#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
CPNE2	221184	broad.mit.edu	37	16	57155597	57155597	+	Silent	SNP	G	G	A			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr16:57155597G>A	ENST00000535318.2	+	10	1153	c.792G>A	c.(790-792)gaG>gaA	p.E264E	CPNE2_ENST00000290776.8_Silent_p.E264E|CPNE2_ENST00000537605.1_Silent_p.E162E|CPNE2_ENST00000565874.1_Silent_p.E264E			Q96FN4	CPNE2_HUMAN	copine II	264						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TGGAGTTCGAGTGCATCAACC	0.527																																						ENST00000535318.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.(790-792)gaG>gaA		copine II							143.0	133.0	136.0					16																	57155597		2198	4300	6498	SO:0001819	synonymous_variant	221184							g.chr16:57155597G>A		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.792G>A	16.37:g.57155597G>A						CPNE2_ENST00000565874.1_Silent_p.E264E|CPNE2_ENST00000290776.8_Silent_p.E264E|CPNE2_ENST00000537605.1_Silent_p.E162E	p.E264E			Q96FN4	CPNE2_HUMAN			10	1153	+		all_neural(199;0.224)	264					Q68D19|Q719H8|Q86XP9	Silent	SNP	ENST00000535318.2	37	c.792G>A	CCDS10774.1																																																																																				0.527	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		21	125	0	0	0	1	0	21	125				
DTNB	1838	broad.mit.edu	37	2	25705699	25705699	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:25705699G>A	ENST00000406818.3	-	10	1294	c.1045C>T	c.(1045-1047)Cac>Tac	p.H349Y	DTNB_ENST00000404103.3_Missense_Mutation_p.H349Y|DTNB_ENST00000407661.3_Missense_Mutation_p.H349Y|DTNB_ENST00000405222.1_Missense_Mutation_p.H349Y|DTNB_ENST00000545439.1_Missense_Mutation_p.H145Y|DTNB_ENST00000407186.1_Missense_Mutation_p.H349Y|DTNB_ENST00000407038.3_Missense_Mutation_p.H349Y|DTNB_ENST00000288642.8_Missense_Mutation_p.H349Y|DTNB_ENST00000496972.2_Missense_Mutation_p.H292Y	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	349						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGACATGTGGCTAACCATG	0.483																																						ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(1045-1047)Cac>Tac		dystrobrevin, beta							95.0	97.0	96.0					2																	25705699		2026	4172	6198	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25705699G>A	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1045C>T	2.37:g.25705699G>A	ENSP00000384084:p.His349Tyr					DTNB_ENST00000407661.3_Missense_Mutation_p.H349Y|DTNB_ENST00000407038.3_Missense_Mutation_p.H349Y|DTNB_ENST00000496972.2_Missense_Mutation_p.H292Y|DTNB_ENST00000407186.1_Missense_Mutation_p.H349Y|DTNB_ENST00000288642.8_Missense_Mutation_p.H349Y|DTNB_ENST00000405222.1_Missense_Mutation_p.H349Y|DTNB_ENST00000404103.3_Missense_Mutation_p.H349Y|DTNB_ENST00000545439.1_Missense_Mutation_p.H145Y	p.H349Y	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			10	1294	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		349					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.1045C>T	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907762	0.33721	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791	T;T;T;T;T;T;T;T;T	0.43294	2.28;2.28;2.26;2.29;2.24;2.25;2.25;2.26;0.95	5.13	5.13	0.70059	.	0.063756	0.64402	D	0.000004	T	0.50956	0.1646	M	0.63428	1.95	0.37198	D	0.904257	P;B;B;B;B;B;B;P;B;B;B;P	0.42993	0.697;0.004;0.006;0.004;0.004;0.004;0.003;0.697;0.014;0.004;0.006;0.797	B;B;B;B;B;B;B;B;B;B;B;P	0.48770	0.37;0.002;0.02;0.012;0.005;0.009;0.007;0.296;0.02;0.006;0.02;0.589	T	0.59306	-0.7479	10	0.51188	T	0.08	-21.6873	14.4411	0.67318	0.0:0.0:1.0:0.0	.	349;145;292;349;349;292;349;349;349;349;349;349	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN	Y	292;349;349;349;349;349;349;349;145;202	ENSP00000444463:H292Y;ENSP00000384084:H349Y;ENSP00000385482:H349Y;ENSP00000385193:H349Y;ENSP00000384767:H349Y;ENSP00000384787:H349Y;ENSP00000385784:H349Y;ENSP00000288642:H349Y;ENSP00000444961:H145Y	ENSP00000288642:H349Y	H	-	1	0	DTNB	25559203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.189000	0.65098	2.544000	0.85801	0.650000	0.86243	CAC		0.483	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		3	59	0	0	0	1	0	3	59				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	5	27	0	0	0	1	0	5	27				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382578.1_Silent_p.S281S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	63	0	0	0	1	0	3	63				
NRXN3	9369	broad.mit.edu	37	14	79175617	79175617	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr14:79175617G>A	ENST00000554719.1	+	4	651	c.160G>A	c.(160-162)Gac>Aac	p.D54N	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.D54N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCGGATTGCGGACACCAAGAT	0.463																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(160-162)Gac>Aac		neurexin 3							94.0	93.0	94.0					14																	79175617		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79175617G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.160G>A	14.37:g.79175617G>A	ENSP00000451648:p.Asp54Asn					NRXN3_ENST00000335750.5_Missense_Mutation_p.D54N|RP11-232C2.2_ENST00000555680.1_RNA	p.D54N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	651	+		Renal(4;0.00876)	0					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.160G>A	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503512	0.85176	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.67523	-0.27;-0.27	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	.	.	.	0.80722	D	1	P;P	0.52692	0.955;0.861	B;P	0.46026	0.396;0.501	T	0.68228	-0.5464	8	.	.	.	.	19.1251	0.93380	0.0:0.0:1.0:0.0	.	427;54	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	N	427;425;54;54	ENSP00000451648:D54N;ENSP00000338349:D54N	.	D	+	1	0	NRXN3	78245370	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.518000	0.84900	0.563000	0.77884	GAC		0.463	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		5	92	0	0	0	1	0	5	92				
