#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
ANKAR	150709	broad.mit.edu	37	2	190541595	190541595	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr2:190541595G>T	ENST00000520309.1	+	2	467	c.379G>T	c.(379-381)Gat>Tat	p.D127Y	ANKAR_ENST00000313581.4_Missense_Mutation_p.D127Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.D127Y|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000431575.2_Missense_Mutation_p.D56Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	127						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGCTAATTATGATCAGAGTTC	0.368																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(379-381)Gat>Tat		ankyrin and armadillo repeat containing							96.0	99.0	98.0					2																	190541595		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190541595G>T	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.379G>T	2.37:g.190541595G>T	ENSP00000427882:p.Asp127Tyr					ANKAR_ENST00000431575.2_Missense_Mutation_p.D56Y|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.D127Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.D127Y|ANKAR_ENST00000461516.1_Intron	p.D127Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		2	467	+			127					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.379G>T	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261941	0.80358	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575	T;T;T;T	0.62639	0.06;0.06;0.01;0.08	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000032	T	0.78426	0.4281	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79181	-0.1909	10	0.87932	D	0	-26.7829	18.851	0.92230	0.0:0.0:1.0:0.0	.	127	Q7Z5J8	ANKAR_HUMAN	Y	127;127;127;56	ENSP00000427882:D127Y;ENSP00000313513:D127Y;ENSP00000397243:D127Y;ENSP00000393043:D56Y	ENSP00000313513:D127Y	D	+	1	0	ANKAR	190249840	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.877000	0.69675	2.747000	0.94245	0.650000	0.86243	GAT		0.368	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		50	29	1	0	1.67211e-32	1	1.96877e-32	50	29				
ACY1	95	broad.mit.edu	37	3	52019884	52019884	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr3:52019884A>C	ENST00000404366.2	+	5	427	c.281A>C	c.(280-282)gAc>gCc	p.D94A	ACY1_ENST00000476854.1_Missense_Mutation_p.D94A|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.D195A|ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000494103.1_Missense_Mutation_p.D94A|ABHD14B_ENST00000483233.1_5'Flank|ACY1_ENST00000458031.2_Missense_Mutation_p.D184A|ACY1_ENST00000476351.1_Missense_Mutation_p.D59A	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	94					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	TGGAGTCACGACCCCTTTGAG	0.557																																						ENST00000458031.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(550-552)gAc>gCc		aminoacylase 1	L-Aspartic Acid(DB00128)						87.0	67.0	74.0					3																	52019884		2203	4300	6503	SO:0001583	missense	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52019884A>C	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.281A>C	3.37:g.52019884A>C	ENSP00000384296:p.Asp94Ala					ACY1_ENST00000476351.1_Missense_Mutation_p.D59A|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.D195A|ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000476854.1_Missense_Mutation_p.D94A|ACY1_ENST00000494103.1_Missense_Mutation_p.D94A|ACY1_ENST00000404366.2_Missense_Mutation_p.D94A	p.D184A			Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	7	782	+			94					C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	ENST00000404366.2	37	c.551A>C	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300445	0.60195	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366;ENST00000469863	D;D;D;D;T;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;2.79;-1.84;-1.84	4.97	3.79	0.43588	.	0.259903	0.37577	N	0.002037	D	0.86368	0.5916	M	0.76002	2.32	0.36436	D	0.865207	B;P;P	0.41524	0.147;0.753;0.695	B;P;B	0.45794	0.059;0.493;0.437	D	0.87381	0.2357	10	0.48119	T	0.1	-4.113	11.431	0.50041	0.5738:0.4262:0.0:0.0	.	94;184;94	B4DPC3;B4DNW0;Q03154	.;.;ACY1_HUMAN	A	184;195;94;94;59;94;94;103	ENSP00000390557:D184A;ENSP00000420487:D195A;ENSP00000419262:D94A;ENSP00000417056:D59A;ENSP00000417618:D94A;ENSP00000384296:D94A;ENSP00000419830:D103A	ENSP00000384296:D94A	D	+	2	0	ACY1;RP11-155D18.11	51994924	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	4.250000	0.58772	0.724000	0.32296	0.456000	0.33151	GAC		0.557	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		5	15	0	0	0	1	0	5	15				
GAK	2580	broad.mit.edu	37	4	845557	845557	+	Silent	SNP	C	C	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr4:845557C>A	ENST00000314167.4	-	25	3599	c.3489G>T	c.(3487-3489)ggG>ggT	p.G1163G	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.G1084G	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1163					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)		GTGCGCGGACCCCCCGCTCCT	0.597																																						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.(3487-3489)ggG>ggT		cyclin G associated kinase							37.0	42.0	40.0					4																	845557		2203	4293	6496	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:845557C>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.3489G>T	4.37:g.845557C>A						GAK_ENST00000511163.1_Silent_p.G1084G|GAK_ENST00000509566.1_5'UTR	p.G1163G	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	25	3599	-			1163					Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.3489G>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	c	0.558	-0.846428	0.02671	.	.	ENSG00000178950	ENST00000511980	T	0.21361	2.01	5.21	-7.78	0.01223	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32025	-0.9922	7	0.44086	T	0.13	-35.0772	4.6632	0.12652	0.3836:0.4037:0.1284:0.0842	.	.	.	.	V	319	ENSP00000421049:G319V	ENSP00000421049:G319V	G	-	2	0	GAK	835557	0.000000	0.05858	0.016000	0.15963	0.218000	0.24690	-3.558000	0.00431	-2.210000	0.00738	-0.908000	0.02827	GGG		0.597	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		20	28	1	0	2.89027e-11	1	3.1491e-11	20	28				
PTER	9317	broad.mit.edu	37	10	16553115	16553115	+	Missense_Mutation	SNP	C	C	T	rs183203379	byFrequency	TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr10:16553115C>T	ENST00000378000.1	+	6	1156	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	PTER_ENST00000535784.2_Missense_Mutation_p.R304W|PTER_ENST00000298942.3_Missense_Mutation_p.R304W|PTER_ENST00000423462.2_Missense_Mutation_p.R257W	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	304					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TACGAAAACCCGGCTGATGAA	0.423													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19704	0.001		0.0	False		,,,				2504	0.0				Ovarian(2;46 150 15648 38137 47908)	ENST00000378000.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						c.(910-912)Cgg>Tgg		phosphotriesterase related							130.0	118.0	122.0					10																	16553115		2203	4300	6503	SO:0001583	missense	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16553115C>T	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.910C>T	10.37:g.16553115C>T	ENSP00000367239:p.Arg304Trp					PTER_ENST00000423462.2_Missense_Mutation_p.R257W|PTER_ENST00000535784.2_Missense_Mutation_p.R304W|PTER_ENST00000298942.3_Missense_Mutation_p.R304W	p.R304W	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN			6	1156	+			304					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	c.910C>T	CCDS7111.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.28	2.785289	0.49997	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.49720	0.77;0.91;0.77;0.77	5.56	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79396	-0.1821	10	0.49607	T	0.09	-21.8694	12.9793	0.58554	0.4391:0.5609:0.0:0.0	.	257;304	Q96BW5-2;Q96BW5	.;PTER_HUMAN	W	304;304;257;304;304	ENSP00000439485:R304W;ENSP00000389535:R257W;ENSP00000367239:R304W;ENSP00000298942:R304W	ENSP00000298942:R304W	R	+	1	2	PTER	16593121	0.999000	0.42202	0.993000	0.49108	0.395000	0.30598	1.561000	0.36342	1.443000	0.47586	0.603000	0.83216	CGG		0.423	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		22	20	0	0	0	1	0	22	20				
FAM66D	100132923	broad.mit.edu	37	8	11986193	11986193	+	RNA	SNP	T	T	C			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr8:11986193T>C	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		AGACACTTGATTTGAGATCTC	0.493																																						ENST00000434078.2																			0																																																			0							g.chr8:11986193T>C			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11986193T>C								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.493	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		13	25	0	0	0	1	0	13	25				
SPTA1	6708	broad.mit.edu	37	1	158597474	158597474	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:158597474C>A	ENST00000368147.4	-	40	5785	c.5605G>T	c.(5605-5607)Gct>Tct	p.A1869S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1869					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATGGACAGCAAAGTCATTT	0.403																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5605-5607)Gct>Tct		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							181.0	163.0	169.0					1																	158597474		1875	4103	5978	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158597474C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5605G>T	1.37:g.158597474C>A	ENSP00000357129:p.Ala1869Ser					SPTA1_ENST00000368147.3_Missense_Mutation_p.A1869S|SPTA1_ENST00000461624.1_5'UTR	p.A1869S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			40	5785	-	all_hematologic(112;0.0378)		1869					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5605G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279723	0.40294	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52983	0.64;0.64	5.55	4.64	0.57946	.	0.000000	0.32120	N	0.006555	T	0.20740	0.0499	L	0.58583	1.82	0.32803	D	0.50042	B	0.29115	0.233	B	0.26310	0.068	T	0.09037	-1.0693	10	0.18710	T	0.47	.	7.2528	0.26158	0.0:0.7577:0.0:0.2423	.	1869	P02549	SPTA1_HUMAN	S	1869	ENSP00000357130:A1869S;ENSP00000357129:A1869S	ENSP00000357129:A1869S	A	-	1	0	SPTA1	156864098	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.826000	0.48104	1.586000	0.49944	0.655000	0.94253	GCT		0.403	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		33	92	1	0	2.66277e-13	1	2.99049e-13	33	92				
RARB	5915	broad.mit.edu	37	3	25611284	25611284	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr3:25611284A>T	ENST00000404969.1	+	4	505	c.505A>T	c.(505-507)Act>Tct	p.T169S	RARB_ENST00000437042.2_Missense_Mutation_p.T50S|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.T50S|RARB_ENST00000330688.4_Missense_Mutation_p.T162S			P10826	RARB_HUMAN	retinoic acid receptor, beta	169	Hinge.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AAAGAAGGAGACTTCGAAGCA	0.502																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(484-486)Act>Tct		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						111.0	110.0	110.0					3																	25611284		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25611284A>T	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.505A>T	3.37:g.25611284A>T	ENSP00000385865:p.Thr169Ser					RARB_ENST00000458646.1_Missense_Mutation_p.T50S|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Missense_Mutation_p.T169S|RARB_ENST00000437042.2_Missense_Mutation_p.T50S	p.T162S	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			4	905	+			169			Hinge.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.484A>T		.	.	.	.	.	.	.	.	.	.	A	9.549	1.115306	0.20795	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	4.57	3.68	0.42216	Nuclear hormone receptor, ligand-binding (2);	0.366971	0.29321	N	0.012496	T	0.15003	0.0362	N	0.08118	0	0.22896	N	0.998595	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16012	-1.0417	10	0.09590	T	0.72	.	14.0685	0.64847	0.1582:0.8418:0.0:0.0	.	169;162	P10826;F1D8S6	RARB_HUMAN;.	S	169;169;169;50;162;50	ENSP00000373282:T169S;ENSP00000385865:T169S;ENSP00000398840:T50S;ENSP00000332296:T162S;ENSP00000391391:T50S	ENSP00000332296:T162S	T	+	1	0	RARB	25586288	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.642000	0.46596	1.249000	0.43950	-0.396000	0.06452	ACT		0.502	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		22	13	0	0	0	1	0	22	13				
DIP2C	22982	broad.mit.edu	37	10	373036	373036	+	Silent	SNP	C	C	T	rs374923846		TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr10:373036C>T	ENST00000280886.6	-	31	3921	c.3834G>A	c.(3832-3834)tcG>tcA	p.S1278S		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1278						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCTTTGAGAACGACTGTGTGA	0.597																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3832-3834)tcG>tcA		DIP2 disco-interacting protein 2 homolog C (Drosophila)		C		0,4406		0,0,2203	86.0	71.0	77.0		3834	-11.6	0.0	10		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DIP2C	NM_014974.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1278/1557	373036	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:373036C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3834G>A	10.37:g.373036C>T							p.S1278S	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	31	3921	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1278					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.3834G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	7.941	0.742876	0.15642	0.0	1.16E-4	ENSG00000151240	ENST00000434695	.	.	.	5.8	-11.6	0.00059	.	.	.	.	.	T	0.33118	0.0852	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57751	-0.7757	4	.	.	.	-27.1912	2.5564	0.04761	0.3921:0.1628:0.0731:0.372	.	.	.	.	I	84	.	.	V	-	1	0	DIP2C	363036	0.000000	0.05858	0.004000	0.12327	0.839000	0.47603	-2.966000	0.00670	-5.092000	0.00022	-0.225000	0.12378	GTT		0.597	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		3	29	0	0	0	1	0	3	29				
