CACTTACTGGCTTTACACATT	0.572																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(325-327)gCt>gTt		G-2 and S-phase expressed 1							59.0	68.0	65.0					22																	46704404		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704404C>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.326C>T	22.37:g.46704404C>T	ENSP00000415430:p.Ala109Val						p.A109V	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	538	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	90					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.326C>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424680	0.83667	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.18810	2.19	5.74	5.74	0.90152	.	0.047590	0.85682	D	0.000000	T	0.52289	0.1725	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54840	-0.8233	10	0.87932	D	0	-28.835	19.5244	0.95197	0.0:1.0:0.0:0.0	.	90	Q9NYZ3	GTSE1_HUMAN	V	109;69	ENSP00000415430:A109V	ENSP00000354634:A69V	A	+	2	0	GTSE1	45083068	0.999000	0.42202	0.912000	0.35992	0.388000	0.30384	5.154000	0.64894	2.700000	0.92200	0.655000	0.94253	GCT		0.572	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		4	39	0	0	0	1	0	4	39				
JADE2	23338	broad.mit.edu	37	5	133895558	133895558	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr5:133895558C>T	ENST00000402835.1	+	5	605	c.350C>T	c.(349-351)tCc>tTc	p.S117F	PHF15_ENST00000282605.4_Missense_Mutation_p.S117F|PHF15_ENST00000361895.2_Missense_Mutation_p.S117F|PHF15_ENST00000395003.1_Missense_Mutation_p.S117F																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCAGGCATCCCCGAGCAGC	0.622																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(349-351)tCc>tTc									49.0	46.0	47.0					5																	133895558		2203	4300	6503	SO:0001583	missense	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133895558C>T																												ENST00000402835.1:c.350C>T	5.37:g.133895558C>T	ENSP00000384671:p.Ser117Phe					PHF15_ENST00000282605.4_Missense_Mutation_p.S117F|PHF15_ENST00000402835.1_Missense_Mutation_p.S117F|PHF15_ENST00000361895.2_Missense_Mutation_p.S117F	p.S117F	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	529	+			117						Missense_Mutation	SNP	ENST00000402835.1	37	c.350C>T		.	.	.	.	.	.	.	.	.	.	C	19.66	3.868302	0.72065	.	.	ENSG00000043143	ENST00000512386;ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.84	4.95	0.65309	Enhancer of polycomb-like, N-terminal (1);	0.756002	0.12459	N	0.467117	T	0.46541	0.1398	L	0.40543	1.245	0.38512	D	0.948509	B;B;B;B;B	0.30406	0.085;0.192;0.085;0.278;0.195	B;B;B;B;B	0.41412	0.251;0.356;0.251;0.173;0.356	T	0.49818	-0.8899	10	0.72032	D	0.01	.	14.3145	0.66440	0.0:0.852:0.148:0.0	.	117;117;117;117;133	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	F	117;117;133;117;117;117;117;117;117	ENSP00000422991:S117F;ENSP00000282605:S117F;ENSP00000354425:S117F;ENSP00000384671:S117F;ENSP00000378451:S117F;ENSP00000406189:S117F	ENSP00000282605:S117F	S	+	2	0	PHF15	133923457	1.000000	0.71417	0.528000	0.27938	0.008000	0.06430	4.319000	0.59197	1.437000	0.47472	0.561000	0.74099	TCC		0.622	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			9	13	0	0	0	1	0	9	13				
EPAS1	2034	broad.mit.edu	37	2	46607402	46607402	+	Missense_Mutation	SNP	C	C	G			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr2:46607402C>G	ENST00000263734.3	+	12	2101	c.1591C>G	c.(1591-1593)Ccc>Gcc	p.P531A		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	531	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|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)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GACACTGGCACCCTATATCCC	0.587																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1591-1593)Ccc>Gcc		endothelial PAS domain protein 1							85.0	93.0	91.0					2																	46607402		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607402C>G	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1591C>G	2.37:g.46607402C>G	ENSP00000263734:p.Pro531Ala						p.P531A	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2101	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	531			NTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1591C>G	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783223	0.90282	.	.	ENSG00000116016	ENST00000263734	D	0.99511	-6.05	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98897	1.0775	10	0.87932	D	0	.	18.4411	0.90666	0.0:1.0:0.0:0.0	.	531	Q99814	EPAS1_HUMAN	A	531	ENSP00000263734:P531A	ENSP00000263734:P531A	P	+	1	0	EPAS1	46460906	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.814000	0.86154	2.361000	0.80049	0.491000	0.48974	CCC		0.587	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		34	72	0	0	0	1	0	34	72				
CA11	770	broad.mit.edu	37	19	49142648	49142648	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:49142648A>G	ENST00000084798.4	-	7	1388	c.709T>C	c.(709-711)Tat>Cat	p.Y237H	DBP_ENST00000222122.5_5'Flank|DBP_ENST00000601104.1_5'Flank|SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	237						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	GAGCCCTGATAGGTGATGAAG	0.562																																						ENST00000084798.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14						c.(709-711)Tat>Cat		carbonic anhydrase XI							71.0	71.0	71.0					19																	49142648		2203	4300	6503	SO:0001583	missense	770					extracellular region		g.chr19:49142648A>G	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.709T>C	19.37:g.49142648A>G	ENSP00000084798:p.Tyr237His					SEC1P_ENST00000430145.2_RNA	p.Y237H	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	7	1388	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	237					O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	c.709T>C	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.888142	0.72524	.	.	ENSG00000063180	ENST00000084798	T	0.80123	-1.34	3.22	3.22	0.36961	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.152412	0.45606	D	0.000358	D	0.90669	0.7073	H	0.96460	3.825	0.50813	D	0.999893	D	0.61080	0.989	D	0.64042	0.921	D	0.91112	0.4923	10	0.87932	D	0	.	8.0781	0.30729	1.0:0.0:0.0:0.0	.	237	O75493	CAH11_HUMAN	H	237	ENSP00000084798:Y237H	ENSP00000084798:Y237H	Y	-	1	0	CA11	53834460	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.628000	0.83189	1.470000	0.48102	0.374000	0.22700	TAT		0.562	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		3	26	0	0	0	1	0	3	26				