TBX2	6909	broad.mit.edu	37	17	59477559	59477559	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr17:59477559G>C	ENST00000240328.3	+	1	303	c.22G>C	c.(22-24)Gcc>Ccc	p.A8P	RP11-332H18.4_ENST00000591313.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000589814.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	8					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						GGCGCTGGCGGCCAGCGCCAT	0.796																																					GBM(3;187 253 11467 14965 23079)	ENST00000240328.3																			0				endometrium(1)|lung(7)|ovary(1)	9						c.(22-24)Gcc>Ccc		T-box 2							7.0	7.0	7.0					17																	59477559		1432	3126	4558	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59477559G>C	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.22G>C	17.37:g.59477559G>C	ENSP00000240328:p.Ala8Pro					RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA	p.A8P	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN			1	303	+			8					Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.22G>C	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046913	0.55110	.	.	ENSG00000121068	ENST00000240328	D	0.86769	-2.17	3.2	3.2	0.36748	.	.	.	.	.	T	0.79851	0.4517	L	0.29908	0.895	0.42866	D	0.994125	P	0.36733	0.567	B	0.34346	0.18	T	0.82323	-0.0514	9	0.66056	D	0.02	.	13.5665	0.61822	0.0:0.0:1.0:0.0	.	8	Q13207	TBX2_HUMAN	P	8	ENSP00000240328:A8P	ENSP00000240328:A8P	A	+	1	0	TBX2	56832341	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	5.747000	0.68689	1.632000	0.50472	0.163000	0.16589	GCC		0.796	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		6	29	0	0	0	1	0	6	29				
TMEM53	79639	broad.mit.edu	37	1	45120685	45120685	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr1:45120685A>T	ENST00000372237.3	-	3	543	c.380T>A	c.(379-381)cTg>cAg	p.L127Q	TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.L97Q|TMEM53_ENST00000372242.3_Missense_Mutation_p.L127Q	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	127						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					ACGGGTCTGCAGGAGCTCCAG	0.612											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372237.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(379-381)cTg>cAg		transmembrane protein 53							48.0	49.0	49.0					1																	45120685		2203	4300	6503	SO:0001583	missense	79639					integral to membrane		g.chr1:45120685A>T		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.380T>A	1.37:g.45120685A>T	ENSP00000361311:p.Leu127Gln		OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	929	TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Missense_Mutation_p.L97Q|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Missense_Mutation_p.L127Q	p.L127Q	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN			3	543	-	Acute lymphoblastic leukemia(166;0.155)		127					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	c.380T>A	CCDS511.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.320057	0.81469	.	.	ENSG00000126106	ENST00000372242;ENST00000372237;ENST00000372235;ENST00000420706	.	.	.	5.67	5.67	0.87782	.	0.138027	0.49916	D	0.000132	T	0.80497	0.4634	M	0.83953	2.67	0.58432	D	0.999998	D	0.76494	0.999	D	0.76575	0.988	T	0.82074	-0.0637	9	0.48119	T	0.1	.	15.9165	0.79524	1.0:0.0:0.0:0.0	.	127	Q6P2H8	TMM53_HUMAN	Q	127;127;97;96	.	ENSP00000361309:L97Q	L	-	2	0	TMEM53	44893272	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	7.286000	0.78671	2.169000	0.68431	0.460000	0.39030	CTG		0.612	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		4	59	0	0	0	1	0	4	59				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262083	39262083	+	Missense_Mutation	SNP	A	A	C	rs75392608	byFrequency	TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr17:39262083A>C	ENST00000391415.1	+	1	500	c.443A>C	c.(442-444)aAc>aCc	p.N148T		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	148	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						tgccagcccaactgctgccgc	0.667																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(442-444)aAc>aCc		keratin associated protein 4-9																																				SO:0001583	missense	100132386					keratin filament		g.chr17:39262083A>C	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.443A>C	17.37:g.39262083A>C	ENSP00000375234:p.Asn148Thr						p.N148T	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	500	+			148			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.443A>C	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.682784	0.00745	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00561	6.59	2.83	-1.44	0.08856	.	8.212230	0.00901	N	0.002346	T	0.00144	0.0004	N	0.00071	-2.275	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47623	-0.9103	10	0.07990	T	0.79	.	2.3835	0.04360	0.1689:0.3761:0.3337:0.1212	.	148	Q9BYQ8	KRA49_HUMAN	T	136;148;139	ENSP00000375234:N148T	ENSP00000334461:N139T	N	+	2	0	KRTAP4-9	36515609	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	-4.052000	0.00305	-0.458000	0.07023	-1.815000	0.00603	AAC		0.667	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	17	0	0	0	1	0	4	17				
PPAN	56342	broad.mit.edu	37	19	10220329	10220329	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr19:10220329G>A	ENST00000253107.7	+	6	642	c.536G>A	c.(535-537)cGc>cAc	p.R179H	SNORD105B_ENST00000458770.1_RNA|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R179H|SNORD105_ENST00000386910.1_RNA|PPAN_ENST00000556468.1_Missense_Mutation_p.R179H|PPAN_ENST00000393793.1_Missense_Mutation_p.R126H|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.R179H|P2RY11_ENST00000321826.4_5'Flank	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	179	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			ACCATCAAGCGCTGCCTCCTC	0.597																																						ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(535-537)cGc>cAc									232.0	244.0	240.0					19																	10220329		2203	4300	6503	SO:0001583	missense	692312				RNA splicing	nucleolus	protein binding	g.chr19:10220329G>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.536G>A	19.37:g.10220329G>A	ENSP00000253107:p.Arg179His					PPAN_ENST00000393793.1_Missense_Mutation_p.R126H|PPAN_ENST00000253107.7_Missense_Mutation_p.R179H|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R179H|PPAN_ENST00000556468.1_Missense_Mutation_p.R179H	p.R179H	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		6	708	+			179			Brix.		