PCDHB8	56128	broad.mit.edu	37	5	140559154	140559154	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr5:140559154C>G	ENST00000239444.2	+	1	1784	c.1539C>G	c.(1537-1539)caC>caG	p.H513Q	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	513	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACGGCCACCTGTTCGCCC	0.687																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1537-1539)caC>caG									90.0	145.0	126.0					5																	140559154		2202	4296	6498	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559154C>G	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1539C>G	5.37:g.140559154C>G	ENSP00000239444:p.His513Gln						p.H513Q	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1784	+			513			Cadherin 5.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1539C>G	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.216299	0.00286	.	.	ENSG00000120322	ENST00000239444	T	0.01705	4.68	4.22	-2.7	0.06004	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00875	0.0029	N	0.02985	-0.445	0.09310	N	1	B	0.12630	0.006	B	0.16722	0.016	T	0.48433	-0.9036	9	0.22109	T	0.4	.	8.426	0.32729	0.0:0.2262:0.5916:0.1822	.	513	Q9UN66	PCDB8_HUMAN	Q	513	ENSP00000239444:H513Q	ENSP00000239444:H513Q	H	+	3	2	PCDHB8	140539338	0.000000	0.05858	0.935000	0.37517	0.225000	0.24961	-2.986000	0.00660	-0.363000	0.08101	0.298000	0.19748	CAC		0.687	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		24	82	0	0	0	1	0	24	82				
SLITRK2	84631	broad.mit.edu	37	X	144904183	144904183	+	Silent	SNP	C	C	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chrX:144904183C>T	ENST00000370490.1	+	1	4495	c.240C>T	c.(238-240)aaC>aaT	p.N80N	SLITRK2_ENST00000428560.2_Silent_p.N80N|SLITRK2_ENST00000413937.2_Silent_p.N80N|SLITRK2_ENST00000434188.2_Silent_p.N80N|SLITRK2_ENST00000447897.2_Silent_p.N80N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	80					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGTATCCAAACGAATTTGTCA	0.458																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(238-240)aaC>aaT		SLIT and NTRK-like family, member 2							93.0	86.0	89.0					X																	144904183		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144904183C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.240C>T	X.37:g.144904183C>T						SLITRK2_ENST00000447897.2_Silent_p.N80N|SLITRK2_ENST00000434188.2_Silent_p.N80N|SLITRK2_ENST00000428560.2_Silent_p.N80N|SLITRK2_ENST00000413937.2_Silent_p.N80N	p.N80N			Q9H156	SLIK2_HUMAN			1	4495	+	Acute lymphoblastic leukemia(192;6.56e-05)		80					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.240C>T	CCDS14680.1																																																																																				0.458	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		7	68	0	0	0	1	0	7	68				
OR4C6	219432	broad.mit.edu	37	11	55433001	55433001	+	Missense_Mutation	SNP	G	G	A	rs137985207		TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:55433001G>A	ENST00000314259.3	+	1	388	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GCCTATGACCGCTACGTGGCC	0.552													g|||	1	0.000199681	0.0	0.0014	5008	,	,		17869	0.0		0.0	False		,,,				2504	0.0					ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(358-360)cGc>cAc		olfactory receptor, family 4, subfamily C, member 6		G	HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	109.0	99.0	102.0		359	3.8	1.0	11	dbSNP_134	102	23,8569	16.6+/-54.9	0,23,4273	no	missense	OR4C6	NM_001004704.1	29	0,24,6472	AA,AG,GG		0.2677,0.0227,0.1847	probably-damaging	120/310	55433001	24,12968	2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433001G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.359G>A	11.37:g.55433001G>A	ENSP00000324769:p.Arg120His						p.R120H	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	388	+			120					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.359G>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278524	0.59758	2.27E-4	0.002677	ENSG00000181903	ENST00000314259	T	0.77489	-1.1	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.399974	0.18426	N	0.141590	T	0.80199	0.4579	M	0.86864	2.845	0.32925	D	0.516392	B	0.25272	0.122	B	0.20184	0.028	D	0.84928	0.0858	10	0.59425	D	0.04	.	14.3385	0.66608	0.0:0.0:1.0:0.0	.	120	Q8NH72	OR4C6_HUMAN	H	120	ENSP00000324769:R120H	ENSP00000324769:R120H	R	+	2	0	OR4C6	55189577	0.993000	0.37304	0.999000	0.59377	0.880000	0.50808	5.036000	0.64164	1.693000	0.51124	0.536000	0.68110	CGC		0.552	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		14	57	0	0	0	1	0	14	57				
KMO	8564	broad.mit.edu	37	1	241723980	241723980	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:241723980C>A	ENST00000366559.4	+	6	688	c.377C>A	c.(376-378)cCc>cAc	p.P126H	KMO_ENST00000366557.4_Missense_Mutation_p.P126H|KMO_ENST00000366558.3_Missense_Mutation_p.P126H|KMO_ENST00000484628.1_3'UTR	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GAGAAATACCCCAATGTGAAA	0.383																																						ENST00000366559.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(376-378)cCc>cAc		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							96.0	94.0	95.0					1																	241723980		2203	4300	6503	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241723980C>A	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.377C>A	1.37:g.241723980C>A	ENSP00000355517:p.Pro126His					KMO_ENST00000366557.4_Missense_Mutation_p.P126H|KMO_ENST00000366558.3_Missense_Mutation_p.P126H|KMO_ENST00000484628.1_3'UTR	p.P126H	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		6	688	+	Ovarian(103;0.103)|all_lung(81;0.23)		126						Missense_Mutation	SNP	ENST00000366559.4	37	c.377C>A	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876456	0.51801	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.54675	0.56;0.56;0.56	5.77	5.77	0.91146	Monooxygenase, FAD-binding (1);	0.290613	0.44688	D	0.000425	T	0.73598	0.3607	M	0.81614	2.55	0.47214	D	0.999359	D;D;D	0.65815	0.995;0.981;0.986	D;D;P	0.65233	0.933;0.909;0.792	T	0.75819	-0.3183	10	0.72032	D	0.01	.	17.8364	0.88699	0.0:1.0:0.0:0.0	.	126;126;126	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	H	126	ENSP00000355517:P126H;ENSP00000355516:P126H;ENSP00000355515:P126H	ENSP00000355515:P126H	P	+	2	0	KMO	239790603	0.999000	0.42202	0.107000	0.21349	0.062000	0.15995	5.446000	0.66600	2.884000	0.98904	0.655000	0.94253	CCC		0.383	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		14	39	1	0	8.60227e-14	1	9.81197e-14	14	39				
DYRK4	8798	broad.mit.edu	37	12	4722817	4722817	+	Silent	SNP	G	G	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr12:4722817G>A	ENST00000540757.2	+	13	1621	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000543431.1_Silent_p.K486K|DYRK4_ENST00000010132.5_Silent_p.K487K|DYRK4_ENST00000545342.1_Silent_p.K124K	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	487						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACGCTCCCAAGAAGTCAGAGG	0.537																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1459-1461)aaG>aaA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							58.0	57.0	58.0					12																	4722817		2203	4300	6503	SO:0001819	synonymous_variant	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4722817G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1461G>A	12.37:g.4722817G>A						DYRK4_ENST00000010132.5_Silent_p.K487K|DYRK4_ENST00000545342.1_Silent_p.K124K|DYRK4_ENST00000543431.1_Silent_p.K486K	p.K487K	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		13	1621	+			487					A8K8F7|Q8NEF2|Q92631	Silent	SNP	ENST00000540757.2	37	c.1461G>A	CCDS8530.1																																																																																				0.537	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			13	38	0	0	0	1	0	13	38				
MIR193BHG	100129781	broad.mit.edu	37	16	14397851	14397851	+	lincRNA	SNP	C	C	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr16:14397851C>T	ENST00000570945.1	+	0	310				MIR193B_ENST00000384907.1_RNA																							GTTTTGAGGGCGAGATGAGTT	0.572																																						ENST00000570945.1																			0																				165.0	165.0	165.0					16																	14397851		1568	3582	5150			0							g.chr16:14397851C>T																													16.37:g.14397851C>T						MIR193B_ENST00000384907.1_RNA								0	310	+									RNA	SNP	ENST00000570945.1	37																																																																																						0.572	RP11-65J21.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436878.1			5	170	0	0	0	1	0	5	170				
SLC6A1	6529	broad.mit.edu	37	3	11070441	11070441	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr3:11070441G>A	ENST00000287766.4	+	11	1520	c.1099G>A	c.(1099-1101)Gca>Aca	p.A367T	SLC6A1_ENST00000536032.1_Missense_Mutation_p.A189T	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	367					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GGCGTTCCTGGCATACCCAGA	0.542																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1099-1101)Gca>Aca		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						49.0	47.0	48.0					3																	11070441		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11070441G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1099G>A	3.37:g.11070441G>A	ENSP00000287766:p.Ala367Thr					SLC6A1_ENST00000536032.1_Missense_Mutation_p.A189T	p.A367T	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	11	1520	+		Ovarian(110;0.0392)	367					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.1099G>A	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	36	5.772061	0.96922	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.73789	-0.78;-0.78	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000004	T	0.80859	0.4704	L	0.54863	1.705	0.80722	D	1	B	0.33413	0.411	P	0.46339	0.513	T	0.80259	-0.1457	10	0.87932	D	0	.	20.0299	0.97533	0.0:0.0:1.0:0.0	.	367	P30531	SC6A1_HUMAN	T	367;189	ENSP00000287766:A367T;ENSP00000445171:A189T	ENSP00000287766:A367T	A	+	1	0	SLC6A1	11045441	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.640000	0.98453	2.748000	0.94277	0.655000	0.94253	GCA		0.542	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		3	34	0	0	0	1	0	3	34				
KIAA1244	57221	broad.mit.edu	37	6	138617968	138617968	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr6:138617968A>G	ENST00000251691.4	+	21	3690	c.3524A>G	c.(3523-3525)gAc>gGc	p.D1175G		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCCACTCAAGACCGAAAAAGC	0.522																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(3523-3525)gAc>gGc		KIAA1244							140.0	143.0	142.0					6																	138617968		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138617968A>G	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3524A>G	6.37:g.138617968A>G	ENSP00000251691:p.Asp1175Gly						p.D1175G	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	21	3690	+	Breast(32;0.135)		1175						Missense_Mutation	SNP	ENST00000251691.4	37	c.3524A>G	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444841	0.63178	.	.	ENSG00000112379	ENST00000251691	T	0.18810	2.19	5.87	5.87	0.94306	.	0.044813	0.85682	D	0.000000	T	0.10035	0.0246	L	0.44542	1.39	0.53688	D	0.999975	B	0.21071	0.051	B	0.15052	0.012	T	0.07908	-1.0748	10	0.23302	T	0.38	-37.4728	16.2723	0.82628	1.0:0.0:0.0:0.0	.	1175	Q5TH69	BIG3_HUMAN	G	1175	ENSP00000251691:D1175G	ENSP00000251691:D1175G	D	+	2	0	KIAA1244	138659661	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	7.300000	0.78841	2.239000	0.73571	0.533000	0.62120	GAC		0.522	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		4	89	0	0	0	1	0	4	89				
DDB1	1642	broad.mit.edu	37	11	61068375	61068375	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:61068375G>T	ENST00000301764.7	-	26	3642	c.3245C>A	c.(3244-3246)aCa>aAa	p.T1082K	DDB1_ENST00000538470.1_Missense_Mutation_p.T129K|DDB1_ENST00000450997.2_Missense_Mutation_p.T393K|DDB1_ENST00000451943.2_Missense_Mutation_p.T69K	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1082	Interaction with CDT1 and CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCTGGTTCTGTCTTCCGCTC	0.517								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3244-3246)aCa>aAa	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							159.0	137.0	145.0					11																	61068375		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61068375G>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3245C>A	11.37:g.61068375G>T	ENSP00000301764:p.Thr1082Lys					DDB1_ENST00000451943.2_Missense_Mutation_p.T69K|DDB1_ENST00000450997.2_Missense_Mutation_p.T393K|DDB1_ENST00000538470.1_Missense_Mutation_p.T129K	p.T1082K	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			26	3642	-			1082			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.3245C>A	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663073	0.29515	.	.	ENSG00000167986	ENST00000301764;ENST00000451943;ENST00000450997;ENST00000538470	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.95	5.95	0.96441	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75273	0.3827	L	0.55103	1.725	0.80722	D	1	B	0.18013	0.025	B	0.16722	0.016	T	0.68390	-0.5421	10	0.18710	T	0.47	-7.2814	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1082	Q16531	DDB1_HUMAN	K	1082;69;393;129	ENSP00000301764:T1082K;ENSP00000399813:T69K;ENSP00000388705:T393K;ENSP00000441522:T129K	ENSP00000301764:T1082K	T	-	2	0	DDB1	60824951	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.334000	0.96470	2.824000	0.97209	0.655000	0.94253	ACA		0.517	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		34	18	1	0	4.11147e-13	1	4.54754e-13	34	18				