ITGAM	3684	broad.mit.edu	37	16	31273075	31273075	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr16:31273075G>A	ENST00000287497.8	+	2	166	c.91G>A	c.(91-93)Gca>Aca	p.A31T	ITGAM_ENST00000544665.3_Missense_Mutation_p.A31T			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	31					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCAAGAGAACGCAAGGGGCTT	0.517																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(91-93)Gca>Aca		integrin, alpha M (complement component 3 receptor 3 subunit)							64.0	60.0	61.0					16																	31273075		1959	4144	6103	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31273075G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.91G>A	16.37:g.31273075G>A	ENSP00000287497:p.Ala31Thr					ITGAM_ENST00000287497.8_Missense_Mutation_p.A31T	p.A31T	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			2	162	+			31					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.91G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425892	0.43020	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.72505	-0.66;-0.66	5.13	5.13	0.70059	.	.	.	.	.	T	0.71913	0.3396	M	0.64404	1.975	0.09310	N	1	P;P	0.47350	0.894;0.894	P;P	0.44422	0.449;0.449	T	0.67829	-0.5569	9	0.59425	D	0.04	.	14.1377	0.65297	0.0:0.0:1.0:0.0	.	31;31	Q4VAK1;P11215	.;ITAM_HUMAN	T	31	ENSP00000441691:A31T;ENSP00000287497:A31T	ENSP00000287497:A31T	A	+	1	0	ITGAM	31180576	0.255000	0.24002	0.010000	0.14722	0.019000	0.09904	4.816000	0.62642	2.407000	0.81776	0.650000	0.86243	GCA		0.517	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		5	14	0	0	0	1	0	5	14				
AHI1	54806	broad.mit.edu	37	6	135752363	135752363	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr6:135752363delG	ENST00000367800.4	-	15	2572	c.2356delC	c.(2356-2358)cacfs	p.H786fs	AHI1_ENST00000417892.2_Frame_Shift_Del_p.H140fs|AHI1_ENST00000457866.2_Frame_Shift_Del_p.H786fs|AHI1_ENST00000327035.6_Frame_Shift_Del_p.H786fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	786					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATAGTCCAGTGGTGCACTGAA	0.303																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(2356-2358)acfs		Abelson helper integration site 1							65.0	59.0	61.0					6																	135752363		1810	4066	5876	SO:0001589	frameshift_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135752363delG	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.2356delC	6.37:g.135752363delG	ENSP00000356774:p.His786fs					AHI1_ENST00000327035.6_Frame_Shift_Del_p.H786fs|AHI1_ENST00000457866.2_Frame_Shift_Del_p.H786fs|AHI1_ENST00000417892.2_Frame_Shift_Del_p.H140fs	p.H786fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	15	2572	-	Breast(56;0.239)|Colorectal(23;0.24)		786					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Frame_Shift_Del	DEL	ENST00000367800.4	37	c.2356delC	CCDS47483.1																																																																																				0.303	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		2	4						2	4	---	---	---	---
SMARCB1	6598	broad.mit.edu	37	22	24176363	24176363	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr22:24176363delG	ENST00000263121.7	+	9	1350	c.1154delG	c.(1153-1155)tggfs	p.W385fs	SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.W376fs|DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.W339fs|SMARCB1_ENST00000344921.6_Frame_Shift_Del_p.W394fs	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	385					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCCCCGGCCTGGTAACCAGCC	0.662			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																ENST00000344921.6			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""D, N, F, S"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid		3	Unknown(2)|Deletion - In frame(1)	p.?(2)|p.L266_*386del(1)	central_nervous_system(3)	bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458						c.(1180-1182)tgfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1							31.0	23.0	26.0					22																	24176363		2195	4290	6485	SO:0001589	frameshift_variant	6598				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24176363delG	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1154delG	22.37:g.24176363delG	ENSP00000263121:p.Trp385fs					SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.W376fs|SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.W339fs|SMARCB1_ENST00000263121.7_Frame_Shift_Del_p.W385fs	p.W394fs			Q12824	SNF5_HUMAN			9	1388	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	385					O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Frame_Shift_Del	DEL	ENST00000263121.7	37	c.1181delG	CCDS13817.1																																																																																				0.662	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		2	4						2	4	---	---	---	---