C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.536G>A	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099098	0.76983	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	4.94	4.94	0.65067	Brix domain (3);	7739.210000	0.00166	U	0.000001	T	0.73567	0.3603	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.59284	-0.7483	10	0.87932	D	0	-33.0923	16.9125	0.86144	0.0:0.0:1.0:0.0	.	179;179;179	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	H	179;179;179;179;179;126;117	ENSP00000411918:R179H;ENSP00000377385:R179H;ENSP00000253107:R179H;ENSP00000450710:R179H;ENSP00000377382:R126H;ENSP00000410485:R117H	ENSP00000253107:R179H	R	+	2	0	PPAN;PPAN-P2RY11	10081329	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	8.656000	0.91102	2.287000	0.76781	0.561000	0.74099	CGC		0.597	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		5	328	0	0	0	1	0	5	328				
IL18RAP	8807	broad.mit.edu	37	2	103040356	103040356	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:103040356G>T	ENST00000264260.2	+	4	745	c.156G>T	c.(154-156)caG>caT	p.Q52H	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	52					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAGAGCCACAGAAATCACATT	0.408																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(154-156)caG>caT		interleukin 18 receptor accessory protein							64.0	63.0	64.0					2																	103040356		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103040356G>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.156G>T	2.37:g.103040356G>T	ENSP00000264260:p.Gln52His					IL18RAP_ENST00000409369.1_Intron	p.Q52H	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			4	745	+			52					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.156G>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500836	0.26861	.	.	ENSG00000115607	ENST00000264260	T	0.02498	4.27	4.47	0.714	0.18180	.	1.533070	0.03666	N	0.243328	T	0.05135	0.0137	M	0.63428	1.95	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.43893	-0.9363	10	0.48119	T	0.1	.	6.4255	0.21768	0.4063:0.0:0.5937:0.0	.	52	O95256	I18RA_HUMAN	H	52	ENSP00000264260:Q52H	ENSP00000264260:Q52H	Q	+	3	2	IL18RAP	102406788	0.000000	0.05858	0.000000	0.03702	0.330000	0.28571	0.198000	0.17217	0.116000	0.18110	0.563000	0.77884	CAG		0.408	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		7	53	1	0	5.18039e-06	1	5.56892e-06	7	53				
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T	rs202185564		TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1135-1137)aGa>aAa		EF-hand calcium binding domain 6							41.0	41.0	41.0					22																	44083357		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083357C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>A	22.37:g.44083357C>T	ENSP00000262726:p.Arg379Lys					EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	p.R379K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			11	1389	-		Ovarian(80;0.0247)|all_neural(38;0.025)	379					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1136G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295528	0.05532	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13307	2.6;2.6	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12050	0.0293	M	0.63428	1.95	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.19666	0.026;0.018	T	0.31530	-0.9940	10	0.29301	T	0.29	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	227;379	ENSP00000379533:R227K;ENSP00000262726:R379K	ENSP00000262726:R379K	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		13	42	0	0	0	1	0	13	42				
NAALADL1	10004	broad.mit.edu	37	11	64822094	64822094	+	Silent	SNP	G	G	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr11:64822094G>T	ENST00000358658.3	-	5	747	c.720C>A	c.(718-720)ccC>ccA	p.P240P	NAALADL1_ENST00000355369.2_Silent_p.P240P|NAALADL1_ENST00000340252.4_Silent_p.P240P|NAALADL1_ENST00000339885.2_Silent_p.P240P|NAALADL1_ENST00000356632.3_Silent_p.P240P|NAALADL1_ENST00000355721.3_Silent_p.P199P	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CTCCTGAGGGGGGCAGGTACC	0.612											OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										ENST00000358658.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(718-720)ccC>ccA		N-acetylated alpha-linked acidic dipeptidase-like 1							56.0	56.0	56.0					11																	64822094		2201	4297	6498	SO:0001819	synonymous_variant	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64822094G>T	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.720C>A	11.37:g.64822094G>T			OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	1079	NAALADL1_ENST00000355369.2_Silent_p.P240P|NAALADL1_ENST00000339885.2_Silent_p.P240P|NAALADL1_ENST00000355721.3_Silent_p.P199P|NAALADL1_ENST00000340252.4_Silent_p.P240P|NAALADL1_ENST00000356632.3_Silent_p.P240P	p.P240P	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN			5	747	-			240					C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	ENST00000358658.3	37	c.720C>A	CCDS31604.1																																																																																				0.612	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		3	13	1	0	0.004672	1	0.004672	3	13				