TTN	7273	broad.mit.edu	37	2	179597209	179597209	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr2:179597209C>T	ENST00000591111.1	-	54	15852	c.15628G>A	c.(15628-15630)Gtc>Atc	p.V5210I	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V5527I|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V4283I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12577	Ig-like 32.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCCAGCGACATTGCTGACT	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(16579-16581)Gtc>Atc		titin							56.0	55.0	55.0					2																	179597209		1909	4127	6036	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597209C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15628G>A	2.37:g.179597209C>T	ENSP00000465570:p.Val5210Ile					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V5210I|TTN_ENST00000342992.6_Missense_Mutation_p.V4283I	p.V5527I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		56	16803	-			5210			Ig-like 36.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16579G>A		.	.	.	.	.	.	.	.	.	.	C	9.793	1.178539	0.21787	.	.	ENSG00000155657	ENST00000342992	T	0.66638	-0.22	6.17	4.39	0.52855	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.46833	0.1413	N	0.11673	0.155	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.40646	-0.9552	9	0.87932	D	0	.	10.1245	0.42641	0.0:0.7994:0.0:0.2005	.	5210	Q8WZ42	TITIN_HUMAN	I	4283	ENSP00000343764:V4283I	ENSP00000343764:V4283I	V	-	1	0	TTN	179305454	0.291000	0.24352	0.040000	0.18447	0.980000	0.70556	1.754000	0.38369	0.949000	0.37715	0.655000	0.94253	GTC		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	20	0	0	0	1	0	15	20				
OR10Z1	128368	broad.mit.edu	37	1	158576500	158576500	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:158576500C>A	ENST00000361284.1	+	1	272	c.272C>A	c.(271-273)gCt>gAt	p.A91D		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GGGGACCAGGCTATCTCCTAT	0.537																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(271-273)gCt>gAt		olfactory receptor, family 10, subfamily Z, member 1							182.0	189.0	187.0					1																	158576500		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576500C>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.272C>A	1.37:g.158576500C>A	ENSP00000354707:p.Ala91Asp						p.A91D	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	272	+	all_hematologic(112;0.0378)		91					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.272C>A	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	C	4.788	0.146559	0.09134	.	.	ENSG00000198967	ENST00000361284	T	0.00563	6.58	5.36	-0.106	0.13596	GPCR, rhodopsin-like superfamily (1);	0.582670	0.14314	N	0.327482	T	0.00178	0.0005	L	0.50847	1.595	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40021	-0.9585	10	0.48119	T	0.1	.	4.337	0.11090	0.3418:0.2536:0.3349:0.0697	.	91	Q8NGY1	O10Z1_HUMAN	D	91	ENSP00000354707:A91D	ENSP00000354707:A91D	A	+	2	0	OR10Z1	156843124	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-2.394000	0.01054	-0.160000	0.11002	0.655000	0.94253	GCT		0.537	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		41	110	1	0	2.47872e-24	1	2.87217e-24	41	110				
DDX50	79009	broad.mit.edu	37	10	70673848	70673848	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr10:70673848C>T	ENST00000373585.3	+	7	1084	c.977C>T	c.(976-978)tCt>tTt	p.S326F	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	326	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TTACTTTTTTCTGCAACTTGC	0.348																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(976-978)tCt>tTt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							46.0	45.0	45.0					10																	70673848		2203	4299	6502	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70673848C>T	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.977C>T	10.37:g.70673848C>T	ENSP00000362687:p.Ser326Phe						p.S326F	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			7	1084	+			326			Helicase ATP-binding.		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.977C>T	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291095	0.80914	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.12774	2.65	5.49	5.49	0.81192	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79690	-0.1698	10	0.87932	D	0	-9.8392	19.7394	0.96219	0.0:1.0:0.0:0.0	.	326;326	Q9BQ39;B4DED6	DDX50_HUMAN;.	F	326	ENSP00000362687:S326F	ENSP00000362687:S326F	S	+	2	0	DDX50	70343854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.745000	0.94114	0.462000	0.41574	TCT		0.348	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		6	26	0	0	0	1	0	6	26				
AZIN2	113451	broad.mit.edu	37	1	33583687	33583687	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:33583687A>C	ENST00000294517.6	+	11	1801	c.1214A>C	c.(1213-1215)cAc>cCc	p.H405P	ADC_ENST00000398167.1_Missense_Mutation_p.H425P|ADC_ENST00000373441.1_Missense_Mutation_p.H425P|ADC_ENST00000373443.3_Missense_Mutation_p.H405P|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		405					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CAGGCCTGCCACATCACCTAT	0.592																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1213-1215)cAc>cCc		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						37.0	44.0	42.0					1																	33583687		2203	4298	6501	SO:0001583	missense	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583687A>C																												ENST00000294517.6:c.1214A>C	1.37:g.33583687A>C	ENSP00000294517:p.His405Pro					ADC_ENST00000373443.3_Missense_Mutation_p.H405P|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.H425P|ADC_ENST00000398167.1_Missense_Mutation_p.H425P	p.H405P	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			11	1801	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	405					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	c.1214A>C	CCDS375.1	.	.	.	.	.	.	.	.	.	.	A	0.601	-0.829020	0.02734	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	4.92	-0.309	0.12769	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.969700	0.08417	N	0.948933	T	0.18759	0.0450	N	0.04387	-0.21	0.20307	N	0.999919	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.23226	-1.0194	10	0.27082	T	0.32	-0.3703	6.1425	0.20266	0.3949:0.1253:0.4798:0.0	.	425;310;405	Q96A70-2;D3DPR0;Q96A70	.;.;ADC_HUMAN	P	405;405;425;425	ENSP00000294517:H405P;ENSP00000362542:H405P;ENSP00000381233:H425P;ENSP00000362540:H425P	ENSP00000294517:H405P	H	+	2	0	ADC	33356274	0.000000	0.05858	0.073000	0.20177	0.058000	0.15608	-0.237000	0.08990	-0.008000	0.14320	-0.237000	0.12165	CAC		0.592	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			25	17	0	0	0	1	0	25	17				
EDA	1896	broad.mit.edu	37	X	69253376	69253376	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chrX:69253376G>A	ENST00000374552.4	+	7	1164	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	EDA_ENST00000524573.1_Intron|EDA_ENST00000374553.2_Intron	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	308					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						TAGTCAGGTAGAAGTGAGTAC	0.532											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374552.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(922-924)Gaa>Aaa		ectodysplasin A							94.0	67.0	76.0					X																	69253376		2203	4300	6503	SO:0001583	missense	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:69253376G>A	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.922G>A	X.37:g.69253376G>A	ENSP00000363680:p.Glu308Lys		OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	EDA_ENST00000524573.1_Intron|EDA_ENST00000374553.2_Intron	p.E308K	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN			7	1164	+			308					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	c.922G>A	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449897	0.96205	.	.	ENSG00000158813	ENST00000374552	D	0.94417	-3.42	5.48	5.48	0.80851	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	D	0.95996	0.8696	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95472	0.8552	9	.	.	.	-12.0889	17.2271	0.86973	0.0:0.0:1.0:0.0	.	308	Q92838	EDA_HUMAN	K	308	ENSP00000363680:E308K	.	E	+	1	0	EDA	69170101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.279000	0.76181	0.600000	0.82982	GAA		0.532	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		4	35	0	0	0	1	0	4	35				
BSN	8927	broad.mit.edu	37	3	49688434	49688434	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr3:49688434G>T	ENST00000296452.4	+	4	2022	c.1908G>T	c.(1906-1908)aaG>aaT	p.K636N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	636					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTAAAGTAAAGAGTGGGGTGA	0.602																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(1906-1908)aaG>aaT		bassoon presynaptic cytomatrix protein							67.0	77.0	74.0					3																	49688434		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49688434G>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.1908G>T	3.37:g.49688434G>T	ENSP00000296452:p.Lys636Asn						p.K636N	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	2022	+			636					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.1908G>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756061	0.31137	.	.	ENSG00000164061	ENST00000296452	T	0.20881	2.04	5.02	0.0449	0.14227	.	0.267219	0.38272	N	0.001744	T	0.18257	0.0438	L	0.60455	1.87	0.09310	N	0.999997	B	0.29188	0.236	B	0.28553	0.091	T	0.14200	-1.0481	10	0.38643	T	0.18	.	8.8482	0.35184	0.4998:0.0:0.5002:0.0	.	636	Q9UPA5	BSN_HUMAN	N	636	ENSP00000296452:K636N	ENSP00000296452:K636N	K	+	3	2	BSN	49663438	0.999000	0.42202	0.029000	0.17559	0.814000	0.46013	1.083000	0.30815	-0.210000	0.10140	0.655000	0.94253	AAG		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		6	46	1	0	0.217242	1	0.220259	6	46				
SNX19	399979	broad.mit.edu	37	11	130781573	130781573	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:130781573G>A	ENST00000265909.4	-	2	2337	c.1768C>T	c.(1768-1770)Cag>Tag	p.Q590*	SNX19_ENST00000530356.1_5'UTR|SNX19_ENST00000539184.1_Nonsense_Mutation_p.Q33*|SNX19_ENST00000533214.1_Nonsense_Mutation_p.Q590*|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000528555.1_5'UTR|SNX19_ENST00000545537.1_5'Flank	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	590	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGACGGGTCTGCAGATTCAAG	0.552																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(1768-1770)Cag>Tag		sorting nexin 19							118.0	112.0	114.0					11																	130781573		2201	4297	6498	SO:0001587	stop_gained	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130781573G>A	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1768C>T	11.37:g.130781573G>A	ENSP00000265909:p.Gln590*					SNX19_ENST00000530356.1_5'UTR|SNX19_ENST00000528555.1_5'UTR|SNX19_ENST00000533214.1_Nonsense_Mutation_p.Q590*|SNX19_ENST00000539184.1_Nonsense_Mutation_p.Q33*|SNX19_ENST00000533318.1_5'UTR	p.Q590*	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	2	2337	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	590			PX.		E9PKB9|Q8IV55	Nonsense_Mutation	SNP	ENST00000265909.4	37	c.1768C>T	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	44	10.959921	0.99494	.	.	ENSG00000120451	ENST00000265909;ENST00000539184;ENST00000533214	.	.	.	5.53	5.53	0.82687	.	0.053220	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-18.1669	19.466	0.94939	0.0:0.0:1.0:0.0	.	.	.	.	X	590;33;590	.	ENSP00000265909:Q590X	Q	-	1	0	SNX19	130286783	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.325000	0.96381	2.607000	0.88179	0.655000	0.94253	CAG		0.552	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		29	30	0	0	0	1	0	29	30				
AJAP1	55966	broad.mit.edu	37	1	4832550	4832550	+	Silent	SNP	G	G	A	rs559785406		TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:4832550G>A	ENST00000378191.4	+	4	1509	c.1128G>A	c.(1126-1128)acG>acA	p.T376T	AJAP1_ENST00000378190.3_Silent_p.T376T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	376	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TGCACTCGACGACGGGGGAGT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		17784	0.0		0.001	False		,,,				2504	0.0					ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(1126-1128)acG>acA		adherens junctions associated protein 1							52.0	50.0	51.0					1																	4832550		2203	4300	6503	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832550G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1128G>A	1.37:g.4832550G>A						AJAP1_ENST00000378190.3_Silent_p.T376T	p.T376T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1509	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	376			Targeting signals.		Q9Y229	Silent	SNP	ENST00000378191.4	37	c.1128G>A	CCDS54.1																																																																																				0.587	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		4	24	0	0	0	1	0	4	24				
TFPT	29844	broad.mit.edu	37	19	54610362	54610362	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr19:54610362C>T	ENST00000391759.1	-	6	1162	c.757G>A	c.(757-759)Gac>Aac	p.D253N	NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391757.1_3'UTR|TFPT_ENST00000391758.1_Missense_Mutation_p.D244N|NDUFA3_ENST00000485876.1_3'UTR	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	253					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					ATGCGTCAGTCAGAGGCTGGG	0.577			T	TCF3	pre-B ALL																																	ENST00000391759.1				Dom	yes		19	19q13	29844	T	TCF3 (E2A) fusion partner (in childhood Leukemia)			L	TCF3		pre-B ALL		0				large_intestine(2)|lung(2)	4						c.(757-759)Gac>Aac		TCF3 (E2A) fusion partner (in childhood Leukemia)							94.0	100.0	98.0					19																	54610362		2203	4300	6503	SO:0001583	missense	29844				apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	g.chr19:54610362C>T	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.757G>A	19.37:g.54610362C>T	ENSP00000375639:p.Asp253Asn					NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391758.1_Missense_Mutation_p.D244N|NDUFA3_ENST00000485876.1_3'UTR|TFPT_ENST00000391757.1_3'UTR	p.D253N	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN			6	1162	-	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		253						Missense_Mutation	SNP	ENST00000391759.1	37	c.757G>A	CCDS12878.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644883	0.67358	.	.	ENSG00000105619	ENST00000391759;ENST00000391758	.	.	.	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000003	T	0.35158	0.0922	N	0.08118	0	0.80722	D	1	P	0.37864	0.61	B	0.36504	0.226	T	0.46871	-0.9160	9	0.87932	D	0	-15.1931	15.7095	0.77615	0.0:1.0:0.0:0.0	.	253	P0C1Z6	TFPT_HUMAN	N	253;244	.	ENSP00000375638:D244N	D	-	1	0	TFPT	59302174	1.000000	0.71417	0.955000	0.39395	0.260000	0.26232	3.782000	0.55401	2.387000	0.81309	0.655000	0.94253	GAC		0.577	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		45	28	0	0	0	1	0	45	28				
CAMTA1	23261	broad.mit.edu	37	1	7724954	7724954	+	Missense_Mutation	SNP	G	G	A	rs370719100		TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:7724954G>A	ENST00000303635.7	+	9	2554	c.2347G>A	c.(2347-2349)Gtg>Atg	p.V783M	CAMTA1_ENST00000439411.2_Missense_Mutation_p.V783M	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	783					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTTCATCTCCGTGGAGGGGGG	0.637			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2347-2349)Gtg>Atg		calmodulin binding transcription activator 1		G	MET/VAL	0,4406		0,0,2203	154.0	177.0	169.0		2347	5.2	1.0	1		169	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAMTA1	NM_015215.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	783/1674	7724954	1,13005	2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724954G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2347G>A	1.37:g.7724954G>A	ENSP00000306522:p.Val783Met					CAMTA1_ENST00000439411.2_Missense_Mutation_p.V783M	p.V783M	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2554	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	783					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2347G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	16.86	3.240189	0.58995	0.0	1.16E-4	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.29917	1.56;1.55	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.51466	0.1676	L	0.53249	1.67	0.53005	D	0.99996	D	0.89917	1.0	D	0.80764	0.994	T	0.37934	-0.9684	10	0.30078	T	0.28	-16.798	18.7931	0.91982	0.0:0.0:1.0:0.0	.	783	Q9Y6Y1	CMTA1_HUMAN	M	783	ENSP00000306522:V783M;ENSP00000402561:V783M	ENSP00000306522:V783M	V	+	1	0	CAMTA1	7647541	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.073000	0.93992	2.453000	0.82957	0.549000	0.68633	GTG		0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		17	263	0	0	0	1	0	17	263				
F5	2153	broad.mit.edu	37	1	169510354	169510354	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:169510354A>G	ENST00000367797.3	-	13	4175	c.3974T>C	c.(3973-3975)cTc>cCc	p.L1325P	F5_ENST00000367796.3_Missense_Mutation_p.L1330P	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1325	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGTATGGCTGAGGTCTGGAGA	0.512																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3988-3990)cTc>cCc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						224.0	247.0	239.0					1																	169510354		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510354A>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3974T>C	1.37:g.169510354A>G	ENSP00000356771:p.Leu1325Pro					F5_ENST00000367797.3_Missense_Mutation_p.L1325P	p.L1330P			P12259	FA5_HUMAN			13	4190	-	all_hematologic(923;0.208)		1325			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3989T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	A	9.293	1.051170	0.19827	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.36340	1.26;1.26	4.62	-2.39	0.06602	.	1.096560	0.06943	N	0.813195	T	0.05777	0.0151	N	0.16478	0.41	0.22811	N	0.998704	B	0.28971	0.229	B	0.24701	0.055	T	0.30534	-0.9975	9	0.27785	T	0.31	.	3.3353	0.07098	0.3465:0.0:0.2622:0.3913	.	1325	P12259	FA5_HUMAN	P	1325;1330	ENSP00000356771:L1325P;ENSP00000356770:L1330P	ENSP00000356770:L1330P	L	-	2	0	F5	167776978	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.150000	0.10189	-0.657000	0.05373	-1.212000	0.01626	CTC		0.512	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		5	248	0	0	0	1	0	5	248				
LPO	4025	broad.mit.edu	37	17	56329723	56329723	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr17:56329723C>A	ENST00000262290.4	+	8	1277	c.961C>A	c.(961-963)Cgc>Agc	p.R321S	LPO_ENST00000421678.2_Missense_Mutation_p.R238S|LPO_ENST00000582328.1_Missense_Mutation_p.R238S|LPO_ENST00000543544.1_Missense_Mutation_p.R262S	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	321					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.R321C(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CAGCCGCCTCCGCAACCTCAG	0.617																																						ENST00000262290.4																			1	Substitution - Missense(1)	p.R321C(1)	breast(1)	breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(961-963)Cgc>Agc		lactoperoxidase							50.0	46.0	47.0					17																	56329723		2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56329723C>A	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.961C>A	17.37:g.56329723C>A	ENSP00000262290:p.Arg321Ser					LPO_ENST00000582328.1_Missense_Mutation_p.R238S|LPO_ENST00000421678.2_Missense_Mutation_p.R238S|LPO_ENST00000543544.1_Missense_Mutation_p.R262S	p.R321S	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			8	1277	+			321					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.961C>A	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965054	0.74131	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	D;D;D	0.88431	-2.38;-2.38;-2.38	5.3	3.15	0.36227	.	0.000000	0.85682	D	0.000000	D	0.96303	0.8794	H	0.98048	4.135	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.83275	0.985;0.996	D	0.97056	0.9767	10	0.87932	D	0	-10.7177	12.8929	0.58082	0.3817:0.6183:0.0:0.0	.	238;321	E7EMJ3;P22079	.;PERL_HUMAN	S	321;238;262;66	ENSP00000262290:R321S;ENSP00000400245:R238S;ENSP00000445344:R262S	ENSP00000262290:R321S	R	+	1	0	LPO	53684722	0.280000	0.24249	0.972000	0.41901	0.983000	0.72400	0.972000	0.29409	1.208000	0.43306	0.655000	0.94253	CGC		0.617	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			5	23	1	0	1	1	1	5	23				
IGKV1D-43	28891	broad.mit.edu	37	2	90249360	90249360	+	RNA	SNP	G	G	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr2:90249360G>A	ENST00000468879.1	+	0	497									immunoglobulin kappa variable 1D-43																		TGAAGATTTTGCAACTTATTA	0.512																																						ENST00000468879.1																			0																				170.0	155.0	160.0					2																	90249360		1892	4109	6001			0							g.chr2:90249360G>A	X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90249360G>A														0	497	+									RNA	SNP	ENST00000468879.1	37																																																																																						0.512	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323147.2	NG_000833		4	128	0	0	0	1	0	4	128				
MGAM	8972	broad.mit.edu	37	7	141719106	141719106	+	Silent	SNP	C	C	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr7:141719106C>T	ENST00000549489.2	+	4	530	c.435C>T	c.(433-435)gtC>gtT	p.V145V	MGAM_ENST00000475668.2_Silent_p.V145V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	145					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCAACCTTGTCAACACAAATG	0.542																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(433-435)gtC>gtT		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						65.0	68.0	67.0					7																	141719106		2069	4217	6286	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141719106C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.435C>T	7.37:g.141719106C>T						MGAM_ENST00000549489.2_Silent_p.V145V	p.V145V			O43451	MGA_HUMAN			4	489	+	Melanoma(164;0.0272)		145					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.435C>T	CCDS47727.1																																																																																				0.542	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			8	26	0	0	0	1	0	8	26				
RPS4Y2	140032	broad.mit.edu	37	Y	22930773	22930773	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chrY:22930773G>A	ENST00000288666.5	+	5	443	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	148					translation (GO:0006412)	ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			lung(2)	2						CGAACCATTCGCTACCCAGAT	0.423																																						ENST00000288666.5																			0				lung(2)	2						c.(442-444)cGc>cAc		ribosomal protein S4, Y-linked 2							145.0	138.0	140.0					Y																	22930773		629	1971	2600	SO:0001583	missense	140032				translation	ribosome	rRNA binding|structural constituent of ribosome	g.chrY:22930773G>A	AF497481	CCDS44028.1	Yq11.223	2006-02-22	2006-02-22	2006-02-22	ENSG00000157828	ENSG00000157828		"""S ribosomal proteins"""	18501	protein-coding gene	gene with protein product		400030	"""ribosomal protein S4, Y-linked 2 pseudogene"""	RPS4Y2P		12815422	Standard	NM_001039567		Approved		uc011nbb.2	Q8TD47	OTTHUMG00000036540	ENST00000288666.5:c.443G>A	Y.37:g.22930773G>A	ENSP00000288666:p.Arg148His						p.R148H	NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN			5	443	+			148					A6NIR6	Missense_Mutation	SNP	ENST00000288666.5	37	c.443G>A	CCDS44028.1	.	.	.	.	.	.	.	.	.	.	.	7.770	0.707266	0.15239	.	.	ENSG00000157828	ENST00000288666	D	0.88124	-2.34	1.47	0.544	0.17185	Ribosomal protein S4e, central (2);	0.000000	0.64402	U	0.000002	D	0.83358	0.5237	M	0.91406	3.205	.	.	.	P	0.45240	0.854	B	0.42593	0.392	T	0.80425	-0.1388	7	.	.	.	.	.	.	.	.	148	Q8TD47	RS4Y2_HUMAN	H	148	ENSP00000288666:R148H	.	R	+	2	0	RPS4Y2	21340161	1.000000	0.71417	0.179000	0.23059	0.122000	0.20287	4.818000	0.62657	0.171000	0.19730	0.163000	0.16589	CGC		0.423	RPS4Y2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088873.1			54	7	0	0	0	1	0	54	7				
CFAP46	54777	broad.mit.edu	37	10	134664756	134664756	+	Silent	SNP	G	G	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr10:134664756G>A	ENST00000368586.5	-	40	5728	c.5628C>T	c.(5626-5628)ggC>ggT	p.G1876G	TTC40_ENST00000263170.5_Silent_p.G37G	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TTTCCACGAGGCCGAGCTTGA	0.612																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(5626-5628)ggC>ggT		tetratricopeptide repeat domain 40							67.0	60.0	62.0					10																	134664756		2202	4300	6502	SO:0001819	synonymous_variant	54777							g.chr10:134664756G>A																												ENST00000368586.5:c.5628C>T	10.37:g.134664756G>A						TTC40_ENST00000263170.5_Silent_p.G37G	p.G1876G	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			40	5728	-			37						Silent	SNP	ENST00000368586.5	37	c.5628C>T	CCDS58101.1																																																																																				0.612	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			8	29	0	0	0	1	0	8	29				
KRT18P55	284085	broad.mit.edu	37	17	26604099	26604099	+	RNA	SNP	C	C	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr17:26604099C>T	ENST00000577198.1	-	0	862				AC061975.8_ENST00000385109.1_RNA	NR_028334.1				keratin 18 pseudogene 55																		GCCAGGTGGTCGTTGAGGCTT	0.607																																						ENST00000577198.1																			0																				62.0	67.0	65.0					17																	26604099		2166	4279	6445			0							g.chr17:26604099C>T			17q11.2	2013-06-25			ENSG00000265480	ENSG00000265480			26874	pseudogene	pseudogene							Standard	NR_028334		Approved		uc002has.3		OTTHUMG00000179422		17.37:g.26604099C>T								NR_028334.1						0	862	-									RNA	SNP	ENST00000577198.1	37																																																																																						0.607	KRT18P55-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446194.1	NR_028334		8	60	0	0	0	1	0	8	60				
HSD17B2	3294	broad.mit.edu	37	16	82132014	82132014	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr16:82132014G>T	ENST00000199936.4	+	5	1330	c.1137G>T	c.(1135-1137)atG>atT	p.M379I	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	379					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						CTCTAAGAATGCCTAACTACA	0.433																																						ENST00000199936.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(1135-1137)atG>atT		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)						108.0	108.0	108.0					16																	82132014		2201	4300	6501	SO:0001583	missense	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82132014G>T		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.1137G>T	16.37:g.82132014G>T	ENSP00000199936:p.Met379Ile					RP11-510J16.5_ENST00000567021.1_RNA	p.M379I	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN			5	1330	+			379					B2R7T4	Missense_Mutation	SNP	ENST00000199936.4	37	c.1137G>T	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	g	4.671	0.124744	0.08931	.	.	ENSG00000086696	ENST00000199936	D	0.83335	-1.71	5.57	-3.61	0.04556	.	2.493710	0.01262	N	0.009214	T	0.67988	0.2952	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.51092	-0.8749	10	0.46703	T	0.11	.	0.1412	0.00084	0.2757:0.2571:0.2061:0.261	.	379	P37059	DHB2_HUMAN	I	379	ENSP00000199936:M379I	ENSP00000199936:M379I	M	+	3	0	HSD17B2	80689515	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.042000	0.12063	-0.365000	0.08076	-0.181000	0.13052	ATG		0.433	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		15	80	1	0	5.03518e-11	1	5.40542e-11	15	80				