DNAJC5G	285126	broad.mit.edu	37	2	27500634	27500634	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:27500634G>T	ENST00000296097.3	+	4	544	c.126G>T	c.(124-126)ttG>ttT	p.L42F	DNAJC5G_ENST00000402462.1_Missense_Mutation_p.L42F|DNAJC5G_ENST00000404433.1_Intron|DNAJC5G_ENST00000406962.1_Intron|SLC30A3_ENST00000447008.2_5'Flank	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	42	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCCGCATTGCTTCCCCACC	0.488																																						ENST00000296097.3																			0				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10						c.(124-126)ttG>ttT		DnaJ (Hsp40) homolog, subfamily C, member 5 gamma							102.0	99.0	100.0					2																	27500634		2203	4300	6503	SO:0001583	missense	285126				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr2:27500634G>T	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.126G>T	2.37:g.27500634G>T	ENSP00000296097:p.Leu42Phe					DNAJC5G_ENST00000404433.1_Intron|DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.L42F	p.L42F	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN			4	544	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		42			J.		B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	37	c.126G>T	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	G	5.724	0.318010	0.10845	.	.	ENSG00000163793	ENST00000296097;ENST00000402462	T;T	0.40476	1.03;1.03	3.84	-0.14	0.13456	Heat shock protein DnaJ, N-terminal (3);	1.917340	0.03216	N	0.176883	T	0.23649	0.0572	N	0.08118	0	0.33141	D	0.544361	B	0.02656	0.0	B	0.04013	0.001	T	0.28902	-1.0029	10	0.87932	D	0	.	3.65	0.08199	0.0:0.4409:0.2081:0.351	.	42	Q8N7S2	DNJ5G_HUMAN	F	42	ENSP00000296097:L42F;ENSP00000384305:L42F	ENSP00000296097:L42F	L	+	3	2	DNAJC5G	27354138	0.000000	0.05858	0.016000	0.15963	0.000000	0.00434	-0.591000	0.05753	-0.117000	0.11872	-1.121000	0.02013	TTG		0.488	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		26	106	1	0	6.04164e-23	1	6.8366e-23	26	106				
MEF2A	4205	broad.mit.edu	37	15	100211551	100211551	+	Missense_Mutation	SNP	T	T	A	rs1135555		TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr15:100211551T>A	ENST00000557785.1	+	5	631	c.282T>A	c.(280-282)aaT>aaA	p.N94K	MEF2A_ENST00000558812.1_Missense_Mutation_p.N26K|MEF2A_ENST00000449277.2_Missense_Mutation_p.N26K|MEF2A_ENST00000453228.2_Missense_Mutation_p.N94K|MEF2A_ENST00000557942.1_Missense_Mutation_p.N94K|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000338042.6_Missense_Mutation_p.N94K	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	94					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			AAGGCCTTAATGGTTGTGAGA	0.353																																						ENST00000338042.6																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(280-282)aaT>aaA		myocyte enhancer factor 2A							166.0	160.0	162.0					15																	100211551		1568	3582	5150	SO:0001583	missense	4205				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100211551T>A		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.282T>A	15.37:g.100211551T>A	ENSP00000453441:p.Asn94Lys					MEF2A_ENST00000449277.2_Missense_Mutation_p.N26K|MEF2A_ENST00000558812.1_Missense_Mutation_p.N26K|MEF2A_ENST00000557942.1_Missense_Mutation_p.N94K|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000557785.1_Missense_Mutation_p.N94K|MEF2A_ENST00000453228.2_Missense_Mutation_p.N94K	p.N94K			Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		4	601	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		94					B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.282T>A	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.487703	0.44249	.	.	ENSG00000068305	ENST00000453228;ENST00000338042;ENST00000449277	T;T;T	0.59772	0.24;0.24;1.25	5.54	5.54	0.83059	.	.	.	.	.	T	0.46521	0.1397	N	0.22421	0.69	0.31911	N	0.614689	B;B;B;B	0.28584	0.016;0.216;0.015;0.015	B;B;B;B	0.30029	0.062;0.11;0.041;0.041	T	0.53078	-0.8489	9	0.30078	T	0.28	.	15.9546	0.79876	0.0:0.0:0.0:1.0	.	26;15;94;94	B4DFQ7;Q7Z6C9;Q02078-6;Q02078-2	.;.;.;.	K	94;94;26	ENSP00000404110:N94K;ENSP00000337202:N94K;ENSP00000399460:N26K	ENSP00000337202:N94K	N	+	3	2	MEF2A	98029074	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.768000	0.62293	2.229000	0.72834	0.533000	0.62120	AAT		0.353	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			32	122	0	0	0	1	0	32	122				
FRK	2444	broad.mit.edu	37	6	116265543	116265543	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr6:116265543G>A	ENST00000606080.1	-	6	1450	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	FRK_ENST00000538210.1_Missense_Mutation_p.A193V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	335	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AACCTGTGCCGCCATGTCTAC	0.418																																						ENST00000606080.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(1003-1005)gCg>gTg		fyn-related kinase							78.0	78.0	78.0					6																	116265543		2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116265543G>A	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1004C>T	6.37:g.116265543G>A	ENSP00000476145:p.Ala335Val					FRK_ENST00000538210.1_Missense_Mutation_p.A193V	p.A335V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	6	1450	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	335			Protein kinase.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.1004C>T	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422237	0.62622	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.37235	1.21;1.21	5.6	5.6	0.85130	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000031	T	0.56615	0.1997	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.61312	-0.7088	10	0.87932	D	0	.	19.5995	0.95554	0.0:0.0:1.0:0.0	.	335	P42685	FRK_HUMAN	V	335;193	ENSP00000357615:A335V;ENSP00000443075:A193V	ENSP00000357615:A335V	A	-	2	0	FRK	116372236	1.000000	0.71417	0.947000	0.38551	0.055000	0.15305	6.530000	0.73816	2.610000	0.88304	0.591000	0.81541	GCG		0.418	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		4	81	0	0	0	1	0	4	81				
ZSWIM4	65249	broad.mit.edu	37	19	13910696	13910696	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr19:13910696C>G	ENST00000254323.2	+	2	505	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V	CTD-3252C9.2_ENST00000591242.1_RNA	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	106							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CGGGCTGCACCTGCTCCAGAG	0.642																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(316-318)Ctg>Gtg		zinc finger, SWIM-type containing 4							43.0	41.0	42.0					19																	13910696		2203	4299	6502	SO:0001583	missense	65249						zinc ion binding	g.chr19:13910696C>G	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.316C>G	19.37:g.13910696C>G	ENSP00000254323:p.Leu106Val						p.L106V	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		2	505	+			106						Missense_Mutation	SNP	ENST00000254323.2	37	c.316C>G	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119469	0.77323	.	.	ENSG00000132003	ENST00000254323	T	0.55052	0.54	4.31	4.31	0.51392	.	0.731345	0.11015	N	0.608983	T	0.70037	0.3178	M	0.89715	3.055	0.80722	D	1	D	0.64830	0.994	P	0.54889	0.763	T	0.73119	-0.4083	10	0.87932	D	0	-25.0301	8.2093	0.31473	0.0:0.8891:0.0:0.1109	.	106	Q9H7M6	ZSWM4_HUMAN	V	106	ENSP00000254323:L106V	ENSP00000254323:L106V	L	+	1	2	ZSWIM4	13771696	0.989000	0.36119	1.000000	0.80357	0.927000	0.56198	1.468000	0.35332	1.946000	0.56461	0.484000	0.47621	CTG		0.642	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		5	52	0	0	0	1	0	5	52				