CCBL1	883	broad.mit.edu	37	9	131597626	131597626	+	Silent	SNP	G	G	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr9:131597626G>A	ENST00000302586.3	-	11	1260	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000436267.2_Silent_p.F460F|CCBL1_ENST00000320665.6_Silent_p.F316F	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	366					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	TCCACTTGACGAAGCGTCTGT	0.597																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(1378-1380)ttC>ttT		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						120.0	125.0	123.0					9																	131597626		2076	4222	6298	SO:0001819	synonymous_variant	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131597626G>A	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.1098C>T	9.37:g.131597626G>A						CCBL1_ENST00000302586.3_Silent_p.F366F|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Silent_p.F316F	p.F460F			Q16773	KAT1_HUMAN			13	1529	-			366					Q5T275|Q8N191	Silent	SNP	ENST00000302586.3	37	c.1380C>T	CCDS43884.1																																																																																				0.597	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			24	175	0	0	0	1	0	24	175				
LRRC37A11P	342666	broad.mit.edu	37	17	37188096	37188096	+	RNA	SNP	T	T	C			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr17:37188096T>C	ENST00000425901.2	+	0	1938					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		GGGCTTACCATCACTCCAGAA	0.517																																						ENST00000425901.2																			0																																																			0							g.chr17:37188096T>C			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37188096T>C								NR_033753.2						0	1938	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.517	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		5	90	0	0	0	1	0	5	90				
KMT2D	8085	broad.mit.edu	37	12	49427951	49427951	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr12:49427951G>A	ENST00000301067.7	-	38	10638	c.10639C>T	c.(10639-10641)Cgc>Tgc	p.R3547C	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3547	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTGGCAGTGCGCTGCTTGGCA	0.542																																						ENST00000301067.7																			0											c.(10639-10641)Cgc>Tgc		lysine (K)-specific methyltransferase 2D							84.0	83.0	83.0					12																	49427951		2031	4202	6233	SO:0001583	missense	8085							g.chr12:49427951G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10639C>T	12.37:g.49427951G>A	ENSP00000301067:p.Arg3547Cys						p.R3547C	NM_003482.3	NP_003473.3					38	10638	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.10639C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231481	0.39399	.	.	ENSG00000167548	ENST00000301067	T	0.44881	0.91	5.38	5.38	0.77491	.	0.000000	0.36893	N	0.002344	T	0.62048	0.2396	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63355	-0.6656	10	0.87932	D	0	.	18.2915	0.90131	0.0:0.0:1.0:0.0	.	3547	O14686	MLL2_HUMAN	C	3547	ENSP00000301067:R3547C	ENSP00000301067:R3547C	R	-	1	0	MLL2	47714218	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.711000	0.92665	0.563000	0.77884	CGC		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	64	0	0	0	1	0	6	64				
PLBD2	196463	broad.mit.edu	37	12	113825600	113825600	+	Silent	SNP	C	C	G			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr12:113825600C>G	ENST00000280800.3	+	11	1522	c.1491C>G	c.(1489-1491)ccC>ccG	p.P497P	PLBD2_ENST00000545182.2_Silent_p.P465P	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	497					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCTGCAACCCCCAGCCCAATG	0.602																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1489-1491)ccC>ccG		phospholipase B domain containing 2							272.0	264.0	267.0					12																	113825600		2203	4300	6503	SO:0001819	synonymous_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113825600C>G	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1491C>G	12.37:g.113825600C>G						PLBD2_ENST00000545182.2_Silent_p.P465P	p.P497P	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			11	1522	+			497					F5H5E2	Silent	SNP	ENST00000280800.3	37	c.1491C>G	CCDS9168.1																																																																																				0.602	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		287	172	0	0	0	1	0	287	172				
CUL5	8065	broad.mit.edu	37	11	107969215	107969215	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:107969215G>C	ENST00000393094.2	+	18	2723	c.2107G>C	c.(2107-2109)Gag>Cag	p.E703Q		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	703					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GAGAGAAGAAGAGAATGAAGG	0.318																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(2107-2109)Gag>Cag		cullin 5							83.0	82.0	82.0					11																	107969215		2201	4297	6498	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107969215G>C	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.2107G>C	11.37:g.107969215G>C	ENSP00000376808:p.Glu703Gln						p.E703Q	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	18	2723	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	703					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.2107G>C	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	G	34	5.327500	0.95733	.	.	ENSG00000166266	ENST00000393094	T	0.70282	-0.47	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79707	0.4492	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	P	0.58130	0.833	T	0.76296	-0.3011	10	0.34782	T	0.22	-14.0357	20.0442	0.97604	0.0:0.0:1.0:0.0	.	703	Q93034	CUL5_HUMAN	Q	703	ENSP00000376808:E703Q	ENSP00000376808:E703Q	E	+	1	0	CUL5	107474425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.378000	0.97191	2.814000	0.96858	0.655000	0.94253	GAG		0.318	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			7	58	0	0	0	1	0	7	58				
STOX2	56977	broad.mit.edu	37	4	184930876	184930876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr4:184930876G>A	ENST00000308497.4	+	3	2320	c.885G>A	c.(883-885)tgG>tgA	p.W295*	STOX2_ENST00000438269.1_Nonsense_Mutation_p.W295*	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	295					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTGAAGAGTGGCCCCTGCGAG	0.473																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(883-885)tgG>tgA		storkhead box 2							24.0	24.0	24.0					4																	184930876		1916	4134	6050	SO:0001587	stop_gained	56977				embryo development|maternal placenta development			g.chr4:184930876G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.885G>A	4.37:g.184930876G>A	ENSP00000311257:p.Trp295*					STOX2_ENST00000438269.1_Nonsense_Mutation_p.W295*	p.W295*	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2320	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	295					A6H8U4|Q9NPS8	Nonsense_Mutation	SNP	ENST00000308497.4	37	c.885G>A	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	G	49	15.315958	0.99829	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6784	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	X	295	.	ENSP00000311257:W295X	W	+	3	0	STOX2	185167870	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	TGG		0.473	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		4	6	0	0	0	1	0	4	6				
METTL13	51603	broad.mit.edu	37	1	171761359	171761359	+	Silent	SNP	G	G	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:171761359G>A	ENST00000361735.3	+	6	1943	c.1677G>A	c.(1675-1677)ttG>ttA	p.L559L	METTL13_ENST00000362019.3_Silent_p.L473L|METTL13_ENST00000367737.5_Silent_p.L403L|METTL13_ENST00000458517.1_Silent_p.L558L|METTL13_ENST00000466643.1_3'UTR	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	559							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TCGCCAGCTTGGCAGGAGGAG	0.537																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1675-1677)ttG>ttA		methyltransferase like 13							114.0	101.0	105.0					1																	171761359		2203	4300	6503	SO:0001819	synonymous_variant	51603						methyltransferase activity|protein binding	g.chr1:171761359G>A	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1677G>A	1.37:g.171761359G>A						METTL13_ENST00000362019.3_Silent_p.L473L|METTL13_ENST00000367737.5_Silent_p.L403L|METTL13_ENST00000458517.1_Silent_p.L558L|METTL13_ENST00000466643.1_3'UTR	p.L559L	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			6	1943	+			559					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	c.1677G>A	CCDS1299.1																																																																																				0.537	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		30	53	0	0	0	1	0	30	53				
DYNC1I1	1780	broad.mit.edu	37	7	95616435	95616435	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr7:95616435C>G	ENST00000324972.6	+	9	1055	c.862C>G	c.(862-864)Cga>Gga	p.R288G	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.R268G|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.R271G|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.R251G|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.R251G|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.R271G	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	288					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GTCCAAGCATCGAGTGGTCAC	0.428																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(862-864)Cga>Gga		dynein, cytoplasmic 1, intermediate chain 1							254.0	246.0	249.0					7																	95616435		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95616435C>G	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.862C>G	7.37:g.95616435C>G	ENSP00000320130:p.Arg288Gly					DYNC1I1_ENST00000447467.2_Missense_Mutation_p.R271G|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.R251G|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.R268G|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.R271G|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.R251G	p.R288G	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		9	1055	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		288					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.862C>G	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777452	0.70107	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48;3.48	3.86	2.98	0.34508	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.068810	0.64402	D	0.000014	T	0.31918	0.0812	M	0.93375	3.41	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.979;1.0	D;D;D;P;D	0.85130	0.994;0.997;0.997;0.9;0.996	T	0.44283	-0.9338	10	0.87932	D	0	-7.5464	12.3518	0.55153	0.0:0.916:0.0:0.084	.	271;268;271;288;251	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	G	271;288;251;268;251;271	ENSP00000392337:R271G;ENSP00000320130:R288G;ENSP00000438377:R251G;ENSP00000398118:R268G;ENSP00000352348:R251G;ENSP00000412444:R271G	ENSP00000320130:R288G	R	+	1	2	DYNC1I1	95454371	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	3.793000	0.55484	1.210000	0.43336	0.563000	0.77884	CGA		0.428	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		8	231	0	0	0	1	0	8	231				
SYT9	143425	broad.mit.edu	37	11	7334874	7334874	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:7334874C>T	ENST00000318881.6	+	3	983	c.746C>T	c.(745-747)gCc>gTc	p.A249V	SYT9_ENST00000396716.2_Missense_Mutation_p.A217V	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AATTTGCCCGCCAAGGACTTT	0.408																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(745-747)gCc>gTc		synaptotagmin IX							113.0	114.0	113.0					11																	7334874		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334874C>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.746C>T	11.37:g.7334874C>T	ENSP00000324419:p.Ala249Val					SYT9_ENST00000396716.2_Missense_Mutation_p.A217V	p.A249V	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	983	+			249			C2 1.			Missense_Mutation	SNP	ENST00000318881.6	37	c.746C>T	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360950	0.82353	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.70516	-0.49;-0.49	5.87	4.97	0.65823	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.64402	D	0.000001	T	0.65554	0.2702	L	0.47016	1.485	0.58432	D	0.999999	P	0.38597	0.639	B	0.37601	0.254	T	0.69139	-0.5224	10	0.59425	D	0.04	.	14.708	0.69206	0.1461:0.8539:0.0:0.0	.	249	Q86SS6	SYT9_HUMAN	V	217;249	ENSP00000379944:A217V;ENSP00000324419:A249V	ENSP00000324419:A249V	A	+	2	0	SYT9	7291450	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.053000	0.71089	1.639000	0.50556	-0.127000	0.14921	GCC		0.408	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		18	91	0	0	0	1	0	18	91				
SPHKAP	80309	broad.mit.edu	37	2	228881480	228881480	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr2:228881480C>G	ENST00000392056.3	-	7	4136	c.4090G>C	c.(4090-4092)Gtt>Ctt	p.V1364L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V1364L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1364						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACTCCTGAACAAGCAGAGTT	0.507																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4090-4092)Gtt>Ctt		SPHK1 interactor, AKAP domain containing							80.0	76.0	78.0					2																	228881480		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881480C>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4090G>C	2.37:g.228881480C>G	ENSP00000375909:p.Val1364Leu					SPHKAP_ENST00000344657.5_Missense_Mutation_p.V1364L	p.V1364L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4136	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1364					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4090G>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	9.366	1.069316	0.20147	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12569	2.67;2.67	5.4	3.59	0.41128	.	0.249250	0.39146	N	0.001445	T	0.16896	0.0406	M	0.69823	2.125	0.09310	N	1	B;B;B	0.21452	0.018;0.012;0.056	B;B;B	0.23275	0.014;0.006;0.045	T	0.15407	-1.0438	10	0.56958	D	0.05	.	9.4263	0.38581	0.1439:0.7823:0.0:0.0738	.	395;1364;1364	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	L	1364	ENSP00000375909:V1364L;ENSP00000339886:V1364L	ENSP00000339886:V1364L	V	-	1	0	SPHKAP	228589724	0.000000	0.05858	0.005000	0.12908	0.013000	0.08279	0.540000	0.23191	0.829000	0.34733	0.655000	0.94253	GTT		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		44	26	0	0	0	1	0	44	26				
MELK	9833	broad.mit.edu	37	9	36643018	36643018	+	Missense_Mutation	SNP	G	G	A	rs374744271		TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr9:36643018G>A	ENST00000298048.2	+	11	1043	c.859G>A	c.(859-861)Gta>Ata	p.V287I	MELK_ENST00000538311.1_Missense_Mutation_p.V93I|MELK_ENST00000536987.1_Missense_Mutation_p.V156I|MELK_ENST00000541717.1_Missense_Mutation_p.V287I|MELK_ENST00000545008.1_Missense_Mutation_p.V216I|MELK_ENST00000536860.1_Missense_Mutation_p.V239I|MELK_ENST00000536329.1_Missense_Mutation_p.V216I|MELK_ENST00000543751.1_Missense_Mutation_p.V255I	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	287	UBA-like.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TGATGATTGCGTAACAGAACT	0.338																																					Ovarian(82;980 1317 7225 14391 18624)	ENST00000543751.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29						c.(763-765)Gta>Ata		maternal embryonic leucine zipper kinase							90.0	84.0	86.0					9																	36643018		2203	4300	6503	SO:0001583	missense	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36643018G>A	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.859G>A	9.37:g.36643018G>A	ENSP00000298048:p.Val287Ile					MELK_ENST00000545008.1_Missense_Mutation_p.V216I|MELK_ENST00000538311.1_Missense_Mutation_p.V93I|MELK_ENST00000536329.1_Missense_Mutation_p.V216I|MELK_ENST00000298048.2_Missense_Mutation_p.V287I|MELK_ENST00000536860.1_Missense_Mutation_p.V239I|MELK_ENST00000536987.1_Missense_Mutation_p.V156I|MELK_ENST00000541717.1_Missense_Mutation_p.V287I	p.V255I	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		10	908	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	287			Protein kinase.		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	c.763G>A	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	G	8.088	0.773782	0.16051	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.24908	1.85;2.08;1.83;1.85;1.85;1.85;1.85;1.85	5.46	-3.5	0.04710	Protein kinase-like domain (1);	0.482604	0.24274	N	0.039965	T	0.11707	0.0285	L	0.27053	0.805	0.27893	N	0.939243	B;B;B;B;B;B;B	0.12013	0.0;0.004;0.0;0.001;0.005;0.002;0.0	B;B;B;B;B;B;B	0.13407	0.002;0.009;0.002;0.003;0.005;0.002;0.001	T	0.37686	-0.9695	10	0.09843	T	0.71	-0.1289	7.6197	0.28179	0.5406:0.0:0.3482:0.1112	.	207;216;239;287;216;255;287	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	I	287;93;156;216;239;216;287;255	ENSP00000298048:V287I;ENSP00000438226:V93I;ENSP00000439184:V156I;ENSP00000445452:V216I;ENSP00000439792:V239I;ENSP00000443550:V216I;ENSP00000437804:V287I;ENSP00000441596:V255I	ENSP00000298048:V287I	V	+	1	0	MELK	36633018	0.001000	0.12720	0.344000	0.25628	0.984000	0.73092	-0.551000	0.06027	-0.836000	0.04229	-0.133000	0.14855	GTA		0.338	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		16	52	0	0	0	1	0	16	52				
SLC2A12	154091	broad.mit.edu	37	6	134350120	134350120	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr6:134350120T>C	ENST00000275230.5	-	2	998	c.843A>G	c.(841-843)atA>atG	p.I281M		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	281					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GTGTTAGTCCTATCATTATTC	0.378																																					Melanoma(122;1663 1672 14489 35294 41228)	ENST00000275230.5																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(841-843)atA>atG		solute carrier family 2 (facilitated glucose transporter), member 12							86.0	82.0	83.0					6																	134350120		2203	4300	6503	SO:0001583	missense	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134350120T>C	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.843A>G	6.37:g.134350120T>C	ENSP00000275230:p.Ile281Met						p.I281M	NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	998	-	Breast(56;0.214)|Colorectal(23;0.221)		281					B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	c.843A>G	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.280621	0.40294	.	.	ENSG00000146411	ENST00000275230	T	0.74315	-0.83	5.4	2.85	0.33270	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.148770	0.64402	D	0.000009	T	0.65770	0.2723	M	0.64630	1.985	0.36635	D	0.876542	P	0.51537	0.946	P	0.50970	0.655	T	0.67906	-0.5549	10	0.72032	D	0.01	-22.3242	7.8502	0.29451	0.1287:0.0:0.2684:0.6029	.	281	Q8TD20	GTR12_HUMAN	M	281	ENSP00000275230:I281M	ENSP00000275230:I281M	I	-	3	3	SLC2A12	134391813	0.959000	0.32827	0.997000	0.53966	0.840000	0.47671	-0.007000	0.12810	0.301000	0.22738	0.383000	0.25322	ATA		0.378	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			21	42	0	0	0	1	0	21	42				
CDC42BPA	8476	broad.mit.edu	37	1	227203873	227203873	+	Silent	SNP	T	T	G			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:227203873T>G	ENST00000366769.3	-	33	5951	c.4660A>C	c.(4660-4662)Aga>Cga	p.R1554R	CDC42BPA_ENST00000366764.2_Silent_p.R1526R|CDC42BPA_ENST00000334218.5_Silent_p.R1554R|CDC42BPA_ENST00000366767.3_Silent_p.R1473R|CDC42BPA_ENST00000366766.2_Silent_p.R1589R|CDC42BPA_ENST00000535525.1_Silent_p.R1534R|CDC42BPA_ENST00000366765.3_Silent_p.R1567R	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AATTTATTTCTCATTTCTGGA	0.343																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(4660-4662)Aga>Cga		CDC42 binding protein kinase alpha (DMPK-like)							132.0	135.0	134.0					1																	227203873		2203	4300	6503	SO:0001819	synonymous_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227203873T>G	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4660A>C	1.37:g.227203873T>G						CDC42BPA_ENST00000366767.3_Silent_p.R1473R|CDC42BPA_ENST00000366765.3_Silent_p.R1567R|CDC42BPA_ENST00000535525.1_Silent_p.R1534R|CDC42BPA_ENST00000366766.2_Silent_p.R1589R|CDC42BPA_ENST00000366764.2_Silent_p.R1526R|CDC42BPA_ENST00000334218.5_Silent_p.R1554R	p.R1554R	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			33	5951	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1567						Silent	SNP	ENST00000366769.3	37	c.4660A>C	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.370911	0.24771	.	.	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	T	0.73345	0.3575	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72327	-0.4327	4	.	.	.	.	16.3593	0.83251	0.0:0.0:0.0:1.0	.	.	.	.	A	756;882;451	.	.	E	-	2	0	CDC42BPA	225270496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.903000	0.56318	2.267000	0.75376	0.383000	0.25322	GAG		0.343	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		6	87	0	0	0	1	0	6	87				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053219	85053219	+	RNA	SNP	C	C	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr15:85053219C>T	ENST00000414190.2	-	0	233					NR_003246.2																						TGCAGCCTCTCCTGCTCCTCC	0.522																																						ENST00000414190.2																			0																																																			0							g.chr15:85053219C>T																													15.37:g.85053219C>T								NR_003246.2						0	233	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.522	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			3	1	0	0	0	1	0	3	1				
E2F1	1869	broad.mit.edu	37	20	32265317	32265317	+	Missense_Mutation	SNP	C	C	T	rs3213172	byFrequency	TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr20:32265317C>T	ENST00000343380.5	-	5	894	c.755G>A	c.(754-756)cGt>cAt	p.R252H	RP1-63M2.5_ENST00000606866.1_RNA	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	252	Dimerization. {ECO:0000255}.|Required for interaction with TRIM28.		R -> H (in dbSNP:rs3213172). {ECO:0000269|Ref.5}.		anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						TGCAATGCTACGAAGGTCCTG	0.562																																						ENST00000343380.5																			0				NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(754-756)cGt>cAt		E2F transcription factor 1							100.0	88.0	92.0					20																	32265317		2203	4300	6503	SO:0001583	missense	1869				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr20:32265317C>T		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.755G>A	20.37:g.32265317C>T	ENSP00000345571:p.Arg252His						p.R252H	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN			5	894	-			252		R -> H (in dbSNP:rs3213172).	Dimerization (Potential).|Required for interaction with TRIM28.		Q13143|Q92768	Missense_Mutation	SNP	ENST00000343380.5	37	c.755G>A	CCDS13224.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362491	0.61403	.	.	ENSG00000101412	ENST00000343380	T	0.52983	0.64	5.02	4.08	0.47627	.	0.126644	0.52532	D	0.000080	T	0.59376	0.2189	L	0.50333	1.59	0.49798	D	0.999825	D	0.76494	0.999	D	0.65443	0.935	T	0.59600	-0.7424	10	0.45353	T	0.12	-3.5155	13.0967	0.59197	0.0:0.9221:0.0:0.0778	rs3213172	252	Q01094	E2F1_HUMAN	H	252	ENSP00000345571:R252H	ENSP00000345571:R252H	R	-	2	0	E2F1	31728978	1.000000	0.71417	0.975000	0.42487	0.951000	0.60555	4.701000	0.61810	1.349000	0.45751	0.462000	0.41574	CGT		0.562	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			4	37	0	0	0	1	0	4	37				
CFHR5	81494	broad.mit.edu	37	1	196963263	196963263	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:196963263A>T	ENST00000256785.4	+	4	593	c.484A>T	c.(484-486)Aaa>Taa	p.K162*	CFHR5_ENST00000367414.5_Nonsense_Mutation_p.K186*			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	162	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCAGCCAAAAAAAGAAAGCTA	0.338																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(556-558)Aaa>Taa		complement factor H-related 5							86.0	98.0	94.0					1																	196963263		2203	4300	6503	SO:0001587	stop_gained	81494				complement activation, alternative pathway	extracellular region		g.chr1:196963263A>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.484A>T	1.37:g.196963263A>T	ENSP00000256785:p.Lys162*					CFHR5_ENST00000256785.4_Nonsense_Mutation_p.K162*	p.K186*	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			4	612	+			162			Sushi 3.		Q2NKK2	Nonsense_Mutation	SNP	ENST00000256785.4	37	c.556A>T	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.780847	0.31502	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	.	.	.	3.72	-7.15	0.01521	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4244	0.67204	0.2406:0.7594:0.0:0.0	.	.	.	.	X	186;162	.	ENSP00000256785:K162X	K	+	1	0	CFHR5	195229886	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.892000	0.01610	-1.001000	0.03434	0.247000	0.18012	AAA		0.338	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		61	47	0	0	0	1	0	61	47				
OR9I1	219954	broad.mit.edu	37	11	57886677	57886677	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:57886677C>A	ENST00000302610.1	-	1	239	c.240G>T	c.(238-240)caG>caT	p.Q80H	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TGGCTAGGATCTGAGGGGTGA	0.507																																						ENST00000302610.1																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(238-240)caG>caT		olfactory receptor, family 9, subfamily I, member 1							117.0	92.0	101.0					11																	57886677		2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886677C>A	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.240G>T	11.37:g.57886677C>A	ENSP00000302606:p.Gln80His					OR9Q1_ENST00000335397.3_Intron	p.Q80H	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN			1	239	-		Breast(21;0.0589)	80					Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.240G>T	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838934	0.51057	.	.	ENSG00000172377	ENST00000302610	T	0.00408	7.54	5.06	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000316	T	0.00784	0.0026	M	0.79614	2.46	0.30668	N	0.753644	D	0.63880	0.993	P	0.62813	0.907	T	0.35450	-0.9788	10	0.72032	D	0.01	-13.9185	3.6213	0.08097	0.1731:0.5412:0.0:0.2857	.	80	Q8NGQ6	OR9I1_HUMAN	H	80	ENSP00000302606:Q80H	ENSP00000302606:Q80H	Q	-	3	2	OR9I1	57643253	0.000000	0.05858	1.000000	0.80357	0.915000	0.54546	-0.472000	0.06623	0.784000	0.33661	0.467000	0.42956	CAG		0.507	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		8	24	1	0	1.76689e-08	1	1.81667e-08	8	24				