GOLGA8I	283796	broad.mit.edu	37	15	23261044	23261044	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr15:23261044A>C	ENST00000450802.3	+	10	817	c.719A>C	c.(718-720)gAa>gCa	p.E240A	RN7SL495P_ENST00000461817.2_RNA	NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1	NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1	A6NC78	GOG8I_HUMAN	golgin A8 family, member I	240						Golgi apparatus (GO:0005794)|membrane (GO:0016020)											GAAAGACATGAATATGCTGAA	0.507																																						ENST00000450802.3																			0											c.(718-720)gAa>gCa																																						SO:0001583	missense	283796							g.chr15:23261044A>C	AK093104		15q11.2	2013-01-17	2012-10-05	2012-10-05	ENSG00000153666	ENSG00000277561			26660	other	unknown	"""FLJ35785"""		"""golgi autoantigen, golgin subfamily a, 9 pseudogene"", ""golgin A9, pseudogene"", ""golgin A8 family, member I, pseudogene"""	GOLGA9P, GOLGA8IP			Standard	NR_024074		Approved	FLJ35785	uc001yvh.1	A6NC78	OTTHUMG00000129149	ENST00000450802.3:c.719A>C	15.37:g.23261044A>C	ENSP00000399637:p.Glu240Ala						p.E240A							10	817	+									Missense_Mutation	SNP	ENST00000450802.3	37	c.719A>C		.	.	.	.	.	.	.	.	.	.	.	7.711	0.695236	0.15039	.	.	ENSG00000153666	ENST00000450802	T	0.22336	1.96	0.83	0.83	0.18854	.	.	.	.	.	T	0.29321	0.0730	.	.	.	.	.	.	P	0.50369	0.934	P	0.56042	0.79	T	0.33701	-0.9858	7	0.54805	T	0.06	.	4.0402	0.09748	1.0:0.0:0.0:0.0	.	159	Q8NA68	.	A	240	ENSP00000399637:E240A	ENSP00000399637:E240A	E	+	2	0	GOLGA8IP	20812485	0.001000	0.12720	0.003000	0.11579	0.162000	0.22319	0.288000	0.18939	0.646000	0.30693	0.055000	0.15244	GAA		0.507	GOLGA8I-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251213.2	NR_024074		4	143	0	0	0	1	0	4	143				
LAMA3	3909	broad.mit.edu	37	18	21329485	21329485	+	Missense_Mutation	SNP	G	G	A	rs150204820	byFrequency	TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr18:21329485G>A	ENST00000313654.9	+	4	900	c.659G>A	c.(658-660)cGt>cAt	p.R220H	LAMA3_ENST00000399516.3_Missense_Mutation_p.R220H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	220	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R220H(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GAATATTCCCGTATTGTACCT	0.393													G|||	3	0.000599042	0.0	0.0	5008	,	,		15518	0.003		0.0	False		,,,				2504	0.0					ENST00000313654.9																			1	Substitution - Missense(1)	p.R220H(1)	central_nervous_system(1)	NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(658-660)cGt>cAt		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						82.0	85.0	84.0					18																	21329485		1858	4095	5953	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21329485G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.659G>A	18.37:g.21329485G>A	ENSP00000324532:p.Arg220His					LAMA3_ENST00000399516.3_Missense_Mutation_p.R220H	p.R220H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			4	900	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		220			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.659G>A	CCDS42419.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	36	5.685288	0.96784	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.75821	-0.97;-0.97	5.86	5.86	0.93980	Laminin, N-terminal (3);	.	.	.	.	D	0.87811	0.6271	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.99	D;D;P	0.91635	0.999;0.927;0.901	D	0.88118	0.2830	9	0.72032	D	0.01	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	220;220;220	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	H	220	ENSP00000324532:R220H;ENSP00000382432:R220H	ENSP00000324532:R220H	R	+	2	0	LAMA3	19583483	0.995000	0.38212	0.937000	0.37676	0.989000	0.77384	7.062000	0.76706	2.776000	0.95493	0.655000	0.94253	CGT		0.393	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		7	37	0	0	0	1	0	7	37				
CDK19	23097	broad.mit.edu	37	6	110942543	110942543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr6:110942543G>A	ENST00000368911.3	-	12	1320	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	CDK19_ENST00000413605.2_Nonsense_Mutation_p.Q257*|CDK19_ENST00000323817.3_Nonsense_Mutation_p.Q321*	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	381	Gln-rich.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GCTGTGGGCTGCTGATGCTGG	0.542																																						ENST00000368911.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.(1141-1143)Cag>Tag		cyclin-dependent kinase 19							98.0	112.0	107.0					6																	110942543		2202	4300	6502	SO:0001587	stop_gained	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110942543G>A	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.1141C>T	6.37:g.110942543G>A	ENSP00000357907:p.Gln381*					CDK19_ENST00000323817.3_Nonsense_Mutation_p.Q321*|CDK19_ENST00000413605.2_Nonsense_Mutation_p.Q257*	p.Q381*	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN			12	1320	-			381			Gln-rich.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Nonsense_Mutation	SNP	ENST00000368911.3	37	c.1141C>T	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	G	36	5.955256	0.97145	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605	.	.	.	5.88	5.88	0.94601	.	0.374831	0.28784	N	0.014144	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-11.343	19.8243	0.96610	0.0:0.0:1.0:0.0	.	.	.	.	X	381;321;320;257	.	ENSP00000317665:Q321X	Q	-	1	0	CDK19	111049236	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.016000	0.93645	2.782000	0.95742	0.561000	0.74099	CAG		0.542	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		15	205	0	0	0	1	0	15	205				