MYH2	4620	broad.mit.edu	37	17	10447217	10447217	+	Splice_Site	SNP	A	A	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr17:10447217A>T	ENST00000245503.5	-	7	1033		c.e7+1		MYH2_ENST00000532183.2_Splice_Site|MYH2_ENST00000397183.2_Splice_Site|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.?(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AATCAGACTCACCTGTATTTT	0.478																																						ENST00000245503.5																			1	Unknown(1)	p.?(1)	kidney(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.e7+1		myosin, heavy chain 2, skeletal muscle, adult							91.0	82.0	85.0					17																	10447217		2203	4300	6503	SO:0001630	splice_region_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10447217A>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.648+1T>A	17.37:g.10447217A>T						MYH2_ENST00000532183.1_Splice_Site|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Splice_Site		NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			7	1033	-								A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Splice_Site	SNP	ENST00000245503.5	37		CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.981168	0.34942	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9948	0.47569	0.8441:0.1559:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2	10387942	0.994000	0.37717	0.973000	0.42090	0.269000	0.26545	3.816000	0.55658	2.119000	0.64992	0.533000	0.62120	.		0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	Intron	4	47	0	0	0	1	0	4	47				
HUWE1	10075	broad.mit.edu	37	X	53621471	53621471	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chrX:53621471T>C	ENST00000342160.3	-	30	3948	c.3491A>G	c.(3490-3492)aAt>aGt	p.N1164S	HUWE1_ENST00000262854.6_Missense_Mutation_p.N1164S|HUWE1_ENST00000218328.8_Missense_Mutation_p.N1164S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1164					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAAAAGAGCATTGTGGCCTCC	0.458																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(3490-3492)aAt>aGt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							100.0	83.0	88.0					X																	53621471		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53621471T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3491A>G	X.37:g.53621471T>C	ENSP00000340648:p.Asn1164Ser					HUWE1_ENST00000262854.6_Missense_Mutation_p.N1164S|HUWE1_ENST00000218328.8_Missense_Mutation_p.N1164S	p.N1164S			Q7Z6Z7	HUWE1_HUMAN			30	3948	-			1164					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.3491A>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	9.278	1.047511	0.19827	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.41065	1.33;1.33;1.01	5.71	5.71	0.89125	.	0.058907	0.64402	D	0.000002	T	0.19327	0.0464	N	0.03115	-0.41	0.43058	D	0.994677	B	0.26744	0.158	B	0.20767	0.031	T	0.14924	-1.0455	10	0.09338	T	0.73	.	13.8749	0.63647	0.0:0.0:0.0:1.0	.	1164	Q7Z6Z7	HUWE1_HUMAN	S	1164	ENSP00000340648:N1164S;ENSP00000262854:N1164S;ENSP00000218328:N1164S	ENSP00000218328:N1164S	N	-	2	0	HUWE1	53638196	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.730000	0.84881	1.921000	0.55644	0.417000	0.27973	AAT		0.458	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	10	0	0	0	1	0	4	10				
EIF4G3	8672	broad.mit.edu	37	1	21268268	21268268	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:21268268G>T	ENST00000264211.8	-	8	1405	c.1211C>A	c.(1210-1212)gCt>gAt	p.A404D	EIF4G3_ENST00000374937.3_Missense_Mutation_p.A410D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A404D|EIF4G3_ENST00000602326.1_Missense_Mutation_p.A410D|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A8D|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A404D|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000356916.3_Missense_Mutation_p.A415D	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	404					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGTGATGGGAGCTGGGATACA	0.478																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(1228-1230)gCt>gAt		eukaryotic translation initiation factor 4 gamma, 3							87.0	84.0	85.0					1																	21268268		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268268G>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1211C>A	1.37:g.21268268G>T	ENSP00000264211:p.Ala404Asp					EIF4G3_ENST00000400422.1_Missense_Mutation_p.A404D|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A404D|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A410D|EIF4G3_ENST00000356916.3_Missense_Mutation_p.A415D|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A404D|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A8D	p.A410D	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	12	1812	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	404					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.1229C>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790843	0.31685	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000536266;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.89	2.72	0.32119	.	0.929623	0.09356	N	0.813430	T	0.12135	0.0295	N	0.08118	0	0.19575	N	0.999964	P;B;P;B;B;B	0.42203	0.573;0.201;0.773;0.045;0.026;0.026	B;B;B;B;B;B	0.39465	0.3;0.107;0.3;0.063;0.031;0.029	T	0.15178	-1.0446	10	0.19590	T	0.45	0.1365	5.8496	0.18685	0.1775:0.0:0.6758:0.1467	.	404;599;530;8;410;404	B4DXR2;Q59GJ0;B1AN89;F5H564;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	D	404;600;404;410;8;530;404;415	ENSP00000264211:A404D;ENSP00000383274:A404D;ENSP00000364073:A410D;ENSP00000444693:A8D;ENSP00000364062:A404D	ENSP00000264211:A404D	A	-	2	0	EIF4G3	21140855	0.002000	0.14202	0.268000	0.24571	0.732000	0.41865	0.524000	0.22940	0.261000	0.21753	-0.127000	0.14921	GCT		0.478	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		15	59	1	0	1.5739e-10	1	1.66514e-10	15	59				
OR51E2	81285	broad.mit.edu	37	11	4703866	4703866	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:4703866C>T	ENST00000396950.3	-	2	315	c.76G>A	c.(76-78)Gtt>Att	p.V26I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	26					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGGAAGCCAACCCAGAAATGG	0.507																																						ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(76-78)Gtt>Att		olfactory receptor, family 51, subfamily E, member 2							73.0	72.0	72.0					11																	4703866		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703866C>T	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.76G>A	11.37:g.4703866C>T	ENSP00000380153:p.Val26Ile						p.V26I	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	315	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	26					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.76G>A	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.406147	0.01155	.	.	ENSG00000167332	ENST00000396950;ENST00000532598	T;T	0.00318	8.12;8.12	5.0	-2.15	0.07102	.	0.296299	0.23585	N	0.046612	T	0.00039	0.0001	N	0.00140	-2.01	0.22771	N	0.998755	B	0.02656	0.0	B	0.01281	0.0	T	0.44314	-0.9336	10	0.02654	T	1	.	4.2383	0.10637	0.6292:0.0801:0.0961:0.1946	.	26	Q9H255	O51E2_HUMAN	I	26	ENSP00000380153:V26I;ENSP00000432644:V26I	ENSP00000380153:V26I	V	-	1	0	OR51E2	4660442	0.412000	0.25392	0.805000	0.32314	0.615000	0.37417	-0.101000	0.10973	-0.179000	0.10654	-1.093000	0.02169	GTT		0.507	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		5	36	0	0	0	1	0	5	36				
DYNC2H1	79659	broad.mit.edu	37	11	102987372	102987372	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:102987372A>G	ENST00000375735.2	+	5	839	c.695A>G	c.(694-696)gAt>gGt	p.D232G	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.D232G|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D232G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	232	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATGTTGTAGATGATGTGTGG	0.338																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(694-696)gAt>gGt		dynein, cytoplasmic 2, heavy chain 1							187.0	186.0	186.0					11																	102987372		1901	4123	6024	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102987372A>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.695A>G	11.37:g.102987372A>G	ENSP00000364887:p.Asp232Gly					DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D232G|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.D232G	p.D232G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	5	839	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	232			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.695A>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.305832	0.81247	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.54675	0.56;0.56;0.56	5.55	5.55	0.83447	Dynein heavy chain, domain-1 (1);	0.000000	0.50627	U	0.000116	T	0.75657	0.3879	M	0.84846	2.72	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.836	D;D;P	0.87578	0.998;0.996;0.609	T	0.79997	-0.1567	10	0.66056	D	0.02	.	15.7067	0.77588	1.0:0.0:0.0:0.0	.	232;232;232	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	G	232	ENSP00000364887:D232G;ENSP00000334021:D232G;ENSP00000381167:D232G	ENSP00000334021:D232G	D	+	2	0	DYNC2H1	102492582	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.962000	0.93254	2.104000	0.64026	0.528000	0.53228	GAT		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		16	77	0	0	0	1	0	16	77				
VANGL2	57216	broad.mit.edu	37	1	160388965	160388965	+	Silent	SNP	G	G	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:160388965G>A	ENST00000368061.2	+	4	840	c.366G>A	c.(364-366)acG>acA	p.T122T		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	122					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTTCCTCACGCCTCTGGCCT	0.667																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(364-366)acG>acA		VANGL planar cell polarity protein 2							57.0	57.0	57.0					1																	160388965		2203	4300	6503	SO:0001819	synonymous_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160388965G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.366G>A	1.37:g.160388965G>A							p.T122T	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	840	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		122					D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	c.366G>A	CCDS30915.1																																																																																				0.667	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		18	38	0	0	0	1	0	18	38				
TAF1L	138474	broad.mit.edu	37	9	32632931	32632931	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr9:32632931G>C	ENST00000242310.4	-	1	2736	c.2647C>G	c.(2647-2649)Ctt>Gtt	p.L883V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	883					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCAGACTTAAGCACCCACCAG	0.463																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2647-2649)Ctt>Gtt		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							167.0	161.0	163.0					9																	32632931		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632931G>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2647C>G	9.37:g.32632931G>C	ENSP00000418379:p.Leu883Val						p.L883V	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2736	-			883					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2647C>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693648	0.30052	.	.	ENSG00000122728	ENST00000242310	T	0.16743	2.32	1.04	1.04	0.20106	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	M	0.62723	1.935	0.44030	D	0.996757	D	0.65815	0.995	D	0.70016	0.967	T	0.04551	-1.0943	10	0.48119	T	0.1	.	3.4007	0.07323	0.3032:0.0:0.6968:0.0	.	883	Q8IZX4	TAF1L_HUMAN	V	883	ENSP00000418379:L883V	ENSP00000418379:L883V	L	-	1	0	TAF1L	32622931	1.000000	0.71417	0.988000	0.46212	0.883000	0.51084	0.878000	0.28126	0.507000	0.28148	0.195000	0.17529	CTT		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			8	172	0	0	0	1	0	8	172				
DGKZ	8525	broad.mit.edu	37	11	46397443	46397443	+	Silent	SNP	C	C	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:46397443C>T	ENST00000454345.1	+	22	2642	c.2517C>T	c.(2515-2517)cgC>cgT	p.R839R	DGKZ_ENST00000528615.1_Silent_p.R429R|DGKZ_ENST00000421244.2_Silent_p.R651R|DGKZ_ENST00000318201.8_Silent_p.R628R|DGKZ_ENST00000343674.6_Silent_p.R667R|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Silent_p.R617R|DGKZ_ENST00000532868.2_Silent_p.R655R|DGKZ_ENST00000527911.1_Silent_p.R651R|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000456247.2_Silent_p.R650R	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	839					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGGTGAGTCGCGTCAGCATGC	0.692																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(2515-2517)cgC>cgT		diacylglycerol kinase, zeta							22.0	21.0	21.0					11																	46397443		2190	4294	6484	SO:0001819	synonymous_variant	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46397443C>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2517C>T	11.37:g.46397443C>T						DGKZ_ENST00000318201.8_Silent_p.R628R|DGKZ_ENST00000532868.2_Silent_p.R655R|DGKZ_ENST00000395574.3_Silent_p.R617R|DGKZ_ENST00000456247.2_Silent_p.R650R|DGKZ_ENST00000528615.1_Silent_p.R429R|DGKZ_ENST00000527911.1_Silent_p.R651R|DGKZ_ENST00000421244.2_Silent_p.R651R|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000343674.6_Silent_p.R667R	p.R839R	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	22	2642	+			839					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Silent	SNP	ENST00000454345.1	37	c.2517C>T	CCDS41640.1																																																																																				0.692	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		3	3	0	0	0	1	0	3	3				