SLC26A3	1811	broad.mit.edu	37	7	107432375	107432375	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr7:107432375A>T	ENST00000340010.5	-	4	466	c.282T>A	c.(280-282)ttT>ttA	p.F94L	SLC26A3_ENST00000422236.2_Missense_Mutation_p.F59L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	94					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CCAGCAGAGCAAATGCTAAAC	0.443																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(280-282)ttT>ttA		solute carrier family 26 (anion exchanger), member 3							103.0	84.0	91.0					7																	107432375		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107432375A>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.282T>A	7.37:g.107432375A>T	ENSP00000345873:p.Phe94Leu					SLC26A3_ENST00000422236.2_Missense_Mutation_p.F59L	p.F94L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			4	466	-			94						Missense_Mutation	SNP	ENST00000340010.5	37	c.282T>A	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455986	0.84209	.	.	ENSG00000091138	ENST00000422236;ENST00000340010;ENST00000453332	D;D;D	0.91521	-2.86;-2.86;-2.86	5.56	4.42	0.53409	.	0.152839	0.64402	D	0.000015	D	0.91385	0.7282	L	0.53617	1.68	0.36935	D	0.892087	D;D	0.63880	0.993;0.971	P;P	0.56648	0.758;0.803	D	0.92456	0.5974	10	0.46703	T	0.11	.	10.9046	0.47073	0.9266:0.0:0.0734:0.0	.	59;94	G5E9U3;P40879	.;S26A3_HUMAN	L	59;94;94	ENSP00000415817:F59L;ENSP00000345873:F94L;ENSP00000395955:F94L	ENSP00000345873:F94L	F	-	3	2	SLC26A3	107219611	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	3.354000	0.52254	2.112000	0.64535	0.383000	0.25322	TTT		0.443	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		7	54	0	0	0	1	0	7	54				
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	45										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(133-135)ggC>ggG																																						SO:0001819	synonymous_variant	284802							g.chr20:29625891C>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.135C>G	20.37:g.29625891C>G						FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G	p.G45G							5	515	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.135C>G																																																																																					0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	122	0	0	0	1	0	4	122				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	62	0	0	0	1	0	4	62				
MLLT3	4300	broad.mit.edu	37	9	20414295	20414295	+	Silent	SNP	G	G	A	rs62637688		TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr9:20414295G>A	ENST00000380338.4	-	5	835	c.549C>T	c.(547-549)agC>agT	p.S183S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S180S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	183	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.522			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(547-549)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							46.0	54.0	51.0					9																	20414295		2203	4299	6502	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414295G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.549C>T	9.37:g.20414295G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S180S	p.S183S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	835	-			183			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.549C>T	CCDS6494.1																																																																																				0.522	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	98	0	0	0	1	0	4	98				
C9orf84	158401	broad.mit.edu	37	9	114484733	114484733	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr9:114484733A>G	ENST00000318737.4	-	13	2023	c.1895T>C	c.(1894-1896)cTc>cCc	p.L632P	C9orf84_ENST00000394777.4_Missense_Mutation_p.L593P|C9orf84_ENST00000374287.3_Missense_Mutation_p.L632P|C9orf84_ENST00000394779.3_Missense_Mutation_p.L593P	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	632										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCCTTTAAGAGAAACCTTGT	0.348																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1777-1779)cTc>cCc		chromosome 9 open reading frame 84							97.0	97.0	97.0					9																	114484733		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114484733A>G	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1895T>C	9.37:g.114484733A>G	ENSP00000322108:p.Leu632Pro					C9orf84_ENST00000394777.4_Missense_Mutation_p.L593P|C9orf84_ENST00000374287.3_Missense_Mutation_p.L632P|C9orf84_ENST00000318737.4_Missense_Mutation_p.L632P	p.L593P	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			11	2022	-			632					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.1778T>C	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276988	0.80580	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.08634	3.07;3.2;3.09;3.09	5.8	5.8	0.92144	.	0.420814	0.20241	N	0.096285	T	0.16385	0.0394	N	0.24115	0.695	0.58432	D	0.999991	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.61592	0.891;0.891;0.891	T	0.02031	-1.1226	10	0.87932	D	0	-0.659	16.1484	0.81586	1.0:0.0:0.0:0.0	.	593;632;593	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	P	593;593;246;632;632	ENSP00000378259:L593P;ENSP00000378257:L593P;ENSP00000363405:L632P;ENSP00000322108:L632P	ENSP00000322108:L632P	L	-	2	0	C9orf84	113524554	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.837000	0.69381	2.226000	0.72624	0.459000	0.35465	CTC		0.348	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		20	75	0	0	0	1	0	20	75				