ALAS1	211	broad.mit.edu	37	3	52246385	52246385	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr3:52246385C>T	ENST00000394965.2	+	11	2071	c.1711C>T	c.(1711-1713)Cgg>Tgg	p.R571W	ALAS1_ENST00000469224.1_Missense_Mutation_p.R571W|ALAS1_ENST00000484952.1_Missense_Mutation_p.R571W|ALAS1_ENST00000310271.2_Missense_Mutation_p.R571W	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	571					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AGAGCTCCTACGGATTGCCCC	0.517																																						ENST00000394965.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(1711-1713)Cgg>Tgg		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						251.0	268.0	262.0					3																	52246385		2203	4300	6503	SO:0001583	missense	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52246385C>T	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1711C>T	3.37:g.52246385C>T	ENSP00000378416:p.Arg571Trp					ALAS1_ENST00000484952.1_Missense_Mutation_p.R571W|ALAS1_ENST00000469224.1_Missense_Mutation_p.R571W|ALAS1_ENST00000310271.2_Missense_Mutation_p.R571W	p.R571W	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	11	2071	+			571						Missense_Mutation	SNP	ENST00000394965.2	37	c.1711C>T	CCDS2847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.62|15.62	2.888327|2.888327	0.52014|0.52014	.|.	.|.	ENSG00000023330|ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952|ENST00000459884	D;D;D;D|.	0.98280|.	-4.84;-4.84;-4.84;-4.84|.	5.22|5.22	4.35|4.35	0.52113|0.52113	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89378|0.89378	0.6698|0.6698	H|H	0.99900|0.99900	4.915|4.915	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.90358|0.90358	0.4371|0.4371	10|5	0.87932|.	D|.	0|.	-14.652|-14.652	8.7424|8.7424	0.34564|0.34564	0.1493:0.7746:0.0:0.0761|0.1493:0.7746:0.0:0.0761	.|.	588;571|.	B4DVA0;P13196|.	.;HEM1_HUMAN|.	W|M	571|71	ENSP00000417719:R571W;ENSP00000378416:R571W;ENSP00000309259:R571W;ENSP00000418779:R571W|.	ENSP00000309259:R571W|.	R|T	+|+	1|2	2|0	ALAS1|ALAS1	52221425|52221425	1.000000|1.000000	0.71417|0.71417	0.322000|0.322000	0.25334|0.25334	0.055000|0.055000	0.15305|0.15305	5.918000|5.918000	0.69996|0.69996	1.197000|1.197000	0.43143|0.43143	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.517	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			46	156	0	0	0	1	0	46	156				
ARMC2	84071	broad.mit.edu	37	6	109215691	109215691	+	Silent	SNP	G	G	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr6:109215691G>A	ENST00000392644.4	+	6	861	c.693G>A	c.(691-693)gcG>gcA	p.A231A	ARMC2_ENST00000368972.3_Silent_p.A66A	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	231										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AGAGACATGCGAGGGCCTCAT	0.483																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.(691-693)gcG>gcA		armadillo repeat containing 2							110.0	104.0	106.0					6																	109215691		2203	4300	6503	SO:0001819	synonymous_variant	84071						binding	g.chr6:109215691G>A	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.693G>A	6.37:g.109215691G>A						ARMC2_ENST00000368972.3_Silent_p.A66A	p.A231A	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	6	861	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	231					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	ENST00000392644.4	37	c.693G>A	CCDS5069.2																																																																																				0.483	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		21	4	0	0	0	1	0	21	4				
OBSCN	84033	broad.mit.edu	37	1	228437698	228437698	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr1:228437698G>A	ENST00000422127.1	+	14	4110	c.4066G>A	c.(4066-4068)Gca>Aca	p.A1356T	OBSCN_ENST00000570156.2_Missense_Mutation_p.A1448T|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1356T|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1356	Ig-like 14.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGCAGCTGGCACACAGGAA	0.627																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4342-4344)Gca>Aca		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							67.0	71.0	70.0					1																	228437698		2080	4211	6291	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437698G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4066G>A	1.37:g.228437698G>A	ENSP00000409493:p.Ala1356Thr					OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1356T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1356T	p.A1448T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			15	4416	+		Prostate(94;0.0405)	426			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4342G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	9.474	1.096505	0.20552	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.61510	0.5;0.1	5.31	3.09	0.35607	Immunoglobulin-like (1);	0.731801	0.12564	N	0.457894	T	0.45296	0.1335	L	0.42245	1.32	0.20307	N	0.999917	B;B	0.23058	0.045;0.079	B;B	0.25405	0.06;0.015	T	0.30238	-0.9985	10	0.13853	T	0.58	.	7.9113	0.29793	0.1722:0.1974:0.6303:0.0	.	1356;1356	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	1356	ENSP00000284548:A1356T;ENSP00000409493:A1356T	ENSP00000284548:A1356T	A	+	1	0	OBSCN	226504321	0.002000	0.14202	0.021000	0.16686	0.024000	0.10985	0.848000	0.27710	1.229000	0.43630	0.655000	0.94253	GCA		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		24	92	0	0	0	1	0	24	92				
PIK3R1	5295	broad.mit.edu	37	5	67591318	67591319	+	Splice_Site	INS	-	-	A			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr5:67591318_67591319insA	ENST00000521381.1	+	14	2430		c.e14+2		PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.?(2)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CACTGAAGAGTAAGTAGTTACT	0.356			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		4	Unknown(2)|Whole gene deletion(1)|Deletion - Frameshift(1)	p.?(2)|p.Y580fs*1(1)|p.0?(1)	large_intestine(1)|lung(1)|ovary(1)|central_nervous_system(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.e14+2		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001630	splice_region_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591318_67591319insA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1814+2->A	5.37:g.67591320_67591320dupA		TCGA GBM(4;<1E-08)				PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site		NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2430	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)						B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	INS	ENST00000521381.1	37		CCDS3993.1																																																																																				0.356	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	Intron	18	27						18	27	---	---	---	---
APOBEC2	10930	broad.mit.edu	37	6	41029171	41029172	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr6:41029171_41029172insG	ENST00000244669.2	+	2	280_281	c.236_237insG	c.(235-240)aaggggfs	p.KG79fs		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	79					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCACAGGGCAAGGGGGGCCAAG	0.559																																					Ovarian(118;1320 2185 8096 29684)	ENST00000244669.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10						c.(235-237)aggfs		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2																																				SO:0001589	frameshift_variant	10930				DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	g.chr6:41029171_41029172insG	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.242dupG	6.37:g.41029177_41029177dupG	ENSP00000244669:p.Lys79fs						p.R79fs	NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN			2	280_281	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		79					B2R899|Q53F28|Q5TGU5|Q5TGU6	Frame_Shift_Ins	INS	ENST00000244669.2	37	c.236_237insG	CCDS4848.1																																																																																				0.559	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		19	40						19	40	---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151209057	151209057	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr6:151209057delC	ENST00000367321.3	+	7	994	c.720delC	c.(718-720)ttcfs	p.F240fs	MTHFD1L_ENST00000367307.4_Frame_Shift_Del_p.F240fs	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	240	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AATGCCTGTTCCAGAGAAAAG	0.428																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(718-720)ttfs		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							107.0	110.0	109.0					6																	151209057		2203	4300	6503	SO:0001589	frameshift_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151209057delC	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.720delC	6.37:g.151209057delC	ENSP00000356290:p.Phe240fs					MTHFD1L_ENST00000367307.4_Frame_Shift_Del_p.F240fs	p.F240fs	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	7	994	+		Ovarian(120;0.128)	240			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Frame_Shift_Del	DEL	ENST00000367321.3	37	c.720delC	CCDS5228.1																																																																																				0.428	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		31	77						31	77	---	---	---	---
CDK2AP2	10263	broad.mit.edu	37	11	67275498	67275498	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr11:67275498delG	ENST00000301488.3	-	1	604	c.56delC	c.(55-57)cctfs	p.P19fs	PITPNM1_ENST00000356404.3_5'Flank|CDK2AP2_ENST00000531506.1_Frame_Shift_Del_p.P19fs|PITPNM1_ENST00000436757.2_5'Flank	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	19										lung(1)	1						GCCCGGCCCAGGGGTGCTGGA	0.711																																						ENST00000301488.3																			0				lung(1)	1						c.(55-57)ctfs		cyclin-dependent kinase 2 associated protein 2							5.0	6.0	5.0					11																	67275498		2010	3967	5977	SO:0001589	frameshift_variant	10263							g.chr11:67275498delG	AF089814	CCDS8169.1	11q13	2010-05-17	2008-11-04		ENSG00000167797	ENSG00000167797			30833	protein-coding gene	gene with protein product	"""tumor suppressor deleted in oral cancer related 1"""		"""CDK2-associated protein 2"""			10082655	Standard	NM_005851		Approved	DOC-1R, p14	uc001oma.4	O75956		ENST00000301488.3:c.56delC	11.37:g.67275498delG	ENSP00000301488:p.Pro19fs					CDK2AP2_ENST00000531506.1_Frame_Shift_Del_p.P19fs	p.P19fs	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN			1	604	-			19						Frame_Shift_Del	DEL	ENST00000301488.3	37	c.56delC	CCDS8169.1																																																																																				0.711	CDK2AP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395535.1	NM_005851		2	4						2	4	---	---	---	---
UBL7	84993	broad.mit.edu	37	15	74744688	74744689	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr15:74744688_74744689delCT	ENST00000567435.1	-	4	798_799	c.335_336delAG	c.(334-336)gagfs	p.E112fs	UBL7_ENST00000565335.1_Frame_Shift_Del_p.E112fs|UBL7_ENST00000395081.2_Frame_Shift_Del_p.E112fs|UBL7_ENST00000564488.1_Frame_Shift_Del_p.E112fs|UBL7_ENST00000361351.4_Frame_Shift_Del_p.E112fs			Q96S82	UBL7_HUMAN	ubiquitin-like 7	112										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						ACACCCGGAACTCTCTCATGGC	0.579																																						ENST00000567435.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(334-336)gfs		ubiquitin-like 7 (bone marrow stromal cell-derived)																																				SO:0001589	frameshift_variant	84993						protein binding	g.chr15:74744688_74744689delCT	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.335_336delAG	15.37:g.74744692_74744693delCT	ENSP00000457703:p.Glu112fs					UBL7_ENST00000565335.1_Frame_Shift_Del_p.E112fs|UBL7_ENST00000361351.4_Frame_Shift_Del_p.E112fs|UBL7_ENST00000395081.2_Frame_Shift_Del_p.E112fs|UBL7_ENST00000564488.1_Frame_Shift_Del_p.E112fs	p.E112fs			Q96S82	UBL7_HUMAN			4	798_799	-			112					D3DW57|Q96I03	Frame_Shift_Del	DEL	ENST00000567435.1	37	c.335_336delAG	CCDS10263.1																																																																																				0.579	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		2	4						2	4	---	---	---	---
TFAP4	7023	broad.mit.edu	37	16	4310592	4310593	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ZG-A9L5-01A-12D-A41K-08	TCGA-ZG-A9L5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd23f776-bd81-4c83-b0a2-6657ac9fd76d	0c8cd31c-0194-4b85-bb50-ba9f14c78b19	g.chr16:4310592_4310593insG	ENST00000204517.6	-	5	857_858	c.529_530insC	c.(529-531)cgcfs	p.R177fs		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	177	Leucine-zipper 2.				cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CTCCAGCGAGCGCACCTGGAGG	0.624																																						ENST00000204517.6																			0				NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(529-531)ctcfs		transcription factor AP-4 (activating enhancer binding protein 4)																																				SO:0001589	frameshift_variant	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4310592_4310593insG	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.530dupC	16.37:g.4310593_4310593dupG	ENSP00000204517:p.Arg177fs						p.L177fs	NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN			5	857_858	-			177			Leucine-zipper 2.		O60409	Frame_Shift_Ins	INS	ENST00000204517.6	37	c.529_530insC	CCDS10510.1																																																																																				0.624	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		6	9						6	9	---	---	---	---