SIPA1L2	57568	broad.mit.edu	37	1	232600987	232600987	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr1:232600987C>G	ENST00000366630.1	-	8	2777	c.2419G>C	c.(2419-2421)Gag>Cag	p.E807Q	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E807Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	807	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCAAGTACTCCTGCCTCGTT	0.478																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2419-2421)Gag>Cag		signal-induced proliferation-associated 1 like 2							112.0	111.0	112.0					1																	232600987		1967	4166	6133	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232600987C>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2419G>C	1.37:g.232600987C>G	ENSP00000355589:p.Glu807Gln					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E807Q	p.E807Q			Q9P2F8	SI1L2_HUMAN			8	2777	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	807			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2419G>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906326	0.92107	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.57752	0.38;0.38	5.8	5.8	0.92144	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	T	0.68302	0.2986	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63292	-0.6670	10	0.36615	T	0.2	-38.924	20.053	0.97634	0.0:1.0:0.0:0.0	.	807	Q9P2F8	SI1L2_HUMAN	Q	807	ENSP00000355589:E807Q;ENSP00000262861:E807Q	ENSP00000262861:E807Q	E	-	1	0	SIPA1L2	230667610	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.818000	0.86416	2.733000	0.93635	0.650000	0.86243	GAG		0.478	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		6	167	0	0	0	1	0	6	167				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	64	0	0	0	1	0	3	64				
ZEB2	9839	broad.mit.edu	37	2	145157124	145157124	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:145157124T>C	ENST00000558170.2	-	8	2814	c.1630A>G	c.(1630-1632)Act>Gct	p.T544A	ZEB2_ENST00000409487.3_Missense_Mutation_p.T544A|ZEB2_ENST00000539609.3_Missense_Mutation_p.T520A|ZEB2_ENST00000303660.4_Missense_Mutation_p.T544A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	544					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTCAGTAGTCAAGCTCTGG	0.388																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(1630-1632)Act>Gct		zinc finger E-box binding homeobox 2							110.0	112.0	112.0					2																	145157124		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157124T>C	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1630A>G	2.37:g.145157124T>C	ENSP00000454157:p.Thr544Ala					ZEB2_ENST00000303660.4_Missense_Mutation_p.T544A|ZEB2_ENST00000409487.3_Missense_Mutation_p.T544A|ZEB2_ENST00000539609.3_Missense_Mutation_p.T520A	p.T544A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2814	-			544					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1630A>G	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617976	0.46736	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.83303	0.5225	L	0.39898	1.24	0.58432	D	0.999996	P;P;P;D	0.63046	0.744;0.93;0.868;0.992	P;P;P;D	0.77004	0.669;0.504;0.504;0.989	T	0.82602	-0.0376	10	0.38643	T	0.18	-10.4949	16.0439	0.80704	0.0:0.0:0.0:1.0	.	520;409;543;544	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	A	520;544;544;544	ENSP00000443792:T520A;ENSP00000302501:T544A;ENSP00000386854:T544A;ENSP00000395496:T544A	ENSP00000302501:T544A	T	-	1	0	ZEB2	144873594	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.286000	0.72665	2.180000	0.69256	0.528000	0.53228	ACT		0.388	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		17	85	0	0	0	1	0	17	85				
GAK	2580	broad.mit.edu	37	4	843541	843541	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr4:843541G>A	ENST00000314167.4	-	28	3966	c.3856C>T	c.(3856-3858)Cag>Tag	p.Q1286*	GAK_ENST00000511163.1_Nonsense_Mutation_p.Q1207*|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1286	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TTGGCGTGCTGCTCGTACGGC	0.677																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3856-3858)Cag>Tag		cyclin G associated kinase							51.0	49.0	49.0					4																	843541		2203	4300	6503	SO:0001587	stop_gained	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:843541G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3856C>T	4.37:g.843541G>A	ENSP00000314499:p.Gln1286*					GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Nonsense_Mutation_p.Q1207*	p.Q1286*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	28	3966	-			1286			J.		Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	c.3856C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570306	0.65765	.	.	ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163	.	.	.	4.76	4.76	0.60689	.	0.176413	0.41712	D	0.000840	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-31.7985	15.2715	0.73705	0.0:0.0:1.0:0.0	.	.	.	.	X	562;1286;1207	.	ENSP00000314499:Q1286X	Q	-	1	0	GAK	833541	1.000000	0.71417	0.924000	0.36721	0.102000	0.19082	5.967000	0.70403	2.167000	0.68274	0.643000	0.83706	CAG		0.677	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		4	45	0	0	0	1	0	4	45				
CHRM3	1131	broad.mit.edu	37	1	240072244	240072244	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr1:240072244T>G	ENST00000255380.4	+	5	2272	c.1493T>G	c.(1492-1494)cTt>cGt	p.L498R		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	498					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCGATCTTGCTTGCCTTCATC	0.493																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(1492-1494)cTt>cGt		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						157.0	141.0	147.0					1																	240072244		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072244T>G	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1493T>G	1.37:g.240072244T>G	ENSP00000255380:p.Leu498Arg						p.L498R	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2272	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	498					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1493T>G	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.744112	0.69418	.	.	ENSG00000133019	ENST00000255380	T	0.46063	0.88	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.248418	0.38272	N	0.001751	T	0.66446	0.2790	M	0.79475	2.455	0.58432	D	0.999994	D	0.76494	0.999	D	0.74023	0.982	T	0.70532	-0.4846	10	0.87932	D	0	-12.4968	16.4473	0.83942	0.0:0.0:0.0:1.0	.	498	P20309	ACM3_HUMAN	R	498	ENSP00000255380:L498R	ENSP00000255380:L498R	L	+	2	0	CHRM3	238138867	1.000000	0.71417	0.816000	0.32577	0.985000	0.73830	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	CTT		0.493	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		34	80	0	0	0	1	0	34	80				
SLC1A3	6507	broad.mit.edu	37	5	36629602	36629602	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr5:36629602G>T	ENST00000265113.4	+	3	708	c.232G>T	c.(232-234)Gtc>Ttc	p.V78F	SLC1A3_ENST00000381918.3_Missense_Mutation_p.V78F	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	78					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTACCGGGAAGTCAAGTACTT	0.398																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(232-234)Gtc>Ttc		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)						207.0	188.0	195.0					5																	36629602		2203	4300	6503	SO:0001583	missense	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36629602G>T		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.232G>T	5.37:g.36629602G>T	ENSP00000265113:p.Val78Phe					SLC1A3_ENST00000381918.3_Missense_Mutation_p.V78F	p.V78F	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	708	+	all_lung(31;0.000245)		78					B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	c.232G>T	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933179	0.73442	.	.	ENSG00000079215	ENST00000265113;ENST00000513903;ENST00000505202;ENST00000513646;ENST00000381918	T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21	6.06	5.19	0.71726	.	0.188443	0.46758	D	0.000277	T	0.58680	0.2139	L	0.45137	1.4	0.49389	D	0.999784	P;P	0.42078	0.466;0.77	B;P	0.48921	0.396;0.595	T	0.62120	-0.6921	10	0.72032	D	0.01	-14.9027	11.3529	0.49598	0.1376:0.0:0.8624:0.0	.	78;78	Q4JCQ8;P43003	.;EAA1_HUMAN	F	78	ENSP00000265113:V78F;ENSP00000427203:V78F;ENSP00000424986:V78F;ENSP00000420992:V78F;ENSP00000371343:V78F	ENSP00000265113:V78F	V	+	1	0	SLC1A3	36665359	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	2.662000	0.46766	1.584000	0.49913	0.655000	0.94253	GTC		0.398	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		13	117	1	0	4.3838e-07	1	4.83342e-07	13	117				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	40	0	0	0	1	0	5	40				
NAGK	55577	broad.mit.edu	37	2	71305537	71305538	+	Missense_Mutation	DNP	GC	GC	TT	rs559948418		TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:71305537_71305538GC>TT	ENST00000244204.6	+	10	996_997	c.934_935GC>TT	c.(934-936)GCt>TTt	p.A312F	NAGK_ENST00000443872.2_Missense_Mutation_p.A164F|NAGK_ENST00000455662.2_Missense_Mutation_p.A358F|NAGK_ENST00000418807.3_Missense_Mutation_p.A261F|NAGK_ENST00000443938.2_Missense_Mutation_p.A308F			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	312					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GCACTCCTCCGCTCTGGGTGGG	0.584																																						ENST00000418807.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18						c.(781-783)Gct>Tct|c.(781-783)gCt>gTt		N-acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)																																			SO:0001583	missense	55577				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	g.chr2:71305537G>T|g.chr2:71305538C>T	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	Exception_encountered	2.37:g.71305537_71305538delinsTT	ENSP00000244204:p.Ala312Phe					NAGK_ENST00000244204.5_Missense_Mutation_p.A312S|NAGK_ENST00000455662.2_Missense_Mutation_p.A358S|NAGK_ENST00000244204.5_Missense_Mutation_p.A312V|NAGK_ENST00000455662.2_Missense_Mutation_p.A358V	p.A261S|p.A261V			Q9UJ70	NAGK_HUMAN			9	945|946	+			312					B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	37	c.781G>T|c.782C>T																																																																																					0.584	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			6|5	28|29	1|0	0	0.00198382|0	1	0.00203105|0	5	28				
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T	rs374250838|rs369805878|rs199562278	byFrequency	TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292														393	0.0784744	0.1354	0.0533	5008	,	,		61150	0.0546		0.0567	False		,,,				2504	0.0665					ENST00000436174.1																			0																																																			0							g.chr2:91887905_91887906insT																													2.37:g.91887916_91887916dupT														0	540	-									RNA	INS	ENST00000436174.1	37																																																																																						0.292	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			8	28						8	28	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100606304	100606304	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr7:100606304delG	ENST00000319509.7	+	3	1820	c.1820delG	c.(1819-1821)tggfs	p.W607fs	RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2272	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AAGACCTTCTGGAATCAGGTA	0.483																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(1819-1821)tgfs		mucin 3A, cell surface associated							9.0	8.0	8.0					7																	100606304		873	1973	2846	SO:0001589	frameshift_variant	4584							g.chr7:100606304delG	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1820delG	7.37:g.100606304delG	ENSP00000324834:p.Trp607fs						p.W607fs							3	1820	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Frame_Shift_Del	DEL	ENST00000319509.7	37	c.1820delG																																																																																					0.483	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		2	4						2	4	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149505750	149505751	+	RNA	DEL	CT	CT	-			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr7:149505750_149505751delCT	ENST00000378016.2	+	0	9121							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGGTGAGAGCTGGGACTGAGG	0.594																																						ENST00000378016.2																			0													SCO-spondin																																						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149505750_149505751delCT	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149505750_149505751delCT										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	9121	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.594	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				2	4						2	4	---	---	---	---
